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Human Genome Epidemiology Literature Finder|Home|PHGKB

Human Genome Epidemiology Literature Finder


Last data update: Dec 10, 2024. (Total: 234259Documents)
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Records 1 - 6 (of 6 Records)

Query Trace: Retinitis Pigmentosa and TOPORS[original query]
Mutations in TOPORS: a rare cause of autosomal dominant retinitis pigmentosa in continental Europe?
Ophthalmic genetics 2009 Jun 30 (2): 96-8.
Schob Claudia, Orth Ulrike, Gal Andreas, Kindler Stefan, Chakarova Christina F, Bhattacharya Shomi S, Rüther Kla
Prevalence of mutations in eyeGENE probands with a diagnosis of autosomal dominant retinitis pigmentosa.
Investigative ophthalmology & visual science 2013 Sep 54 (9): 6255-61.
Sullivan Lori S, Bowne Sara J, Reeves Melissa J, Blain Delphine, Goetz Kerry, Ndifor Vida, Vitez Sally, Wang Xinjing, Tumminia Santa J, Daiger Stephen
Detection of novel mutations that cause autosomal dominant retinitis pigmentosa in candidate genes by long-range PCR amplification and next-generation sequencing.
Molecular vision 2013 19 654-64.
de Sousa Dias Miguel, Hernan Imma, Pascual Beatriz, Borràs Emma, Mañé Begoña, Gamundi Maria José, Carballo Migu
Genotype and Phenotype Studies in Autosomal Dominant Retinitis Pigmentosa (adRP) of the French Canadian Founder Population.
Investigative ophthalmology & visual science 2015 Dec 56 (13): 8297-305.
Coussa Razek Georges, Chakarova Christina, Ajlan Radwan, Taha Mohammed, Kavalec Conrad, Gomolin Julius, Khan Ayesha, Lopez Irma, Ren Huanan, Waseem Naushin, Kamenarova Kunka, Bhattacharya Shomi S, Koenekoop Robert
Mutations in Splicing Factor Genes Are a Major Cause of Autosomal Dominant Retinitis Pigmentosa in Belgian Families.
PloS one 2017 1 12 (1): e0170038.
Van Cauwenbergh Caroline, Coppieters Frauke, Roels Dimitri, De Jaegere Sarah, Flipts Helena, De Zaeytijd Julie, Walraedt Sophie, Claes Charlotte, Fransen Erik, Van Camp Guy, Depasse Fanny, Casteels Ingele, de Ravel Thomy, Leroy Bart P, De Baere Elfri
Mutations of TOPORS identified in families with retinitis pigmentosa.
Ophthalmic genetics 2022 3 43 (3): 371-377.
He Kaiwen, Zhou Yunyu, Li Ningdo
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