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Academic Journal

[Clinical hearing phenotypes analysis of GJB2 gene p.V37I homozygote and compound heterozygote mutation in infants].

  • Authors : Ruan Y; Department of Otolaryngology Head and Neck Surgery，Beijing Tongren Hospital，Capital Medical University，Beijing Institute of Otolaryngology，Key Laboratory of Otolaryngology Head and Neck Surgery（Capital Medical University.; Wen C

Subjects: Connexin 26* ; Heterozygote* ; Homozygote*

  • Source: Lin chuang er bi yan hou tou jing wai ke za zhi = Journal of clinical otorhinolaryngology head and neck surgery [Lin Chuang Er Bi Yan Hou Tou Jing Wai Ke Za Zhi] 2024 Dec; Vol. 38 (12), Publisher: Lin chuang er bi yan hou tou jing wai ke za zhi bain ji bu Country of Publication: China NLM ID: 101303164 Publication Model: Print Cited Medium:

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Academic Journal

A New Case of Abetalipoproteinemia Caused by Novel Compound Heterozygote Mutations in the MTTP Gene without Fat or Vitamin Malabsorption.

  • Authors : Sasaki K; Center for Preventive, Anti-aging and Regenerative Medicine, Fukuoka University Hospital.; Division of Anti-aging and Vascular Medicine, Department of Internal Medicine, National Defense Medical College.

Subjects: Abetalipoproteinemia*/Abetalipoproteinemia*/Abetalipoproteinemia*/genetics ; Abetalipoproteinemia*/Abetalipoproteinemia*/Abetalipoproteinemia*/diagnosis ; Mutation*

  • Source: Journal of atherosclerosis and thrombosis [J Atheroscler Thromb] 2024 Nov 01; Vol. 31 (11), pp. 1634-1640. Date of Electronic Publication: 2024 May 14.Publisher: Japan Atherosclerosis Society Country of Publication: Japan NLM ID: 9506298 Publication Model: Print-Electronic Cited Medium: Internet

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Editorial & Opinion

Reproductive disorders in homozygote and heterozygote patients with familial Mediterranean fever patients and controls.

  • Authors : Sotskiy P; Center of Medical Genetics and Primary Health Care, Yerevan, Armenia.; Sotskaya O

Subjects: Familial Mediterranean Fever*/Familial Mediterranean Fever*/Familial Mediterranean Fever*/genetics ; Familial Mediterranean Fever*/Familial Mediterranean Fever*/Familial Mediterranean Fever*/diagnosis ; Familial Mediterranean Fever*/Familial Mediterranean Fever*/Familial Mediterranean Fever*/complications

  • Source: Clinical and experimental rheumatology [Clin Exp Rheumatol] 2024 Oct; Vol. 42 (10), pp. 2102. Date of Electronic Publication: 2024 Sep 19.Publisher: Clinical And Experimental Rheumatology S.A.S Country of Publication: Italy NLM ID: 8308521 Publication Model: Print-Electronic Cited Medium:

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Academic Journal

A compound heterozygote case of glutaric aciduria type II in a patient carrying a novel candidate variant in ETFDH gene: A case report and literature review on compound heterozygote cases.

Subjects: Electron-Transferring Flavoproteins*/Electron-Transferring Flavoproteins*/Electron-Transferring Flavoproteins*/genetics ; Iron-Sulfur Proteins*/Iron-Sulfur Proteins*/Iron-Sulfur Proteins*/genetics ; Oxidoreductases Acting on CH-NH Group Donors*/Oxidoreductases Acting on CH-NH Group Donors*/Oxidoreductases Acting on CH-NH Group Donors*/genetics Glutaric aciduria 2

  • Source: Molecular genetics & genomic medicine [Mol Genet Genomic Med] 2024 Jul; Vol. 12 (7), pp. e2489.Publisher: John Wiley & Sons Country of Publication: United States NLM ID: 101603758 Publication Model: Print Cited Medium: Internet ISSN:

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Academic Journal

Genetic and mechanistic evaluation of an individual with para-Bombay phenotype associated with a compound heterozygote comprising two novel FUT1 variants.

  • Authors : Ying Y; Blood Center of Zhejiang Province, Hangzhou, Zhejiang, People's Republic of China.; Key Laboratory of Blood Safety Research of Zhejiang Province, Hangzhou, Zhejiang, People's Republic of China.

Subjects: Fucosyltransferases*/Fucosyltransferases*/Fucosyltransferases*/genetics ; ABO Blood-Group System*/ABO Blood-Group System*/ABO Blood-Group System*/genetics ; Heterozygote*

  • Source: Blood transfusion = Trasfusione del sangue [Blood Transfus] 2024 Sep; Vol. 22 (5), pp. 369-376. Date of Electronic Publication: 2023 Jul 14.Publisher: SIMTI servizi Country of Publication: Italy NLM ID: 101237479 Publication Model: Print-Electronic Cited Medium: Internet ISSN:

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Academic Journal

Phenotypes of carriers of two mutated alleles in major cancer susceptibility genes.

