Heterozygote Concept

subject area of

• 2 DIFFERENT MISSENSE MUTATIONS AT ARG 178 OF THE PROTEIN-C (PROC) GENE CAUSING RECURRENT VENOUS THROMBOSIS  Journal Articles
• BRCA1 and BRCA2 Mutation Carriers, Oral Contraceptive Use, and Breast Cancer Before Age 50  Journal Articles
• DHCR7 mutation carrier rates and prevalence of the RSH/Smith‐Lemli‐Opitz syndrome: Where are the patients?  Journal Articles
• GRIN2Bencephalopathy: novel findings on phenotype, variant clustering, functional consequences and treatment aspects  Journal Articles
• A 3-bp deletion in the HBS1L-MYB intergenic region on chromosome 6q23 is associated with HbF expression  Journal Articles
• A Novel Human β-Globin Gene Variant [Hb London-Ontario,HBB: c.332T>G] is Associated with Transfusion-Dependent Anemia in a Patient with a Hemoglobin Electrophoresis Pattern Consistent with β-Thalassemia Trait  Journal Articles
• A Novel Sickling Hemoglobinopathy  Journal Articles
• A Preliminary Study of DBH (Encoding Dopamine Beta-Hydroxylase) Genetic Variation and Neural Correlates of Emotional and Motivational Processing in Individuals With and Without Pathological Gambling  Journal Articles
• A Reanalysis of Protein Polymorphism in Drosophila Melanogaster, D. Simulans, D. Sechellia and D. Mauritiana: Effects of Population Size and Selection  Journal Articles
• A Recurrent De Novo Heterozygous COG4 Substitution Leads to Saul-Wilson Syndrome, Disrupted Vesicular Trafficking, and Altered Proteoglycan Glycosylation  Journal Articles
• A Reliable Screening Test to Identify Adult Carriers of the (--SEA) alpha0-Thalassemia Deletion  Journal Articles
• A UV-specific endonucleolytic activity present in human cell extracts  Journal Articles
• A comprehensive study of genic variation in natural populations of Drosophila melanogaster. VII. Varying rates of genic divergence as revealed by two-dimensional electrophoresis.  Journal Articles
• A deficiency in the repair of UV and γ-ray damaged DNA in fibroblasts from Cockayne's syndrome  Journal Articles
• A new highly penetrant form of obesity due to deletions on chromosome 16p11.2  Journal Articles
• A variant Sp1 (R218Q) transcription factor might enhance HbF expression in β⁰‐thalassaemia homozygotes  Journal Articles
• ATM whole gene deletion in an Italian family with hereditary pancreatic cancer: Challenges to cancer risk prediction associated with an 11q22.3 microdeletion  Journal Articles
• Abnormal Haem Binding and Globin SH Group Blockade in Unstable Haemoglobins  Journal Articles
• Abnormal enzyme phenotype (e1 a e1 f): Normal response to succinylcholine  Journal Articles
• Age at first birth and the risk of breast cancer in BRCA1 and BRCA2 mutation carriers  Journal Articles
• Allele frequency data for VNTR locus D17S79: Identification of an internalHaeIII polymorphism in the black population  Journal Articles
• An International Multicenter Evaluation of Inheritance Patterns, Arrhythmic Risks, and Underlying Mechanisms of CASQ2 -Catecholaminergic Polymorphic Ventricular Tachycardia  Journal Articles
• An atypical pulmonary fibrosis is associated with co-inheritance of mutations in the calcium binding protein genes S100A3 and S100A13  Journal Articles
• Analysis of IFT74as a candidate gene for chromosome 9p-linked ALS-FTD  Journal Articles
• Analysis of inbreeding depression in Agaricus bisporus.  Journal Articles
• Association between ADIPOQ gene polymorphisms and the risk of new-onset diabetes mellitus after liver transplantation  Journal Articles
• Association between the Lynch syndrome gene MSH2 and breast cancer susceptibility in a Canadian familial cancer registry  Journal Articles
• Association of apolipoprotein E variation with cognitive impairment across multiple neurodegenerative diagnoses  Journal Articles
