Severe retinitis pigmentosa mapped to 4p15 and associated with a novel mutation in the PROM1 gene

[1]  W. Huttner,et al.  Focus on molecules: prominin-1 (CD133). , 2007, Experimental eye research.

[2]  W. Huttner,et al.  Nomenclature of prominin-1 (CD133) splice variants - an update. , 2007, Tissue antigens.

[3]  Xueshan Xiao,et al.  The 208delG mutation in FSCN2 does not associate with retinal degeneration in Chinese individuals. , 2007, Investigative ophthalmology & visual science.

[4]  C. Zuker,et al.  Transforming the architecture of compound eyes , 2006, Nature.

[5]  P. Sieving,et al.  Severe autosomal recessive retinitis pigmentosa maps to chromosome 1p13.3–p21.2 between D1S2896 and D1S457 but outside ABCA4 , 2005, Human Genetics.

[6]  M. Kaiser-Kupfer,et al.  Bietti crystalline corneoretinal dystrophy is caused by mutations in the novel gene CYP4V2. , 2004, American journal of human genetics.

[7]  P. Sieving,et al.  MERTK arginine-844-cysteine in a patient with severe rod-cone dystrophy: loss of mutant protein function in transfected cells. , 2004, Investigative ophthalmology & visual science.

[8]  M. Marmor,et al.  Standard for clinical electroretinography (2004 update) , 2004, Documenta Ophthalmologica.

[9]  D M Hunt,et al.  The genetics of inherited macular dystrophies , 2003, Journal of medical genetics.

[10]  D. Hunt,et al.  An autosomal dominant bull's-eye macular dystrophy (MCDR2) that maps to the short arm of chromosome 4. , 2003, Investigative ophthalmology & visual science.

[11]  O. Sandgren,et al.  Ocular phenotype of bothnia dystrophy, an autosomal recessive retinitis pigmentosa associated with an R234W mutation in the RLBP1 gene. , 2001, Archives of ophthalmology.

[12]  B. J. Klevering,et al.  Phenotypic variations in a family with retinal dystrophy as result of different mutations in the ABCRgene , 1999, The British 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]  M. Hentze,et al.  A Perfect Message RNA Surveillance and Nonsense-Mediated Decay , 1999, Cell.

[15]  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.

[16]  R. Warnke,et al.  A novel five-transmembrane hematopoietic stem cell antigen: isolation, characterization, and molecular cloning. , 1997, Blood.

[17]  J. Kearney,et al.  AC133, a novel marker for human hematopoietic stem and progenitor cells. , 1997, Blood.

[18]  W. Huttner,et al.  Prominin, a novel microvilli-specific polytopic membrane protein of the apical surface of epithelial cells, is targeted to plasmalemmal protrusions of non-epithelial cells. , 1997, Proceedings of the National Academy of Sciences of the United States of America.

[19]  M. Bayés,et al.  A new locus for autosomal recessive retinitis pigmentosa (RP19) maps to 1p13-1p21. , 1997, Genomics.

[20]  A. Bird,et al.  Chromosome 19q cone-rod retinal dystrophy. Ocular phenotype. , 1995, Archives of ophthalmology.

[21]  Eberhart Zrenner,et al.  Standard for clinical electroretinography , 1989, Documenta Ophthalmologica.

[22]  J. Heckenlively,et al.  Clinical findings and common symptoms in retinitis pigmentosa. , 1988, American journal of ophthalmology.

[23]  J. Boughman,et al.  Population genetic studies of retinitis pigmentosa. , 1980, American journal of human genetics.

[24]  G. Marfany,et al.  Mutation of CERKL, a novel human ceramide kinase gene, causes autosomal recessive retinitis pigmentosa (RP26). , 2004, American journal of human genetics.

[25]  G. Jensen,et al.  Prevalence and causes of visual impairment and blindness among 9980 Scandinavian adults: the Copenhagen City Eye Study. , 2004, Ophthalmology.

[26]  W. Huttner,et al.  A frameshift mutation in prominin (mouse)-like 1 causes human retinal degeneration. , 2000, Human molecular genetics.

[27]  J D Mollon,et al.  Autosomal dominant cone-rod retinal dystrophy (CORD6) from heterozygous mutation of GUCY2D, which encodes retinal guanylate cyclase. , 2000, Ophthalmology.

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

[29]  K. Gehrs,et al.  Clinical study of a large family with autosomal dominant progressive cone degeneration. , 1996, American journal of ophthalmology-glaucoma.