Heterozygote Concept

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• A 3-bp deletion in the HBS1L-MYB intergenic region on chromosome 6q23 is associated with HbF expression  Academic Article
• 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  Academic Article
• A Novel Sickling Hemoglobinopathy  Academic Article
• A Preliminary Study ofDBH(Encoding Dopamine Beta-Hydroxylase) Genetic Variation and Neural Correlates of Emotional and Motivational Processing in Individuals With and Without Pathological Gambling  Academic Article
• A Reanalysis of Protein Polymorphism in Drosophila Melanogaster, D. Simulans, D. Sechellia and D. Mauritiana: Effects of Population Size and Selection  Academic Article
• A Reliable Screening Test to Identify Adult Carriers of the (--SEA) alpha0-Thalassemia Deletion  Academic Article
• A UV-specific endonucleolytic activity present in human cell extracts  Academic Article
• A comprehensive study of genic variation in natural populations of Drosophila melanogaster. VII. Varying rates of genic divergence as revealed by two-dimensional electrophoresis.  Academic Article
• A deficiency in the repair of UV and γ-ray damaged DNA in fibroblasts from Cockayne's syndrome  Academic Article
• A new highly penetrant form of obesity due to deletions on chromosome 16p11.2  Academic Article
• A novel compound heterozygous mutation of the luteinizing hormone receptor –implications for fertility  Academic Article
• A novel luteinizing hormone/chorionic gonadotropin receptor mutation associated with amenorrhea, low oocyte yield, and recurrent pregnancy loss  Academic Article
• A variant Sp1 (R218Q) transcription factor might enhance HbF expression in β0-thalassaemia homozygotes  Academic Article
• ATM whole gene deletion in an Italian family with hereditary pancreatic cancer: Challenges to cancer risk prediction associated with an 11q22.3 microdeletion  Academic Article
• Abnormal Haem Binding and Globin SH Group Blockade in Unstable Haemoglobins  Academic Article
• Abnormal enzyme phenotype (e1 a e1 f): Normal response to succinylcholine  Academic Article
• Allele frequency data for VNTR locus D17S79: Identification of an internalHaeIII polymorphism in the black population  Academic Article
• An atypical pulmonary fibrosis is associated with co-inheritance of mutations in the calcium binding protein genes S100A3 and S100A13  Academic Article
• Analysis of IFT74as a candidate gene for chromosome 9p-linked ALS-FTD  Academic Article
• Analysis of inbreeding depression in Agaricus bisporus.  Academic Article
• Association between ADIPOQ gene polymorphisms and the risk of new-onset diabetes mellitus after liver transplantation  Academic Article
• Association between the Lynch syndrome gene MSH2 and breast cancer susceptibility in a Canadian familial cancer registry  Academic Article
• 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  Academic Article
• Association of cyclooxygenase-2 genetic variant with cardiovascular disease  Academic Article
• Attitudes of high school students toward carrier screening and prenatal diagnosis of cystic fibrosis  Academic Article
• BRCA1 and BRCA2 Mutation Carriers, Oral Contraceptive Use, and Breast Cancer Before Age 50  Academic Article
• Beyond the Brain  Academic Article
• Biochemical and imaging surveillance in germline TP53 mutation carriers with Li-Fraumeni syndrome: a prospective observational study  Academic Article
• Biotinidase deficiency: Spectrum of molecular, enzymatic and clinical information from newborn screening Ontario, Canada (2007–2014)  Academic Article
• Breast cancer in a BRCA2 mutation carrier with a history of prostate cancer  Academic Article
• Breastfeeding and the risk of breast cancer in BRCA1 and BRCA2 mutation carriers  Academic Article
• Breastfeeding and the risk of epithelial ovarian cancer among women with a BRCA1 or BRCA2 mutation  Academic Article
• CNTN5-/+or EHMT2-/+human iPSC-derived neurons from individuals with autism develop hyperactive neuronal networks  Academic Article
• Cancer prevention and screening in a BRCA2-positive male to female transgender patient  Academic Article
• Cardiovascular risk factors and non-invasive assessment of subclinical atherosclerosis in youth  Academic Article
