Genetics & Heredity

subject area of

16p11.2 600 kb Duplications confer risk for typical and atypical Rolandic epilepsy 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
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 Chromosome 8 Gene-Cluster Polymorphism with Low Human Beta-Defensin 2 Gene Copy Number Predisposes to Crohn Disease of the Colon Academic Article
A DNA marker closely linked to the factor IX (haemophilia B) gene Academic Article
A Genetic Study of the Ghrelin and Growth Hormone Secretagogue Receptor (GHSR) Genes and Stature Academic Article
A Genome-wide Association Study Identifies Risk Alleles in Plasminogen and P4HA2 Associated with Giant Cell Arteritis 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 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 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-wide scan for common alleles affecting risk for autism Academic Article
A girl with velocardiofacial phenotype and complex chromosome rearrangements involvinq 8p and 10p Conference Paper
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 point mutation in the neu1 promoter recruits an ectopic repressor, Nkx3.2 and results in a mouse model of sialidase deficiency Academic Article
A principal component regression based genome wide analysis approach reveals the presence of a novel QTL on BTA7 for MAP resistance in holstein cattle 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 significant response to neoadjuvant chemotherapy in BRCA1/2 related breast cancer Academic Article
A streamlined method for analysing genome-wide DNA methylation patterns from low amounts of FFPE DNA 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
ADULT ONSET POLYCYSTIC KIDNEY-DISEASE (APKD) - CLINICAL ONSET, PROGNOSIS AND ULTRASONOGRAPHIC DETECTION Conference Paper
ALPHA-SATELLITE ON CHROMOSOME-7 - MOLECULAR-ORGANIZATION, DNA POLYMORPHISMS, AND CENTROMERIC LOCALIZATION Conference Paper
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
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
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
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 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
Additional evidence for fragile X activity in heterozygous carriers 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
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 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 initial genetic linkage map of the rhesus macaque (Macaca mulatta) genome using human microsatellite loci 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
Analysis of Sus scrofa liver proteome and identification of proteins differentially expressed between genders, and conventional and genetically enhanced lines Academic Article
Analysis of the contribution of FTO, NPC1, ENPP1, NEGR1, GNPDA2 and MC4Rgenes to obesity in Mexican children Academic Article
Annales de Genetique Journal
Annals of Human Genetics Journal
Apoptotic Cell Death in Mouse Models of GM2 Gangliosidosis and Observations on Human Tay-Sachs and Sandhoff Diseases Academic Article
Assessing the quality of published genetic association studies in meta-analyses: the quality of genetic studies (Q-Genie) tool 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
Association of variants in the Sirtuin 1 (SIRT1) gene with severe obesity Conference Paper
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
BENIGN FAMILIAL NEONATAL CONVULSIONS IN A NEWFOUNDLAND KINDRED LINKED TO CHROMOSOME 20 Conference Paper
BMC Genetics Journal
BMC Medical Genetics Journal
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 Journal
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
Biallelic variants in WARS2 encoding mitochondrial tryptophanyl-tRNA synthase in six individuals with mitochondrial encephalopathy Academic Article
Biochemical and Molecular Medicine Journal
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
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 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
Bovine IFNGR2, IL12RB1, IL12RB2, and IL23R polymorphisms and MAP infection status 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
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
CNVs in Obesity: Uncovering a New Level of Genomic Variation 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
CORRIGENDUM: The expanding clinical phenotype of Bosch-Boonstra-Schaaf optic atrophy syndrome: 20 new cases and possible genotype–phenotype correlations Academic Article
Cancer and Pregnancy Outcomes: An Overview of Existing Knowledge and Preliminary Results of a Multicenter Study Conference Paper
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
Cellular differentiation hierarchies in normal and culture-adapted human embryonic stem cells 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
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 ofMAGEL2-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 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
Community Genetics Public Health Genomics Journal
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 chromosome painting of pronghorn (Antilocapra americana) and saola (Pseudoryx nghetinhensis) karyotypes with human and dromedary camel probes Academic Article
Comparison of Urinary Acylglycines and Acylcarnitines as Diagnostic Markers of Medium-chain Acyl-CoA Dehydrogenase Deficiency Academic Article
Complete mitochondrial genome sequence of the heart failure model of cardiomyopathic Syrian hamster (Mesocricetus auratus) Academic Article
Computational Prediction of Position Effects of Apparently Balanced Human Chromosomal Rearrangements Academic Article
Concordance of two multiple analytical approaches demonstrate that interaction between BMI and ADIPOQ haplotypes is a determinant of LDL cholesterol in a general French population 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
Cornelia de Lange syndrome - Prenatal manifestations: Report of four cases. Conference Paper
