Skip directly to search Skip directly to A to Z list Skip directly to navigation Skip directly to page options Skip directly to site content

Human Genome Epidemiology Literature Finder|Home|PHGKB

Human Genome Epidemiology Literature Finder


Last data update: Dec 10, 2023. (Total: 223917Documents)
   dataset        GWAS Only
Filtered By:

Previous    

Records 1 - 9 (of 9 Records)

Query Trace: Retinal Dystrophies and CEP290[original query]
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
TOP