- ►nih.gov [PDF] - Free from Publisher A Schuster, N Weisschuh, H Jägle, D Besch, … - British Journal of Ophthalmology, 2005 - bjo.bmj.com Results: Mutation screening identified five different rhodopsin mutations
including three novel mutations: Ser176Phe, Arg314fs16, and Val20Gly and two
missense mutations, Pro215Leu and Thr289Pro, that were only reported once ... Cited by 11 - Related articles - BL Direct - All 9 versions
E Milla, M Maseras, M Martínez Gimeno, MJ … - Archivos de la Sociedad Española de Oftalmología, 2002 - europa.sim.ucm.es Objetivo: Análisis mutacional en un colectivo de pacientes afectos de retinosis
pigmentaria autosomática dominante (RPAD). Métodos: Exploración
oftalmológica completa que incluye pruebas de electrofisiología, ... Cited by 6 - Related articles - Cached - All 2 versions
F Mouriaux, M Hamedani, T Hurbli, Y Uteza, … - Journal français d'ophtalmologie - ncbi.nlm.nih.gov 1: J Fr Ophtalmol. 1999 Aug-Sep;22(7):799-809. [Waardenburg's syndrome]. [Article
in French] Mouriaux F, Hamedani M, Hurbli T, Uteza Y, Oubaaz A, Morax S. ... Cited by 6 - Related articles - BL Direct
J Gallo-Teran, C Morales-Angulo, M Rodriguez … - Acta otorrinolaringológica española, 2005 - ncbi.nlm.nih.gov INTRODUCTION: The most frequent mutations responsible for non-syndromic hearing
impairment in the Spanish population are the 35delG mutation in the connexin 26
gene (GJB2), the del(GJB6-D13S1830) deletion in the connexin 30 gene ... Cited by 7 - Related articles
TB Friedman, JT Hinnant, RA Fridell, ER …, 2000 - content.karger.com Reliable and complete phenotypic data are fundamental to a genetic analysis,
since incomplete clinical information can severely compromise a study to
determine the chromosomal address of a gene. In a family with many deaf ... Cited by 9 - Related articles - BL Direct - All 3 versions
S Bernal, T Solans, MJ Gamundi, I Hernan, L … - Clin Genet, 2008 - interscience.wiley.com The nuclear receptor protein NR2E3 is postulated to play an important role in
rod and cone photoreceptor development. NR2E3 gene mutational analyses were
carried out in 103 unrelated subjects with different retinal diseases. A ... Cited by 11 - Related articles - All 2 versions
L Kohn, K Kadzhaev, MSI Burstedt, S … - European Journal of Human Genetics, 2007 - Springer Progressive cone or cone-rod dystrophies (CORDs) characterized by a defec- tive
cone function demonstrate abnormalities in cone-mediated electroretinogram (ERG)
components. The presenting symptoms are defective color vision, impaired ... Cited by 11 - Related articles - BL Direct - All 7 versions
- ►iovs.org E Vallespin, D Cantalapiedra, R Riveiro- … - Investigative Ophthalmology & Visual Science, 2007 - ARVO PURPOSE. Leber Congenital Amaurosis (LCA) is one of the most severe inherited
retinal dystrophies with the earliest age of onset. This study was a mutational
analysis of eight genes (AIPL1, CRB1, CRX, GUCY2D, RPE65, RPGRIP1, MERTK, ... Cited by 10 - Related articles - BL Direct - All 2 versions
- ►nih.gov CF Chakarova, MG Papaioannou, H Khanna, I … - The American Journal of Human Genetics, 2007 - Elsevier We report mutations in the gene for topoisomerase I–binding RS protein
(TOPORS) in patients with autosomal dominant retinitis pigmentosa (adRP) linked
to chromosome 9p21.1 (locus RP31). A positional-cloning approach, together ... Cited by 11 - Related articles - BL Direct - All 6 versions
- ►iovs.org M Garcia-Hoyos, B Garcia-Sandoval, D … - Investigative ophthalmology & visual science, 2006 - ARVO PURPOSE. The X-linked form of retinitis pigmentosa (XLRP) is the most severe
type because of its early onset and rapid progression. Five XLRP loci have been
mapped, although only two genes, RPGR (for RP3) and RP2, have been cloned. ... Cited by 11 - Related articles - BL Direct - All 4 versions
