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Clinical and genetic investigation of a large Tunisian family with complete achromatopsia: identification of a new nonsense mutation in GNAT2 gene.

• Authors : Ouechtati, Farah; Merdassi, Ahlem; Bouyacoub, Yosra

Subjects: COLOR blindness; COLOR vision; GENETIC mutationTUNISIA

• Source: Journal of Human Genetics. Jan2011, Vol. 56 Issue 1, p22-28. 7p.

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Biallelic CDK9variants as a cause of a new multiple-malformation syndrome with retinal dystrophy mimicking the CHARGE syndrome

• Authors : Nishina, Sachiko; Hosono, Katsuhiro; Ishitani, Shizuka

• Source: Journal of Human Genetics; October 2021, Vol. 66 Issue: 10 p1021-1027, 7p

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Linkage analysis and mutation screening of the rhodopsin gene in a Chinese Bai family with autosomal dominant retinitis pigmentosa.

• Authors : Haike Guo; Yongjie Qin; Qianli Meng

Subjects: RETINITIS pigmentosa; ETHNIC groups; GENESCHINA

• Source: Journal of Human Genetics. Sep2010, Vol. 55 Issue 9, p571-576. 6p. 1 Color Photograph, 2 Diagrams, 3 Charts, 1 Graph.

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Biallelic CDK9 variants as a cause of a new multiple-malformation syndrome with retinal dystrophy mimicking the CHARGE syndrome.

• Authors : Nishina S; Department of Ophthalmology and Laboratory for Visual Science, National Center for Child Health and Development, Tokyo, Japan. .; Hosono K

Subjects: Blepharophimosis/Blepharophimosis/Blepharophimosis/*genetics ; CHARGE Syndrome/CHARGE Syndrome/CHARGE Syndrome/*genetics ; Cyclin-Dependent Kinase 9/Cyclin-Dependent Kinase 9/Cyclin-Dependent Kinase 9/*genetics

• Source: Journal of human genetics [J Hum Genet] 2021 Oct; Vol. 66 (10), pp. 1021-1027. Date of Electronic Publication: 2021 Feb 27.Publisher: Nature Pub. Group Country of Publication: England NLM ID: 9808008 Publication Model: Print-Electronic Cited Medium: Internet ISSN:

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The phenotypic and molecular genetic spectrum of Alström syndrome in 44 Turkish kindreds and a literature review of Alström syndrome in Turkey.

• Authors : Ozantürk, Ayşegül; Marshall, Jan D; Collin, Gayle B

Subjects: HUMAN phenotype; MOLECULAR genetics; ALSTROM syndromeTURKEY

• Source: Journal of Human Genetics. Jan2015, Vol. 60 Issue 1, p1-9. 9p.

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Mutation analysis of the MYO7A and CDH23 genes in Japanese patients with Usher syndrome type 1.

• Authors : Nakanishi, Hiroshi; Ohtsubo, Masafumi; Iwasaki, Satoshi

Subjects: USHER'S syndrome; GENETIC mutation; GENESJAPAN

• Source: Journal of Human Genetics. Dec2010, Vol. 55 Issue 12, p796-800. 5p. 2 Diagrams, 3 Charts, 1 Graph.

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Mutation analysis in the long isoform of USH2A in American patients with Usher Syndrome type II.

• Authors : Yan, Denise; Xiaomei Ouyang; Patterson, D. Michael

Subjects: USHER'S syndrome; HEARING disorders; RETINITIS pigmentosa

• Source: Journal of Human Genetics. Dec2009, Vol. 54 Issue 12, p732-738. 7p. 2 Diagrams, 3 Charts.

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Confirmation of a genetic locus for X-linked recessive high myopia outside MYP1.

• Authors : Qingjiong Zhang; Shiqiang Li; Xueshan Xiao

Subjects: MYOPIA; REFRACTIVE errors; VISION disorders

• Source: Journal of Human Genetics. May2007, Vol. 52 Issue 5, p469-472. 4p.

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Linkage analysis of two families with X-linked recessive congenital motor nystagmus.

• Authors : Xiangming Guo; Shiqiang Li; Xiaoyun Jia

Subjects: SEX chromosomes; OCCUPATIONAL diseases; CELL nucleiGUANGDONG Sheng (China); CHINA

• Source: Journal of Human Genetics. Jan2006, Vol. 51 Issue 1, p76-80. 5p. 3 Diagrams, 1 Chart.

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LRRTM4-C538Y novel gene mutation is associated with hereditary macular degeneration with novel dysfunction of ON-type bipolar cells.

• Authors : Kawamura Y; Division of Molecular and Cellular Biology, National Institute of Sensory Organs, National Hospital Organization, Tokyo Medical Center, 2-5-1, Higashigaoka, Meguro-ku, Tokyo, 152-8902, Japan.; Department of Ophthalmology, Juntendo University Graduate School of Medicine, 2-1-1, Hongou, Bunkyo-ku, Tokyo, 113-8421, Japan.

Subjects: Genetic Association Studies* ; Genetic Predisposition to Disease*; Macular Degeneration/Macular Degeneration/Macular Degeneration/*pathology

• Source: Journal of human genetics [J Hum Genet] 2018 Aug; Vol. 63 (8), pp. 893-900. Date of Electronic Publication: 2018 May 14.Publisher: Nature Pub. Group Country of Publication: England NLM ID: 9808008 Publication Model: Print-Electronic Cited Medium: Internet ISSN:

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