Genetics & Heredity
Concept
Vocabulary Service
Overview
subject area of
-
15q11.2 microdeletion (BP1–BP2) and developmental delay, behaviour issues, epilepsy and congenital heart disease: A series of 52 patients Academic Article
-
2 DIFFERENT MISSENSE MUTATIONS AT ARG 178 OF THE PROTEIN-C (PROC) GENE CAUSING RECURRENT VENOUS THROMBOSIS Academic Article
-
242 Breakpoints in the 200-kb deletion-prone P20 region of the DMD gene are widely spread Academic Article
-
45,X/46,XY mosaicism confined to amnion in a stillborn 46,XY male with IUGR. Conference Paper
-
46,XX/46,XX,r (2)(p25q37) mosaicism: clinical and cytogenetic studies. Academic Article
-
67. Immune cell phenotypes and cytokine response in a mouse model of sialidase deficiency Conference Paper
-
68. Impact of tumor necrosis factor-alpha deletion on astrolgliosis and microgliosis in the CNS of Sandhoff mice Conference Paper
-
69. The therapeutic potential of small pharmacological molecules in the treatment of Sialidosis Academic Article
-
GRIN2Bencephalopathy: novel findings on phenotype, variant clustering, functional consequences and treatment aspects Academic Article
-
Kenny-Caffey syndrome Academic Article
-
A 9 nt deletion in mt DNA in 2 siblings with pervasive developmental disorder (PDD) and mitochondrial myopathy. Conference Paper
-
A CGG-Repeat Expansion Mutation inZNF713Causes FRA7A: Association with Autistic Spectrum Disorder in two Families Academic Article
-
A COMBINATION OF TRADITIONAL CYTOGENETIC TECHNIQUES AND INSITU HYBRIDIZATION HAS ALLOWED ELUCIDATION OF THE KARYOTYPE IN 2 YOUNG BOYS WITH ABNORMAL SEX-CHROMOSOME COMPLEMENTS Conference Paper
-
A DNA marker closely linked to the factor IX (haemophilia B) gene Academic Article
-
A FISH study of chromosome fusion in the ICF syndrome: involvement of paracentric heterochromatin but not of the centromeres themselves. Academic Article
-
A GENETIC-LINKAGE STUDY OF HUNTINGTONS-CHOREA Conference Paper
-
A Genome-wide Association Study Identifies Risk Alleles in Plasminogen and P4HA2 Associated with Giant Cell Arteritis Academic Article
-
A Highly Unstable Recent Mutation in Human mtDNA Academic Article
-
A LINKAGE STUDY USING DNA MARKERS LOCALIZES THE GENE FOR X-LINKED DOMINANT CHARCOT-MARIE-TOOTH DISEASE AT XQ13-XQ22 Conference Paper
-
A LOW-COPY, CHROMOSOME-SPECIFIC ALPHA SATELLITE DOMAIN LOCATED IN THE PERICENTROMERIC REGION OF HUMAN CHROMOSOME-14 Conference Paper
-
A Large-Scale Genetic Analysis Reveals a Strong Contribution of the HLA Class II Region to Giant Cell Arteritis Susceptibility Academic Article
-
A Multiplex Human Syndrome Implicates a Key Role for Intestinal Cell Kinase in Development of Central Nervous, Skeletal, and Endocrine Systems Academic Article
-
A Multiplex Human Syndrome Implicates a Key Role for Intestinal Cell Kinase in Development of Central Nervous, Skeletal, and Endocrine Systems Academic Article
-
A NOVEL PHASE 2A STUDY DESIGN TO INVESTIGATE THE EFFECT OF AT2220 (DUVOGLUSTAT HCL) ON THE PHARMACOKINETICS OF ACID ALPHA-GLUCOSIDASE IN SUBJECTS WITH POMPE DISEASE Conference Paper
-
A NOVEL-APPROACH TO THE PROVISION OF DIAGNOSIS OF HUNTINGTON DISEASE (HD) THROUGH A PREDICTIVE TESTING PROGRAM Conference Paper
-
A Recurrent De Novo Heterozygous COG4 Substitution Leads to Saul-Wilson Syndrome, Disrupted Vesicular Trafficking, and Altered Proteoglycan Glycosylation Academic Article
-
A SATELLITED CHROMOSOME-2 Conference Paper
-
A biallelic pathogenic variant in the OGDH gene results in a neurological disorder with features of a mitochondrial disease Academic Article
-
A case of 46,XX,r(X) (p1q1) diagnosed by in situ hybridization Academic Article
-
A common X-linked inborn error of carnitine biosynthesis may be a risk factor for non-dysmorphic autism Conference Paper
-
A complete deletion of the factor IX gene and new TaqI variant in a hemophilia B kindred Academic Article
-
A de novo mutation (C755T; Ser252Phe) in exon 6 of the proteolipid protein gene responsible for Pelizaeus-Merzbacher disease Academic Article
-
A frameshift mitochondrial complex I gene mutation in a patient with dystonia and cataracts: is the mutation pathogenic? Academic Article
-
A genome assembly-integrated dog 1 Mb BAC microarray: a cytogenetic resource for canine cancer studies and comparative genomic analysis Academic Article
-
A genome-wide association study of sporadic ALS in a homogenous Irish population Academic Article
-
A genome-wide scan for common alleles affecting risk for autism Academic Article
-
A huntingtin-mediated fast stress response halting endosomal trafficking is defective in Huntington's disease Academic Article
-
A large-scale candidate gene association study of age at menarche and age at natural menopause Academic Article
-
A model for the genetic etiology of autism spectrum disorders involving alleles at maternal and fetal susceptibility loci. Conference Paper
-
A mutation in the TMEM65 gene results in mitochondrial myopathy with severe neurological manifestations Academic Article
-
A mutation of the myosin heavy chain-7 tail domain results in an autosomal dominant hyaline body myopathy. Conference Paper
-
A new syndrome of ankyloglossia and ulnar ray defects in a Newfoundland kindred Academic Article
-
A novel approach of homozygous haplotype sharing identifies candidate genes in autism spectrum disorder Academic Article
-
A novel mutation in the PYGM gene in a family with pseudo-dominant transmission of McArdle disease Academic Article
-
A pathogenic UFSP2 variant in an autosomal recessive form of pediatric neurodevelopmental anomalies and epilepsy Academic Article
-
A phase 2a study to investigate drug–drug interactions between escalating doses of AT2220 (duvoglustat hydrochloride) and acid alfa-glucosidase in subjects with Pompe disease Conference Paper
-
A point mutation in the neu1 promoter recruits an ectopic repressor, Nkx3.2 and results in a mouse model of sialidase deficiency Academic Article
-
A polygenic basis for four classical Fredrickson hyperlipoproteinemia phenotypes that are characterized by hypertriglyceridemia Academic Article
-
A proposed mechanism for intermediate atresia ani (AA), based on a porcine case of AA and hypospadias Academic Article
-
A provisionally unique syndrome with features including "molar tooth" sign and "femoral hypoplasia". Academic Article
-
A randomized.controlled trial (RCT) to evaluate the use of misoprostol for second trimester pregnancy termination associated with fetal malformation Conference Paper
-
A rapid and simple electrophoretic method for the detection of mutations involving small insertion or deletion: application to ?-thalassemia Academic Article
-
A rare case of mosaic Down syndrome 46,XY/46,XY, -21, +i(21q) Academic Article
-
A rare subtelomeric deletion syndrome: Wolf Hirschhorn syndrome. Academic Article
-
A significant response to neoadjuvant chemotherapy in BRCA1/2 related breast cancer Academic Article
-
A study to determine the genetic basis of uterine papillary serous adenocarcinoma. Conference Paper
-
A target based approach identifies genomic predictors of breast cancer patient response to chemotherapy Academic Article
-
A trans-ancestral meta-analysis of genome-wide association studies reveals loci associated with childhood obesity Academic Article
-
ABHD16A deficiency causes a complicated form of hereditary spastic paraplegia associated with intellectual disability and cerebral anomalies Academic Article
-
ADULT ONSET POLYCYSTIC KIDNEY-DISEASE (APKD) - CLINICAL ONSET, PROGNOSIS AND ULTRASONOGRAPHIC DETECTION Conference Paper
-
ALLOGENEIC SOMATIC GENE-THERAPY - CORRECTION OF GROWTH-HORMONE DEFICIENCY IN DWARF MICE WITH MICRO-ENCAPSULATED NON-AUTOLOGOUS MYOBLASTS Conference Paper
-
ALPHA-SATELLITE ON CHROMOSOME-7 - MOLECULAR-ORGANIZATION, DNA POLYMORPHISMS, AND CENTROMERIC LOCALIZATION Conference Paper
-
AN ETIOLOGICAL STUDY OF ISOCHROMOSOME-X TURNERS SYNDROME Academic Article
-
AN ONGOING PHASE 2A STUDY TO INVESTIGATE THE EFFECT OF AT2220 (DUVOGLUSTAT HCL) ON THE PHARMACOKINETICS OF ACID ALPHA-GLUCOSIDASE IN SUBJECTS WITH POMPE DISEASE: PRELIMINARY RESULTS Conference Paper
-
ANTENATAL DIAGNOSIS OF GLUTARIC ACIDEMIA Conference Paper
-
ANTI-ZETA WILL RELIABLY DETECT (SEA) DOUBLE ALPHA-DELETIONS Conference Paper
-
AP-2α knockout mice exhibit optic cup patterning defects and failure of optic stalk morphogenesis Academic Article
-
ARYLSULFATASE-C ISOZYMES IN HUMAN-TISSUES Conference Paper
-
ASSIGNMENT AND REGIONAL LOCALIZATION OF A SERIES OF X-CHROMOSOME SPECIFIC DNA PROBES Conference Paper
-
ASSIGNMENT AND REGIONAL LOCALIZATION OF A SERIES OF X-CHROMOSOME SPECIFIC DNA PROBES Conference Paper
-
Abdominal Aortic Aneurysm Is Associated with a Variant in Low-Density Lipoprotein Receptor-Related Protein 1 Academic Article
-
Aberrant Drp1-mediated mitochondrial division presents in humans with variable outcomes Academic Article
-
Abnormal fatty acid metabolism in childhood spinal muscular atrophy (SMA) may predispose to perioperative risks for mitochondrial decompensation and liver failure Conference Paper
-
Absence of a Paternally Inherited FOXP2 Gene in Developmental Verbal Dyspraxia Academic Article
-
Absence of congemla1 myotomc dystrophy (CDM) in a baby wth 1000 DMPK CTG repeats born afler a slblmg with CDM Academic Article
-
Absence of germline p16INK4a alterations in p53 wild type Li-Fraumeni syndrome families Academic Article
-
Accelerated decline in lung function in cigarette smokers is associated with TP53/MDM2 polymorphisms Academic Article
-
Achondroplasia-Hypochondroplasia Complex in a newborn. Conference Paper
-
Adapting the ACMG/AMP variant classification framework: A perspective from the ClinGen Hemoglobinopathy Variant Curation Expert Panel Academic Article
-
Adverse psychological events occurring in the first year after predictive testing for Huntington's disease. The Canadian Collaborative Study Predictive Testing. Academic Article
-
Aerobic training as an adjunctive therapy to enzyme replacement in Pompe disease Academic Article
-
Agnathia-otocephaly complex in a fetus with maternal use of topical 1% salicylate Academic Article
-
Allele frequency data for VNTR locus D17S79: Identification of an internalHaeIII polymorphism in the black population Academic Article
-
Allelic Stability of VNTR Locus 3’αHVR: Linkage Disequilibrium with the Common α-Thalassaemia-1-Deletion of South-East Asia (--SEA/) Academic Article
-
Alterations of erythrocyte ghost protein phosphorylation in the duchenne and myotonic muscular dystrophies Academic Article
-
American Journal of Human Genetics Journal
-
American Journal of Medical Genetics Part C: Seminars in Medical Genetics Journal
-
An adjacent-2 segregation in a balanced familial t(9;15)(q32;q13) with a large centric segment. Conference Paper
-
