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  • 1-10 of  635 results for ""Retinitis Pigmentosa""

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Academic Journal

A novel compound heterozygous PCDH15 variants is associated with arRP in a Chinese pedigree.

  • Authors : Yang H; Department of Ophthalmology, Eye, ENT Hospital of Fudan University, Shanghai, 200031, China.; Shanghai Key Laboratory of Visual Impairment, Restoration, Fudan University, Shanghai, 200031, China.

Subjects: Cadherin Related Proteins*/Cadherin Related Proteins*/Cadherin Related Proteins*/genetics ; Retinitis Pigmentosa*/Retinitis Pigmentosa*/Retinitis Pigmentosa*/genetics; Adult

  • Source: BMC ophthalmology [BMC Ophthalmol] 2024 Aug 26; Vol. 24 (1), pp. 373. Date of Electronic Publication: 2024 Aug 26.Publisher: BioMed Central Country of Publication: England NLM ID: 100967802 Publication Model: Electronic Cited Medium: Internet ISSN: 1471-2415

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Academic Journal

[Analysis of a patient with early-onset retinitis pigmentosa due to novel variants of CRB1 gene].

  • Authors : Yi M; Department of Medical Genetics, West China Hospital, Sichuan University, Chengdu, Sichuan 610041, China. .; Tao D

Subjects: Genomics* ; Retinitis Pigmentosa*/Retinitis Pigmentosa*/Retinitis Pigmentosa*/genetics; Male

  • 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] 2023 Sep 10; Vol. 40 (9), pp. 1160-1164.Publisher: Sichuan University Country of Publication: China NLM ID: 9425197 Publication Model: Print Cited Medium: Print

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Academic Journal

Clinical and whole exome sequencing findings in children from Yunnan Yi minority ethnic group with retinitis pigmentosa: two case reports.

  • Authors : Xiao YS; Department of Ophthalmology, Kunming Children's Hospital, Kunming Medical University, Kunming, 650228, Yunnan, People's Republic of China.; He WJ

Subjects: Ethnicity*/Ethnicity*/Ethnicity*/genetics ; Retinitis Pigmentosa*/Retinitis Pigmentosa*/Retinitis Pigmentosa*/genetics ; Retinitis Pigmentosa*/Retinitis Pigmentosa*/Retinitis Pigmentosa*/diagnosis

  • Source: Journal of medical case reports [J Med Case Rep] 2023 Jun 02; Vol. 17 (1), pp. 226. Date of Electronic Publication: 2023 Jun 02.Publisher: BioMed Central Country of Publication: England NLM ID: 101293382 Publication Model: Electronic Cited Medium: Internet ISSN: 1752-1947

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Academic Journal

A novel homozygous TUB mutation associated with autosomal recessive retinitis pigmentosa in a consanguineous Chinese family.

  • Authors : Xu W; Central Laboratory, Hunan Provincial People's Hospital (the First Affiliated Hospital of Hunan Normal University), Changsha, 410000, China.; Xu M

Subjects: Adaptor Proteins, Signal Transducing*/Adaptor Proteins, Signal Transducing*/Adaptor Proteins, Signal Transducing*/genetics ; Retinitis Pigmentosa*/Retinitis Pigmentosa*/Retinitis Pigmentosa*/genetics; Humans

  • Source: BMC medical genomics [BMC Med Genomics] 2023 Jan 18; Vol. 16 (1), pp. 9. Date of Electronic Publication: 2023 Jan 18.Publisher: BioMed Central Country of Publication: England NLM ID: 101319628 Publication Model: Electronic Cited Medium: Internet ISSN: 1755-8794

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Academic Journal

Clinical and Genetic Analysis of Retinitis Pigmentosa with Primary Angle Closure Glaucoma in the Chinese Population.

  • Authors : Wang DD; Eye Institute, Eye and ENT Hospital, Shanghai Medical College, Fudan University, Shanghai, China.; Shanghai Key Laboratory of Visual Impairment and Restoration, Science and Technology Commission of Shanghai Municipality, Shanghai, China.

Subjects: Glaucoma, Angle-Closure*/Glaucoma, Angle-Closure*/Glaucoma, Angle-Closure*/diagnosis ; Glaucoma, Angle-Closure*/Glaucoma, Angle-Closure*/Glaucoma, Angle-Closure*/epidemiology ; Glaucoma, Angle-Closure*/Glaucoma, Angle-Closure*/Glaucoma, Angle-Closure*/genetics

  • Source: Current eye research [Curr Eye Res] 2022 Sep; Vol. 47 (9), pp. 1339-1345. Date of Electronic Publication: 2022 Aug 03.Publisher: Informa Healthcare Country of Publication: England NLM ID: 8104312 Publication Model: Print-Electronic Cited Medium: Internet ISSN:

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Academic Journal

Prevalence and optical coherence tomography analyses of outer retinal tubulations in Chinese population with inherited retinal diseases.

