Literature DB >> 10927016

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

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Abstract

Entities:  

Year:  2000        PMID： 10927016      PMCID： PMC2796558          DOI： 10.1016/s0002-9394(00)00517-1

Source DB:  PubMed          Journal:  Am J Ophthalmol        ISSN： 0002-9394            Impact factor:   5.258


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  11 in total

1.  Clinical and genetic heterogeneity in retinitis pigmentosa.

Authors:  J Kaplan; D Bonneau; J Frézal; A Munnich; J L Dufier
Journal:  Hum Genet       Date:  1990-10       Impact factor: 4.132

2.  Mutations in RPE65 cause Leber's congenital amaurosis.

Authors:  F Marlhens; C Bareil; J M Griffoin; E Zrenner; P Amalric; C Eliaou; S Y Liu; E Harris; T M Redmond; B Arnaud; M Claustres; C P Hamel
Journal:  Nat Genet       Date:  1997-10       Impact factor: 38.330

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

Authors:  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
Journal:  Nat Genet       Date:  1998-04       Impact factor: 38.330

4.  Localization of retina/pineal-expressed sequences: identification of novel candidate genes for inherited retinal disorders.

Authors:  M M Sohocki; K A Malone; L S Sullivan; S P Daiger
Journal:  Genomics       Date:  1999-05-15       Impact factor: 5.736

5.  A novel locus for Leber congenital amaurosis (LCA4) with anterior keratoconus mapping to chromosome 17p13.

Authors:  A Hameed; S Khaliq; M Ismail; K Anwar; N D Ebenezer; T Jordan; S Q Mehdi; A M Payne; S S Bhattacharya
Journal:  Invest Ophthalmol Vis Sci       Date:  2000-03       Impact factor: 4.799

6.  A novel cytoplasmic protein that interacts with the Ah receptor, contains tetratricopeptide repeat motifs, and augments the transcriptional response to 2,3,7,8-tetrachlorodibenzo-p-dioxin.

Authors:  Q Ma; J P Whitlock
Journal:  J Biol Chem       Date:  1997-04-04       Impact factor: 5.157

7.  Crx, a novel otx-like homeobox gene, shows photoreceptor-specific expression and regulates photoreceptor differentiation.

Authors:  T Furukawa; E M Morrow; C L Cepko
Journal:  Cell       Date:  1997-11-14       Impact factor: 41.582

8.  Retinal-specific guanylate cyclase gene mutations in Leber's congenital amaurosis.

Authors:  I Perrault; J M Rozet; P Calvas; S Gerber; A Camuzat; H Dollfus; S Châtelin; E Souied; I Ghazi; C Leowski; M Bonnemaison; D Le Paslier; J Frézal; J L Dufier; S Pittler; A Munnich; J Kaplan
Journal:  Nat Genet       Date:  1996-12       Impact factor: 38.330

9.  Classification of congenital and early onset retinitis pigmentosa.

Authors:  S G Foxman; J R Heckenlively; J B Bateman; J D Wirtschafter
Journal:  Arch Ophthalmol       Date:  1985-10

10.  A new locus for autosomal dominant retinitis pigmentosa on the short arm of chromosome 17.

Authors:  J Greenberg; R Goliath; P Beighton; R Ramesar
Journal:  Hum Mol Genet       Date:  1994-06       Impact factor: 6.150
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  1 in total

1.  Potential involvement of more than one locus in trait manifestation for individuals with Leber congenital amaurosis.

Authors:  Wojciech Wiszniewski; Richard Alan Lewis; David W Stockton; Jianlan Peng; Graeme Mardon; Rui Chen; James R Lupski
Journal:  Hum Genet       Date:  2010-12-14       Impact factor: 4.132
  1 in total

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