• Association of breast cancer risk in BRCA1 and BRCA2 mutation carriers with genetic variants showing differential allelic expression: identification of a modifier of breast cancer risk at locus 11q22.3  Journal Articles
• Association of cyclooxygenase-2 genetic variant with cardiovascular disease  Journal Articles
• Attitudes of high school students toward carrier screening and prenatal diagnosis of cystic fibrosis  Journal Articles
• Autism and the X chromosome: No linkage to microsatellite loci detected using the affected sibling pair method  Journal Articles
• Beyond the Brain  Journal Articles
• Biochemical and imaging surveillance in germline TP53 mutation carriers with Li-Fraumeni syndrome: a prospective observational study  Journal Articles
• Biotinidase deficiency: Spectrum of molecular, enzymatic and clinical information from newborn screening Ontario, Canada (2007–2014)  Journal Articles
• Breast cancer in a BRCA2 mutation carrier with a history of prostate cancer  Journal Articles
• Breast cancer risk after age 60 among BRCA1 and BRCA2 mutation carriers  Journal Articles
• Breastfeeding and the risk of breast cancer in BRCA1 and BRCA2 mutation carriers  Journal Articles
• Breastfeeding and the risk of epithelial ovarian cancer among women with a BRCA1 or BRCA2 mutation  Journal Articles
• CNTN5-/+or EHMT2-/+human iPSC-derived neurons from individuals with autism develop hyperactive neuronal networks  Journal Articles
• Cancer prevention and screening in a BRCA2-positive male to female transgender patient  Journal Articles
• Cardiovascular risk factors and non-invasive assessment of subclinical atherosclerosis in youth  Journal Articles
• Carrier frequency of the RSH/Smith‐Lemli‐Opitz IVS8‐1G>C mutation in African Americans  Journal Articles
• Characterization of a Rare Single α-Globin Gene Deletion in a Chinese Woman with Hb H Disease  Journal Articles
• Cholesterol Metabolism and Suicidality in Smith-Lemli-Opitz Syndrome Carriers  Journal Articles
• Cholesteryl Ester Transfer Protein Mutations, Protein Activity and HDL-Cholesterol Concentration  Journal Articles
• Clinical course and molecular characterization of a compound heterozygote for sickle hemoglobin and hemoglobin kenya  Journal Articles
• Cognitive Decline in a Colombian Kindred With Autosomal Dominant Alzheimer Disease  Journal Articles
• Coinheritance of α-thalassemia-1 and hemoglobin E/β0-thalassemia: Practical implications for neonatal screening and genetic counseling  Journal Articles
• Complete Genomes Reveal Signatures of Demographic and Genetic Declines in the Woolly Mammoth  Journal Articles
• Compound Heterozygosity for Hb S [β6(A3)Glu→Val] and Hb Kenya (^Aγ81Leu-β86Ala) in a Ugandan Woman  Journal Articles
• Compound Heterozygosity for Hb S and Hb G-Copenhagen  Journal Articles
• Compound Heterozygosity for two Genotypes of α-Thalassemia-2 : Hematological, Biosynthetic and DNA Studies  Journal Articles
• Contraceptive use and the risk of ovarian cancer among women with a BRCA1 or BRCA2 mutation  Journal Articles
• DEMONSTRATION OF TWO POPULATIONS OF CELLS IN THE HUMAN FEMALE HETEROZYGOUS FOR GLUCOSE-6-PHOSPHATE DEHYDROGENASE VARIANTS  Journal Articles
• DHCR7 genotypes of cousins with Smith-Lemli-Opitz syndrome  Journal Articles
• DNA diagnosis of Hb S and Hb Caribbean (α₂β₂⁹¹ Leu→Arg) in a Jamaican family  Journal Articles
• Depression, Migraine With Aura and Migraine Without Aura: Their Familiality and Interrelatedness  Journal Articles
• Detection of the (–^SEA) double α‐globin gene deletion by a simple immunologic assay for embryonic ζ‐globin chains  Journal Articles
• Diagnosis and high incidence of hyperornithinemia‐hyperammonemia‐homocitrullinemia (HHH) syndrome in northern Saskatchewan  Journal Articles
• Diagnosis of arylsulfatase A deficiency  Journal Articles
• Diverse hematological phenotypes of β‐thalassemia carriers  Journal Articles
