157 related articles for article (PubMed ID: 15043528)
21. Clinical and preclinical therapeutic outcome metrics for USH2A-related disease.
Toms M; Dubis AM; de Vrieze E; Tracey-White D; Mitsios A; Hayes M; Broekman S; Baxendale S; Utoomprurkporn N; Bamiou D; Bitner-Glindzicz M; Webster AR; Van Wijk E; Moosajee M
Hum Mol Genet; 2020 Jul; 29(11):1882-1899. PubMed ID: 31998945
[TBL] [Abstract][Full Text] [Related]
22. Spectrum of USH2A mutations in Scandinavian patients with Usher syndrome type II.
Dreyer B; Brox V; Tranebjaerg L; Rosenberg T; Sadeghi AM; Möller C; Nilssen O
Hum Mutat; 2008 Mar; 29(3):451. PubMed ID: 18273898
[TBL] [Abstract][Full Text] [Related]
23. Baseline Visual Field Findings in the RUSH2A Study: Associated Factors and Correlation With Other Measures of Disease Severity.
Duncan JL; Liang W; Maguire MG; Audo I; Ayala AR; Birch DG; Carroll J; Cheetham JK; Esposti SD; Durham TA; Erker L; Farsiu S; Ferris FL; Heon E; Hufnagel RB; Iannaccone A; Jaffe GJ; Kay CN; Michaelides M; Pennesi ME; Sahel JA;
Am J Ophthalmol; 2020 Nov; 219():87-100. PubMed ID: 32446738
[TBL] [Abstract][Full Text] [Related]
24. Molecular basis of human Usher syndrome: deciphering the meshes of the Usher protein network provides insights into the pathomechanisms of the Usher disease.
Reiners J; Nagel-Wolfrum K; Jürgens K; Märker T; Wolfrum U
Exp Eye Res; 2006 Jul; 83(1):97-119. PubMed ID: 16545802
[TBL] [Abstract][Full Text] [Related]
25. [Mutational frequencies in usherin(USH2A gene) in 26 Colombian individuals with Usher syndrome type II].
López G; Gelvez NY; Tamayo M
Biomedica; 2011 Mar; 31(1):82-90. PubMed ID: 22159486
[TBL] [Abstract][Full Text] [Related]
26. Pure tone hearing thresholds and speech recognition scores in Dutch patients carrying mutations in the USH2A gene.
Pennings RJ; Huygen PL; Weston MD; van Aarem A; Wagenaar M; Kimberling WJ; Cremers CW
Otol Neurotol; 2003 Jan; 24(1):58-63. PubMed ID: 12544030
[TBL] [Abstract][Full Text] [Related]
27. Prevalence of 2314delG mutation in Spanish patients with Usher syndrome type II (USH2).
Beneyto MM; Cuevas JM; Millán JM; Espinós C; Mateu E; González-Cabo P; Baiget M; Doménech M; Bernal S; Ayuso C; García-Sandoval B; Trujillo MJ; Borrego S; Antiñolo G; Carballo M; Nájera C
Ophthalmic Genet; 2000 Jun; 21(2):123-8. PubMed ID: 10916187
[TBL] [Abstract][Full Text] [Related]
28. CLINICAL PRESENTATION AND DISEASE COURSE OF USHER SYNDROME BECAUSE OF MUTATIONS IN MYO7A OR USH2A.
Testa F; Melillo P; Bonnet C; Marcelli V; de Benedictis A; Colucci R; Gallo B; Kurtenbach A; Rossi S; Marciano E; Auricchio A; Petit C; Zrenner E; Simonelli F
Retina; 2017 Aug; 37(8):1581-1590. PubMed ID: 27828912
[TBL] [Abstract][Full Text] [Related]