An autosomal dominant neurological disorder caused by de novo variants in FAR1 resulting in uncontrolled synthesis of ether lipids Academic Article
-
An efficient strategy for gene mapping using multipoint linkage analysis: exclusion of the multiple endocrine neoplasia 2A (MEN2A) locus from chromosome 13. Academic Article
-
An emerging role for Wnt and GSK3 signaling pathways in schizophrenia Academic Article
-
An inversion inv(4)(p12-p15.3) in autistic siblings implicates the 4p GABA receptor gene cluster Academic Article
-
An uncommon 3.4-Mb interstitial deletion at 3q29 Academic Article
-
Annals of Human Genetics Journal
-
Anti-ζ Antibody Screening for α-Thalassemia Using Dried Filter Paper Blood Academic Article
-
Apoptotic Cell Death in Mouse Models of GM2 Gangliosidosis and Observations on Human Tay-Sachs and Sandhoff Diseases Academic Article
-
Arthrogryposis multiplex congenita definition: Update using an international consensus‐based approach Academic Article
-
Assessing non-Mendelian inheritance in inherited axonopathies Academic Article
-
Assigning a probability for paternity in apparent cases of mutation. Academic Article
-
Assignment of the bovine attractin (ATRN) gene to chromosome 13q21→q22 by in situ hybridization Academic Article
-
Association between the -455T>C promoter polymorphism of the APOC3gene and the metabolic syndrome in a multi-ethnic sample Academic Article
-
Association between the Lynch syndrome gene MSH2 and breast cancer susceptibility in a Canadian familial cancer registry Academic Article
-
Association of autism severity with a monoamine oxidase A functional polymorphism Academic Article
-
Associations of NOD2 polymorphisms with Erysipelotrichaceae in stool of in healthy first degree relatives of Crohn’s disease subjects Academic Article
-
Attitudes about hereditary breast cancer among diverse breast cancer survivors. Conference Paper
-
Attitudes of high school students toward carrier screening and prenatal diagnosis of cystic fibrosis Academic Article
-
Autosomal dominant hyaline body myopathy in a Saudi Arabian family is linked to chromosome 14q Conference Paper
-
BMC Medical Genomics Journal
-
BRAIN-TARGETED THERAPY FOR MUCOPOLYSACCHARIDOSIS TYPE II DELIVERED BY MICROENCAPSULATED RECOMBINANT CELLS Conference Paper
-
BRCA1 germ-line mutation status, distinctive cell cycle proteins expression and outcome after breast cancer. Conference Paper
-
BRCA2 Variants and cardiovascular disease in a multi-ethnic study Academic Article
-
Baraitser–Winter cerebrofrontofacial syndrome: delineation of the spectrum in 42 cases Academic Article
-
Behavior Genetics: an international journal devoted to research in the inheritance of behavior in animals and man Journal
-
Behavioral and hypothalamic transcriptome analyses reveal sex-specific responses to phenanthrene exposure in the fathead minnow (Pimephales promelas) Academic Article
-
Behavioral characterization and genetic analysis of the Drosophila melanogaster larval response to light as revealed by a novel individual assay. Academic Article
-
Beneficial effects of resveratrol on respiratory chain defects in patients' fibroblasts involve estrogen receptor and estrogen-related receptor alpha signaling Academic Article
-
Bi-allelic Loss of Human APC2, Encoding Adenomatous Polyposis Coli Protein 2, Leads to Lissencephaly, Subcortical Heterotopia, and Global Developmental Delay Academic Article
-
Biallelic variants inWARS2encoding mitochondrial tryptophanyl-tRNA synthase in six individuals with mitochondrial encephalopathy Academic Article
-
Biochemical variability of arylsulphatases‐A,‐B and‐C in cultured fibroblasts from patients with multiple sulphatase deficiency Academic Article
-
Bioinformatic analyses identifies novel protein-coding pharmacogenomic markers associated with paclitaxel sensitivity in NCI60 cancer cell lines Academic Article
-
Biological factor analysis: A three-way (PARAFAC) analysis of twin data. Conference Paper
-
Biotinidase deficiency: Spectrum of molecular, enzymatic and clinical information from newborn screening Ontario, Canada (2007–2014) Academic Article
-
Birth Defects Research Part A: Clinical and Molecular Teratology Journal
-
Blepharophimosis-ptosis-epicanthus inversus syndrome plus Academic Article
-
Bone marrow involvement and obstructive jaundice in Farber lipogranulomatosis: clinical and autopsy report of a new case Academic Article
-
Breakpoint localization of the marker chromosome associated with the cat eye syndrome. Academic Article
-
Breast and ovarian cancer risk perception after prophylactic salpingo-oophorectomy due to an inherited mutation in theBRCA1orBRCA2gene Academic Article
-
Breast cancer gene testing: health care preferences and its costs implications. Conference Paper
-
Bridging clinical care and research in Ontario, Canada: Maximizing diagnoses from reanalysis of clinical exome sequencing data Academic Article
-
CARUNCLE ABNORMALITIES IN OCULO-AURICULO-VERTEBRAL SPECTRUM Conference Paper
-
CAVEATS TO GENETIC-COUNSELING FOR DISEASES WITH DYNAMIC MUTATIONS - MYOTONIC-DYSTROPHY AT ON EXAMPLE Conference Paper
-
CHARACTERIZATION OF THE MATERNAL GENES INVOLVED IN THE SELECTION AGAINST TRISOMY 16 MOUSE FETUSES Conference Paper
-
CHARGE and Kabuki Syndromes: Gene-Specific DNA Methylation Signatures Identify Epigenetic Mechanisms Linking These Clinically Overlapping Conditions Academic Article
-
CHROMOSOMAL FRAGILE SITES IN PATIENTS WITH BIPOLAR AFFECTIVE-DISORDER Conference Paper
-
CHROMOSOME-ABNORMALITIES IN STILLBIRTHS AND NEONATAL DEATHS Conference Paper
-
CHROMOSOME-SPECIFIC HUMAN ALPHA SATELLITE DNA - ISOLATION AND CHARACTERIZATION OF POLYMORPHIC REPEATED DNA FAMILY FROM CHROMOSOME-17 (D17Z1) Conference Paper
-
CK syndrome: another glimpse of neurodevelopmental regulation by cholesterol biosynthesis Conference Paper
-
CLONING OF A BALANCED TRANSLOCATION BREAKPOINT MAPPING IN THE DIGEORGE-SYNDROME CRITICAL REGION Conference Paper
-
COMPLEMENTATION OF ARYLSULFATASE-A IN SOMATIC-CELL HYBRIDS FORMED BY FUSION BETWEEN FIBROBLASTS FROM PATIENTS WITH METACHROMATIC LEUKODYSTROPHY AND MULTIPLE SULFATASE DEFICIENT DISORDER Conference Paper
-
CONGENITAL NEPHROTIC SYNDROME AND BRAIN DYSGENESIS - A NEW SYNDROME Conference Paper
-
CONSTRUCTION OF BRAIN-TARGETED MURINE B-GALACTOSIDASE FOR APPLICATION IN THE TREATMENT OF GM1 GANGLIOSIDOSIS: MOUSE ENZYME LESS SUSCEPTIBLE TO PROTEOLYTIC DEGRADATION THAN HUMAN ENZYME Conference Paper
-
Canadian Open Genetics Repository (COGR): a unified clinical genomics database as a community resource for standardising and sharing genetic interpretations Academic Article
-
Cancer and Pregnancy Outcomes: An Overview of Existing Knowledge and Preliminary Results of a Multicenter Study Conference Paper
-
Carnitine transporter defect due to a novel mutation in the SLC22A5
gene presenting with peripheral neuropathy Academic Article
-
Carrier detection of haemophilia A using DNA markers in families with an isolated affected male Academic Article
-
Carrier frequency of the Smith-Lemli-Opitz IVS8-1GC mutation of the DHCR7 gene in African Americans. Conference Paper
-
Catechol-O-Methyltransferase (COMT) Val 108/158 Metpolymorphism does not modulate executive function in children with ADHD Academic Article
-
Causal Effects of Body Mass Index on Cardiometabolic Traits and Events: A Mendelian Randomization Analysis Academic Article
-
Causal Effects of Body Mass Index on Cardiometabolic Traits and Events: A Mendelian Randomization Analysis Academic Article
-
Centrotemporal sharp wave EEG trait in rolandic epilepsy maps to Elongator Protein Complex 4 (ELP4) Academic Article
-
Cephalometry in adults and children with neurofibromatosis type 1: Implications for the pathogenesis of sphenoid wing dysplasia and the “NF1 facies” Academic Article
-
Challenges and practical solutions for managing secondary genomic findings in primary care Academic Article
-
Characterization of Three Overlapping Deletions Causing X-Linked Lymphoproliferative Disease Academic Article
-
Characterization of clonal chromosome rearrangements using FISH in a cell line derived from ovarian epithelial cancer (EOC). Conference Paper
-
Characterization of patients referred for non-specific intellectual disability testing: the importance of autosomal genes for diagnosis Academic Article
-
Chitayat-Hall and Schaaf-Yang syndromes:a common aetiology: expanding the phenotype of MAGEL2-related disorders Academic Article
-
Chromosome studies at the paediatric necropsy Academic Article
-
Chromosome-specific alpha satellite DNA from human chromosome 1: Hierarchical structure and genomic organization of a polymorphic domain spanning several hundred kilobase pairs of centromeric DNA Academic Article
-
Chromosome-specific alpha satellite DNA: Isolation and mapping of a polymorphic alphoid repeat from human chromosome 10 Academic Article
-
Chronic AMPK activation evokes the slow, oxidative myogenic program and triggers beneficial adaptations in mdx mouse skeletal muscle Academic Article
-
Citizens' perspectives on personalized medicine: a qualitative public deliberation study Academic Article
-
Clinical Diagnosis and Management of Cerebral Palsy Conference Paper
-
Clinical Dysmorphology Journal
-
Clinical Genetics: an international journal of genetics and molecular medicine Journal
-
Clinical and cytogenetic study on 30 meningioma patients referred to Ghaem Hospital, North East of Iran Conference Paper
-
Clinical and molecular delineation of the 17q21.31 microdeletion syndrome Academic Article
-
Clinical features and molecular analysis of the alpha thalassemia/mental retardation syndromes. II. Cases without detectable abnormality of the alpha globin complex. Academic Article
-
Clinical genetics provider real-time workflow study Academic Article
-
Clinical spectrum associated with recurrent genomic rearrangements in chromosome 17q12 Academic Article
-
Clinical, enzymatic and molecular characterization of nine new patients with malonyl‐coenzyme A decarboxylase deficiency Academic Article
-
Cloning and characterization of alternatively spliced isoforms of Dp71 Academic Article
-
Cloning of a balanced translocation breakpoint in the DiGeorge syndrome critical region and isolation of a novel potential adhesion receptor gene in its vicinity Academic Article
-
Cloning of the cDNA and Gene Encoding Mouse Lysosomal Sialidase and Correction of Sialidase Deficiency in Human Sialidosis and Mouse SM/J Fibroblasts Academic Article
-
Cloning of two genes from the 22q11 deletion syndrome proximal critical region. Conference Paper
-
Combinatorial therapeutic activation with heparin and AICAR stimulates additive effects on utrophin A expression in dystrophic muscles Academic Article
-
Common data elements for clinical research in mitochondrial disease: a National Institute for Neurological Disorders and Stroke project Academic Article