• Does activated protein C resistance increase the risk of systemic embolism in non rheumatic atrial fibrillation?  Journal Articles
• Does aspirin really reduce the risk of colon cancer?  Journal Articles
• Does genetic introgression improve female reproductive performance? A test on the endangered Florida panther  Journal Articles
• Double heterozygosity for germline mutations in BRCA1 and p53 in a woman with early onset breast cancer  Journal Articles
• Down’s Syndrome Associated with a Familial (21q—;22q+) Translocation  Journal Articles
• Duration of tamoxifen use and the risk of contralateral breast cancer in BRCA1 and BRCA2 mutation carriers  Journal Articles
• Effect of Rosuvastatin on Carotid Intima-Media Thickness in Children With Heterozygous Familial Hypercholesterolemia  Journal Articles
• Effect of the Factor V Leiden Mutation on the Clinical Expression of Severe Hemophilia A  Journal Articles
• Endpoints in myelin-deficient (MD) rats.  Journal Articles
• Environmental and allele‐specific influences on T cell receptor gene rearrangement: skewed α, δ and γ gene rearrangement patterns in chimeric mice  Journal Articles
• Evaluating the effects of historic bottleneck events: an assessment of microsatellite variability in the endangered, North Atlantic right whale  Journal Articles
• Evaluation of Genes Encoding for the Transient Outward Current (Ito) Identifies the KCND2 Gene as a Cause of J-Wave Syndrome Associated With Sudden Cardiac Death  Journal Articles
• Evidence for genetic monogamy and female‐biased dispersal in the biparental mouthbrooding cichlid Eretmodus cyanostictus from Lake Tanganyika  Journal Articles
• Evidence for size and sex‐specific dispersal in a cooperatively breeding cichlid fish  Journal Articles
• Evidence for synergistic effects of PRNP and ATP7Bmutations in severe neuropsychiatric deterioration  Journal Articles
• Evidence of a Founder Effect for the Protein C Gene 3363 Inserted C Mutation in Thrombophilic Pedigrees of French Origin  Journal Articles
• Examining the Clinical Use of Hemochromatosis Genetic Testing  Journal Articles
• Excess of Rare Variants in Non–Genome-Wide Association Study Candidate Genes in Patients With Hypertriglyceridemia  Journal Articles
• Exome sequencing identifies rare LDLR and APOA5 alleles conferring risk for myocardial infarction  Journal Articles
• Factor VII deficiency: clinical manifestation of 717 subjects from Europe and Latin America with mutations in the factor 7 gene  Journal Articles
• Familial partial lipodystrophy presenting as metabolic syndrome  Journal Articles
• Fetal haemoglobin levels and haematological characteristics of compound heterozygotes for haemoglobin S and deletional hereditary persistence of fetal haemoglobin  Journal Articles
• Fetal hemoglobin in sickle cell anemia: a glass half full?  Journal Articles
• Founder effect for the T93MDHCR7mutation in Smith‐Lemli‐Opitz syndrome  Journal Articles
• Frequent heteroplasmy and recombination in the mitochondrial genomes of the basidiomycete mushroom Thelephora ganbajun  Journal Articles
• Gene symbol: ARSA.  Journal Articles
• Genetic Analyses of the Internal Transcribed Spacer Sequences Suggest Introgression and Duplication in the Medicinal Mushroom Agaricus subrufescens  Journal Articles
• Genetic analysis indicates that transcription factors AP-2alpha and Pax6 cooperate in the normal patterning and morphogenesis of the lens.  Journal Articles
• Genetic risk factors associated with lipid‐lowering drug‐induced myopathies  Journal Articles
• Genetic variants of MARCO are associated with susceptibility to pulmonary tuberculosis in a Gambian population  Journal Articles
• Genitopatellar syndrome and neuroblastoma: The multidisciplinary management of a previously unreported association  Journal Articles
• Germline BRCA1 Mutations and a Basal Epithelial Phenotype in Breast Cancer  Journal Articles