29. Twelve novel myosin VIIA mutations in 34 patients with Usher syndrome type I: confirmation of genetic heterogeneity.
Janecke AR; Meins M; Sadeghi M; Grundmann K; Apfelstedt-Sylla E; Zrenner E; Rosenberg T; Gal A
Hum Mutat; 1999; 13(2):133-40. PubMed ID: 10094549
[TBL] [Abstract][Full Text] [Related]
30. Spectrum of mutations in USH2A in British patients with Usher syndrome type II.
Leroy BP; Aragon-Martin JA; Weston MD; Bessant DA; Willis C; Webster AR; Bird AC; Kimberling WJ; Payne AM; Bhattacharya SS
Exp Eye Res; 2001 May; 72(5):503-9. PubMed ID: 11311042
[TBL] [Abstract][Full Text] [Related]
31. Clinical and genetic studies in Spanish patients with Usher syndrome type II: description of new mutations and evidence for a lack of genotype--phenotype correlation.
Bernal S; Medà C; Solans T; Ayuso C; Garcia-Sandoval B; Valverde D; Del Rio E; Baiget M
Clin Genet; 2005 Sep; 68(3):204-14. PubMed ID: 16098008
[TBL] [Abstract][Full Text] [Related]
32. Genetic analysis of a four generation Indian family with Usher syndrome: a novel insertion mutation in MYO7A.
Kumar A; Babu M; Kimberling WJ; Venkatesh CP
Mol Vis; 2004 Nov; 10():910-6. PubMed ID: 15592175
[TBL] [Abstract][Full Text] [Related]
33. Reading performance in patients with retinitis pigmentosa: a study using the MNREAD charts.
Virgili G; Pierrottet C; Parmeggiani F; Pennino M; Giacomelli G; Steindler P; Menchini U; Orzalesi N;
Invest Ophthalmol Vis Sci; 2004 Oct; 45(10):3418-24. PubMed ID: 15452044
[TBL] [Abstract][Full Text] [Related]
34. Visual acuity and visual field impairment in Usher syndrome.
Edwards A; Fishman GA; Anderson RJ; Grover S; Derlacki DJ
Arch Ophthalmol; 1998 Feb; 116(2):165-8. PubMed ID: 9488267
[TBL] [Abstract][Full Text] [Related]
35. Hearing impairment related to age in Usher syndrome types 1B and 2A.
Wagenaar M; van Aarem A; Huygen P; Pieke-Dahl S; Kimberling W; Cremers C
Arch Otolaryngol Head Neck Surg; 1999 Apr; 125(4):441-5. PubMed ID: 10208682
[TBL] [Abstract][Full Text] [Related]
36. Cell transplantation to arrest early changes in an ush2a animal model.
Lu B; Wang S; Francis PJ; Li T; Gamm DM; Capowski EE; Lund RD
Invest Ophthalmol Vis Sci; 2010 Apr; 51(4):2269-76. PubMed ID: 19959642
[TBL] [Abstract][Full Text] [Related]
37. Functional analysis of splicing mutations in MYO7A and USH2A genes.
Jaijo T; Aller E; Aparisi MJ; García-García G; Hernan I; Gamundi MJ; Nájera C; Carballo M; Millán JM
Clin Genet; 2011 Mar; 79(3):282-8. PubMed ID: 20497194
[TBL] [Abstract][Full Text] [Related]
38. Assessment of functional vision score and vision-specific quality of life in individuals with retinitis pigmentosa.
Seo JH; Yu HG; Lee BJ
Korean J Ophthalmol; 2009 Sep; 23(3):164-8. PubMed ID: 19794942
[TBL] [Abstract][Full Text] [Related]
39. Patterns of visual field progression in patients with retinitis pigmentosa.
Grover S; Fishman GA; Brown J
Ophthalmology; 1998 Jun; 105(6):1069-75. PubMed ID: 9627658
[TBL] [Abstract][Full Text] [Related]
40. Defective myosin VIIA gene responsible for Usher syndrome type 1B.
Weil D; Blanchard S; Kaplan J; Guilford P; Gibson F; Walsh J; Mburu P; Varela A; Levilliers J; Weston MD
Nature; 1995 Mar; 374(6517):60-1. PubMed ID: 7870171
[TBL] [Abstract][Full Text] [Related]
[Previous] [Next] [New Search]