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Academic Journal

Differences in DYF387S1 copy number distribution among haplogroups caused by haplogroup-specific ancestral Y-chromosome mutations.

  • Authors : Watahiki H; National Research Institute of Police Science, 6-3-1, Kashiwanoha, Kashiwa, Chiba, 277-0882, Japan. Electronic address: .; Fujii K

Subjects: Chromosomes, Human, Y* ; DNA Copy Number Variations* ; Microsatellite Repeats*

  • Source: Forensic science international. Genetics [Forensic Sci Int Genet] 2020 Sep; Vol. 48, pp. 102315. Date of Electronic Publication: 2020 May 31.Publisher: Elsevier Country of Publication: Netherlands NLM ID: 101317016 Publication Model: Print-Electronic Cited Medium: Internet ISSN:

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Academic Journal

Next-generation sequencing for patients with non-obstructive azoospermia: implications for significant roles of monogenic/oligogenic mutations.

  • Authors : Nakamura S; Department of Molecular Endocrinology, National Research Institute for Child Health and Development, Tokyo, Japan.; Department of Pediatric Urology, Jichi Medical University, Children's Medical Center Tochigi, Tochigi, Japan.

Subjects: Comparative Genomic Hybridization* ; High-Throughput Nucleotide Sequencing* ; Multifactorial Inheritance* Azoospermia, Nonobstructive

  • Source: Andrology [Andrology] 2017 Jul; Vol. 5 (4), pp. 824-831.Publisher: Wiley-Blackwell Country of Publication: England NLM ID: 101585129 Publication Model: Print Cited Medium: Internet ISSN: 2047-2927

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Academic Journal

A Histologic Categorization of Aqueous Outflow Routes in Familial Open-Angle Glaucoma and Associations With Mutations in the MYOC Gene in Japanese Patients.

  • Authors : Hamanaka T; Department of Ophthalmology, Japanese Red Cross Medical Center, Shibuyaku, Tokyo, Japan.; Kimura M

Subjects: Mutation* ; Polymorphism, Genetic*; Aqueous Humor/Aqueous Humor/Aqueous Humor/*metabolism

  • Source: Investigative ophthalmology & visual science [Invest Ophthalmol Vis Sci] 2017 May 01; Vol. 58 (5), pp. 2818-2831.Publisher: Association For Research In Vision And Ophthalmology (Arvo) Country of Publication: United States NLM ID: 7703701 Publication Model: Print Cited

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Academic Journal

P450 Oxidoreductase deficiency: Analysis of mutations and polymorphisms.

  • Authors : Burkhard FZ; Division of Pediatric Endocrinology, Department of Pediatrics, University Children's Hospital Bern, and Department of Clinical Research, University of Bern, Switzerland.; Parween S

Subjects: Mutation* ; Polymorphism, Genetic*; Microsomes/Microsomes/Microsomes/*metabolism

  • Source: The Journal of steroid biochemistry and molecular biology [J Steroid Biochem Mol Biol] 2017 Jan; Vol. 165 (Pt A), pp. 38-50. Date of Electronic Publication: 2016 Apr 08.Publisher: Pergamon Country of Publication: England NLM ID: 9015483 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1879-1220

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Academic Journal

Analysis of CYP21A2 gene mutations in patients from Ukraine with congenital adrenal hyperplasia.

Subjects: Genetic Association Studies* ; Mutation* ; Polymorphism, Genetic*

  • Source: TSitologiia i genetika [Tsitol Genet] 2016 May-Jun; Vol. 50 (3), pp. 42-5.Publisher: Izdatelstvo Naukova Dumka Country of Publication: Ukraine NLM ID: 0101671 Publication Model: Print Cited Medium: Print ISSN: 0564-3783

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Academic Journal

WRN Mutation Update: Mutation Spectrum, Patient Registries, and Translational Prospects.

  • Authors : Yokote K; Department of Clinical Cell Biology and Medicine, Graduate School of Medicine, Chiba University, Chiba, Japan.; Chanprasert S

Subjects: Mutation*; Werner Syndrome/Werner Syndrome/Werner Syndrome/*genetics ; Werner Syndrome Helicase/Werner Syndrome Helicase/Werner Syndrome Helicase/*genetics

  • Source: Human mutation [Hum Mutat] 2017 Jan; Vol. 38 (1), pp. 7-15. Date of Electronic Publication: 2016 Oct 07.Publisher: Wiley-Liss Country of Publication: United States NLM ID: 9215429 Publication Model: Print-Electronic Cited Medium: Internet ISSN:

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Academic Journal

Report of 5 novel mutations of the α-L-iduronidase gene and comparison of Korean mutations in relation with those of Japan or China in patients with mucopolysaccharidosis I.

  • Authors : Kwak MJ; Department of Pediatrics, Pusan National University Hospital, Pusan National University School of Medicine, 179 Gudeok-ro, Seo-gu, Busan, 602-739, Korea.; Huh R

Subjects: Mutation*; Asian People/Asian People/Asian People/*genetics ; Iduronidase/Iduronidase/Iduronidase/*genetics

  • Source: BMC medical genetics [BMC Med Genet] 2016 Aug 12; Vol. 17 (1), pp. 58. Date of Electronic Publication: 2016 Aug 12.Publisher: BioMed Central Country of Publication: England NLM ID: 100968552 Publication Model: Electronic Cited Medium: Internet ISSN: 1471-2350

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Academic Journal

Genetic screening and double mutation in Japanese patients with hypertrophic cardiomyopathy.

  • Authors : Kubo T; Department of Medicine and Geriatrics, Kochi Medical School, Tokyo, Japan.; Kitaoka H

Subjects: Mutation* ; Polymorphism, Genetic*; Cardiomyopathy, Hypertrophic, Familial/Cardiomyopathy, Hypertrophic, Familial/Cardiomyopathy, Hypertrophic, Familial/*genetics

  • Source: Circulation journal : official journal of the Japanese Circulation Society [Circ J] 2011; Vol. 75 (11), pp. 2654-9. Date of Electronic Publication: 2011 Jul 29.Publisher: Japanese Circulation Society Country of Publication: Japan NLM ID: 101137683 Publication Model: Print-Electronic

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Academic Journal

Assessment of MEF2A mutations in myocardial infarction in Japanese patients.

Subjects: Mutation* ; Polymorphism, Genetic*; Myocardial Infarction/Myocardial Infarction/Myocardial Infarction/*genetics

  • Source: Circulation journal : official journal of the Japanese Circulation Society [Circ J] 2005 Oct; Vol. 69 (10), pp. 1192-5.Publisher: Japanese Circulation Society Country of Publication: Japan NLM ID: 101137683 Publication Model: Print Cited

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Editorial & Opinion

Met688Ile and Leu390Phe of the MSH2 gene are not functional mutations, but polymorphisms in Japanese individuals.

Subjects: Mutation* ; Polymorphism, Genetic*; DNA-Binding Proteins/DNA-Binding Proteins/DNA-Binding Proteins/*genetics

  • Source: Cancer genetics and cytogenetics [Cancer Genet Cytogenet] 2004 Nov; Vol. 155 (1), pp. 92.Publisher: Elsevier/North-Holland Country of Publication: United States NLM ID: 7909240 Publication Model: Print Cited Medium: Print ISSN:

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