• Carrier frequency of the RSH/Smith-Lemli-Opitz IVS8-1G>C mutation in African Americans  Academic Article
• Characterization of a Rare Single α-Globin Gene Deletion in a Chinese Woman with Hb H Disease  Academic Article
• Cholesterol Metabolism and Suicidality in Smith-Lemli-Opitz Syndrome Carriers  Academic Article
• Cholesteryl Ester Transfer Protein Mutations, Protein Activity and HDL-Cholesterol Concentration  Academic Article
• Clinical course and molecular characterization of a compound heterozygote for sickle hemoglobin and hemoglobin kenya  Academic Article
• Cognitive Decline in a Colombian Kindred With Autosomal Dominant Alzheimer Disease  Academic Article
• Coinheritance of α-thalassemia-1 and hemoglobin E/β0-thalassemia: Practical implications for neonatal screening and genetic counseling  Academic Article
• Complete Genomes Reveal Signatures of Demographic and Genetic Declines in the Woolly Mammoth  Academic Article
• Compound Heterozygosity for Hb S [β6(A3)Glu→Val] and Hb Kenya (Aγ81Leu-β86Ala) in a Ugandan Woman  Academic Article
• Compound Heterozygosity for Hb S and Hb G-Copenhagen  Academic Article
• Compound Heterozygosity for two Genotypes of α-Thalassemia-2 : Hematological, Biosynthetic and DNA Studies  Academic Article
• Contribution of rare coding mutations in CD36 to type 2 diabetes and cardio-metabolic complications  Academic Article
• Cystathioninuria and Renal Iminoglycinuria in a Pedigree  Academic Article
• Cystinuria: Increased Prevalence in Patients with Mental Disease  Academic Article
• DEMONSTRATION OF TWO POPULATIONS OF CELLS IN THE HUMAN FEMALE HETEROZYGOUS FOR GLUCOSE-6-PHOSPHATE DEHYDROGENASE VARIANTS  Academic Article
• DHCR7 genotypes of cousins with Smith-Lemli-Opitz syndrome  Academic Article
• DHCR7 mutation carrier rates and prevalence of the RSH/Smith-Lemli-Opitz syndrome: Where are the patients?  Academic Article
• DNA diagnosis of Hb S and Hb Caribbean (α2β291 Leu→Arg) in a Jamaican family  Academic Article
• Depression, Migraine With Aura and Migraine Without Aura: Their Familiality and Interrelatedness  Academic Article
• Detection of the (–SEA) double α-globin gene deletion by a simple immunologic assay for embryonic ζ-globin chains  Academic Article
• Diagnosis and high incidence of hyperornithinemia-hyperammonemia-homocitrullinemia (HHH) syndrome in northern Saskatchewan  Academic Article
• Diagnosis of arylsulfatase A deficiency  Academic Article
• Diverse hematological phenotypes of β-thalassemia carriers  Academic Article
• Does activated protein C resistance increase the risk of systemic embolism in non rheumatic atrial fibrillation?  Academic Article
• Does aspirin really reduce the risk of colon cancer?  Academic Article
• Does genetic introgression improve female reproductive performance? A test on the endangered Florida panther  Academic Article
• Double heterozygosity for germline mutations in BRCA1 and p53 in a woman with early onset breast cancer  Academic Article
• Down’s Syndrome Associated with a Familial (21q—;22q+) Translocation  Academic Article
• Duration of tamoxifen use and the risk of contralateral breast cancer in BRCA1 and BRCA2 mutation carriers  Academic Article
• Effect of Rosuvastatin on Carotid Intima-Media Thickness in Children With Heterozygous Familial Hypercholesterolemia  Academic Article
• Effect of the Factor V Leiden Mutation on the Clinical Expression of Severe Hemophilia A  Academic Article
• Endpoints in myelin-deficient (MD) rats.  Academic Article
• Environmental and allele-specific influences on T cell receptor gene rearrangement: skewed α, δ and γ gene rearrangement patterns in chimeric mice  Academic Article
• Evaluating the effects of historic bottleneck events: an assessment of microsatellite variability in the endangered, North Atlantic right whale  Academic Article
• 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  Academic Article
• Evidence for genetic monogamy and female‐biased dispersal in the biparental mouthbrooding cichlid Eretmodus cyanostictus from Lake Tanganyika  Academic Article
• Evidence for size and sex-specific dispersal in a cooperatively breeding cichlid fish  Academic Article
• Evidence for synergistic effects of PRNP and ATP7Bmutations in severe neuropsychiatric deterioration  Academic Article