• Haemoglobin D Los Angeles, D-β⁺-Thalassaemia, and D-β°- Thalassaemia  Journal Articles
• Haemoglobin Q-Thailand and hereditary spherocytosis in a Chinese family  Journal Articles
• Hb Castilla [β32(B14)Leu → Arg] Caused by a De Novo Mutation  Journal Articles
• Hb E/Hb Lepore_Hollandia in a family from Bangladesh  Journal Articles
• Hb H hydrops foetalis syndrome: a case report and review of literature  Journal Articles
• Hb S/ +-thalassemia due to Hb sickle and a novel deletion of DNase I hypersensitive sites HS3 and HS4 of the   locus control region  Journal Articles
• Hb S/β°‐Thalassemia due to the ˜1.4‐kb deletion is associated with a relatively mild phenotype  Journal Articles
• Hemoglobin E diseases: Hematological, analytical, and biosynthetic studies in homozygotes and double heterozygotes for α‐thalassemia  Journal Articles
• Hemoglobin H (Hb H) disease in Canada: Molecular diagnosis and review of 116 cases  Journal Articles
• Hereditary Persistence of Fetal Hemoglobin Caused by Single Nucleotide Promoter Mutations in Sickle Cell Trait and Hb SC Disease  Journal Articles
• Heterozygous NOTCH1 deletion associated with variable congenital heart defects  Journal Articles
• Heterozygous Mutations Causing Partial Prohormone Convertase 1 Deficiency Contribute to Human Obesity  Journal Articles
• Heterozygous frameshift variants in HNRNPA2B1 cause early-onset oculopharyngeal muscular dystrophy  Journal Articles
• Hybridation naturelle entre deux sous-espèces de souris domestique,Mus musculus domesticusetMus musculus castaneus, près du lac Casitas (Californie)  Journal Articles
• IDENTIFICATION OF TWO NEW β-THALASSEMIA SPLICE MUTATIONS: IVS-I-1 (G → C) AND IVS-I (−2) (A → C)  Journal Articles
• Identifican of A New High Oxygen Affinity Hemoglobin Variant: Hb Aurora [β139(H17)Asn→Tyr]  Journal Articles
• Identification of a New β-Thalassemia Nonsense Mutation [Codon 59 (AAG→TAG)]  Journal Articles
• Identification of a new hemoglobin variant: Hb St. Joseph's [β77(EF1)His→Leu]  Journal Articles
• Identification of an extensive ζ‐α globin gene deletion in a Chinese individual  Journal Articles
• Identification of restriction-fragment-length polymorphisms in genomic DNA of the lesser snow goose (Anser caerulescens caerulescens).  Journal Articles
• Impact of ACE2 gene polymorphism on antihypertensive efficacy of ACE inhibitors  Journal Articles
• Incidence of endometrial cancer in BRCA mutation carriers.  Journal Articles
• Integrins Regulate Responsiveness to Slit Repellent Signals  Journal Articles
• International variation in rates of uptake of preventive options in BRCA1 and BRCA2 mutation carriers  Journal Articles
• Late‐onset metachromatic leukodystrophy clinically presenting as isolated peripheral neuropathy: Compound heterozygosity for the IVS2+1G→a mutation and a newly identified missense mutation (Thr408Ile) in a Spanish family  Journal Articles
• Leigh syndrome associated with mitochondrial complex I deficiency due to novel mutations In NDUFV1 and NDUFS2  Journal Articles
• Low genic variation in male-reproductive-tract proteins of Drosophila melanogaster and D. simulans.  Journal Articles
• Males With MECP2 C-terminal-Related Atypical Rett Syndromes and Their Carrier Mothers  Journal Articles
• Management of Patients with Hereditary Hypercoagulable Disorders  Journal Articles
• Maturity Onset Diabetes in the Young (MODY) type 3.  Journal Articles
• Mesenteric-portal Vein Thrombosis in a Patient with Hyperhomocysteinemia and Heterozygous for 20210A Prothrombin Allele  Journal Articles
• Metachromatic leukodystrophy: Multiple nonfunctional and pseudodeficiency alleles in a pedigree: Problems with diagnosis and counseling  Journal Articles
• Mild Microcytic Anemia in an Infant with a Compound Heterozygosity for Hb C (HBB: c.19G > A) and Hb Osu Christiansborg (HBB: c.157G > A)  Journal Articles
