These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.
5. CDH23 mutation and phenotype heterogeneity: a profile of 107 diverse families with Usher syndrome and nonsyndromic deafness. Astuto LM; Bork JM; Weston MD; Askew JW; Fields RR; Orten DJ; Ohliger SJ; Riazuddin S; Morell RJ; Khan S; Riazuddin S; Kremer H; van Hauwe P; Moller CG; Cremers CW; Ayuso C; Heckenlively JR; Rohrschneider K; Spandau U; Greenberg J; Ramesar R; Reardon W; Bitoun P; Millan J; Legge R; Friedman TB; Kimberling WJ Am J Hum Genet; 2002 Aug; 71(2):262-75. PubMed ID: 12075507 [TBL] [Abstract][Full Text] [Related]
6. CDH23-Associated Usher Syndrome: Clinical Features, Retinal Imaging, and Natural History. de Guimaraes TAC; Robson AG; de Guimaraes IMC; Laich Y; Aychoua N; Wright G; Kalitzeos A; Mahroo OA; Webster AR; Michaelides M Invest Ophthalmol Vis Sci; 2024 Jul; 65(8):27. PubMed ID: 39017633 [TBL] [Abstract][Full Text] [Related]
7. 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. Meng X; Liu X; Li Y; Guo T; Yang L Acta Ophthalmol; 2021 Jun; 99(4):e447-e460. PubMed ID: 33124170 [TBL] [Abstract][Full Text] [Related]
8. Variable clinical features in patients with CDH23 mutations (USH1D-DFNB12). Pennings RJ; Topsakal V; Astuto L; de Brouwer AP; Wagenaar M; Huygen PL; Kimberling WJ; Deutman AF; Kremer H; Cremers CW Otol Neurotol; 2004 Sep; 25(5):699-706. PubMed ID: 15353998 [TBL] [Abstract][Full Text] [Related]
10. Hypomorphic Farag S; Yusuf IH; Kaukonen M; Taylor LJ; Charbel Issa P; MacLaren RE Ophthalmic Genet; 2024 Apr; 45(2):201-206. PubMed ID: 37728066 [TBL] [Abstract][Full Text] [Related]
11. Genetic analysis of Tunisian families with Usher syndrome type 1: toward improving early molecular diagnosis. Ben-Rebeh I; Grati M; Bonnet C; Bouassida W; Hadjamor I; Ayadi H; Ghorbel A; Petit C; Masmoudi S Mol Vis; 2016; 22():827-35. PubMed ID: 27440999 [TBL] [Abstract][Full Text] [Related]
12. Case report: novel PCDH15 variant causes usher syndrome type 1F with congenital hearing loss and syndromic retinitis pigmentosa. Chen N; Lee H; Kim AH; Liu PK; Kang EY; Tseng YJ; Seo GH; Khang R; Liu L; Chen KJ; Wu WC; Hsiao MC; Wang NK BMC Ophthalmol; 2022 Nov; 22(1):441. PubMed ID: 36384460 [TBL] [Abstract][Full Text] [Related]
13. [Study on syndromic deafness caused by novel pattern of compound heterozygous variants in the Chen B; Zhang S; Tian YA; Liu HF; Liu DH; Xue X; Li RJ; Hu XX; Guan JY; Tang WX; Xu HE Zhonghua Er Bi Yan Hou Tou Jing Wai Ke Za Zhi; 2020 Sep; 55(9):822-829. PubMed ID: 32911884 [No Abstract] [Full Text] [Related]
14. Genetic profile of syndromic retinitis pigmentosa in Portugal. Cortinhal T; Santos C; Vaz-Pereira S; Marta A; Duarte L; Miranda V; Costa J; Sousa AB; Peter VG; Kaminska K; Rivolta C; Carvalho AL; Saraiva J; Soares CA; Silva R; Murta J; Santos LC; Marques JP Graefes Arch Clin Exp Ophthalmol; 2024 Jun; 262(6):1883-1897. PubMed ID: 38189974 [TBL] [Abstract][Full Text] [Related]
15. Molecular Epidemiology in 591 Italian Probands With Nonsyndromic Retinitis Pigmentosa and Usher Syndrome. Colombo L; Maltese PE; Castori M; El Shamieh S; Zeitz C; Audo I; Zulian A; Marinelli C; Benedetti S; Costantini A; Bressan S; Percio M; Ferri P; Abeshi A; Bertelli M; Rossetti L Invest Ophthalmol Vis Sci; 2021 Feb; 62(2):13. PubMed ID: 33576794 [TBL] [Abstract][Full Text] [Related]
17. Identification and in vitro expression of novel CDH23 mutations of patients with Usher syndrome type 1D. von Brederlow B; Bolz H; Janecke A; La O Cabrera A; Rudolph G; Lorenz B; Schwinger E; Gal A Hum Mutat; 2002 Mar; 19(3):268-73. PubMed ID: 11857743 [TBL] [Abstract][Full Text] [Related]
18. Variants in CDH23 cause a broad spectrum of hearing loss: from non-syndromic to syndromic hearing loss as well as from congenital to age-related hearing loss. Usami SI; Isaka Y; Miyagawa M; Nishio SY Hum Genet; 2022 Apr; 141(3-4):903-914. PubMed ID: 35020051 [TBL] [Abstract][Full Text] [Related]
19. Zhu T; Chen DF; Wang L; Wu S; Wei X; Li H; Jin ZB; Sui R Br J Ophthalmol; 2021 May; 105(5):694-703. PubMed ID: 32675063 [TBL] [Abstract][Full Text] [Related]