Literature DB >> 12515255

The ABCA4 gene in autosomal recessive cone-rod dystrophies.

Dominique Ducroq, Jean-Michel Rozet, Sylvie Gerber, Isabelle Perrault, Dabienne Barbet, Sylvain Hanein, Selim Hakiki, Jean-Louis Dufier, Arnold Munnich, Christian Hamel, Josseline Kaplan.   

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Year:  2002        PMID： 12515255      PMCID： PMC378601          DOI： 10.1086/344829

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


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  14 in total

1.  CORD9 a new locus for arCRD: mapping to 8p11, estimation of frequency, evaluation of a candidate gene.

Authors:  M Danciger; J Hendrickson; J Lyon; C Toomes; J C McHale; G A Fishman; C F Inglehearn; S G Jacobson; D B Farber
Journal:  Invest Ophthalmol Vis Sci       Date:  2001-10       Impact factor: 4.799

2.  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

3.  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

4.  Mutations of the retinal specific ATP binding transporter gene (ABCR) in a single family segregating both autosomal recessive retinitis pigmentosa RP19 and Stargardt disease: evidence of clinical heterogeneity at this locus.

Authors:  J M Rozet; S Gerber; I Ghazi; I Perrault; D Ducroq; E Souied; A Cabot; J L Dufier; A Munnich; J Kaplan
Journal:  J Med Genet       Date:  1999-06       Impact factor: 6.318

5.  Phenotypic spectrum of autosomal recessive cone-rod dystrophies caused by mutations in the ABCA4 (ABCR) gene.

Authors:  B Jeroen Klevering; Anita Blankenagel; Alessandra Maugeri; Frans P M Cremers; Carel B Hoyng; Klaus Rohrschneider
Journal:  Invest Ophthalmol Vis Sci       Date:  2002-06       Impact factor: 4.799

6.  A photoreceptor cell-specific ATP-binding transporter gene (ABCR) is mutated in recessive Stargardt macular dystrophy.

Authors:  R Allikmets; N Singh; H Sun; N F Shroyer; A Hutchinson; A Chidambaram; B Gerrard; L Baird; D Stauffer; A Peiffer; A Rattner; P Smallwood; Y Li; K L Anderson; R A Lewis; J Nathans; M Leppert; M Dean; J R Lupski
Journal:  Nat Genet       Date:  1997-03       Impact factor: 38.330

7.  A comprehensive survey of sequence variation in the ABCA4 (ABCR) gene in Stargardt disease and age-related macular degeneration.

Authors:  A Rivera; K White; H Stöhr; K Steiner; N Hemmrich; T Grimm; B Jurklies; B Lorenz; H P Scholl; E Apfelstedt-Sylla; B H Weber
Journal:  Am J Hum Genet       Date:  2000-08-24       Impact factor: 11.025

8.  A new locus for autosomal recessive retinitis pigmentosa (RP19) maps to 1p13-1p21.

Authors:  A Martínez-Mir; M Bayés; L Vilageliu; D Grinberg; C Ayuso; T del Río; B García-Sandoval; E Bussaglia; M Baiget; R Gonzàlez-Duarte; S Balcells
Journal:  Genomics       Date:  1997-02-15       Impact factor: 5.736

9.  Spectrum of ABCR gene mutations in autosomal recessive macular dystrophies.

Authors:  J M Rozet; S Gerber; E Souied; I Perrault; S Châtelin; I Ghazi; C Leowski; J L Dufier; A Munnich; J Kaplan
Journal:  Eur J Hum Genet       Date:  1998 May-Jun       Impact factor: 4.246

10.  Mutational hot spot within a new RPGR exon in X-linked retinitis pigmentosa.

Authors:  R Vervoort; A Lennon; A C Bird; B Tulloch; R Axton; M G Miano; A Meindl; T Meitinger; A Ciccodicola; A F Wright
Journal:  Nat Genet       Date:  2000-08       Impact factor: 38.330
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  19 in total

1.  The spectrum of retinal phenotypes caused by mutations in the ABCA4 gene.

Authors:  B Jeroen Klevering; August F Deutman; Alessandra Maugeri; Frans P M Cremers; Carel B Hoyng
Journal:  Graefes Arch Clin Exp Ophthalmol       Date:  2004-12-22       Impact factor: 3.117