• Missense variants in the N-terminal domain of the A isoform of FHF2/FGF13 cause an X-linked developmental and epileptic encephalopathy  Journal Articles
• Modulation of Gut Microbiota Composition by Serotonin Signaling Influences Intestinal Immune Response and Susceptibility to Colitis  Journal Articles
• Molecular genetic analysis of severe protein C deficiency.  Journal Articles
• Mutation Analysis in F9 Gene of 17 Families with Haemophilia B from Iran  Conferences
• Mutation screening of a neutral amino acid transporter, ASCT1, and its potential role in schizophrenia  Journal Articles
• Mutations in SRCAP, Encoding SNF2-Related CREBBP Activator Protein, Cause Floating-Harbor Syndrome  Journal Articles
• NOVEL β-THALASSEMIA MUTATION IN A β-THALASSEMIA INTERMEDIA PATIENT [POLY A (AATAAA →GATAAA)]  Journal Articles
• Newborn Screening for β-Thalassemia Identifies a Complex Genotype Involving a Novel β-Globin Gene Mutation ( HBB :c.336dup)  Journal Articles
• Next generation sequencing reveals novel compound heterozygous deletions in NDUFAF2 in a child with mitochondrial complex I deficiency, nuclear type 10  Journal Articles
• Novel SCO2 mutation (G1521A) presenting as a spinal muscular atrophy type I phenotype  Journal Articles
• Oophorectomy and risk of contralateral breast cancer among BRCA1 and BRCA2 mutation carriers  Journal Articles
• Pathogenic SPTBN1 variants cause an autosomal dominant neurodevelopmental syndrome  Journal Articles
• Patients with thalassemia in the United States  Journal Articles
• Patterns of allele distribution in a hybrid population of the Cryptococcus neoformans species complex  Journal Articles
• Performance of heterozygous brain-derived neurotrophic factor knockout mice on behavioral analogues of anxiety, nociception, and depression.  Journal Articles
• Peripheral blood epi-signature of Claes-Jensen syndrome enables sensitive and specific identification of patients and healthy carriers with pathogenic mutations in KDM5C  Journal Articles
• Phenotypic Analysis of Arrhythmogenic Cardiomyopathy in the Hutterite Population: Role of Electrocardiogram in Identifying High‐Risk Desmocollin‐2 Carriers  Journal Articles
• Phenotypic variability associated with progranulin haploinsufficiency in patients with the common 1477C-->T (Arg493X) mutation: an international initiative.  Journal Articles
• Polygenic Risk Score for Low-Density Lipoprotein Cholesterol Is Associated With Risk of Ischemic Heart Disease and Enriches for Individuals With Familial Hypercholesterolemia  Journal Articles
• Prevalence and Genotypes of α- and β-Thalassemia Carriers in Hong Kong — Implications for Population Screening  Journal Articles
• RNA-Seq effectively monitors gene expression in Eutrema salsugineum plants growing in an extreme natural habitat and in controlled growth cabinet conditions  Journal Articles
• Rapid progression of prostate cancer in men with a BRCA2 mutation  Journal Articles
• Re: Magnetic Resonance Imaging and Mammography in Women With a Hereditary Risk of Breast Cancer  Journal Articles
• Recombination between the factor VIII gene and the DXS52 locus gives the most probable genetic order as centromere‐FRA(X)‐DXS15‐DXS52‐F8C‐telomere  Journal Articles
• Reduced capacity to repair irradiated adenovirus in fibroblasts from xeroderma pigmentosum heterozygotes.  Journal Articles
• Report of the first patient with a homozygous OTUD7A variant responsible for epileptic encephalopathy and related proteasome dysfunction  Journal Articles
• Risk of Recurrent Venous Thromboembolism in Patients With Common Thrombophilia  Journal Articles
• SLOS carrier frequency in Poland as determined by screening for Trp151X and Val326Leu DHCR7 mutations  Journal Articles
• Serum alpha - fetoprotein levels in patients with cystic fibrosis and their parents and siblings.  Journal Articles
