Human Genome Epidemiology Literature Finder
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Records 1 - 16 (of 16 Records) |
| Query Trace: Disease and CEP290[original query] |
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| Clinical and molecular genetics of Leber's congenital amaurosis: a multicenter study of Italian patients. Investigative ophthalmology & visual science 2007 Sep 48 (9): 4284-90. Simonelli Francesca, Ziviello Carmela, Testa Francesco, Rossi Settimio, Fazzi Elisa, Bianchi Paolo Emilio, Fossarello Maurizio, Signorini Sabrina, Bertone Chiara, Galantuomo Silvana, Brancati Francesco, Valente Enza Maria, Ciccodicola Alfredo, Rinaldi Ernesto, Auricchio Alberto, Banfi Sand |
| Allelic heterogeneity and genetic modifier loci contribute to clinical variation in males with X-linked retinitis pigmentosa due to RPGR mutations. PloS one 2011 6 (8): e23021. Fahim Abigail T, Bowne Sara J, Sullivan Lori S, Webb Kaylie D, Williams Jessica T, Wheaton Dianna K, Birch David G, Daiger Stephen |
| High-throughput mutation analysis in patients with a nephronophthisis-associated ciliopathy applying multiplexed barcoded array-based PCR amplification and next-generation sequencing. Journal of medical genetics 2012 Dec 49 (12): 756-67. Halbritter Jan, Diaz Katrina, Chaki Moumita, Porath Jonathan D, Tarrier Brendan, Fu Clementine, Innis Jamie L, Allen Susan J, Lyons Robert H, Stefanidis Constantinos J, Omran Heymut, Soliman Neveen A, Otto Edgar |
| Joubert syndrome: genotyping a Northern European patient cohort. European journal of human genetics : EJHG 2015 Apr . Kroes Hester Y, Monroe Glen R, van der Zwaag Bert, Duran Karen J, de Kovel Carolien G, van Roosmalen Mark J, Harakalova Magdalena, Nijman Ies J, Kloosterman Wigard P, Giles Rachel H, Knoers Nine Vam, van Haaften Gi |
| Genome-Wide Detection of Copy Number Variations in Unsolved Inherited Retinal Disease. Investigative ophthalmology & visual science 2017 1 58 (1): 424-429. Huang Xiu-Feng, Mao Jian-Yang, Huang Zhi-Qin, Rao Feng-Qin, Cheng Fei-Fei, Li Fen-Fen, Wang Qing-Feng, Jin Zi-Bi |
| 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 |
| Exome sequencing study of 20 patients with high myopia. PeerJ 2018 9 6 e5552. Wan Ling, Deng Boling, Wu Zhengzheng, Chen Xiaomi |
| Leber Congenital Amaurosis Associated with Mutations in CEP290, Clinical Phenotype, and Natural History in Preparation for Trials of Novel Therapies. Ophthalmology 2018 2 125 (6): 894-903. Sheck Leo, Davies Wayne I L, Moradi Phillip, Robson Anthony G, Kumaran Neruban, Liasis Alki C, Webster Andrew R, Moore Anthony T, Michaelides Mich |
| 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 |
| Genetic and clinical findings in a Chinese cohort with Leber congenital amaurosis and early onset severe retinal dystrophy. The British journal of ophthalmology 2019 10 104 (7): 932-937. Xu Ke, Xie Yue, Sun Tengyang, Zhang Xiaohui, Chen Chunjie, Li Ya |
| Clinical and Molecular Diagnosis of Joubert Syndrome and Related Disorders. Pediatric neurology 2020 3 106 43-49. Radha Rama Devi Akella, Naushad Shaik Mohammad, Lingappa Loke |
| 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 |
| Genetic characteristics and epidemiology of inherited retinal degeneration in Taiwan. NPJ genomic medicine 2021 2 6 (1): 16. Chen Ta-Ching, Huang Ding-Siang, Lin Chao-Wen, Yang Chang-Hao, Yang Chung-May, Wang Victoria Y, Lin Jou-Wei, Luo Allen Chilun, Hu Fung-Rong, Chen Pei-Lu |
| Frequency and Genetic Spectrum of Inherited Retinal Dystrophies in a Large Dutch Pediatric Cohort: The RD5000 Consortium. Investigative ophthalmology & visual science 2024 8 65 (10): 40. Pam A T Heutinck, L Ingeborgh van den Born, Maikel Vermeer, Adriana I Iglesias Gonzales, Carel B Hoyng, Jan Willem R Pott, Hester Y Kroes, Mary J van Schooneveld, Camiel J F Boon, Maria M van Genderen, Astrid S Plomp, Yvonne de Jong-Hesse, Michelle B van Egmond-Ebbeling, Lies H Hoefsloot, Arthur A Bergen, Caroline C W Klaver, Magda A Meester-Smoor, Alberta A H J Thiadens, Virginie J M Verhoev |
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