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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 Novel Homozygote Pathogenic Variant in the DIAPH1 Gene Associated With Seizures, Cortical Blindness, and Microcephaly Syndrome (SCBMS): Report of a Family and Literature Review.

Subjects: Formins*/Formins*/Formins*/genetics ; Homozygote* ; Microcephaly*/Microcephaly*/Microcephaly*/genetics

  • Source: Molecular genetics & genomic medicine [Mol Genet Genomic Med] 2024 Nov; Vol. 12 (11), pp. e70031.Publisher: John Wiley & Sons Country of Publication: United States NLM ID: 101603758 Publication Model: Print Cited Medium: Internet ISSN:

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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

Unmeasurable low vitamin D levels caused by a novel, homozygote loss-of-function variant in the group-specific component gene.

  • Authors : Nygaard RH; Department of Clinical Biochemistry, Aarhus University Hospital, 8200 Aarhus, Denmark.; Lauritzen ES

Subjects: Vitamin D*/Vitamin D*/Vitamin D*/blood ; Vitamin D Deficiency*/Vitamin D Deficiency*/Vitamin D Deficiency*/genetics ; Vitamin D Deficiency*/Vitamin D Deficiency*/Vitamin D Deficiency*/blood

  • Source: European journal of endocrinology [Eur J Endocrinol] 2024 Jun 05; Vol. 190 (6), pp. K53-K56.Publisher: Oxford University Press Country of Publication: England NLM ID: 9423848 Publication Model: Print Cited Medium: Internet ISSN:

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Academic Journal

Preliminary Evaluation for the Development of a Scoring System to Predict Homozygous M694V Genotype in Familial Mediterranean Fever Patients: A Single-Center Study.

  • Authors : Tunce E; From the Department of Pediatric Rheumatology, Ümraniye Training and Research Hospital, University of Health Sciences, İstanbul, Turkey.; Uçar SA

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*/physiopathology

  • Source: Journal of clinical rheumatology : practical reports on rheumatic & musculoskeletal diseases [J Clin Rheumatol] 2025 Jan 01; Vol. 31 (1), pp. 7-11.Publisher: Lippincott Williams & Wilkins Country of Publication: United States NLM ID: 9518034 Publication Model: Print Cited Medium: Internet ISSN:

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Academic Journal

Loss of MTAP expression is strongly linked to homozygous 9p21 deletion, unfavorable tumor phenotype, and noninflamed microenvironment in urothelial bladder cancer.

  • Authors : Gorbokon N; Institute of Pathology, University Medical Center Hamburg-Eppendorf, Hamburg, Germany.; Wößner N

Subjects: Urinary Bladder Neoplasms*/Urinary Bladder Neoplasms*/Urinary Bladder Neoplasms*/genetics ; Urinary Bladder Neoplasms*/Urinary Bladder Neoplasms*/Urinary Bladder Neoplasms*/pathology ; Urinary Bladder Neoplasms*/Urinary Bladder Neoplasms*/Urinary Bladder Neoplasms*/mortality

  • Source: The journal of pathology. Clinical research [J Pathol Clin Res] 2025 Jan; Vol. 11 (1), pp. e70012.Publisher: Wiley Blackwell Country of Publication: England NLM ID: 101658534 Publication Model: Print Cited Medium: Internet ISSN: 2056-4538

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Academic Journal

Comparative Analysis of Runs of Homozygosity Islands in Indigenous and Commercial Chickens Revealed Candidate Loci for Disease Resistance and Production Traits.

Subjects: Chickens*/Chickens*/Chickens*/genetics ; Chickens*/Chickens*/Chickens*/physiology ; Chickens*/Chickens*/Chickens*/immunology

  • Source: Veterinary medicine and science [Vet Med Sci] 2025 Jan; Vol. 11 (1), pp. e70074.Publisher: John Wiley & Sons Ltd Country of Publication: England NLM ID: 101678837 Publication Model: Print Cited Medium: Internet ISSN:

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Academic Journal

Homozygosity for a Rare FASTKD2 Variant Resulting in an Adult Onset Autosomal Recessive Mitochondrial Podocytopathy.

  • Authors : Gonçalves FP; Department of Nephrology, São João University Hospital Center, Porto, Portugal; Department of Surgery and Physiology, Faculty of Medicine, University of Porto, Porto, Portugal.

Subjects: Homozygote*; Humans ; Male Mitochondrial cytopathy

  • Source: American journal of kidney diseases : the official journal of the National Kidney Foundation [Am J Kidney Dis] 2025 Jan; Vol. 85 (1), pp. 119-123. Date of Electronic Publication: Publisher: W.B. Saunders Country of Publication: United States NLM ID: 8110075 Publication Model: Print-Electronic Cited Medium: Internet ISSN:

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Academic Journal

A rare homozygous INS variant causes adult-onset diabetes.

  • Authors : Tans R; Translational Metabolic Laboratory, Department of Human Genetics, Radboud University Medical Center, Nijmegen, Netherlands .; Glendorf T

Subjects: Diabetes Mellitus, Type 2*/Diabetes Mellitus, Type 2*/Diabetes Mellitus, Type 2*/genetics ; Homozygote* ; Insulin*Mason-Type Diabetes

  • Source: BMJ open diabetes research & care [BMJ Open Diabetes Res Care] 2024 Dec 20; Vol. 12 (6). Date of Electronic Publication: 2024 Dec 20.Publisher: Published by BMJ in partnership with the American Diabetes Association Country of Publication: England NLM ID: 101641391 Publication Model:

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Academic Journal

Mortality and risk of diabetes, liver disease, and heart disease in individuals with haemochromatosis HFE C282Y homozygosity and normal concentrations of iron, transferrin saturation, or ferritin: prospective cohort study.

  • Authors : Mottelson M; Danish Red Blood Cell Center, Department of Hematology, Copenhagen University Hospital - Rigshospitalet, Copenhagen, Denmark.; Department of Clinical Medicine, University of Copenhagen, Copenhagen, Denmark.

Subjects: Ferritins*/Ferritins*/Ferritins*/blood ; Hemochromatosis*/Hemochromatosis*/Hemochromatosis*/genetics ; Hemochromatosis*/Hemochromatosis*/Hemochromatosis*/blood

  • Source: BMJ (Clinical research ed.) [BMJ] 2024 Dec 09; Vol. 387, pp. e079147. Date of Electronic Publication: 2024 Dec 09.Publisher: British Medical Association Country of Publication: England NLM ID: 8900488 Publication Model: Electronic Cited Medium: Internet ISSN:

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  • 1-10 of  129,074 results for ""Homozygote""