• Should we screen for globin gene mutations in blood samples with mean corpuscular volume (MCV) greater than 80 fL in areas with a high prevalence of thalassaemia?  Journal Articles
• Sickle Cell Traits in Canada  Journal Articles
• Sickle cell disease caused by Hb S/Québec‐CHORI: Treatment with hydroxyurea and response  Journal Articles
• Sickle cell disease caused by heterozygosity for Hb S and novel LCR deletion: Report of two patients  Journal Articles
• Sickle cell disease due to compound heterozygosity for Hb S and a novel 7.7‐kb β‐globin gene deletion  Journal Articles
• Single CT Scan Prolongs Survival by Extending Cancer Latency inTrp53Heterozygous Mice  Journal Articles
• Smith-Lemli-Opitz syndrome: phenotypic extreme with minimal clinical findings  Journal Articles
• Smith–Lemli–Opitz syndrome with a classical phenotype, oesophageal achalasia and borderline plasma sterol concentrations  Journal Articles
• Spectrum of β-Thalassemia Mutations in Egypt  Journal Articles
• Splice Acceptor Mutation [ HBB :c.93-2A > T] in a Patient with Hb S/β ⁰ -Thalassemia  Journal Articles
• Steroid receptor coactivator-1 modulates the function of Pomc neurons and energy homeostasis  Journal Articles
• THE Hb S/β⁺-Thalassemia Phenotype Demonstrates that the IVS-I (−2) (A>C) Mutation is a Mild β-Thalassemia Allele  Journal Articles
• Targeted copy number variant identification across the neurodegenerative disease spectrum  Journal Articles
• Ten-Year Multi-Institutional Results of Breast-Conserving Surgery and Radiotherapy in BRCA1/2-Associated Stage I/II Breast Cancer  Journal Articles
• The Effects of Weak Genetic Perturbations on the Transcriptome of the Wing Imaginal Disc and Its Association With Wing Shape in Drosophila melanogaster  Journal Articles
• The Interaction of Anti 3. 7 Type Quadruplicated α-Globin Genes and Heterozygous β-Thalassemia  Journal Articles
• The Pea3 Ets transcription factor regulates differentiation of multipotent progenitor cells during mammary gland development  Journal Articles
• The Phenotypic Spectrum of a Mutation Hotspot Responsible for the Short QT Syndrome  Journal Articles
• The association between smoking and cancer incidence in BRCA1 and BRCA2 mutation carriers  Journal Articles
• The fragile‐X syndrome, IV. Progress towards the identification of linked restriction fragment length variants (RFLVs)  Journal Articles
• The relationship between CYP2C19 polymorphisms and ischaemic and bleeding outcomes in stable outpatients: the CHARISMA genetics study  Journal Articles
• Thrombosis in inherited factor VII deficiency  Journal Articles
• Thymic stromal lymphopoietin (TSLP) secretion from human nasal epithelium is a function of TSLP genotype  Journal Articles
• Treatment of a Lysosomal Storage Disease, Mucopolysaccharidosis VII, with Microencapsulated Recombinant Cells  Journal Articles
• Trinucleotide repeat polymorphism within the human antithrombin gene (AT3): allele frequency data for three population groups  Journal Articles
• Two different missense mutations at Arg 178 of the protein C (PROC) gene causing recurrent venous thrombosis  Journal Articles
• Variation and heritability of Hb F and F‐cells among β‐thalassemia heterozygotes in Hong Kong  Journal Articles
• α₁-Antitrypsin Deficiency Alleles in Cystic Fibrosis Lung Disease  Journal Articles
• β⁺-Thalassemia Trait Due to a Novel Mutation in the β-Globin Gene Promoter: −26 (A>C) [HBB c.−76A>C]  Journal Articles
• β‐thalassemia intermedia caused by compound heterozygosity for Hb Malay (β codon 19 AAC→AGC; Asn→Ser) and codons 41/42 (‐CTTT) β ⁰ ‐thalassemia mutation  Journal Articles
• β‐thalassemia intermedia due to compound heterozygosity for two β‐globin gene promoter mutations, including a novel TATA box deletion  Journal Articles
• δβ-Thalassemia in an African-American: Identification of the deletion endpoints and PCR-Based diagnosis  Journal Articles