Correction Academic Article
Correspondence Academic Article
Covariance of Isometric and Dynamic Arm Contractions: Multivariate Genetic Analysis Academic Article
Cross-Reactive DNA Microarray Probes Lead to False Discovery of Autosomal Sex-Associated DNA Methylation Academic Article
Cystic fibrosis patients bearing both the common missense mutation Gly----Asp at codon 551 and the delta F508 mutation are clinically indistinguishable from delta F508 homozygotes, except for decreased risk of meconium ileus. Academic Article
Cytogenetic and Genome Research Cytogenetics and Cell Genetics Journal
Cytogenetic comparison of saola (Pseudoryx nghetinhensis) and cattle (Bos taurus) 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
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
DNA Sequence - Journal of DNA Sequencing and Mapping Mitochondrial DNA Journal
DOES TANDEMLY REPEATED DNA HAVE A BEGINNING AND AN END - MOLECULAR EVOLUTION OF ALPHA SATELLITE DNA Conference Paper
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
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 rare inherited copy-number variations in the hemiplegic form of cerebral palsy Academic Article
De novo mutations in CSNK2A1 are associated with neurodevelopmental abnormalities and dysmorphic features 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
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
Design of a randomized controlled trial of disclosing genomic risk of coronary heart disease: the Myocardial Infarction Genes (MI-GENES) study Academic Article
Detection and interpretation of two different cell lines in triploid abortions Academic Article
Detection of Clinically Relevant Genetic Variants in Autism Spectrum Disorder by Whole-Genome Sequencing Academic Article
Detection of Severe Nondeletional α-Thalassemia Mutations Using a Single-Tube Multiplex ARMS Assay Academic Article
Detection of homogeneous staining region (hsr) in acute lymphoblastic leukemia (ALL). Conference Paper
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
Diaspora, migration, and the sciences: a new integrated perspective Academic Article
Differential Y‐chromosome Anatolian Influences on the Greek and Cretan Neolithic 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
Double balanced translocations t(5;22) and t(6;8) in a woman with recurrent miscarriages. Conference Paper
Down’s Syndrome Associated with a Familial (21q—;22q+) Translocation 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
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
Early onset of renal cancer in a family with Birt-Hogg-Dubé syndrome Academic Article
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
Electrophoretic variants of human 6-phosphogluconate dehydrogenase: population and family studies and description of a new variant Academic Article
Endocannabinoid receptor 1 gene variations increase risk for obesity and modulate body mass index in European populations Academic Article
Epidemiology of bronchopulmonary dysplasia Academic Article
Epigenetics, heritability and longitudinal analysis 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
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 ductus venosus blood flow as a screening marker for Down syndrome in the first-trimester Conference Paper
Evidence for synergistic effects of PRNP and ATP7Bmutations in severe neuropsychiatric deterioration 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
Exome-wide analysis of mutational burden in patients with typical and atypical Rolandic epilepsy 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
Exploring the diploid wheat ancestral A genome through sequence comparison at the high-molecular-weight glutenin locus region Academic Article
Expression of the dystrophin isoform Dp71 in differentiating human fetal myogenic cultures Academic Article
FISH of kidney touch preparation: a useful approach to chromosome studies of products of conception. Conference Paper
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
From big data analysis to personalized medicine for all: challenges and opportunities 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
GRIN2B encephalopathy: novel findings on phenotype, variant clustering, functional consequences and treatment aspects 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-analyses for central adiposity traits in up to 57 412 individuals of European descent confirm known loci and reveal several novel associations 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 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 implications and health consequences following the Chernobyl nuclear accident 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 Revista Brasileira de Genetica Journal
Genetics in Medicine Journal
Genome-wide analysis of disease progression in age-related macular degeneration Academic Article
Genome-wide association scans identified CTNNBL1 as a novel gene for obesity Academic Article
Genome-wide linkage analysis of systolic blood pressure slope using the Genetic Analysis Workshop 13 data sets 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
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-Related Quality-of-Life Assessment of Prenatal Diagnosis: Chorionic Villi Sampling and Amniocentesis Academic Article
Hereditas Journal
Holoprosencephaly, sacral anomalies, and situs ambiguus in an infant with partial monosomy 7q/trisomy 2p and SHH and HLXB9 haploinsufficiency Academic Article
Human Biology Journal
Human Genetics Journal
Human Genomics Journal
Human Heredity Journal
Human Molecular Genetics Journal
Human Mutation Journal
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
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
Identification and functional analysis ofCITED2 mutations in patients with congenital heart defects 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 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
