Literature DB >> 9537410

De novo mutations in the CRX homeobox gene associated with Leber congenital amaurosis.

C L Freund, Q L Wang, S Chen, B L Muskat, C D Wiles, V C Sheffield, S G Jacobson, R R McInnes, D J Zack, E M Stone.   

Abstract

Entities:  

Mesh：

Substances：

Year:  1998        PMID： 9537410     DOI： 10.1038/ng0498-311

Source DB:  PubMed          Journal:  Nat Genet        ISSN： 1061-4036            Impact factor:   38.330


× No keyword cloud information.
  82 in total

1.  Null RPGRIP1 alleles in patients with Leber congenital amaurosis.

Authors:  T P Dryja; S M Adams; J L Grimsby; T L McGee; D H Hong; T Li; S Andréasson; E L Berson
Journal:  Am J Hum Genet       Date:  2001-03-29       Impact factor: 11.025

2.  Mutations in a new photoreceptor-pineal gene on 17p cause leber congenital amaurosis. Nat gen 2000;24:79-83

Authors: 
Journal:  Am J Ophthalmol       Date:  2000-06       Impact factor: 5.258

3.  Leber congenital amaurosis and retinitis pigmentosa with Coats-like exudative vasculopathy are associated with mutations in the crumbs homologue 1 (CRB1) gene.

Authors:  A I den Hollander; J R Heckenlively; L I van den Born; Y J de Kok; S D van der Velde-Visser; U Kellner; B Jurklies; M J van Schooneveld; A Blankenagel; K Rohrschneider; B Wissinger; J R Cruysberg; A F Deutman; H G Brunner; E Apfelstedt-Sylla; C B Hoyng; F P Cremers
Journal:  Am J Hum Genet       Date:  2001-05-24       Impact factor: 11.025

4.  An unusual retinal vascular morphology in connection with a novel AIPL1 mutation in Leber's congenital amaurosis.

Authors:  S Heegaard; T Rosenberg; M Preising; J U Prause; T Bek
Journal:  Br J Ophthalmol       Date:  2003-08       Impact factor: 4.638

Review 5.  AAV-mediated gene therapy in mouse models of recessive retinal degeneration.

Authors:  J-J Pang; L Lei; X Dai; W Shi; X Liu; A Dinculescu; J H McDowell
Journal:  Curr Mol Med       Date:  2012-03       Impact factor: 2.222

6.  A novel locus for Leber congenital amaurosis maps to chromosome 6q.

Authors:  S Dharmaraj; Y Li; J M Robitaille; E Silva; D Zhu; T N Mitchell; L P Maltby; A B Baffoe-Bonnie; I H Maumenee
Journal:  Am J Hum Genet       Date:  2000-01       Impact factor: 11.025

7.  Progression of phenotype in Leber's congenital amaurosis with a mutation at the LCA5 locus.

Authors:  M D Mohamed; N C Topping; H Jafri; Y Raashed; M A McKibbin; C F Inglehearn
Journal:  Br J Ophthalmol       Date:  2003-04       Impact factor: 4.638

8.  Autosomal dominant retinal degeneration and bone loss in patients with a 12-bp deletion in the CRX gene.

Authors:  R T Tzekov; Y Liu; M M Sohocki; D J Zack; S P Daiger; J R Heckenlively; D G Birch
Journal:  Invest Ophthalmol Vis Sci       Date:  2001-05       Impact factor: 4.799

9.  Differential expression of photoreceptor-specific genes in the retina of a zebrafish cadherin2 mutant glass onion and zebrafish cadherin4 morphants.

Authors:  Q Liu; R A Frey; S G Babb-Clendenon; B Liu; J Francl; A L Wilson; J A Marrs; D L Stenkamp
Journal:  Exp Eye Res       Date:  2006-10-30       Impact factor: 3.467

10.  Retinal dehydrogenase 12 (RDH12) mutations in leber congenital amaurosis.

Authors:  Isabelle Perrault; Sylvain Hanein; Sylvie Gerber; Fabienne Barbet; Dominique Ducroq; Helene Dollfus; Christian Hamel; Jean-Louis Dufier; Arnold Munnich; Josseline Kaplan; Jean-Michel Rozet
Journal:  Am J Hum Genet       Date:  2004-08-20       Impact factor: 11.025
View more

北京卡尤迪生物科技股份有限公司 © 2022-2023.