Mutational scanning of the ABCR gene with double-gradient denaturing-gradient gel electrophoresis (DG-DGGE) in Italian Stargardt disease patients

[1]  M. Ferrari,et al.  Double-gradient denaturing gradient gel electrophoresis assay for identification of L-ferritin iron-responsive element mutations responsible for hereditary hyperferritinemia-cataract syndrome: identification of the new mutation C14G. , 2001, Clinical chemistry.

[2]  B. Lorenz,et al.  A comprehensive survey of sequence variation in the ABCA4 (ABCR) gene in Stargardt disease and age-related macular degeneration. , 2000, American journal of human genetics.

[3]  R. Allikmets.  Simple and complex ABCR: genetic predisposition to retinal disease. , 2000, American journal of human genetics.

[4]  R. Allikmets,et al.  Further evidence for an association of ABCR alleles with age-related macular degeneration. The International ABCR Screening Consortium. , 2000, American journal of human genetics.

[5]  M. D'urso,et al.  New ABCR mutations and clinical phenotype in Italian patients with Stargardt disease. , 2000, Investigative ophthalmology & visual science.

[6]  A. Munnich,et al.  ABCR gene analysis in familial exudative age-related macular degeneration. , 2000, Investigative ophthalmology & visual science.

[7]  A. Bird,et al.  An analysis of ABCR mutations in British patients with recessive retinal dystrophies. , 2000, Investigative ophthalmology & visual science.

[8]  M. Chiang,et al.  A novel mutation in the ABCR gene in four patients with autosomal recessive Stargardt disease. , 1999, American journal of ophthalmology.

[9]  A. Bird,et al.  Intrafamilial variation of phenotype in Stargardt macular dystrophy-Fundus flavimaculatus. , 1999, Investigative ophthalmology & visual science.

[10]  A. Hutchinson,et al.  The ABCR gene in recessive and dominant Stargardt diseases: a genetic pathway in macular degeneration. , 1999, Genomics.

[11]  J. Gilbert,et al.  Analysis of the Stargardt disease gene (ABCR) in age-related macular degeneration. , 1999, Ophthalmology.

[12]  A. Munnich,et al.  Age-related macular degeneration in grandparents of patients with Stargardt disease: genetic study. , 1999, American journal of ophthalmology.

[13]  D. Zack,et al.  A new locus for autosomal dominant stargardt-like disease maps to chromosome 4. , 1999, American journal of human genetics.

[14]  G. Fishman,et al.  Variation of clinical expression in patients with Stargardt dystrophy and sequence variations in the ABCR gene. , 1999, Archives of ophthalmology.

[15]  K Rohrschneider,et al.  The 2588G-->C mutation in the ABCR gene is a mild frequent founder mutation in the Western European population and allows the classification of ABCR mutations in patients with Stargardt disease. , 1999, American journal of human genetics.

[16]  J. Lupski,et al.  Genotype/Phenotype analysis of a photoreceptor-specific ATP-binding cassette transporter gene, ABCR, in Stargardt disease. , 1999, American journal of human genetics.

[17]  F. Zunino,et al.  Validation of double gradient denaturing gradient gel electrophoresis through multigenic retrospective analysis. , 1999, Clinical chemistry.

[18]  Arnold Munnich,et al.  Spectrum of ABCR gene mutations in autosomal recessive macular dystrophies , 1998, European Journal of Human Genetics.

[19]  K Rohrschneider,et al.  Autosomal recessive retinitis pigmentosa and cone-rod dystrophy caused by splice site mutations in the Stargardt's disease gene ABCR. , 1998, Human molecular genetics.

[20]  A Blankenagel,et al.  Complete exon-intron structure of the retina-specific ATP binding transporter gene (ABCR) allows the identification of novel mutations underlying Stargardt disease. , 1998, Genomics.

[21]  M. Dean,et al.  Retinitis pigmentosa caused by a homozygous mutation in the Stargardt disease gene ABCR , 1998, Nature Genetics.

[22]  Robert S. Molday,et al.  Mapping of the rod photoreceptor ABC transporter (ABCR) to 1p21–p22.1 and identification of novel mutations in Stargardt’s disease , 1998, Human Genetics.

[23]  A. Piazza,et al.  Genetic history of cystic fibrosis mutations in Italy. I. Regional distribution , 1997, Annals of human genetics.

[24]  G. Travis,et al.  The photoreceptor rim protein is an ABC transporter encoded by the gene for recessive Stargardt's disease (ABCR) , 1997, FEBS letters.

[25]  J. Lupski,et al.  A photoreceptor cell-specific ATP-binding transporter gene (ABCR) is mutated in recessive Starqardt macular dystrophy , 1997, Nature Genetics.

[26]  M. Ferrari,et al.  Double-gradient DGGE for optimized detection of DNA point mutations. , 1997, BioTechniques.

[27]  H. Nielsen,et al.  Single‐step DGGE‐based mutation scanning of the p53 gene: Application to genetic diagnosis of colorectal cancer , 1997, Human mutation.

[28]  J. Lupski,et al.  Mutation of the Stargardt disease gene (ABCR) in age-related macular degeneration. , 1997, Science.

[29]  Milan Macek,et al.  Sensitivity of the denaturing gradient gel electrophoresis technique in detection of known mutations and novel Asian mutations in the CFTR gene , 1997, Human mutation.

[30]  L. Donoso,et al.  Genetic and molecular studies of macular dystrophies: recent developments. , 1995, Survey of ophthalmology.

[31]  J. Weissenbach,et al.  A gene for late-onset fundus flavimaculatus with macular dystrophy maps to chromosome 1p13. , 1995, American journal of human genetics.

[32]  V. Sheffield,et al.  Clinical features of a Stargardt-like dominant progressive macular dystrophy with genetic linkage to chromosome 6q. , 1994, Archives of ophthalmology.

[33]  J. Seidman,et al.  A dominant Stargardt's macular dystrophy locus maps to chromosome 13q34. , 1994, Archives of ophthalmology.

[34]  A. Munnich,et al.  A gene for Stargardt's disease (fundus flavimaculatus) maps to the short arm of chromosome 1 , 1993, Nature Genetics.

[35]  J. Mattick,et al.  'Touchdown' PCR to circumvent spurious priming during gene amplification. , 1991, Nucleic acids research.

[36]  L. Lerman,et al.  Computational simulation of DNA melting and its application to denaturing gradient gel electrophoresis. , 1987, Methods in enzymology.

[37]  T. Aaberg.  Stargardt's disease and fundus flavimaculatus: evaluation of morphologic progression and intrafamilial co-existence. , 1986, Transactions of the American Ophthalmological Society.

[38]  Stephen M. Mount,et al.  A catalogue of splice junction sequences. , 1982, Nucleic acids research.

[39]  J. Gass,et al.  Fundus flavimaculatus and Stargardt's disease. , 1976, American journal of ophthalmology.

[40]  A Scialfa,et al.  [Fundus flavimaculatus]. , 1964, Giornale italiano di oftalmologia.