-
Common genetic influences identify cognitive and behavioral networks in the Philadelphia Neurodevelopmental Cohort Conference Paper
-
Comparative Biochemistry and Physiology Part D: Genomics and Proteomics Journal
-
Comparative analysis of Shwachman-Diamond syndrome to other inherited bone marrow failure syndromes and genotype-phenotype correlation Academic Article
-
Comparative genomic and functional analyses reveal a novel cis-acting PTEN regulatory element as a highly conserved functional E-box motif deleted in Cowden syndrome Academic Article
-
Comparison of Urinary Acylglycines and Acylcarnitines as Diagnostic Markers of Medium-chain Acyl-CoA Dehydrogenase Deficiency Academic Article
-
Complications of triple pregnancy following intracytoplasmic sperm injection: a case report Academic Article
-
Complications of triple pregnancy following intracytoplasmic sperm injection: a case report Academic Article
-
Comprehensive genetic sequence and copy number analysis for Charcot-Marie-Tooth disease in a Canadian cohort of 2517 patients Academic Article
-
Computational Prediction of Position Effects of Apparently Balanced Human Chromosomal Rearrangements Academic Article
-
Congenital anomalies of the kidney and the urinary tract: A murmansk county birth registry study Academic Article
-
Conserved inserts in the Hsp60 (GroEL) and Hsp70 (DnaK) proteins are essential for cellular growth Academic Article
-
Contribution of SHANK3 Mutations to Autism Spectrum Disorder Academic Article
-
Contribution of SHANK3 mutations to autism spectrum disorder. Academic Article
-
Contribution of common non-synonymous variants in PCSK1 to body mass index variation and risk of obesity: a systematic review and meta-analysis with evidence from up to 331 175 individuals Academic Article
-
Control of RpoS in global gene expression of Escherichia coli in minimal media Academic Article
-
Convergence of Genes and Cellular Pathways Dysregulated in Autism Spectrum Disorders Academic Article
-
Copy number variation in metabolic phenotypes Academic Article
-
Cornelia de Lange syndrome - Prenatal manifestations: Report of four cases. Conference Paper
-
Correction Academic Article
-
Correction to: An autosomal dominant neurological disorder caused by de novo variants in FAR1 resulting in uncontrolled synthesis of ether lipids Academic Article
-
Correction to: Cystic fibrosis–related diabetes onset can be predicted using biomarkers measured at birth Academic Article
-
Correction to: Long-term health-related quality of life in patients treated with subcutaneous C1-inhibitor replacement therapy for the prevention of hereditary angioedema attacks: findings from the COMPACT open-label extension study Academic Article
-
Correction: Corrigendum: The expanding clinical phenotype of Bosch-Boonstra-Schaaf optic atrophy syndrome: 20 new cases and possible genotype–phenotype correlations Academic Article
-
Correspondence Academic Article
-
Corrigendum to “Six novel mutations in the myophosphorylase gene in patients with McArdle disease and a family with pseudo-dominant inheritance pattern” [Mol. Genet. Metab. 104 (2011) 587–591] Academic Article
-
Counseling and support for regional genetics centers in Great Britain Academic Article
-
Covariance of Isometric and Dynamic Arm Contractions: Multivariate Genetic Analysis Academic Article
-
Cowden Syndrome–Affected Patients with PTEN Promoter Mutations Demonstrate Abnormal Protein Translation Academic Article
-
Cross-Reactive DNA Microarray Probes Lead to False Discovery of Autosomal Sex-Associated DNA Methylation Academic Article
-
Cystic fibrosis–related diabetes onset can be predicted using biomarkers measured at birth Academic Article
-
Cytogenetic and Genome Research Journal
-
Cytogenetic comparison of saola <i>(Pseudoryx nghetinhensis)</i> and cattle <i>(Bos taurus)</i> using G- and Q-banding and FISH Academic Article
-
Cytogenetic survey of a hospital for the mentally retarded Academic Article
-
DAX1/SHP family of the nuclear hormone receptor superfamily appears predisposed to sequence variability. Conference Paper
-
DELIVERY OF A NOVEL GENE-PRODUCT THROUGH MICRO-ENCAPSULATED NON-AUTOLOGOUS CELLS Conference Paper
-
DELIVERY OF MOLECULAR-GENETIC SERVICES - CAN FINITE HEALTH-CARE RESOURCES SUPPORT IT Conference Paper
-
DENOVO TRANSLOCATIONS IN A SELECTED POPULATION Conference Paper
-
DHCR7 mutations and genotype-phenotype correlation in 37 Polish patients with Smith-Lemli-Opitz syndrome Academic Article
-
DHCR7 nonsense mutations and characterisation of mRNA nonsense mediated decay in Smith-Lemli-Opitz syndrome Academic Article
-
DOES TANDEMLY REPEATED DNA HAVE A BEGINNING AND AN END - MOLECULAR EVOLUTION OF ALPHA SATELLITE DNA Conference Paper
-
DYNC2H1 hypomorphic or retina-predominant variants cause nonsyndromic retinal degeneration Academic Article
-
Data sharing as a national quality improvement program: reporting on BRCA1 and BRCA2 variant-interpretation comparisons through the Canadian Open Genetics Repository (COGR) Academic Article
-
Data sharing to advance gene‐targeted therapies in rare diseases Academic Article
-
De Novo Mutations in NALCN Cause a Syndrome Characterized by Congenital Contractures of the Limbs and Face, Hypotonia, and Developmental Delay Academic Article
-
De Novo and Inherited Loss-of-Function Variants in TLK2: Clinical and Genotype-Phenotype Evaluation of a Distinct Neurodevelopmental Disorder Academic Article
-
De novo C-terminal truncating mutations in MN1 cause a neurodevelopmental syndrome with distinctive facial features Conference Paper
-
De novo and rare inherited copy-number variations in the hemiplegic form of cerebral palsy Academic Article
-
De novo heterozygous HSPD1 variants: A novel mechanism in hypomyelinating leukodystrophy type 4? Conference Paper
-
De novo missense variants in phosphatidylinositol kinase PIP5KIγ underlie a neurodevelopmental syndrome associated with altered phosphoinositide signaling Academic Article
-
De novo mutations in CSNK2A1 are associated with neurodevelopmental abnormalities and dysmorphic features Academic Article
-
Decision Analysis of Prenatal Testing for Chromosomal Disorders: What Do the Preferences of Pregnant Women Tell Us? Academic Article
-
Decreased ventilator use in a 27-year-old man with late-onset Pompe disease within one year of using alglucosidase-alfa Conference Paper
-
Deep intronic variant in MVK as a cause for mevalonic aciduria initially presenting as non‐syndromic retinitis pigmentosa Academic Article
-
Defining the clinical phenotype of Saul–Wilson syndrome Academic Article
-
Deletion 9q34.3 syndrome: genotype-phenotype correlations and an extended deletion in a patient with features of Opitz C trigonocephaly Academic Article
-
Deletion of tumor necrosis factor-α ameliorates neurodegeneration in Sandhoff disease mice Academic Article
-
Deletion ofMAP2K2/MEK2: a novel mechanism for a RASopathy? Academic Article
-
Delivery of molecular genetic services within a health care system: time analysis of the clinical workload. The Molecular Genetic Study Group. Academic Article
-
Detection of Clinically Relevant Genetic Variants in Autism Spectrum Disorder by Whole-Genome Sequencing Academic Article
-
Detection of Severe Nondeletionalα-Thalassemia Mutations Using a Single-Tube Multiplex ARMS Assay Academic Article
-
Detection of a de novo mutation in a family with SMA Type I: The importance of dosage testing Academic Article
-
Detection of novel centromeric polymorphisms associated with alpha satellite DNA from human chromosome 11 Academic Article
-
Development and Pilot Evaluation of Novel Genetic Educational Materials Designed for an Underserved Patient Population Academic Article
-
DiGeorge syndrome and related syndromes associated with 22q11.2 deletions. A review. Academic Article
-
Diagnosis and high incidence of hyperornithinemia‐hyperammonemia‐homocitrullinemia (HHH) syndrome in northern Saskatchewan Academic Article
-
Diagnosis and management of mitochondrial disease: a consensus statement from the Mitochondrial Medicine Society Academic Article
-
Diagnosis of Complex I Deficiency in Patients with Lactic Acidemia Using Skin Fibroblast Cultures Academic Article
-
Diagnosis of ‘possible’ mitochondrial disease: an existential crisis Academic Article
-
Diagnostic Utility of Genome-wide DNA Methylation Testing in Genetically Unsolved Individuals with Suspected Hereditary Conditions Academic Article
-
Diaspora, migration, and the sciences: a new integrated perspective Academic Article
-
Differential Y‐chromosome Anatolian Influences on the Greek and Cretan Neolithic Academic Article
-
Differential expression and localization of NEU1 and NEU4 in the CNS of mouse models of GM2 gangliosidoses Academic Article
-
Difficulties encountered in a randomization trial of CVS versus amniocentesis for prenatal diagnosis Academic Article
-
Dinucleotide repeat polymorphism at the D21S65 locus Academic Article
-
Direct duplication of 4p14p15.31. Conference Paper
-
Disentangling the autism phenotype; a sib-pair analysis. Conference Paper
-
Disruption of the ASTN2/TRIM32 locus at 9q33.1 is a risk factor in males for autism spectrum disorders, ADHD and other neurodevelopmental phenotypes Academic Article
-
Distribution of CFTR mutations in Saguenay-Lac-Saint-Jean: proposal of a panel of mutations for population screening Academic Article
-
Distribution of CFTR mutations in Saguenay-Lac-Saint-Jean: proposal of a panel of mutations for population screening (vol 10, pg 201, 2008) Academic Article
-
Distribution of CFTR mutations in Saguenay– Lac-Saint-Jean: proposal of a panel of mutations for population screening Academic Article
-
Do commonin silicotools predict the clinical consequences of amino-acid substitutions in the CFTR gene? Academic Article
-
Does family history predict the age at onset of new breast cancers inBRCA1andBRCA2mutation-positive families? Academic Article
-
Double aneuploidy (47,XX,21+-45,X) arising through simultaneous double non-disjunction. Academic Article
-
Dramatically Different Phenotypes in Mouse Models of Human Tay-Sachs and Sandhoff Diseases Academic Article
-
Duplication 1q32-q44 and multiple congenital anomalies. Conference Paper
-
Dysfunctional autophagy impairs muscle regeneration in lysosomal diseases Academic Article
-
Dysmorphic facial features, CNS abnormalities, hand malformations, and myocardial cytomegaly in three female fetuses: A familial fetal neurodegenerative disorder? Conference Paper
-
Dysmorphic features, multiple congenital anomalies, and preaxial polydactyly of feet: Diabetic embryopathy or a malformation syndrome? Conference Paper
-
EBV transformation and cell culturing destabilizes DNA methylation in human lymphoblastoid cell lines Academic Article
-