• Evidence of a Founder Effect for the Protein C Gene 3363 Inserted C Mutation in Thrombophilic Pedigrees of French Origin  Academic Article
• Examining the Clinical Use of Hemochromatosis Genetic Testing  Academic Article
• Excess of Rare Variants in Non–Genome-Wide Association Study Candidate Genes in Patients With Hypertriglyceridemia  Academic Article
• Exome sequencing identifies rare LDLR and APOA5 alleles conferring risk for myocardial infarction  Academic Article
• Factor VII deficiency: clinical manifestation of 717 subjects from Europe and Latin America with mutations in the factor 7 gene  Academic Article
• Familial partial lipodystrophy presenting as metabolic syndrome  Academic Article
• Fetal haemoglobin levels and haematological characteristics of compound heterozygotes for haemoglobin S and deletional hereditary persistence of fetal haemoglobin  Academic Article
• Fetal hemoglobin in sickle cell anemia: a glass half full?  Academic Article
• Founder effect for the T93MDHCR7 mutation in Smith-Lemli-Opitz syndrome  Academic Article
• Frequent heteroplasmy and recombination in the mitochondrial genomes of the basidiomycete mushroom Thelephora ganbajun  Academic Article
• GRIN2Bencephalopathy: novel findings on phenotype, variant clustering, functional consequences and treatment aspects  Academic Article
• Gene symbol: ARSA.  Academic Article
• Genetic Analyses of the Internal Transcribed Spacer Sequences Suggest Introgression and Duplication in the Medicinal Mushroom Agaricus subrufescens  Academic Article
• Genetic analysis indicates that transcription factors AP-2alpha and Pax6 cooperate in the normal patterning and morphogenesis of the lens.  Academic Article
• Genetic risk factors associated with lipid-lowering drug-induced myopathies  Academic Article
• Genetic variants of MARCO are associated with susceptibility to pulmonary tuberculosis in a Gambian population  Academic Article
• Genitopatellar syndrome and neuroblastoma: The multidisciplinary management of a previously unreported association  Academic Article
• Germline BRCA1 Mutations and a Basal Epithelial Phenotype in Breast Cancer  Academic Article
• Haemoglobin D Los Angeles, D-β⁺-Thalassaemia, and D-β°- Thalassaemia  Academic Article
• Haemoglobin Q-Thailand and hereditary spherocytosis in a Chinese family  Academic Article
• Hb Castilla [β32(B14)Leu → Arg] Caused by a De Novo Mutation  Academic Article
• Hb E/Hb LeporeHollandia in a family from Bangladesh  Academic Article
• Hb H hydrops foetalis syndrome: a case report and review of literature  Academic Article
• Hb S/ +-thalassemia due to Hb sickle and a novel deletion of DNase I hypersensitive sites HS3 and HS4 of the   locus control region  Academic Article
• Hb S/β°-Thalassemia due to the ˜1.4-kb deletion is associated with a relatively mild phenotype  Academic Article
• Hemoglobin E diseases: Hematological, analytical, and biosynthetic studies in homozygotes and double heterozygotes for α-thalassemia  Academic Article
• Hemoglobin H (Hb H) disease in Canada: Molecular diagnosis and review of 116 cases  Academic Article
• Hereditary Persistence of Fetal Hemoglobin Caused by Single Nucleotide Promoter Mutations in Sickle Cell Trait and Hb SC Disease  Academic Article
• Heterozygous Mutations Causing Partial Prohormone Convertase 1 Deficiency Contribute to Human Obesity  Academic Article
• Hyperdibasicaminoaciduria: An Inherited Disorder of Amino Acid Transport[34]  Academic Article
• IDENTIFICATION OF TWO NEW β-THALASSEMIA SPLICE MUTATIONS: IVS-I-1 (G → C) AND IVS-I (−2) (A → C)  Academic Article
• Identifican of A New High Oxygen Affinity Hemoglobin Variant: Hb Aurora [β139(H17)Asn→Tyr]  Academic Article
• Identification of a New β-Thalassemia Nonsense Mutation [Codon 59 (AAG→TAG)]  Academic Article
• Identification of a new hemoglobin variant: Hb St. Joseph's [β77(EF1)His→Leu]  Academic Article
• Identification of an extensive ζ-α globin gene deletion in a Chinese individual  Academic Article
• Identification of restriction-fragment-length polymorphisms in genomic DNA of the lesser snow goose (Anser caerulescens caerulescens).  Academic Article