Immunochip Analysis Identifies Multiple Susceptibility Loci for Systemic Sclerosis Academic Article
Impact of HIPAA’s minimum necessary standard on genomic data sharing Academic Article
Impact of Maternal Overweight during Pregnancy on the Newborn Gut Microbiome Conference Paper
Implication of the Pro12Ala polymorphism of the PPAR-gamma 2gene in type 2 diabetes and obesity in the French population Academic Article
Improving diagnostic precision, care and syndrome definitions using comprehensive next-generation sequencing for the inherited bone marrow failure syndromes Academic Article
Imputation of missing genotypes: an empirical evaluation of IMPUTE Academic Article
Incidence of Smith-Lemli-Opitz syndrome in Canada: results of a 36 month surveillance program. Conference Paper
Incorporation of 7-deaza dGTP during the amplification step in the polymerase chain reaction procedure improves subsequent DNA sequencing Academic Article
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
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 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
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 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 and association analysis in pedigrees from different populations 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
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
Loss-of-Function Mutation in the Dioxygenase-Encoding FTO Gene Causes Severe Growth Retardation and Multiple Malformations Academic Article
Low expression of long-chain acyl-CoA dehydrogenase in human skeletal muscle Academic Article
MAPPING OF A REPETITIVE 1.8 KB KPNL SEQUENCE TO THE SHORT ARM OF CHROMOSOME-15 Conference Paper
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
Mammalian Genome Mouse 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 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
Mental retardation in heterozygotes for the fragile-X mutation: evidence in favor of an X inactivation-dependent effect. 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 Gene-Level Associations for Rare Variants Based on Single-Variant Statistics 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
Miglustat as a therapeutic agent: prospects and caveats 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 effects in autism at the DHB and MAO-A loci. Conference Paper
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 Genetics and Genomics Molecular and General Genetics Journal
Molecular Genetics and Metabolism Journal
Molecular Polymorphism and Divergence of Duplicated Genes in Tetraploid African Clawed Frogs (Xenopus) 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 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
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 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
Natural disease course and genotype-phenotype correlations in Complex I deficiency caused by nuclear gene defects: what we learned from 130 cases 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
Neuronal pentraxin 1 depletion delays neurodegeneration and extends life in Sandhoff disease mice Academic Article
No contribution of angiotensin-converting enzyme (ACE) gene variants to severe obesity: a model for comprehensive case/control and quantitative cladistic analysis of ACE in human diseases 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
Non-synonymous polymorphisms in melanocortin-4 receptor protect against obesity: the two facets of a Janus obesity gene Academic Article
Novel GNE Mutations in Autosomal Recessive Hereditary Inclusion Body Myopathy Patients 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 association approach for variable number tandem repeats (VNTRs) identifies DOCK5 as a susceptibility gene for severe obesity 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
OCULAR MANIFESTATIONS OF JACOBSEN SYNDROME (11Q-) Conference Paper
OTUD7A Regulates Neurodevelopmental Phenotypes in the 15q13.3 Microdeletion Syndrome Academic Article
Odds-ratio regression models for testing joint transmission of candidate genes for tuberculosis. Conference Paper
Organization and genomic distribution of ?82H? alpha satellite DNA Academic Article
Orphanet Journal of Rare Diseases Journal
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
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
Parental origin of triploidy and D and G trisomy in spontaneous abortions. 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 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
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
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
Polyendocrinopathy, skeletal dysplasia, organomegaly, and distinctive facies associated with a novel, widely-expressed Gs alpha mutation. Conference Paper
Polygenic determinants of severe hypertriglyceridemia Academic Article
Polymorphisms in the gene encoding bovine interleukin-10 receptor alpha are associated with Mycobacterium avium ssp. paratuberculosis infection status Academic Article
Polyploidy in Amphibia Academic Article
Predictive power of individual genetic and environmental factor scores Academic Article
Preferences for prenatal tests for Down syndrome: an international comparison of the views of pregnant women and health professionals Academic Article
Preferential reciprocal transfer of paternal/maternal DLK1 alleles to obese children: first evidence of polar overdominance in humans 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 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
Probability genotype imputation method and integrated weighted lasso for QTL identification 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
Psychosocial issues of burden for genetic conditions in the Chinese population. Conference Paper
Quality and content of abstracts in papers reporting about drug exposures during pregnancy Academic Article