EFFECT OF BONE-MARROW TRANSPLANT OF THE BEHAVIORAL ABNORMALITIES OF A MURINE MODEL OF MUCOPOLYSACCHARIDOSIS TYPE-VII (SLY DISEASE) Conference Paper
-
EXPRESSION STUDIES OF 2 MISSENSE MUTATIONS IN BETA-GALACTOSIDASE THAT RESULT IN GM1-GANGLIOSIDOSIS Conference Paper
-
Economic Considerations for Health Insurance Coverage of Emerging Genetic Tests Academic Article
-
Economic Evaluations Conducted for Assessment of Genetic Testing Technologies: A Systematic Review Academic Article
-
Ectomorphic body habitus, microcephaly, developmental delay with characteristic facial phenotype Academic Article
-
Effects of Dystrophin Isoforms on Signal Transduction through Neural Retina: Genotype–Phenotype Analysis of Duchenne Muscular Dystrophy Mouse Mutants Academic Article
-
Effects of novel beta-glucocerebrosidase enhancers and pharmacological chaperones on protein stability/dynamics probed by hydrogen-deuterium exchange mass spectrometry Conference Paper
-
Efficient identification of retinoblastoma gene mutations enhances health care. Conference Paper
-
Electrophoretic variants of human 6-phosphogluconate dehydrogenase: population and family studies and description of a new variant Academic Article
-
Endoplasmic reticulum stress derives neurodegeneration in the spinal cord of Sandhoff disease mice Academic Article
-
Erratum Academic Article
-
Erratum to: Common data elements for clinical research in mitochondrial disease: a National Institute for Neurological Disorders and Stroke project Academic Article
-
Establishment of a transcription map in the 22q11.2 microdeletion syndrome critical region. Conference Paper
-
Estimating the clinical cost of drug development for orphan versus non-orphan drugs Academic Article
-
Ethical and legal dilemmas arising during predictive testing for adult-onset disease: the experience of Huntington disease. Academic Article
-
European Journal of Human Genetics Journal
-
European Journal of Medical Genetics Journal
-
European Reference Networks and Guideline Development and Use: Challenges and Opportunities Academic Article
-
Evaluation of DNA Methylation Episignatures for Diagnosis and Phenotype Correlations in 42 Mendelian Neurodevelopmental Disorders Academic Article
-
Evaluation of ductus venosus blood flow as a screening marker for Down syndrome in the first-trimester Conference Paper
-
Evaluation of the quality of clinical data collection for a pan-Canadian cohort of children affected by inherited metabolic diseases: lessons learned from the Canadian Inherited Metabolic Diseases Research Network Academic Article
-
Evidence for synergistic effects of PRNP and ATP7Bmutations in severe neuropsychiatric deterioration Academic Article
-
Evidence synthesis and guideline development in genomic medicine: current status and future prospects Academic Article
-
Evolutionary origins of two tightly linked mutations in arylsulfatase-A pseudodeficiency Academic Article
-
Examining the shared genetic architecture of risk tolerance and related behaviors Conference Paper
-
Excess of deletions of maternal origin in the DiGeorge/Velo-cardio-facial syndromes. A study of 22 new patients and review of the literature Academic Article
-
Exome Sequencing Reveals De Novo WDR45 Mutations Causing a Phenotypically Distinct, X-Linked Dominant Form of NBIA Academic Article
-
Exome Sequencing as a Diagnostic Tool for Pediatric‐Onset Ataxia Academic Article
-
Exome sequencing identifies rare variants in multiple genes in atrioventricular septal defect Academic Article
-
Exosome-mRNA (EXERNA) therapy for Pompe disease Conference Paper
-
Exosome-mRNA and exosome-protein therapy for Niemann-Pick disease type C Conference Paper
-
Exosome-mRNA therapy for Gaucher disease Conference Paper
-
Expanding the Boundaries of RNA Sequencing as a Diagnostic Tool for Rare Mendelian Disease Academic Article
-
Expanding the Boundaries of RNA Sequencing as a Diagnostic Tool for Rare Mendelian Disease Academic Article
-
Expanding the Genetic Spectrum of Cytosolic Phosphoenolpyruvate Carboxykinase Deficiency Conference Paper
-
Experimental hyperphenylalaninemia in the pregnant guinea pig: Possible phenylalanine teratogenesis and p-chlorophenylalanine embryotoxicity Academic Article
-
Expression of the dystrophin isoform Dp71 in differentiating human fetal myogenic cultures Academic Article
-
FAMILY STUDIES FOLLOWING CYTOGENETIC ANALYSIS OF EARLY SPONTANEOUS-ABORTIONS Conference Paper
-
FISH of kidney touch preparation: a useful approach to chromosome studies of products of conception. Conference Paper
-
FULL EXPRESSION OF HUNTERS DISEASE IN A FEMALE WITH AN X-CHROMOSOME DELETION LEADING TO NONRANDOM INACTIVATION Academic Article
-
Familial non-syndromic conotruncal defects are not associated with a 22q11 microdeletion Academic Article
-
Familial pericentric inversion of chromosome 19, inv(19) (p13q13) with a note on genetic counseling of pericentric inversion carriers Academic Article
-
Family system characteristics and psychological adjustment to cancer susceptibility genetic testing: a prospective study Academic Article
-
Filipino ?-thalassemia due to a large deletion: identification of the deletion end points and polymerase chain reaction (PCR)-based diagnosis Academic Article
-
Five novel mutations in the lysosomal sialidase gene (NEU1) in type II sialidosis patients and assessment of their impact on enzyme activity and intracellular targeting using adenovirus-mediated expression Academic Article
-
Five year study of prenatal testing for Huntington's disease: demand, attitudes, and psychological assessment. Academic Article
-
Fixed-bin analysis for statistical evaluation of continuous distributions of allelic data from VNTR loci, for use in forensic comparisons. Academic Article
-
Fumarase deficiency: a rare disorder on the crossroads of clinical and metabolic genetics, neurology and cancer Academic Article
-
Functional rescue of vitamin C synthesis deficiency in human cells using adenoviral-based expression of murine l-gulono-γ-lactone oxidase Academic Article
-
Further localization of X-linked hydrocephalus in the chromosomal region Xq28. Academic Article
-
Galactitol catabolism in Sinorhizobium meliloti is dependent on a chromosomally encoded sorbitol dehydrogenase and a pSymB-encoded operon necessary for tagatose catabolism Academic Article
-
Gaucher disease. III. Substrate specificity of glucocerebrosidase and the use of nonlabeled natural substrates for the investigation of patients. Academic Article
-
Gene symbol: ARSA. Academic Article
-
Gene symbol: ARSA. Academic Article
-
Gene therapy for Fabry disease patients: The importance of efficient biomarker monitoring Conference Paper
-
Gene-centric Meta-analysis in 87,736 Individuals of European Ancestry Identifies Multiple Blood-Pressure-Related Loci Academic Article
-
Gene-centric meta-analyses for central adiposity traits in up to 57 412 individuals of European descent confirm known loci and reveal several novel associations Academic Article
-
Gene-centric meta-analyses of 108 912 individuals confirm known body mass index loci and reveal three novel signals Academic Article
-
Gene-ontology enrichment analysis in two independent family-based samples highlights biologically plausible processes for autism spectrum disorders Academic Article
-
Generation of a genomic tiling array of the human Major Histocompatibility Complex (MHC) and its application for DNA methylation analysis Academic Article
-
Genetic Analysis of 103 Candidate Genes for Coronary Artery Disease and Associated Phenotypes in a Founder Population Reveals a New Association between Endothelin-1 and High-Density Lipoprotein Cholesterol Academic Article
-
Genetic Counseling Journal
-
Genetic Susceptibility to West Nile Virus and Dengue Academic Article
-
Genetic Testing and Molecular Biomarkers Journal
-
Genetic analysis of inherited bone marrow failure syndromes from one prospective, comprehensive and population-based cohort and identification of novel mutations Academic Article
-
Genetic analysis of the maternal factors controlling the survival of trisomy 16 mouse fetuses Academic Article
-
Genetic and Environmental Influences on the Frequency of Orgasm in Women Academic Article
-
Genetic and environmental influences on the frequency of orgasm in women Conference Paper
-
Genetic basis of cannabis use: a systematic review Academic Article
-
Genetic implications and health consequences following the Chernobyl nuclear accident Academic Article
-
Genetic mapping of DNA segments relative to the locus for the fragile-X syndrome at Xq27.3. Academic Article
-
Genetic mapping of X-linked albinism-deafness syndrome (ADFN) to Xq26.3-q27.I. Academic Article
-
Genetic redundancy is prevalent within the 6.7 Mb Sinorhizobium meliloti genome Academic Article
-
Genetic variants at 2q24 are associated with susceptibility to type 2 diabetes Academic Article
-
Genetic variants of MARCO are associated with susceptibility to pulmonary tuberculosis in a Gambian population Academic Article
-
Genetic variations in the quantitative control of erythrocyte glucose‐6‐phosphate dehydrogenase activity Academic Article
-
Genetical studies on a variant of human lactate dehydrogenase (subunit A) Academic Article
-
Genetics and Molecular Biology Journal
-
Genetics in Medicine Journal
-
Gene‐targeted therapies: Towards equitable development, diagnosis, and access Academic Article
-
Genome-wide Association Analysis of Blood-Pressure Traits in African-Ancestry Individuals Reveals Common Associated Genes in African and Non-African Populations Academic Article
-
Genomic DNA Methylation Signatures Enable Concurrent Diagnosis and Clinical Genetic Variant Classification in Neurodevelopmental Syndromes Academic Article
-
Genomic and Genic Deletions of the FOX Gene Cluster on 16q24.1 and Inactivating Mutations of FOXF1 Cause Alveolar Capillary Dysplasia and Other Malformations Academic Article
-
Genomics Journal
-
Genotype and phenotype in 12 additional individuals with SATB2
-associated syndrome Academic Article
-
Genotype-phenotype correlations in recessive RYR1-related myopathies Academic Article
-
Germline Mutations and Variants in the Succinate Dehydrogenase Genes in Cowden and Cowden-like Syndromes Academic Article
-
Glucose levels controlled with an insulin pump in a patient with combined glycogen storage disease type 1a and type 1 diabetes mellitus Conference Paper
-
Good response to chemotherapy (CT) and hormonotherapy (HT) in patients with BRCA1-related breast cancer (BRCA1-BC). Conference Paper
-
Guanidinoacetate methyltransferase (GAMT) deficiency: Outcomes in 48 individuals and recommendations for diagnosis, treatment and monitoring Academic Article
-
Hb FM-Fort Ripley: Confirmation of autosormal dominant inheritance and diagnosis by PCR and direct nucleotide sequencing Academic Article
-
HbVar database of human hemoglobin variants and thalassemia mutations: 2007 update Academic Article