2.  Outcome of ABCA4 microarray screening in routine clinical practice.

Authors:  Paul J G Ernest; Camiel J F Boon; B Jeroen Klevering; Lies H Hoefsloot; Carel B Hoyng
Journal:  Mol Vis       Date:  2009-12-20       Impact factor: 2.367

3.  Clinical Utility Gene Card for: autosomal recessive cone-rod dystrophy.

Authors:  Maria Pia Manitto; Susanne Roosing; Camiel J F Boon; Eric H Souied; Francesco Bandello; Giuseppe Querques
Journal:  Eur J Hum Genet       Date:  2015-04-15       Impact factor: 4.246

4.  The Rapid-Onset Chorioretinopathy Phenotype of ABCA4 Disease.

Authors:  Koji Tanaka; Winston Lee; Jana Zernant; Kaspar Schuerch; Lyam Ciccone; Stephen H Tsang; Janet R Sparrow; Rando Allikmets
Journal:  Ophthalmology       Date:  2017-09-22       Impact factor: 12.079

Review 5.  Structures and biogenetic analysis of lipofuscin bis-retinoids.

Authors:  Ya-lin Wu; Jie Li; Ke Yao
Journal:  J Zhejiang Univ Sci B       Date:  2013-09       Impact factor: 3.066

6.  Homozygosity mapping in patients with cone-rod dystrophy: novel mutations and clinical characterizations.

Authors:  Karin W Littink; Robert K Koenekoop; L Ingeborgh van den Born; Rob W J Collin; Luminita Moruz; Joris A Veltman; Susanne Roosing; Marijke N Zonneveld; Amer Omar; Mahshad Darvish; Irma Lopez; Hester Y Kroes; Maria M van Genderen; Carel B Hoyng; Klaus Rohrschneider; Mary J van Schooneveld; Frans P M Cremers; Anneke I den Hollander
Journal:  Invest Ophthalmol Vis Sci       Date:  2010-06-16       Impact factor: 4.799

7.  ABCA4 gene analysis in patients with autosomal recessive cone and cone rod dystrophies.

Authors:  Veronique B D Kitiratschky; Tanja Grau; Antje Bernd; Eberhart Zrenner; Herbert Jägle; Agnes B Renner; Ulrich Kellner; Günther Rudolph; Samuel G Jacobson; Artur V Cideciyan; Simone Schaich; Susanne Kohl; Bernd Wissinger
Journal:  Eur J Hum Genet       Date:  2008-02-20       Impact factor: 4.246

8.  Peripapillary retinal nerve fiber layer thinning in patients with autosomal recessive cone-rod dystrophy.

Authors:  Sirichai Pasadhika; Gerald A Fishman; Rando Allikmets; Edwin M Stone
Journal:  Am J Ophthalmol       Date:  2009-05-05       Impact factor: 5.258

9.  Host genetic and epigenetic factors in toxoplasmosis.

Authors:  Sarra E Jamieson; Heather Cordell; Eskild Petersen; Rima McLeod; Ruth E Gilbert; Jenefer M Blackwell
Journal:  Mem Inst Oswaldo Cruz       Date:  2009-03       Impact factor: 2.743

10.  Loss of the metalloprotease ADAM9 leads to cone-rod dystrophy in humans and retinal degeneration in mice.

Authors:  David A Parry; Carmel Toomes; Lina Bida; Michael Danciger; Katherine V Towns; Martin McKibbin; Samuel G Jacobson; Clare V Logan; Manir Ali; Jacquelyn Bond; Rebecca Chance; Steven Swendeman; Lauren L Daniele; Kelly Springell; Matthew Adams; Colin A Johnson; Adam P Booth; Hussain Jafri; Yasmin Rashid; Eyal Banin; Tim M Strom; Debora B Farber; Dror Sharon; Carl P Blobel; Edward N Pugh; Eric A Pierce; Chris F Inglehearn
Journal:  Am J Hum Genet       Date:  2009-04-30       Impact factor: 11.025
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