  • Authors : Chen Y; Department of Ophthalmology, Shanghai General Hospital, Shanghai Jiao Tong University School of Medicine, Shanghai, China.; National Clinical Research Center for Ophthalmic Diseases, Shanghai, China.

Subjects: Retinal Diseases*/Retinal Diseases*/Retinal Diseases*/epidemiology ; Retinitis Pigmentosa*/Retinitis Pigmentosa*/Retinitis Pigmentosa*/genetics ; Cysts* Bietti Crystalline Dystrophy

  • Source: Eye (London, England) [Eye (Lond)] 2024 Feb; Vol. 38 (2), pp. 328-334. Date of Electronic Publication: 2023 Aug 08.Publisher: Nature Publishing Group Country of Publication: England NLM ID: 8703986 Publication Model: Print-Electronic Cited Medium: Internet ISSN:

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Academic Journal

First preimplantation genetic testing case of Meckel syndrome with a novel homozygous TXNDC15 variant in a non-consanguineous Chinese family.

  • Authors : Xu H; Department of Reproductive Medicine, Shenzhen Maternity & Child Healthcare Hospital, Shenzhen, Guangdong, China.; Pu J

Subjects: Polycystic Kidney Diseases*/Polycystic Kidney Diseases*/Polycystic Kidney Diseases*/genetics ; Ciliary Motility Disorders*/Ciliary Motility Disorders*/Ciliary Motility Disorders*/diagnosis ; Ciliary Motility Disorders*/Ciliary Motility Disorders*/Ciliary Motility Disorders*/genetics Meckel syndrome type 1

  • Source: Molecular genetics & genomic medicine [Mol Genet Genomic Med] 2024 Jan; Vol. 12 (1), pp. e2340. Date of Electronic Publication: 2023 Dec 11.Publisher: John Wiley & Sons Country of Publication: United States NLM ID: 101603758 Publication Model: Print-Electronic Cited Medium: Internet ISSN:

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Academic Journal

Whole exome sequencing analysis identifies novel Stargardt disease-related gene mutations in Chinese Stargardt disease and retinitis pigmentosa patients.

  • Authors : Ng TK; Joint Shantou International Eye Center of Shantou University and The Chinese University of Hong Kong, Shantou, Guangdong, China.; Shantou University Medical College, Shantou, Guangdong, China.

Subjects: Exome*/Exome*/Exome*/genetics ; Retinitis Pigmentosa*/Retinitis Pigmentosa*/Retinitis Pigmentosa*/diagnosis ; Retinitis Pigmentosa*/Retinitis Pigmentosa*/Retinitis Pigmentosa*/genetics

  • Source: Eye (London, England) [Eye (Lond)] 2022 Apr; Vol. 36 (4), pp. 749-759. Date of Electronic Publication: 2021 Apr 12.Publisher: Nature Publishing Group Country of Publication: England NLM ID: 8703986 Publication Model: Print-Electronic Cited Medium: Internet ISSN:

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Academic Journal

Clinical and genetic investigations in Chinese families with retinitis pigmentosa.

  • Authors : Chen L; Shenzhen Eye Hospital, Shenzhen Key Laboratory of Ophthalmology, Affiliated Shenzhen Eye Hospital of Jinan University, Shenzhen 518040, Guangdong, P.R. China.; Wang N

Subjects: Retinitis Pigmentosa*/Retinitis Pigmentosa*/Retinitis Pigmentosa*/genetics ; Retinitis Pigmentosa*/Retinitis Pigmentosa*/Retinitis Pigmentosa*/pathology; Asian People/Asian People/Asian People/genetics

  • Source: Experimental biology and medicine (Maywood, N.J.) [Exp Biol Med (Maywood)] 2022 Jun; Vol. 247 (12), pp. 1030-1038. Date of Electronic Publication: 2022 Apr 11.Publisher: Sage Country of Publication: England NLM ID: 100973463 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1535-3699

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Academic Journal

Novel variants in PDE6A and PDE6B genes and its phenotypes in patients with retinitis pigmentosa in Chinese families.

  • Authors : Li Y; Beijing Tongren Eye Center, Beijing Tongren Hospital, Capital Medical University, Beijing Ophthalmology & Visual Sciences Key Lab, Beijing, 100730, People's Republic of China.; Li R

Subjects: Eye Proteins*/Eye Proteins*/Eye Proteins*/genetics ; Retinitis Pigmentosa*/Retinitis Pigmentosa*/Retinitis Pigmentosa*/genetics; China/China/China/epidemiology

  • Source: BMC ophthalmology [BMC Ophthalmol] 2022 Jan 15; Vol. 22 (1), pp. 27. Date of Electronic Publication: 2022 Jan 15.Publisher: BioMed Central Country of Publication: England NLM ID: 100967802 Publication Model: Electronic Cited Medium: Internet ISSN: 1471-2415

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  • 1-10 of  635 results for ""Retinitis Pigmentosa""