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