نتائج البحث

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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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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Identification of novel USH2A mutations in patients with autosomal recessive retinitis pigmentosa via targeted next-generation sequencing.

• Authors : Zhu, Xiong¹ (AUTHOR); Li, Xiao¹ (AUTHOR); Tian, Wanli¹ (AUTHOR)

• Source: Molecular Medicine Reports. Jul2020, Vol. 22 Issue 1, p193-200. 8p.

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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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Genetic and clinical findings of panel‐based targeted exome sequencing in a northeast Chinese cohort with retinitis pigmentosa.

• Authors : Sun, Yan^1,2 (AUTHOR); Li, Wei^2,3,4 (AUTHOR); Li, Jian‐kang^4,5,6 (AUTHOR)

• Source: Molecular Genetics & Genomic Medicine. Apr2020, Vol. 8 Issue 4, p1-12. 12p.

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Correlation between Genotype and Phenotype in 69 Chinese Patients with USH2A Mutations: A comparative study of the patients with Usher Syndrome and Nonsyndromic Retinitis Pigmentosa.

• Authors : Meng X; Department of Ophthalmology, Peking University Third Hospital, Beijing Key Laboratory of Restoration of Damaged Ocular Nerve, Beijing, China.; Liu X

Subjects: Mutation*; DNA/DNA/DNA/*genetics ; Extracellular Matrix Proteins/Extracellular Matrix Proteins/Extracellular Matrix Proteins/*genetics Usher syndrome, type 2A

• Source: Acta ophthalmologica [Acta Ophthalmol] 2021 Jun; Vol. 99 (4), pp. e447-e460. Date of Electronic Publication: 2020 Oct 29.Publisher: Wiley-Blackwell Country of Publication: England NLM ID: 101468102 Publication Model: Print-Electronic Cited Medium: Internet ISSN:

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Targeted next-generation sequencing reveals that a compound heterozygous mutation in phosphodiesterase 6a gene leads to retinitis pigmentosa in a Chinese family.

• Authors : Zhang S; a Key Laboratory for Human Disease Gene Study, Sichuan Provincial People's Hospital, School of Medicine , University of Electronic Science and Technology of China , Chengdu , Sichuan , China.; Li J

Subjects: Mutation*; Asian People/Asian People/Asian People/*genetics ; Cyclic Nucleotide Phosphodiesterases, Type 6/Cyclic Nucleotide Phosphodiesterases, Type 6/Cyclic Nucleotide Phosphodiesterases, Type 6/*genetics

• Source: Ophthalmic genetics [Ophthalmic Genet] 2018 Aug; Vol. 39 (4), pp. 487-491. Date of Electronic Publication: 2018 Apr 25.Publisher: Informa Healthcare Country of Publication: England NLM ID: 9436057 Publication Model: Print-Electronic Cited Medium: Internet ISSN:

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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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Mutations in RPGR and RP2 of Chinese Patients with X-Linked Retinitis Pigmentosa.

• Authors : Ji, Yanli¹ (AUTHOR); Wang, Juan¹ (AUTHOR); Xiao, Xueshan¹ (AUTHOR)

• Source: Current Eye Research. Jan2010, Vol. 35 Issue 1, p73-79. 7p. 1 Diagram, 1 Chart, 2 Graphs.

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Screening for the Carbonic Anhydrase IV Gene Mutations in Chinese Retinitis Pigmentosa Patients.

• Authors : Tian, Yu¹ (AUTHOR); Tang, Luosheng¹ (AUTHOR); Cui, Juanlian¹ (AUTHOR)

• Source: Current Eye Research. May2010, Vol. 35 Issue 5, p440-444. 5p. 2 Color Photographs, 1 Chart, 1 Graph.

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