131 related articles for article (PubMed ID: 17277737)
1. Large genomic rearrangements within the PCDH15 gene are a significant cause of USH1F syndrome.
Le Guédard S; Faugère V; Malcolm S; Claustres M; Roux AF
Mol Vis; 2007 Jan; 13():102-7. PubMed ID: 17277737
[TBL] [Abstract][Full Text] [Related]
2. Identification of large rearrangements of the PCDH15 gene by combined MLPA and a CGH: large duplications are responsible for Usher syndrome.
Aller E; Jaijo T; García-García G; Aparisi MJ; Blesa D; Díaz-Llopis M; Ayuso C; Millán JM
Invest Ophthalmol Vis Sci; 2010 Nov; 51(11):5480-5. PubMed ID: 20538994
[TBL] [Abstract][Full Text] [Related]
3. Mutation screening of the PCDH15 gene in Spanish patients with Usher syndrome type I.
Jaijo T; Oshima A; Aller E; Carney C; Usami S; Millán JM; Kimberling WJ
Mol Vis; 2012; 18():1719-26. PubMed ID: 22815625
[TBL] [Abstract][Full Text] [Related]
4. Partial USH2A deletions contribute to Usher syndrome in Denmark.
Dad S; Rendtorff ND; Kann E; Albrechtsen A; Mehrjouy MM; Bak M; Tommerup N; Tranebjærg L; Rosenberg T; Jensen H; Møller LB
Eur J Hum Genet; 2015 Dec; 23(12):1646-51. PubMed ID: 25804404
[TBL] [Abstract][Full Text] [Related]
5. Gene structure and mutant alleles of PCDH15: nonsyndromic deafness DFNB23 and type 1 Usher syndrome.
Ahmed ZM; Riazuddin S; Aye S; Ali RA; Venselaar H; Anwar S; Belyantseva PP; Qasim M; Riazuddin S; Friedman TB
Hum Genet; 2008 Oct; 124(3):215-23. PubMed ID: 18719945
[TBL] [Abstract][Full Text] [Related]
6. Survey of the frequency of USH1 gene mutations in a cohort of Usher patients shows the importance of cadherin 23 and protocadherin 15 genes and establishes a detection rate of above 90%.
Roux AF; Faugère V; Le Guédard S; Pallares-Ruiz N; Vielle A; Chambert S; Marlin S; Hamel C; Gilbert B; Malcolm S; Claustres M;
J Med Genet; 2006 Sep; 43(9):763-8. PubMed ID: 16679490
[TBL] [Abstract][Full Text] [Related]
7. 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]
8. Dual AAV-based PCDH15 gene therapy achieves sustained rescue of visual function in a mouse model of Usher syndrome 1F.
Riaz S; Sethna S; Duncan T; Naeem MA; Redmond TM; Riazuddin S; Riazuddin S; Carvalho LS; Ahmed ZM
Mol Ther; 2023 Dec; 31(12):3490-3501. PubMed ID: 37864333
[TBL] [Abstract][Full Text] [Related]
9. Truncating variants in the majority of the cytoplasmic domain of PCDH15 are unlikely to cause Usher syndrome 1F.
Perreault-Micale C; Frieden A; Kennedy CJ; Neitzel D; Sullivan J; Faulkner N; Hallam S; Greger V
J Mol Diagn; 2014 Nov; 16(6):673-8. PubMed ID: 25307757
[TBL] [Abstract][Full Text] [Related]
10. Photoreceptor expression of the Usher syndrome type 1 protein protocadherin 15 (USH1F) and its interaction with the scaffold protein harmonin (USH1C).
