Literature DB >> 15614538

Age matters--thoughts on a grading system for ABCA4 mutations.

Birgit Lorenz, Markus N Preising.   

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Year:  2004        PMID： 15614538     DOI： 10.1007/s00417-004-1078-5

Source DB:  PubMed          Journal:  Graefes Arch Clin Exp Ophthalmol        ISSN： 0721-832X            Impact factor:   3.117


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  16 in total

1.  Retinitis pigmentosa caused by a homozygous mutation in the Stargardt disease gene ABCR.

Authors:  A Martínez-Mir; E Paloma; R Allikmets; C Ayuso; T del Rio; M Dean; L Vilageliu; R Gonzàlez-Duarte; S Balcells
Journal:  Nat Genet       Date:  1998-01       Impact factor: 38.330

2.  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

3.  Null missense ABCR (ABCA4) mutations in a family with stargardt disease and retinitis pigmentosa.

Authors:  N F Shroyer; R A Lewis; A N Yatsenko; J R Lupski
Journal:  Invest Ophthalmol Vis Sci       Date:  2001-11       Impact factor: 4.799

4.  Mutations in ABCR (ABCA4) in patients with Stargardt macular degeneration or cone-rod degeneration.

Authors:  C E Briggs; D Rucinski; P J Rosenfeld; T Hirose; E L Berson; T P Dryja
Journal:  Invest Ophthalmol Vis Sci       Date:  2001-09       Impact factor: 4.799

5.  Microarray-based mutation analysis of the ABCA4 (ABCR) gene in autosomal recessive cone-rod dystrophy and retinitis pigmentosa.

Authors:  B Jeroen Klevering; Suzanne Yzer; Klaus Rohrschneider; Marijke Zonneveld; Rando Allikmets; L Ingeborgh van den Born; Alessandra Maugeri; Carel B Hoyng; Frans P M Cremers
Journal:  Eur J Hum Genet       Date:  2004-12       Impact factor: 4.246

6.  Dark adaptation in age-related macular degeneration: relationship to the fellow eye.

Authors:  Robert Haimovici; Sarah L Owens; Frederick W Fitzke; Alan C Bird
Journal:  Graefes Arch Clin Exp Ophthalmol       Date:  2002-02       Impact factor: 3.117

7.  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

8.  Genotyping microarray (gene chip) for the ABCR (ABCA4) gene.

Authors:  K Jaakson; J Zernant; M Külm; A Hutchinson; N Tonisson; D Glavac; M Ravnik-Glavac; M Hawlina; M R Meltzer; R C Caruso; F Testa; A Maugeri; C B Hoyng; P Gouras; F Simonelli; R A Lewis; J R Lupski; F P M Cremers; R Allikmets
Journal:  Hum Mutat       Date:  2003-11       Impact factor: 4.878

9.  [Mutations in the ABCA4 gene in a family with Stargardt's disease and retinitis pigmentosa (STGD1/RP19)].

Authors:  Günther Rudolph; Petros Kalpadakis; Christos Haritoglou; Andrea Rivera; Bernhard H F Weber
Journal:  Klin Monbl Augenheilkd       Date:  2002-08       Impact factor: 0.700

10.  Three families displaying the combination of Stargardt's disease with cone-rod dystrophy or retinitis pigmentosa.

Authors:  B Jeroen Klevering; Alessandra Maugeri; Anja Wagner; Sioe Lie Go; Carolien Vink; Frans P M Cremers; Carel B Hoyng
Journal:  Ophthalmology       Date:  2004-03       Impact factor: 12.079
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  3 in total

1.  Clinical polymorphism of stargardt disease in a large consanguineous tunisian family; implications for nosology.

Authors:  Leila El Matri; Farah Ouechtati; Ahmed Chebil; Leila Largueche; Sonia Abdelhak
Journal:  J Ophthalmic Vis Res       Date:  2013-10

2.  Molecular analysis of the ABCA4 gene for reliable detection of allelic variations in Spanish patients: identification of 21 novel variants.

Authors:  J Aguirre-Lamban; R Riveiro-Alvarez; S Maia-Lopes; D Cantalapiedra; E Vallespin; A Avila-Fernandez; C Villaverde-Montero; M J Trujillo-Tiebas; C Ramos; C Ayuso
Journal:  Br J Ophthalmol       Date:  2008-11-21       Impact factor: 4.638

3.  ABCA4 mutations in Portuguese Stargardt patients: identification of new mutations and their phenotypic analysis.

Authors:  Susana Maia-Lopes; Jana Aguirre-Lamban; Miguel Castelo-Branco; Rosa Riveiro-Alvarez; Carmen Ayuso; Eduardo Duarte Silva
Journal:  Mol Vis       Date:  2009-03-25       Impact factor: 2.367
  3 in total

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