-
HbVar: A relational database of human hemoglobin variants and thalassemia mutations at the globin gene server Academic Article
-
Health effects of the CPT1A P479L variant: responsible public health policy Academic Article
-
Health services use among children diagnosed with medium-chain acyl-CoA dehydrogenase deficiency through newborn screening: a cohort study in Ontario, Canada Academic Article
-
Health-Related Quality-of-Life Assessment of Prenatal Diagnosis: Chorionic Villi Sampling and Amniocentesis Academic Article
-
Health-care providers’ perspectives on uncertainty generated by variant forms of newborn screening targets Academic Article
-
Hepatic gene expression profiling in zebrafish (Danio rerio) exposed to the fungicide chlorothalonil Academic Article
-
Hereditary haemorrhagic telangiectasia: mutation detection, test sensitivity and novel mutations Academic Article
-
Hereditas Journal
-
Heritability of Childhood Music Engagement and Associations with Language and Executive Function: Insights from the Adolescent Brain Cognitive Development (ABCD) Study Academic Article
-
Heterozygous NOTCH1 deletion associated with variable congenital heart defects Academic Article
-
Heterozygous variants in MYH10 associated with neurodevelopmental disorders and congenital anomalies with evidence for primary cilia-dependent defects in Hedgehog signaling Academic Article
-
Holoprosencephaly, sacral anomalies, and situs ambiguus in an infant with partial monosomy 7q/trisomy 2p and SHH
and HLXB9
haploinsufficiency Academic Article
-
Human Biology (Detroit): the international journal of population biology and genetics Journal
-
Human Genetics Journal
-
Human Genomics Journal
-
Human Heredity: international journal of human and medical genetics Journal
-
Human Molecular Genetics Journal
-
Human Mutation Journal
-
Hunter disease (mucopolysaccharidosis type II) in a karyotypically normal girl Academic Article
-
Huntingtin N17 domain is a reactive oxygen species sensor regulating huntingtin phosphorylation and localization Academic Article
-
Huntingtin contains a highly conserved nuclear export signal Academic Article
-
Huntingtin has a membrane association signal that can modulate huntingtin aggregation, nuclear entry and toxicity Academic Article
-
Huntingtin is a scaffolding protein in the ATM oxidative DNA damage response complex Academic Article
-
Hypersensitive PCR, Ancient Human mtDNA, and Contamination Academic Article
-
Hypolipidaemia among patients with PMM2-CDG is associated with low circulating PCSK9 levels: a case report followed by observational and experimental studies Academic Article
-
ICF SYNDROME (IMMUNODEFICIENCY, CENTROMERIC INSTABILITY AND FACIAL ANOMALIES) - INVESTIGATION OF HETEROCHROMATIN ABNORMALITIES AND REVIEW OF CLINICAL OUTCOME Academic Article
-
IDENTIFYING NOVEL PHARMACOLOGICAL CHAPERONES FOR LYSOSOMAL DISEASES USING A HIGH THROUGHPUT APPROACH Conference Paper
-
IN VITRO EFFECT OF NB-DGJ ON ARYLSULFATASE-A DEFICIENT FIBROBLASTS Conference Paper
-
INACTIVATION PROPERTIES AT THE ARYLSULFATASE-C LOCUS Conference Paper
-
INBORN ERRORS OF MUSCLE METABOLISM IMPLICATED IN RISK FOR STATIN-INDUCED MYOPATHY Conference Paper
-
INDUCTION OF FRAGILE SITES BY APHIDICOLIN AND METHOTREXATE IN HUMAN EMBRYONIC-CELLS Conference Paper
-
INTERSTITIAL DELETION OF CHROMOSOME-7 - A CASE-REPORT AND REVIEW OF THE LITERATURE Academic Article
-
Identification and functional analysis ofCITED2 mutations in patients with congenital heart defects Academic Article
-
Identification and in-silico characterization of splice-site variants from a large cardiogenetic national registry Academic Article
-
Identification of Multiple Genetic Susceptibility Loci in Takayasu Arteritis Academic Article
-
Identification of complex DNA polymorphisms based on variable number of tandem repeats (VNTR) and restriction site polymorphism Academic Article
-
Identification of interstitial maternal uniparental disomy (UPD) (14) and complete maternal UPD(20) in a cohort of growth retarded patients Academic Article
-
Identification of nine novel arylsulfatase a (ARSA) gene mutations in patients with metachromatic leukodystrophy (MLD) Academic Article
-
Identification of nine novelDHCR7 missense mutations in patients with Smith-Lemli-Opitz syndrome (SLOS) Academic Article
-
Identification of susceptibility loci for Takayasu arteritis through a large multi-ancestral genome-wide association study Academic Article
-
Identification of twelve new arylsulfatase A gene mutations in metachromatic leukodystrophy (MILD) patients. Conference Paper
-
Identification of two novel β°-thalassemia mutations in a filipino family: Frameshift codon 67 (− TG) and a β-globin gene deletion Academic Article
-
Identifying genetically informative phenotypes in autism spectrum disorders (ASD). Conference Paper
-
Identifying gene–gene interactions that are highly associated with four quantitative lipid traits across multiple cohorts Academic Article
-
Immunochip Analysis Identifies Multiple Susceptibility Loci for Systemic Sclerosis Academic Article
-
Impact of Maternal Overweight during Pregnancy on the Newborn Gut Microbiome Conference Paper
-
Improving diagnostic precision, care and syndrome definitions using comprehensive next-generation sequencing for the inherited bone marrow failure syndromes Academic Article
-
Incidence of Smith-Lemli-Opitz syndrome in Canada: results of a 36 month surveillance program. Conference Paper
-
Indian Journal of Human Genetics Journal
-
Individual and family characteristics associated with protein truncating BRCA1 and BRCA2 mutations in an Ontario population based series from the Cooperative Family Registry for Breast Cancer Studies Academic Article
-
Individual common variants exert weak effects on the risk for autism spectrum disorders Academic Article
-
Induction of the interleukin 6/ signal transducer and activator of transcription pathway in the lungs of mice sub-chronically exposed to mainstream tobacco smoke Academic Article
-
Influence of Genetic Ancestry on Human Serum Proteome Conference Paper
-
Information needs of women at risk for hereditary breast cancer. Conference Paper
-
Integrating GWAS of ADHD and continuous ADHD-related traits Conference Paper
-
Interspecific comparisons of 35 nuclear receptor superfamily members show the NROB subfamily to be permissive for sequence variability. Conference Paper
-
Interstitial 22q11 microdeletion excluding the ADU breakpoint in a patient with DiGeorge syndrome Academic Article
-
Is there an effect of intranasal insulin on development and behaviour in Phelan-McDermid syndrome? A randomized, double-blind, placebo-controlled trial Academic Article
-
Isolation and Mapping of 45 NotI Linking Clones to Chromosome 22 Academic Article
-
Isolation and characterization of polymorphic microsatellite loci in plainfin midshipman fish Academic Article
-
Isolation of MECP2-null Rett Syndrome patient hiPS cells and isogenic controls through X-chromosome inactivation Academic Article
-
Isolation of a novel gene from the DiGeorge syndrome critical region with homology to Drosophila gdl and to human LAMC1 genes Academic Article
-
Isolation of a zinc finger gene consistently deleted in DiGeorge syndrome Academic Article
-
Journal of Genetic Counseling Journal
-
Journal of Human Genetics Journal
-
Journal of Inherited Metabolic Disease Journal
-
Journal of Medical Genetics Journal
-
K45R variant of squalene synthase increases total cholesterol levels in two study samples from a French Canadian population Academic Article
-
Ketogenic therapy as an adjunct to ERT for Pompe disease Conference Paper
-
Key terms and definitions in acute porphyrias: Results of an international Delphi consensus led by the European porphyria network Academic Article
-
Kinematic Analysis of Drosophila Larval Locomotion in Response to Intermittent Light Pulses Academic Article
-
LACK OF EXPANSION OF TRIPLET REPEATS IN THE FMR1, FRAXE, AND FRAXF GENES IN MULTIPLEX MALE FAMILIES WITH AUTISM AND PERVASIVE DEVELOPMENTAL DISORDERS Conference Paper
-
LINKAGE OF MULTIPLE ENDOCRINE NEOPLASIA TYPE-2A (MEN2A) AND A NEW DNA MARKER (D10S5) AT 10Q21.1 Conference Paper
-
LIVER DYSFUNCTION IMPROVING WITH FRUCTOSE RESTRICTION IN A PATIENT WITH ABNORMAL ISOELECTRIC FOCUSING OF SERUM GLYCOPROTEINS: A CASE REPORT Conference Paper
-
Large-Scale Gene-Centric Meta-Analysis across 39 Studies Identifies Type 2 Diabetes Loci Academic Article
-
Large-Scale Gene-Centric Meta-Analysis across 39 Studies Identifies Type 2 Diabetes Loci Academic Article
-
Large-Scale Gene-Centric Meta-analysis across 32 Studies Identifies Multiple Lipid Loci Academic Article
-
Large-scale genetic study of risk tolerance and risky behaviors identifies new loci and reveals shared genetic influences Conference Paper
-
Late diagnosis of maternal glutaric acidemia type 1 through expanded newborn screening Conference Paper
-
Linkage analysis of a DNA marker localized to 20p12 and multiple endocrine neoplasia type 2A. Academic Article
-
Linkage analysis of seven kindreds with the X-linked lymphoproliferative syndrome (XLP) confirms that the XLP locus is near DXS42 and DXS37 Academic Article
-
Linkage disequilibrium and modification of risk for Huntington disease. Academic Article
-
Live cell imaging and biophotonic methods reveal two types of mutant huntingtin inclusions Academic Article
-
Localization and linkage of three polymorphic DNA sequences on human chromosome 20 Academic Article
-
Localization by FISH of the 31 Texas nomenclature type I markers to both Q- and R-banded bovine chromosomes Academic Article
-
Localization of dystrophin isoform Dp71 to the inner limiting membrane of the retina suggests a unique functional contribution of Dp71 in the retina Academic Article
-
Loci Related to Metabolic-Syndrome Pathways Including LEPR,HNF1A, IL6R, and GCKR Associate with Plasma C-Reactive Protein: The Women's Genome Health Study Academic Article
-
Loci influencing blood pressure identified using a cardiovascular gene-centric array Academic Article
-
Loci influencing blood pressure identified using a cardiovascular gene-centric array Academic Article
-
Long-Term Follow-up for Patients with Mitochondrial Carbonic Anhydrase 5A Deficiency Conference Paper
-
Long-chain hydroxydicarboxylic aciduria, carnitine depletion and acetaminophen exposure Academic Article
-
Long-term correction of sialidase deficiency in cells and mice by recombinant helper-dependent adenovirus-mediated gene transfer. Conference Paper
-
Long-term health-related quality of life in patients treated with subcutaneous C1-inhibitor replacement therapy for the prevention of hereditary angioedema attacks: findings from the COMPACT open-label extension study Academic Article
-
Low expression of long-chain acyl-CoA dehydrogenase in human skeletal muscle Academic Article