  • Authors : Laitman Y; The Oncogenetics Unit, The Institute of Human Genetics, Sheba Medical Center, Tel-Hashomer, Israel.; The Oncogenetics Service, Assuta Medical Centers, Tel Aviv, Israel.

Subjects: Genetic Predisposition to Disease* ; Heterozygote* ; Phenotype*

  • Source: Breast cancer research and treatment [Breast Cancer Res Treat] 2024 Dec; Vol. 208 (3), pp. 589-595. Date of Electronic Publication: 2024 Aug 05.Publisher: Kluwer Academic Country of Publication: Netherlands NLM ID: 8111104 Publication Model: Print-Electronic Cited Medium: Internet ISSN:

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Academic Journal

A heterozygous SPRY4 variant identified in female infertility characterized by reduced oocyte potential and early embryonic arrest.

  • Authors : Xia L; Shanghai-MOST Key Laboratory of Health and Disease Genomics, NHC Key Lab of Reproduction Regulation, Shanghai Institute for Biomedical and Pharmaceutical Technologies, Pharmacy School, Fudan University, Shanghai, PR China.; Huang J

Subjects: Infertility, Female*/Infertility, Female*/Infertility, Female*/genetics ; Heterozygote* ; Oocytes*/Oocytes*/Oocytes*/metabolism

  • Source: Human reproduction (Oxford, England) [Hum Reprod] 2024 Nov 01; Vol. 39 (11), pp. 2618-2629.Publisher: Oxford University Press Country of Publication: England NLM ID: 8701199 Publication Model: Print Cited Medium: Internet ISSN:

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Academic Journal

Identification of novel compound heterozygous variants of the ALMS1 gene in a child with Alström syndrome by whole genome sequencing.

  • Authors : Xu H; Department of Radiology, China-Japan Union Hospital of Jilin University, Changchun 130033, P.R. China.; Wang Z

Subjects: Alstrom Syndrome*/Alstrom Syndrome*/Alstrom Syndrome*/genetics ; Cell Cycle Proteins*/Cell Cycle Proteins*/Cell Cycle Proteins*/genetics ; Frameshift Mutation*

  • Source: Gene [Gene] 2024 Dec 15; Vol. 929, pp. 148827. Date of Electronic Publication: 2024 Aug 08.Publisher: Elsevier/North-Holland Country of Publication: Netherlands NLM ID: 7706761 Publication Model: Print-Electronic Cited Medium: Internet

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Academic Journal

[Study of a case of Juvenile neuronal ceroid lipofuscinosis due to compound heterozygous variants of PPT1 gene].

  • Authors : Zhang D; Department of Neurology, West China Hospital, Sichuan University, Chengdu, Sichuan 610041, China. .; Xu F

Subjects: Neuronal Ceroid-Lipofuscinoses*/Neuronal Ceroid-Lipofuscinoses*/Neuronal Ceroid-Lipofuscinoses*/genetics ; Heterozygote* ; Thiolester Hydrolases*/Thiolester Hydrolases*/Thiolester Hydrolases*/genetics

  • Source: Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics [Zhonghua Yi Xue Yi Chuan Xue Za Zhi] 2024 Dec 10; Vol. 41 (12), pp. 1469-1472.Publisher: Sichuan University Country of Publication: China NLM ID: 9425197 Publication Model: Print Cited Medium: Print ISSN: 1003-9406 (Print)

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Academic Journal

Luminal breast epithelial cells of BRCA1 or BRCA2 mutation carriers and noncarriers harbor common breast cancer copy number alterations.

  • Authors : Williams MJ; Computational Oncology, Department of Epidemiology and Biostatistics, Memorial Sloan Kettering Cancer Center, New York City, NY, USA.; The Halvorsen Center for Computational Oncology, Memorial Sloan Kettering Cancer Center, New York City, NY, USA.

Subjects: Breast Neoplasms*/Breast Neoplasms*/Breast Neoplasms*/genetics ; Breast Neoplasms*/Breast Neoplasms*/Breast Neoplasms*/pathology ; DNA Copy Number Variations*

  • Source: Nature genetics [Nat Genet] 2024 Dec; Vol. 56 (12), pp. 2753-2762. Date of Electronic Publication: 2024 Nov 20.Publisher: Nature Pub. Co Country of Publication: United States NLM ID: 9216904 Publication Model: Print-Electronic Cited Medium: Internet ISSN:

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  • 1-10 of  248,344 results for ""Heterozygote""