• Impact of ACE2 gene polymorphism on antihypertensive efficacy of ACE inhibitors  Academic Article
• Integrins Regulate Responsiveness to Slit Repellent Signals  Academic Article
• Interaction between GPR120 p.R270H loss-of-function variant and dietary fat intake on incident type 2 diabetes risk in the D.E.S.I.R. study  Academic Article
• 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  Academic Article
• Leigh syndrome associated with mitochondrial complex I deficiency due to novel mutations In NDUFV1 and NDUFS2  Academic Article
• Low genic variation in male-reproductive-tract proteins of Drosophila melanogaster and D. simulans.  Academic Article
• Magnetic Resonance Imaging Improves Breast Screening Sensitivity in BRCA Mutation Carriers Age ≥ 50 Years: Evidence From an Individual Patient Data Meta-Analysis  Academic Article
• Males With MECP2 C-terminal-Related Atypical Rett Syndromes and Their Carrier Mothers  Academic Article
• Management of Patients with Hereditary Hypercoagulable Disorders  Academic Article
• Mental retardation in heterozygotes for the fragile-X mutation: evidence in favor of an X inactivation-dependent effect.  Academic Article
• Mesenteric-portal Vein Thrombosis in a Patient with Hyperhomocysteinemia and Heterozygous for 20210A Prothrombin Allele  Academic Article
• Metachromatic leukodystrophy: Multiple nonfunctional and pseudodeficiency alleles in a pedigree: Problems with diagnosis and counseling  Academic Article
• 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)  Academic Article
• Missense variants in the N-terminal domain of the A isoform of FHF2/FGF13 cause an X-linked developmental and epileptic encephalopathy  Academic Article
• Modulation of Gut Microbiota Composition by Serotonin Signaling Influences Intestinal Immune Response and Susceptibility to Colitis  Academic Article
• Molecular genetic analysis of severe protein C deficiency.  Academic Article
• Mutations in SRCAP, Encoding SNF2-Related CREBBP Activator Protein, Cause Floating-Harbor Syndrome  Academic Article
• NOVEL β-THALASSEMIA MUTATION IN A β-THALASSEMIA INTERMEDIA PATIENT [POLY A (AATAAA →GATAAA)]  Academic Article
• Novel SCO2 mutation (G1521A) presenting as a spinal muscular atrophy type I phenotype  Academic Article
• Parents of children with spinal muscular atrophy are not obligate carriers: Carrier testing is important for reproductive decision-making  Academic Article
• Patients with thalassemia in the United States  Academic Article
• Patterns of allele distribution in a hybrid population of theCryptococcus neoformansspecies complex  Academic Article
• Performance of heterozygous brain-derived neurotrophic factor knockout mice on behavioral analogues of anxiety, nociception, and depression.  Academic Article
• Peripheral blood epi-signature of Claes-Jensen syndrome enables sensitive and specific identification of patients and healthy carriers with pathogenic mutations in KDM5C  Academic Article
• Pharmacogenetic profiling across the irinotecan pathway in Asian patients with cancer  Academic Article
• Phenotypic Analysis of Arrhythmogenic Cardiomyopathy in the Hutterite Population: Role of Electrocardiogram in Identifying High‐Risk Desmocollin‐2 Carriers  Academic Article
• Phenotypic variability associated with progranulin haploinsufficiency in patients with the common 1477C-->T (Arg493X) mutation: an international initiative.  Academic Article
• Prevalence and Genotypes of α- and β-Thalassemia Carriers in Hong Kong — Implications for Population Screening  Academic Article
• Prevalence of common MEFV mutations and carrier frequencies in a large cohort of Iranian populations  Academic Article
• RNA-Seq effectively monitors gene expression in Eutrema salsugineum plants growing in an extreme natural habitat and in controlled growth cabinet conditions  Academic Article
• Rates of risk-reducing surgery in IsraeliBRCA1andBRCA2mutation carriers  Academic Article
• Re: Magnetic Resonance Imaging and Mammography in Women With a Hereditary Risk of Breast Cancer  Academic Article
• Recombination between the factor VIII gene and the DXS52 locus gives the most probable genetic order as centromere-FRA(X)-DXS15-DXS52-F8C-telomere  Academic Article
• Reduced capacity to repair irradiated adenovirus in fibroblasts from xeroderma pigmentosum heterozygotes.  Academic Article