Reiners J; Märker T; Jürgens K; Reidel B; Wolfrum U
Mol Vis; 2005 May; 11():347-55. PubMed ID: 15928608
[TBL] [Abstract][Full Text] [Related]
11. Cochlear implantation in individuals with Usher type 1 syndrome.
Liu XZ; Angeli SI; Rajput K; Yan D; Hodges AV; Eshraghi A; Telischi FF; Balkany TJ
Int J Pediatr Otorhinolaryngol; 2008 Jun; 72(6):841-7. PubMed ID: 18395802
[TBL] [Abstract][Full Text] [Related]
12. Rescue of hearing by adenine base editing in a humanized mouse model of Usher syndrome type 1F.
Peters CW; Hanlon KS; Ivanchenko MV; Zinn E; Linarte EF; Li Y; Levy JM; Liu DR; Kleinstiver BP; Indzhykulian AA; Corey DP
Mol Ther; 2023 Aug; 31(8):2439-2453. PubMed ID: 37312453
[TBL] [Abstract][Full Text] [Related]
13. Mini-PCDH15 gene therapy rescues hearing in a mouse model of Usher syndrome type 1F.
Ivanchenko MV; Hathaway DM; Klein AJ; Pan B; Strelkova O; De-la-Torre P; Wu X; Peters CW; Mulhall EM; Booth KT; Goldstein C; Brower J; Sotomayor M; Indzhykulian AA; Corey DP
Nat Commun; 2023 Apr; 14(1):2400. PubMed ID: 37100771
[TBL] [Abstract][Full Text] [Related]
14. Proposed therapy, developed in a
Sethna S; Zein WM; Riaz S; Giese AP; Schultz JM; Duncan T; Hufnagel RB; Brewer CC; Griffith AJ; Redmond TM; Riazuddin S; Friedman TB; Ahmed ZM
Elife; 2021 Nov; 10():. PubMed ID: 34751129
[TBL] [Abstract][Full Text] [Related]
15. Mutations in the novel protocadherin PCDH15 cause Usher syndrome type 1F.
Alagramam KN; Yuan H; Kuehn MH; Murcia CL; Wayne S; Srisailpathy CR; Lowry RB; Knaus R; Van Laer L; Bernier FP; Schwartz S; Lee C; Morton CC; Mullins RF; Ramesh A; Van Camp G; Hageman GS; Woychik RP; Smith RJ
Hum Mol Genet; 2001 Aug; 10(16):1709-18. PubMed ID: 11487575
[TBL] [Abstract][Full Text] [Related]
16. Ames Waltzer deaf mice have reduced electroretinogram amplitudes and complex alternative splicing of Pcdh15 transcripts.
Haywood-Watson RJ; Ahmed ZM; Kjellstrom S; Bush RA; Takada Y; Hampton LL; Battey JF; Sieving PA; Friedman TB
Invest Ophthalmol Vis Sci; 2006 Jul; 47(7):3074-84. PubMed ID: 16799054
[TBL] [Abstract][Full Text] [Related]
17. In vitro and ex vivo suppression by aminoglycosides of PCDH15 nonsense mutations underlying type 1 Usher syndrome.
Rebibo-Sabbah A; Nudelman I; Ahmed ZM; Baasov T; Ben-Yosef T
Hum Genet; 2007 Nov; 122(3-4):373-81. PubMed ID: 17653769
[TBL] [Abstract][Full Text] [Related]
18. Evidence of genetic heterogeneity in Alberta Hutterites with Usher syndrome type I.
Zhou Q; Lenger C; Smith R; Kimberling WJ; Ye M; Lehmann O; MacDonald I
Mol Vis; 2012; 18():1379-83. PubMed ID: 22690115
[TBL] [Abstract][Full Text] [Related]
19. High occurrence of BRCA1 intragenic rearrangements in hereditary breast and ovarian cancer syndrome in the Czech Republic.
Vasickova P; Machackova E; Lukesova M; Damborsky J; Horky O; Pavlu H; Kuklova J; Kosinova V; Navratilova M; Foretova L
BMC Med Genet; 2007 Jun; 8():32. PubMed ID: 17561994
[TBL] [Abstract][Full Text] [Related]
20. Characterization of Usher syndrome type I gene mutations in an Usher syndrome patient population.
Ouyang XM; Yan D; Du LL; Hejtmancik JF; Jacobson SG; Nance WE; Li AR; Angeli S; Kaiser M; Newton V; Brown SD; Balkany T; Liu XZ
Hum Genet; 2005 Mar; 116(4):292-9. PubMed ID: 15660226
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]