-
Low‐depth sequencing for copy number abnormalities in multiple myeloma supersedes fluorescent in situ hybridization in scope and resolution Academic Article
-
MAPPING OF A REPETITIVE 1.8 KB KPNL SEQUENCE TO THE SHORT ARM OF CHROMOSOME-15 Conference Paper
-
MG-119 The evolving features of nicolaides-baraitser syndrome – a case report of a twenty-years follow-up Academic Article
-
MG-123 Exonic and intronic NRXN1 deletions: Novel genotype-phenotype correlations Academic Article
-
MG-143 Age is significantly associated with the bone marrow engraftment in patients with allogeneic stem cell transplantation Academic Article
-
MICROENCAPSULATED BRAIN-TARGETED THERAPY FOR METACHROMATIC LEUKODYSTROPHY Conference Paper
-
MOLECULAR ANALYSIS OF THE SUPERNUMERARY CHROMOSOME IN CAT EYE SYNDROME Conference Paper
-
MOLECULAR AND GENETIC-CHARACTERIZATION OF CHROMOSOME-SPECIFIC SUBSETS OF HUMAN ALPHA-SATELLITE DNA Conference Paper
-
MORBIDITY RISKS IN MOOD DISORDERS Conference Paper
-
Macrocephaly, growth failure, translucent skin, renal cysts, coarctation of the aorta, and cholestasis: novel features of a new syndrome – the del17q12 syndrome Academic Article
-
Magnetic resonance findings may aid in diagnosis of protracted febrile myalgia syndrome: a retrospective, multicenter study Academic Article
-
Mammalian Genome Journal
-
Manitoba-oculo-tricho-anal (MOTA) syndrome is caused by mutations in FREM1 Academic Article
-
Mapping of the human adenylosuccinate lyase (ADSL) gene to chromosome 22q13.1→q13.2 Academic Article
-
Mapping of the metalloproteinase gene matrilysin (MMP7) to human chromosome 11q21→q22 Academic Article
-
Maternal History of Oceania from Complete mtDNA Genomes: Contrasting Ancient Diversity with Recent Homogenization Due to the Austronesian Expansion Academic Article
-
Maternal Uniparental Isodisomy of Human Chromosome 14 Associated with a Paternal t(13q14q) and Precocious Puberty Academic Article
-
Maximum Likelihood Estimation of Genetic, Environmental and Phenotypic Factor Scores Conference Paper
-
Measurement of urine porphyrins and porphyrinogens Academic Article
-
Medizinische Genetik Journal
-
Meiotic analysis of a pericentric inversion, inv(7) (p22q32), in the father of a child with a duplication-deletion of chromosome 7 Academic Article
-
Meta-analysis of Dense Genecentric Association Studies Reveals Common and Uncommon Variants Associated with Height Academic Article
-
Meta-analysis of Dense Genecentric Association Studies Reveals Common and Uncommon Variants Associated with Height Academic Article
-
Meta-analysis of SNPs involved in variance heterogeneity using Levene’s test for equal variances Academic Article
-
Meta-analysis of genetic association studies under heterogeneity Academic Article
-
Microarray analysis of RpoS-mediated gene expression in Escherichia coli K-12 Academic Article
-
Microassay of tyrosine-amino transferase and p-hydroxyphenylpyruvic acid oxidase in mammalian liver and patients with hereditary tyrosinemia Academic Article
-
Miglustat as a therapeutic agent: prospects and caveats Academic Article
-
Missense variants in the N-terminal domain of the A isoform of FHF2/FGF13 cause an X-linked developmental and epileptic encephalopathy Academic Article
-
Mitochondrial Disease Sequence Data Resource (MSeqDR): A global grass-roots consortium to facilitate deposition, curation, annotation, and integrated analysis of genomic data for the mitochondrial disease clinical and research communities Academic Article
-
Modifier gene study of meconium ileus in cystic fibrosis: statistical considerations and gene mapping results Academic Article
-
Modulation of 5-hydroxytryptamine 4 (5HT4) receptor isoform expression predisposes to atrial fibrillation after coronary artery bypass surgery. Conference Paper
-
Molecular Analysis and Prenatal Diagnosis of Human Fumarase Deficiency Academic Article
-
Molecular Genetics and Genomics: an international journal Journal
-
Molecular Genetics and Metabolism Journal
-
Molecular Polymorphism and Divergence of Duplicated Genes in Tetraploid African Clawed Frogs <b><i>(Xenopus)</i></b> Academic Article
-
Molecular analysis and genotype-phenotype correlation of Diamond-Blackfan anemia Academic Article
-
Molecular characterization of NRXN1 deletions from 19,263 clinical microarray cases identifies exons important for neurodevelopmental disease expression Academic Article
-
Molecular characterization of chromosome 4p inversion breakpoints in two autistic siblings. Conference Paper
-
Molecular cloning of thentrA gene of the broad host-rangeRhizobium sp. NGR234, and phenotypes of a site-directed mutant Academic Article
-
Molecular cytogenetic analysis of a series of 23 DiGeorge syndrome patients by fluorescence in situ hybridization. Academic Article
-
Molecular diagnosis of Smith-Lemli-Opitz syndrome (SLOS) in a fetus with renal agenesis. Conference Paper
-
Molecular genetic analysis of severe protein C deficiency. Academic Article
-
Molecular genetic study of three patients with the 22q11 deletion syndrome. Conference Paper
-
Molecular organization and haplotype analysis of centromeric DNA from human chromosome 17: Implications for linkage in neurofibromatosis Academic Article
-
Molecular, biochemical and clinical aspects of Smith-Lemli-Opitz syndrome in Cuban patients. Conference Paper
-
Monocarboxylate transporters and mitochondrial creatine kinase protein content in McArdle disease Academic Article
-
Monosomy 1p36: deletions and rearrangements. Conference Paper
-
Monosomy 1pter syndrome: A case report. Conference Paper
-
Monosomy for the most telomeric, gene-rich region of the short arm of human chromosome 16 causes minimal phenotypic effects Academic Article
-
Mosaic Activating Mutations in FGFR1 Cause Encephalocraniocutaneous Lipomatosis Academic Article
-
Mosaic sex chromosome anomalies in a normal appearing male newborn: prenatal and postnatal molecular cytogenetics studies. Conference Paper
-
Mosaicism of the UDP-Galactose Transporter SLC35A2 Causes a Congenital Disorder of Glycosylation Academic Article
-
Mucolipidosis II. The clinical, radiological and biochemical features in three cases Academic Article
-
Multidisciplinary study of in utero presentation of fetal GM1 gangliosidosis at 17 weeks gestation. Conference Paper
-
Multigene panels in prostate cancer risk assessment: a systematic review Academic Article
-
Multilocus loss of DNA methylation in individuals with mutations in the histone H3 Lysine 4 Demethylase KDM5C Academic Article
-
Multiprobe fluorescence in situ hybridisation (FISH) telomere assay detects cryptic chromosome rearrangements in the alpha thalassaemia mental retardation (ATR-16) syndrome. Conference Paper
-
Murine Hn1 on Chromosome 11 is expressed in hemopoietic and brain tissues Academic Article
-
Murine β-galactosidase stability is not dependent on temperature or protective protein/cathepsin A Academic Article
-
Mutant huntingtin causes defective actin remodeling during stress: defining a new role for transglutaminase 2 in neurodegenerative disease Academic Article
-
Mutations in EBF3 Disturb Transcriptional Profiles and Cause Intellectual Disability, Ataxia, and Facial Dysmorphism Academic Article
-
Mutations in EBF3 disturb transcriptional profiles and cause intellectual disability, ataxia, and facial dysmorphism Conference Paper
-
Mutations in POLRMT impair mitochondrial transcription and are associated with a spectrum of mitochondrial disease presentations Conference Paper
-
Mutations in SRCAP, Encoding SNF2-Related CREBBP Activator Protein, Cause Floating-Harbor Syndrome Academic Article
-
Mutations in TBCK, Encoding TBC1-Domain-Containing Kinase, Lead to a Recognizable Syndrome of Intellectual Disability and Hypotonia Academic Article
-
Mutations in the Chromatin Regulator Gene BRPF1 Cause Syndromic Intellectual Disability and Deficient Histone Acetylation Academic Article
-
Mutations inSYNGAP1Cause Intellectual Disability, Autism, and a Specific Form of Epilepsy by Inducing Haploinsufficiency Academic Article
-
NCAM1-TTC12-ANKK1-DRD2 variants and smoking motives as novel intermediate phenotypes for nicotine dependence Conference Paper
-
NEPHRO-BLASTOMA AND THE 11P- CHROMOSOME Conference Paper
-
NEW INVITRO VARIANT OF METHYLMALONIC ACIDEMIA (MM-EMIA) Conference Paper
-
NEW METHOD FOR NON-SELECTIVE ISOLATION OF HYBRIDS BETWEEN HUMAN DIPLOID FIBROBLASTS Conference Paper
-
Natural disease course and genotype-phenotype correlations in Complex I deficiency caused by nuclear gene defects: what we learned from 130 cases Academic Article
-
Natural history of the organic acidurias? A call for information Academic Article
-
Neurodevelopment of Children Exposed In Utero to Venlafaxine: Preliminary Results Conference Paper
-
Neurodevelopment of Children Exposed In Utero to Venlafaxine; Children Exposed to SSRIs and Non-teratogens as Comparison Groups Conference Paper
-
Neurodevelopment of children exposed to antidepressant medications during gestation: A critical overview and meta-analysis. Conference Paper
-
Neurodevelopmental copy-number variants: A roadmap to improving outcomes by uniting patient advocates, researchers, and clinicians for collective impact Academic Article
-
Neuronal pentraxin 1 depletion delays neurodegeneration and extends life in Sandhoff disease mice Academic Article
-
New insights into DNA methylation signatures: SMARCA2 variants in Nicolaides-Baraitser syndrome Academic Article
-
No longer just an intermediate: Cystathionine protects against endoplasmic reticulum stress induced lipid accumulation and apoptotic cell death Conference Paper
-
Non-invasive prenatal diagnosis of beta-thalassemia by mass spectrometric analysis of fetal DNA in maternal plasma. Conference Paper
-
Non-random association between alleles detected at D4S95 and D4S98 and the Huntington's disease gene. Academic Article
-
Novel (cys152>arg) missense mutation in an Arab patient with Canavan disease Academic Article
-
Novel GNE Mutations in Autosomal Recessive Hereditary Inclusion Body Myopathy Patients Academic Article
-
Novel LMNA mutations seen in patients with familial partial lipodystrophy subtype 2 (FPLD2; MIM 151660) Academic Article
-
Novel and recurrent EMD mutations in patients with Emery–Dreifuss muscular dystrophy, identify exon 2 as a mutation hot spot Academic Article
-
Novel craniofacial and extracraniofacial findings in a case of Treacher Collins syndrome with a pathogenic mutation and a missense variant in the TCOF1 gene Academic Article
-
Novel seventeen basepair deletion in exon 3 of the β-globin gene Academic Article
-
Nutritional co-therapy with 1,3-butanediol and multi-ingredient antioxidants enhances autophagic clearance in Pompe disease Academic Article
-
OCULAR MANIFESTATIONS OF JACOBSEN SYNDROME (11Q-) Conference Paper
