Human Genome Epidemiology Literature Finder
Records 1 - 9 (of 9 Records) |
Query Trace: Retinal Dystrophies and CEP290[original query] |
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Diagnostic application of clinical exome sequencing in Leber congenital amaurosis. Molecular vision 2017 10 23 649-659. Han Jinu, Rim John Hoon, Hwang In Sik, Kim Jieun, Shin Saeam, Lee Seung-Tae, Choi Jong R |
Searching the second hit in patients with inherited retinal dystrophies and monoallelic variants in ABCA4, USH2A and CEP290 by whole-gene targeted sequencing. Scientific reports 2018 Sep 8 (1): 13312. González-Del Pozo María, Martín-Sánchez Marta, Bravo-Gil Nereida, Méndez-Vidal Cristina, Chimenea Ángel, Rodríguez-de la Rúa Enrique, Borrego Salud, Antiñolo Guiller |
Next-generation sequencing identifies unexpected genotype-phenotype correlations in patients with retinitis pigmentosa. PloS one 2018 12 13 (12): e0207958. Birtel Johannes, Gliem Martin, Mangold Elisabeth, Müller Philipp L, Holz Frank G, Neuhaus Christine, Lenzner Steffen, Zahnleiter Diana, Betz Christian, Eisenberger Tobias, Bolz Hanno J, Charbel Issa Pet |
Relative frequency of inherited retinal dystrophies in Brazil. Scientific reports 2018 Oct 8 (1): 15939. Motta Fabiana Louise, Martin Renan Paulo, Filippelli-Silva Rafael, Salles Mariana Vallim, Sallum Juliana Maria Ferr |
Clinical and molecular findings in a cohort of 152 Brazilian severe early onset inherited retinal dystrophy patients. American journal of medical genetics. Part C, Seminars in medical genetics 2020 9 184 (3): 728-752. Sallum Juliana Maria Ferraz, Motta Fabiana Louise, Arno Gavin, Porto Fernanda Belga Ottoni, Resende Rosane Guazi, Belfort Rube |
Novel gene variants in Polish patients with Leber congenital amaurosis (LCA). Orphanet journal of rare diseases 2020 Dec 15 (1): 345. Skorczyk-Werner Anna, Niedziela Zuzanna, Stopa Marcin, Krawczy?ski Maciej Robe |
Spectrum of Disease Severity in Nonsyndromic Patients With Mutations in the CEP290 Gene: A Multicentric Longitudinal Study. Investigative ophthalmology & visual science 2021 7 62 (9): 1. Testa Francesco, Sodi Andrea, Signorini Sabrina, Di Iorio Valentina, Murro Vittoria, Brunetti-Pierri Raffaella, Valente Enza Maria, Karali Marianthi, Melillo Paolo, Banfi Sandro, Simonelli Frances |
Clinical and Molecular Features of a Chinese Cohort With Syndromic and Nonsyndromic Retinal Dystrophies Related to the CEP290 Gene. American journal of ophthalmology 2022 12 248 96-106. Zhu Tian, Shen Yue, Sun Zixi, Han Xiaoxu, Wei Xing, Li Wuyi, Lu Chao, Cheng Tingting, Zou Xuan, Li Hui, Cao Zongfu, Gao Huafang, Ma Xu, Luo Minna, Sui Ruifa |
Molecular background of Leber congenital amaurosis in a Polish cohort of patients-novel variants discovered by NGS. Journal of applied genetics 2022 11 64 (1): 89-104. Skorczyk-Werner Anna, Sowi?ska-Seidler Anna, Wawrocka Anna, Walczak-Sztulpa Joanna, Krawczy?ski Maciej Robe |
- Page last reviewed:Oct 1, 2023
- Page last updated:Dec 04, 2023
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