• Report of the first patient with a homozygous OTUD7A variant responsible for epileptic encephalopathy and related proteasome dysfunction  Academic Article
• Risk of Recurrent Venous Thromboembolism in Patients With Common Thrombophilia  Academic Article
• SLOS carrier frequency in Poland as determined by screening for Trp151X and Val326Leu DHCR7 mutations  Academic Article
• Serum alpha - fetoprotein levels in patients with cystic fibrosis and their parents and siblings.  Academic Article
• 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?  Academic Article
• Sickle Cell Traits in Canada  Academic Article
• Sickle cell disease caused by Hb S/Québec-CHORI: Treatment with hydroxyurea and response  Academic Article
• Sickle cell disease caused by heterozygosity for Hb S and novel LCR deletion: Report of two patients  Academic Article
• Sickle cell disease due to compound heterozygosity for Hb S and a novel 7.7-kb ?-globin gene deletion  Academic Article
• Signatures of natural selection and ethnic-specific prevalence of NPC1 pathogenic mutations contributing to obesity and Niemann–Pick disease type C1  Academic Article
• Single CT Scan Prolongs Survival by Extending Cancer Latency inTrp53Heterozygous Mice  Academic Article
• Smith-Lemli-Opitz syndrome: phenotypic extreme with minimal clinical findings  Academic Article
• Smith–Lemli–Opitz syndrome with a classical phenotype, oesophageal achalasia and borderline plasma sterol concentrations  Academic Article
• Spectrum of β-Thalassemia Mutations in Egypt  Academic Article
• THE Hb S/β+-Thalassemia Phenotype Demonstrates that the IVS-I (−2) (A>C) Mutation is a Mild β-Thalassemia Allele  Academic Article
• Ten-Year Multi-Institutional Results of Breast-Conserving Surgery and Radiotherapy in BRCA1/2-Associated Stage I/II Breast Cancer  Academic Article
• The Effects of Weak Genetic Perturbations on the Transcriptome of the Wing Imaginal Disc and Its Association With Wing Shape in Drosophila melanogaster  Academic Article
• The Interaction of Anti 3. 7 Type Quadruplicated α-Globin Genes and Heterozygous β-Thalassemia  Academic Article
• The Pea3 Ets transcription factor regulates differentiation of multipotent progenitor cells during mammary gland development  Academic Article
• The Phenotypic Spectrum of a Mutation Hotspot Responsible for the Short QT Syndrome  Academic Article
• The association between smoking and cancer incidence in BRCA1 and BRCA2 mutation carriers  Academic Article
• The relationship between CYP2C19 polymorphisms and ischaemic and bleeding outcomes in stable outpatients: the CHARISMA genetics study  Academic Article
• Thrombosis in inherited factor VII deficiency  Academic Article
• Thymic stromal lymphopoietin (TSLP) secretion from human nasal epithelium is a function of TSLP genotype  Academic Article
• Treatment of a Lysosomal Storage Disease, Mucopolysaccharidosis VII, with Microencapsulated Recombinant Cells  Academic Article
• Trinucleotide repeat polymorphism within the human antithrombin gene (AT3): allele frequency data for three population groups  Academic Article
• Twin concordance and sibling recurrence rates in multiple sclerosis  Academic Article
• Two different missense mutations at Arg 178 of the protein C (PROC) gene causing recurrent venous thrombosis  Academic Article
• Variation and heritability of Hb F and F-cells among β-thalassemia heterozygotes in Hong Kong  Academic Article
• Vitamin D dependency: an inherited postnatal syndrome with secondary hyperparathyroidism.  Academic Article
• α1-Antitrypsin Deficiency Alleles in Cystic Fibrosis Lung Disease  Academic Article
• β+-Thalassemia Trait Due to a Novel Mutation in the β-Globin Gene Promoter: −26 (A>C) [HBB c.−76A>C]  Academic Article
• β-thalassemia intermedia caused by compound heterozygosity for Hb Malay (β codon 19 AAC→AGC; Asn→Ser) and codons 41/42 (-CTTT) β0-thalassemia mutation  Academic Article
• β-thalassemia intermedia due to compound heterozygosity for two β-globin gene promoter mutations, including a novel TATA box deletion  Academic Article
• δβ-Thalassemia in an African-American: Identification of the deletion endpoints and PCR-Based diagnosis  Academic Article