-
OTUD7A Regulates Neurodevelopmental Phenotypes in the 15q13.3 Microdeletion Syndrome Academic Article
-
OTUD7A regulates neurodevelopmental phenotypes in the 15q13.3 microdeletion syndrome Conference Paper
-
Odds-ratio regression models for testing joint transmission of candidate genes for tuberculosis. Conference Paper
-
Oligogenic segregation analysis of obesity-related traits in hypertensive families from a French-Canadian isolate. Conference Paper
-
Organization and genomic distribution of ?82H? alpha satellite DNA Academic Article
-
Orphanet Journal of Rare Diseases Journal
-
Outcomes in pediatric studies of medium-chain acyl-coA dehydrogenase (MCAD) deficiency and phenylketonuria (PKU): a review Academic Article
-
Ovarian Failure Related to Eukaryotic Initiation Factor 2B Mutations Academic Article
-
Oxidative stress and Nrf2 signaling in McArdle disease Academic Article
-
PATHOLOGICAL EXAMINATION OF THE LUNG IN A FABRY PATIENT ON ENZYME REPLACEMENT THERAPY Conference Paper
-
PROGRAM DESCRIPTION Academic Article
-
PSEUDO ARYLSULFATASE-A DEFICIENCY DISORDER - A GENETIC AND BIOCHEMICAL EXPLANATION Conference Paper
-
Pallister-Killian syndrome due to a novel chromosome abnormality: A case of 12p intrachromosomal triplication. Conference Paper
-
Paraspinal ganglioneuroma in the proband of a large family with mild cutaneous manifestations of NF1, carrying a deepNF1intronic mutation Academic Article
-
Parents’ Understanding of Genetics and Heritability Academic Article
-
Partial and complete trisomy 9: Delineation of a trisomy 9 syndrome Academic Article
-
Partial monosomy 1q43 and partial trisomy 20q13.2: a case report Academic Article
-
Pathogenic variants in USP7 cause a neurodevelopmental disorder with speech delays, altered behavior, and neurologic anomalies Academic Article
-
Patient care standards for primary mitochondrial disease: a consensus statement from the Mitochondrial Medicine Society Academic Article
-
Penetrance of Polygenic Obesity Susceptibility Loci across the Body Mass Index Distribution Academic Article
-
Penetrance of biallelic SMARCAL1 mutations is associated with environmental and genetic disturbances of gene expression Academic Article
-
Perceptions About Genetic Testing for the Susceptibility to Alcohol Dependence and Other Multifactorial Diseases Academic Article
-
Performance of the eHealth decision support tool, MIPOGG, for recognising children with Li-Fraumeni, DICER1, Constitutional mismatch repair deficiency and Gorlin syndromes Academic Article
-
Perrault Syndrome Is Caused by Recessive Mutations in CLPP, Encoding a Mitochondrial ATP-Dependent Chambered Protease Academic Article
-
Personalized medicine - the promised land: are we there yet? Academic Article
-
Phalangeal hypoplasia, mental retardation, agenesis of the corpus callosum, brainstem abnormalities and ectopic grey matter: unique case or newly recognized syndrome? Academic Article
-
PhenCode: connecting ENCODE data with mutations and phenotype Academic Article
-
Phenotypic spectrum associated with de novo and inherited deletions and duplications at 16p11.2 in individuals ascertained for diagnosis of autism spectrum disorder Academic Article
-
Phenotypic spectrum associated with duplication of Xp11.22-p11.23 includes Autism Spectrum Disorder Academic Article
-
Phylogeographic genomics of mitochondrial DNA: Highly-resolved patterns of intraspecific evolution and a multi-species, microarray-based DNA sequencing strategy for biodiversity studies Academic Article
-
Physical Mapping of 30 CA Repeats on Human Chromosome 22 Academic Article
-
Physical mapping by FISH of the DiGeorge critical region (DGCR): involvement of the region in familial cases. Academic Article
-
PlexinA polymorphisms mediate the developmental trajectory of human corpus callosum microstructure Academic Article
-
Polygenic determinants of severe hypertriglyceridemia Academic Article
-
Polyploidy in Amphibia Academic Article
-
Practice guidelines for BRCA1/2 tumour testing in ovarian cancer Academic Article
-
Predictive power of individual genetic and environmental factor scores Academic Article
-
Preface Academic Article
-
Preferences for prenatal tests for Down syndrome: an international comparison of the views of pregnant women and health professionals Academic Article
-
Pregnancy outcome and cognitive development of children exposed in utero to cyclosporine following maternal renal transplant Conference Paper
-
Prenatal detection and perinatal management of a giant cervical teratoma. Conference Paper
-
Prenatal diagnosis by FISH of a 22q11 deletion in two families. Academic Article
-
Prenatal growth restriction, retinal dystrophy, diabetes insipidus and white matter disease: expanding the spectrum of PRPS1-related disorders Academic Article
-
Prenatal level II mosaic marker representing true fetal mosaicism: What is the lesson? Conference Paper
-
Prenatal screening for aneuploidy using maternal blood spots on filter paper in the first and second trimester. Conference Paper
-
Prenatally detected triploidy/trisomy 7 mosaic. Conference Paper
-
Prevalence of meconium ileus marks the severity of mutations of the Cystic Fibrosis Transmembrane Conductance Regulator (CFTR) gene Academic Article
-
Proceed with care: direct predictive testing for Huntington disease. Academic Article
-
Protein C deficiency and thromboembolism: recurrent mutation at Arg 306 in the protein C gene Academic Article
-
Psychological consequences and predictors of adverse events in the first 5 years after predictive testing for Huntington's disease Academic Article
-
Psychosocial issues of burden for genetic conditions in the Chinese population. Conference Paper
-
Public Health Genomics Journal
-
Quality and content of abstracts in papers reporting about drug exposures during pregnancy Academic Article
-
RAPID IMMUNOCYTOLOGICAL SCREENING FOR ADULT CARRIERS OF THE SOUTHEAST-ASIAN ALPHA-THALASSEMIA-1 DELETION (SEA) Conference Paper
-
RARE-Bestpractices: a platform for sharing best practices for the management of rare diseases Conference Paper
-
RESIDUAL ARYLSULFATASE-A ACTIVITY IN FIBROBLASTS FROM PATIENTS WITH METACHROMATIC LEUKODYSTROPHY Conference Paper
-
RESVERATROL FOR THE CORRECTION OF MITOCHONDRIAL DISORDERS Conference Paper
-
Rank-based genome-wide analysis reveals the association of Ryanodine receptor-2 gene variants with childhood asthma among human populations Academic Article
-
Rare DNA copy number variants in cardiovascular malformations with extracardiac abnormalities Academic Article
-
Rare Deletions at the Neurexin 3 Locus in Autism Spectrum Disorder Academic Article
-
Rare exonic deletions implicate the synaptic organizer Gephyrin (GPHN) in risk for autism, schizophrenia and seizures Academic Article
-
Reciprocal deletion and duplication at 2q23.1 indicates a role for MBD5 in autism spectrum disorder Academic Article
-
Recombination, mutation, or constitutive expression at a Gm locus and familial hypergammaglobulinemia. Academic Article
-
Reconstitution of Wild-Type or Mutant Telomerase Activity in Telomerase-Negative Immortal Human Cells Academic Article
-
Refinement of the critical 2p25.3 deletion region: the role of MYT1L in intellectual disability and obesity Academic Article
-
Regional localization of 18 human X-linked DNA sequences Academic Article
-
Reply to Sharpe Academic Article
-
Repopulation of ?0 cells with mitochondria from a patient with a mitochondrial DNA point mutation in tRNAGly results in respiratory chain dysfunction Academic Article
-
Report of the first patient with a homozygous OTUD7A variant responsible for epileptic encephalopathy and related proteasome dysfunction Academic Article
-
Response to Newman et al. Academic Article
-
Return of Genomic Results to Research Participants: The Floor, the Ceiling, and the Choices In Between Academic Article
-
Return of genetic and genomic research findings: experience of a pediatric biorepository Academic Article
-
Risk Reversals in Predictive Testing for Huntington Disease Academic Article
-
RpoS regulation of gene expression during exponential growth of Escherichia coli K12 Academic Article
-
SECRETION OF HUMAN FACTOR-IX THROUGH MICRO-ENCAPSULATED RECOMBINANT FIBROBLASTS Conference Paper
-
SHANK1 Deletions in Males with Autism Spectrum Disorder Academic Article
-
SHORT-TERM BIOLOGICAL VARIANCE OF PHE IN PATIENTS WITH PHENYLKETONURIA Conference Paper
-
SLOS carrier frequency in Poland as determined by screening for Trp151X and Val326Leu DHCR7 mutations Academic Article
-
SNPs in the neural cell adhesion molecule 1 gene (NCAM1) may be associated with human neural tube defects Academic Article
-
SOLID ORGAN 'TRANSPLANTATION IN MITOCHONDRIAL DISEASE: PROCEED WITH CAUTION Conference Paper
-
SONOGRAPHIC FINDINGS IN HOMOZYGOUS ALPHA-DEGREES THALASSEMIA PRIOR TO THE ONSET OF HYDROPS Conference Paper
-
SPECTRUM OF ANOMALIES IN THE MECKEL SYNDROME Conference Paper
-
SPECTRUM OF BETA-THALASSEMIA MUTATIONS IN GREEK-CANADIANS - IDENTIFICATION OF A NOVEL CIRCLE-THALASSEMIA MUTATION, FRAMESHIFT CODONS 9/10(+T) Conference Paper
-
SPEN haploinsufficiency causes a neurodevelopmental disorder overlapping proximal 1p36 deletion syndrome with an episignature of X chromosomes in females Academic Article
-
ST3GAL3 Mutations Impair the Development of Higher Cognitive Functions Academic Article
-
Screening for HHH syndrome in northern Saskatchewan Conference Paper
-
Screening of aneuploldy using maternal blood spots in the first and second trimester Conference Paper
-
Selecting a BRCA risk assessment model for use in a familial cancer clinic Academic Article
-
Sensitive and Efficient Detection of RB1 Gene Mutations Enhances Care for Families with Retinoblastoma Academic Article
-
Sequence overlap between autosomal and sex-linked probes on the Illumina HumanMethylation27 microarray Academic Article
-
Serum cholesterol and suicidality in Smith-Lemli-Opitz syndrome heterozygotes Conference Paper
-
Severe hemihypotrophy in a female infant with mosaic Turner syndrome: a variant of Russell???Silver syndrome? Academic Article
-
Severe intellectual disability and autistic features associated with microduplication 2q23.1 Academic Article
-
Severe knee hyperextension in a fetus with trisomy 21: Association or coincidence? Conference Paper
-
Severe neurocognitive and growth disorders due to variation in THOC2
, an essential component of nuclear mRNA export machinery Academic Article
-
Severe prenatal growth retardation, dysmorphic features, pigmentary retinopathy, and generalized absence of subcutaneous tissues: a new entity? Academic Article
-
Sialidase-mediated depletion of GM2 ganglioside in Tay-Sachs neuroglia cells Academic Article
-
Site-directed mutagenesis and DNA sequence of pckA of Rhizobium NGR234, encoding phosphoenolpyruvate carboxykinase: gluconeogenesis and host-dependent symbiotic phenotype Academic Article
