Literature DB >> 10631161

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

S Dharmaraj, Y Li, J M Robitaille, E Silva, D Zhu, T N Mitchell, L P Maltby, A B Baffoe-Bonnie, I H Maumenee.   

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Year:  2000        PMID： 10631161      PMCID： PMC1288337          DOI： 10.1086/302719

Source DB:  PubMed          Journal:  Am J Hum Genet        ISSN： 0002-9297            Impact factor:   11.025


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  45 in total

1.  Complete exon-intron structure of the retina-specific ATP binding transporter gene (ABCR) allows the identification of novel mutations underlying Stargardt disease.

Authors:  S Gerber; J M Rozet; T J van de Pol; C B Hoyng; A Munnich; A Blankenagel; J Kaplan; F P Cremers
Journal:  Genomics       Date:  1998-02-15       Impact factor: 5.736

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.  Parametric and nonparametric linkage analysis: a unified multipoint approach.

Authors:  L Kruglyak; M J Daly; M P Reeve-Daly; E S Lander
Journal:  Am J Hum Genet       Date:  1996-06       Impact factor: 11.025

4.  Autosomal recessive retinitis pigmentosa and cone-rod dystrophy caused by splice site mutations in the Stargardt's disease gene ABCR.

Authors:  F P Cremers; D J van de Pol; M van Driel; A I den Hollander; F J van Haren; N V Knoers; N Tijmes; A A Bergen; K Rohrschneider; A Blankenagel; A J Pinckers; A F Deutman; C B Hoyng
Journal:  Hum Mol Genet       Date:  1998-03       Impact factor: 6.150

5.  Mutation of the Stargardt disease gene (ABCR) in age-related macular degeneration.

Authors:  R Allikmets; N F Shroyer; N Singh; J M Seddon; R A Lewis; P S Bernstein; A Peiffer; N A Zabriskie; Y Li; A Hutchinson; M Dean; J R Lupski; M Leppert
Journal:  Science       Date:  1997-09-19       Impact factor: 47.728

6.  A comprehensive genetic map of the human genome based on 5,264 microsatellites.

Authors:  C Dib; S Fauré; C Fizames; D Samson; N Drouot; A Vignal; P Millasseau; S Marc; J Hazan; E Seboun; M Lathrop; G Gyapay; J Morissette; J Weissenbach
Journal:  Nature       Date:  1996-03-14       Impact factor: 49.962

7.  A gene for Stargardt's disease (fundus flavimaculatus) maps to the short arm of chromosome 1.

Authors:  J Kaplan; S Gerber; D Larget-Piet; J M Rozet; H Dollfus; J L Dufier; S Odent; A Postel-Vinay; N Janin; M L Briard
Journal:  Nat Genet       Date:  1993-11       Impact factor: 38.330

8.  Mutations in the RPE65 gene in patients with autosomal recessive retinitis pigmentosa or leber congenital amaurosis.

Authors:  H Morimura; G A Fishman; S A Grover; A B Fulton; E L Berson; T P Dryja
Journal:  Proc Natl Acad Sci U S A       Date:  1998-03-17       Impact factor: 11.205

9.  Evidence of genetic heterogeneity of Leber's congenital amaurosis (LCA) and mapping of LCA1 to chromosome 17p13.

Authors:  A Camuzat; J M Rozet; H Dollfus; S Gerber; I Perrault; J Weissenbach; A Munnich; J Kaplan
Journal:  Hum Genet       Date:  1996-06       Impact factor: 4.132

10.  Strategies for multilocus linkage analysis in humans.

Authors:  G M Lathrop; J M Lalouel; C Julier; J Ott
Journal:  Proc Natl Acad Sci U S A       Date:  1984-06       Impact factor: 11.205
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  20 in total

1.  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

2.  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

3.  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

4.  Spotlight on childhood blindness.

Authors:  José-Alain Sahel
Journal:  J Clin Invest       Date:  2011-05-23       Impact factor: 14.808

Review 5.  Leber congenital amaurosis, from darkness to light: An ode to Irene Maumenee.

Authors:  Razek Georges Coussa; Irma Lopez Solache; Robert K Koenekoop
Journal:  Ophthalmic Genet       Date:  2017-01-17       Impact factor: 1.803

6.  Identification of a mutation in CNNM4 by whole exome sequencing in an Amish family and functional link between CNNM4 and IQCB1.

Authors:  Sisi Li; Quansheng Xi; Xiaoyu Zhang; Dong Yu; Lin Li; Zhenyang Jiang; Qiuyun Chen; Qing K Wang; Elias I Traboulsi
Journal:  Mol Genet Genomics       Date:  2018-01-10       Impact factor: 3.291

7.  Longitudinal and cross-sectional study of patients with early-onset severe retinal dystrophy associated with RPE65 mutations.

Authors:  Karina Paunescu; Bettina Wabbels; Markus N Preising; Birgit Lorenz
Journal:  Graefes Arch Clin Exp Ophthalmol       Date:  2004-11-24       Impact factor: 3.117

8.  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

9.  Late-onset autosomal dominant macular dystrophy with choroidal neovascularization and nonexudative maculopathy associated with mutation in the RDS gene.

Authors:  Shahrokh C Khani; Athanasios J Karoukis; Joyce E Young; Rajesh Ambasudhan; Tracy Burch; Richard Stockton; Richard Alan Lewis; Lori S Sullivan; Stephen P Daiger; Elias Reichel; Radha Ayyagari
Journal:  Invest Ophthalmol Vis Sci       Date:  2003-08       Impact factor: 4.799

10.  The human GCOM1 complex gene interacts with the NMDA receptor and internexin-alpha.

Authors:  Raymond S Roginski; Chi W Lau; Phillip P Santoiemma; Sara J Weaver; Peicheng Du; Patricia Soteropoulos; Jay Yang
Journal:  Gene       Date:  2018-01-12       Impact factor: 3.688
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