R125W coding variant in TBC1D1 confers risk for familial obesity and contributes to linkage on chromosome 4p14 in the French population Academic Article
RAPID IMMUNOCYTOLOGICAL SCREENING FOR ADULT CARRIERS OF THE SOUTHEAST-ASIAN ALPHA-THALASSEMIA-1 DELETION (SEA) 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
Rates of risk-reducing surgery in IsraeliBRCA1andBRCA2mutation carriers Academic Article
Reciprocal deletion and duplication at 2q23.1 indicates a role for MBD5 in autism spectrum disorder Academic Article
Recombinant hepatitis B surface antigen particles and anionic phospholipid bind to identical sites on apolipoprotein H (beta 2-glycoprotein I) as revealed by site-directed mutagenesis. Conference Paper
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
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
RpoS regulation of gene expression during exponential growth of Escherichia coli K12 Academic Article
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 bovine IL-10 receptor are associated with somatic cell score in Canadian dairy bulls 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
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
Secretory granule neuroendocrine protein 1 (SGNE1) genetic variation and glucose intolerance in severe childhood and adult obesity Academic Article
Serum cholesterol and suicidality in Smith-Lemli-Opitz syndrome heterozygotes Conference Paper
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 prenatal growth retardation, dysmorphic features, pigmentary retinopathy, and generalized absence of subcutaneous tissues: a new entity? Academic Article
Sex- and age-interacting eQTLs in human complex diseases 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
Six novel mutations in the myophosphorylase gene in patients with McArdle disease and a family with pseudo-dominant inheritance pattern (vol 104, pg 587, 2011) Academic Article
Sjogren-Larsson syndrome: Motor performance and everyday functioning Conference Paper
Smith-Lemli-Opitz syndrome and other disorders of cholesterol biosynthesis: An introduction Academic Article
Smith-Lemli-Opitz syndrome: Phenotype, natural history, and epidemiology Academic Article
Smith-Lemli-Opitz syndrome: carrier frequency and spectrum of DHCR7 mutations in Canada Academic Article
Smith–Lemli–Opitz syndrome with a classical phenotype, oesophageal achalasia and borderline plasma sterol concentrations 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 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
Strong mutagenic activity of streptozotocin —an antibiotic with an alkylnitroso group 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
TCF7L2 rs7903146 variant does not associate with smallness for gestational age in the French population 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
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
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
Tests for the replication of an association between Egfr and natural variation in Drosophila melanogaster wing morphology. Academic Article
The Association Between Early Membrane Rupture, Latency, Clinical Chorioamnionitis, Neonatal Infection, and Adverse Perinatal Outcomes in Twin Pregnancies Complicated by Preterm Prelabour Rupture of Membranes Academic Article
The Duty to Recontact: Attitudes of Genetics Service Providers Academic Article
The Gene Encoding p120cas, a Novel Catenin, Localizes on Human Chromosome 11q11 (CTNND) and Mouse Chromosome 2 (Catns) 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 T-381C SNP in BNP gene may be modestly associated with type 2 diabetes: an updated meta-analysis in 49 279 subjects 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 genetic susceptibility to type 2 diabetes may be modulated by obesity status: implications for association studies Academic Article
The genotypic and phenotypic spectrum of MTO1 deficiency 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 phenotype of Floating-Harbor syndrome: clinical characterization of 52 individuals with mutations in exon 34 of SRCAP Academic Article
The relation between DNA methylation patterns and serum cytokine levels in community-dwelling adults: a preliminary study 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
Three novel thiopurine S-methyltransferase allelic variants (TPMT*20, *21, *22) – association with decreased enzyme function Academic Article
Thrice better than once: quality control guidelines to validate new mitogenomes Academic Article
Thymectomy for non-thymomatous myasthenia gravis: a propensity score matched study Academic Article
Transcriptional induction of human lysosomal sialidase promoter as a potential strategy for the treatment of Tay Sachs disease Conference Paper
Trisomy 21 Down syndrome Academic Article
Trisomy 21 Down syndrome Academic Article
Trisomy 21 and Ebstein Anomaly. Conference Paper
Trisomy 21: association between reduced recombination and nondisjunction. Academic Article
Twin Research Twin Research and Human Genetics Journal
Twinning rate in spontaneous abortions Academic Article
Two different missense mutations at Arg 178 of the protein C (PROC) gene causing recurrent venous thrombosis. Academic Article
Type 2 Diabetes Whole-Genome Association Study in Four Populations: The DiaGen Consortium 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 immunosuppressive agents in gene therapy for prolonged delivery of recombinant products. Conference Paper
Use of latent class models to accommodate inter-laboratory variation in assessing genetic polymorphisms associated with disease risk Academic Article
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
VISUALIZATION OF NUCLEOLAR ORGANIZER REGIONS IN SLOTHS (BRADYPUS-VARIEGATUS AND SCAEOPUS-TORQUATUS) 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
Whole exome sequencing reveals concomitant mutations of multiple FA genes in individual Fanconi anemia patients 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

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