-
Six new patients with malonyl-CoA decarboxylase (MCD) deficiency: expanding the phenotypic heterogeneity. Conference Paper
-
Six novel mutations in the myophosphorylase gene in patients with McArdle disease and a family with pseudo-dominant inheritance pattern Academic Article
-
Sjogren-Larsson syndrome: Motor performance and everyday functioning Conference Paper
-
Smith-Lemli-Opitz syndrome: carrier frequency and spectrum of DHCR7 mutations in Canada Academic Article
-
Smith–Lemli–Opitz syndrome and other disorders of cholesterol biosynthesis: An introduction Academic Article
-
Smith–Lemli–Opitz syndrome with a classical phenotype, oesophageal achalasia and borderline plasma sterol concentrations Academic Article
-
Smith–Lemli–Opitz syndrome: Phenotype, natural history, and epidemiology Academic Article
-
Sociability in Fruit Flies: Genetic Variation, Heritability and Plasticity Academic Article
-
Solid organ transplantation in primary mitochondrial disease: Proceed with caution Academic Article
-
Somatic cell hybridization studies on the genetic regulation and allelic mutations in metachromatic leukodystrophy Academic Article
-
Spinocerebellar Ataxia Type 1 protein Ataxin-1 is signaled to DNA damage by ataxia-telangiectasia mutated kinase Academic Article
-
Spinocerebellar ataxia type 29 due to mutations in ITPR1: a case series and review of this emerging congenital ataxia Academic Article
-
Staying informed and recontacting patients about research advances: a study of patient attitudes. Academic Article
-
Structural Variation of Chromosomes in Autism Spectrum Disorder Academic Article
-
Structure and regulation of the cystic fibrosis transmembrane conductance regulator (CFTR) gene in killifish: A comparative genomics approach Academic Article
-
Sub-lethal effects of calcium dinonylnaphthalenesulfonate on Western clawed frog embryos Academic Article
-
Supradiaphragmatic accessory lobe of the liver in BB Wistar rats Academic Article
-
Symmetrical upper limb peromelia and lower limb phocomelia associated with a de novo apparently balanced reciprocal translocation: 46,XX,t(2;12)(p25.1;q24.1) Academic Article
-
THE EXTRA CHROMOSOME IN CAT EYE SYNDROME (CES) IS DERIVED FROM CHROMOSOME-22 - EVIDENCE FROM INSITU HYBRIDIZATION OF A CHROMOSOME-22 SPECIFIC DNA PROBE Conference Paper
-
THE GENE FOR NF1 (VON RECKLINGHAUSEN NEUROFIBROMATOSIS) IS ON CHROMOSOME-17 NEAR THE CENTROMERE Conference Paper
-
THE SCOTTISH-CHILDRENS-TUMOUR-REGISTER - CLINICAL, PATHOLOGICAL AND CYTOGENETIC CONSIDERATIONS Conference Paper
-
TOWARDS A LINKAGE MAP OF CHROMOSOME-20 Conference Paper
-
TRANSIENT NEONATAL HYPERPARATHYROIDISM: A PRESENTING FEATURE OF SIALIDOSIS TYPE II Conference Paper
-
TRINUCLEOTIDE REPEAT POLYMORPHISM IN THE ANTITHROMBIN-III GENE - ALLELE FREQUENCY DATA FOR 3 POPULATION GROUPS Conference Paper
-
Targeting TEAD/YAP-transcription-dependent necrosis, TRIAD, ameliorates Huntington’s disease pathology Academic Article
-
Telomere maintenance by telomerase and by recombination can coexist in human cells Academic Article
-
Telomeric FISH analysis: the use of telomeric probes for the characterisation of visible chromosome rearrangements using fluorescence in situ hybridization. Conference Paper
-
Temtamy Preaxial Brachydactyly Syndrome Is Caused by Loss-of-Function Mutations in Chondroitin Synthase 1, a Potential Target of BMP Signaling Academic Article
-
Ten new patients with malonyl-coenzyme a decarboxylase (MCD) deficiency Conference Paper
-
Testing for maternal and fetal effects in autism. Conference Paper
-
Testing personalized medicine: patient and physician expectations of next-generation genomic sequencing in late-stage cancer care Academic Article
-
Thalassemia in Sri Lanka: a progress report Academic Article
-
The Duty to Recontact: Attitudes of Genetics Service Providers Academic Article
-
The Duty to Recontact: Benefit and Harm Academic Article
-
The Gene Encoding p120cas, a Novel Catenin, Localizes on Human Chromosome 11q11 (CTNND) and Mouse Chromosome 2 (Catns) Academic Article
-
The GoodHope Ehlers Danlos Syndrome Clinic: development and implementation of the first interdisciplinary program for multi-system issues in connective tissue disorders at the Toronto General Hospital Academic Article
-
The Sensitivity of Variance Component Estimates to Underreporting: Method and Application to Substance Abuse Data Academic Article
-
The Smith-Lemli-Opitz syndrome: a novel metabolic way of understanding developmental biology, embryogenesis, and dysmorphology Academic Article
-
The Telomere Lengthening Mechanism in Telomerase-Negative Immortal Human Cells Does Not Involve the Telomerase RNA Subunit Academic Article
-
The association of polythelia with segmentation defects of the vertebrae Academic Article
-
The association of previously reported polymorphisms for microvascular complications in a meta-analysis of diabetic retinopathy Academic Article
-
The broader autism phenotype: Defining genetically informative dimensions. Conference Paper
-
The current state of cancer family history collection tools in primary care: a systematic review Academic Article
-
The duty to recontact: attitudes of genetics service providers. Conference Paper
-
The expanding clinical phenotype of Bosch-Boonstra-Schaaf optic atrophy syndrome: 20 new cases and possible genotype–phenotype correlations Academic Article
-
The genotypic and phenotypic spectrum of MTO1 deficiency Academic Article
-
The gut content microbiome of wild-caught rainbow darter is altered during laboratory acclimation Academic Article
-
The human arylsulfatase-C isoenzymes: two distinct genes that escape from X inactivation. Academic Article
-
The human telomerase catalytic subunit hTERT: organization of the gene and characterization of the promoter Academic Article
-
The huntingtin N17 domain is a multifunctional CRM1 and Ran-dependent nuclear and cilial export signal Academic Article
-
The impact of inaccurate ages on a potential association between tuberculosis and NRAMP1. Conference Paper
-
The incidence of Smith-Lemli-Opitz Syndrome (SLOS) in Ontario, Canada. Conference Paper
-
The oro-facial-digital syndrome Academic Article
-
The phenotype of Floating-Harbor syndrome: clinical characterization of 52 individuals with mutations in exon 34 of SRCAP Academic Article
-
The risks of breast and ovarian cancer associated with the Ashkenazi Jewish founder allele BRCA2 6174delT Academic Article
-
The role of clinical response to treatment in determining pathogenicity of genomic variants Academic Article
-
The role of microsatellite instability in patients with gastric cancer: A case-control study in high-frequent area. Conference Paper
-
The therapeutic potential of pharmacological chaperones and proteosomal inhibitors, Celastrol and MG132 in the treatment of sialidosis Academic Article
-
The use of objective structured clinical exams (OSCES) assess genetic counseling and communication skills of pediatric residents. Conference Paper
-
Therapeutic potential of exosomes in Pompe disease: Treatment of tomorrow, today for lysosomal diseases Conference Paper
-
Thiamine responsive megaloblastic anemia presenting as microcytic anaemia: an unusual case with novel mutations. Conference Paper
-
Three novel SALL1 mutations extend the mutational spectrum in Townes-Brocks syndrome Academic Article
-
Tissue-specific expression of human arylsulfatase-C isozymes and steroid sulfatase. Academic Article
-
Transcriptional induction of human lysosomal sialidase promoter as a potential strategy for the treatment of Tay Sachs disease Conference Paper
-
Trisomy 21 and Ebstein Anomaly. Conference Paper
-
Truncating Mutations in UBAP1 Cause Hereditary Spastic Paraplegia Academic Article
-
Truncating Mutations in UBAP1 Cause Hereditary Spastic Paraplegia Academic Article
-
Twin Research and Human Genetics Journal
-
Two different missense mutations at Arg 178 of the protein C (PROC) gene causing recurrent venous thrombosis Academic Article
-
Understanding the population structure of North American patients with cystic fibrosis Academic Article
-
Universal Newborn Screening for Hb H Disease in California Academic Article
-
Use of dexamethasone in acute rhabdomyolysis in Lipin-1 deficiency Conference Paper
-
Use of immunosuppressive agents in gene therapy for prolonged delivery of recombinant products. Conference Paper
-
Using extended pedigrees to identify novel autism spectrum disorder (ASD) candidate genes Academic Article
-
Utility of whole‐exome sequencing for those near the end of the diagnostic odyssey: time to address gaps in care Academic Article
-
Utrophin A is essential in mediating the functional adaptations of mdx mouse muscle following chronic AMPK activation Academic Article
-
VARIATION IN DIAGNOSTIC CARE AND DISEASE CLASSIFICATION STRATEGIES FOR PAH DEFICIENCY: UPDATED FINDINGS FROM THE CANADIAN INHERITED METABOLIC DISEASES RESEARCH NETWORK (CIMDRN) Conference Paper
-
VISUALIZATION OF NUCLEOLAR ORGANIZER REGIONS IN SLOTHS (BRADYPUS-VARIEGATUS AND SCAEOPUS-TORQUATUS) Academic Article
-
Variability in the clinical management of fatty acid oxidation disorders: results of a survey of Canadian metabolic physicians Academic Article
-
Variants in GNAI1 cause a syndrome associated with variable features including developmental delay, seizures, and hypotonia Academic Article
-
Variants of the SFTPA1 and SFTPA2 genes and susceptibility to tuberculosis in Ethiopia Academic Article
-
Voluntary and electrically evoked strength characteristics of obese and nonobese preadolescent boys. Academic Article
-
WRN mutations in Werner syndrome patients: genomic rearrangements, unusual intronic mutations and ethnic-specific alterations Academic Article
-
Weight correction and ethnic differences for first trimester Down syndrome biochemical markers. Conference Paper
-
Weight gain and the risk of ovarian cancer in BRCA1 and BRCA2 mutation carriers Academic Article
-
Whole-exome sequencing broadens the phenotypic spectrum of rare pediatric epilepsy: a retrospective study Academic Article
-
Whole-exome sequencing identified a patient with TMCO1 defect syndrome and expands the phenotic spectrum Academic Article
-
Whole-exome sequencing is a valuable diagnostic tool for inherited peripheral neuropathies: Outcomes from a cohort of 50 families Academic Article
-
Whole-genome array-CGH for detection of submicroscopic chromosomal imbalances in children with mental retardation Academic Article
-
Widening the lens of actionability: A qualitative study of primary care providers’ views and experiences of managing secondary genomic findings Academic Article
-
eP160: Bilateral oophorectomy and the risk of breast cancer in women with a pathogenic variant in BRCA1: A reappraisal Conference Paper