Homozygosity mapping reveals null mutations in FAM161A as a cause of autosomal-recessive retinitis pigmentosa.

[1]  I. Chowers,et al.  Novel null mutations in the EYS gene are a frequent cause of autosomal recessive retinitis pigmentosa in the Israeli population. , 2010, Investigative ophthalmology & visual science.

[2]  S. Bhattacharya,et al.  Identification of novel mutations in the ortholog of Drosophila eyes shut gene (EYS) causing autosomal recessive retinitis pigmentosa. , 2010, Investigative ophthalmology & visual science.

[3]  B. J. Klevering,et al.  Mutations in C2ORF71 cause autosomal-recessive retinitis pigmentosa. , 2010, American journal of human genetics.

[4]  J. Sahel,et al.  EYS is a major gene for rod‐cone dystrophies in France , 2010, Human mutation.

[5]  Silvio Alessandro Di Gioia,et al.  Ultra high throughput sequencing excludes MDH1 as candidate gene for RP28-linked retinitis pigmentosa , 2009, Molecular vision.

[6]  T. L. McGee,et al.  A homozygous missense mutation in the IRBP gene (RBP3) associated with autosomal recessive retinitis pigmentosa. , 2009, Investigative ophthalmology & visual science.

[7]  J. Lupski,et al.  Mutations in SPATA7 cause Leber congenital amaurosis and juvenile retinitis pigmentosa. , 2009, American journal of human genetics.

[8]  D. Sharon,et al.  The spectrum of retinal diseases caused by NR2E3 mutations in Israeli and Palestinian patients. , 2009, Archives of ophthalmology.

[9]  B. J. Klevering,et al.  Identification of a 2 Mb human ortholog of Drosophila eyes shut/spacemaker that is mutated in patients with retinitis pigmentosa. , 2008, American journal of human genetics.

[10]  D. Hunt,et al.  Phenotypic variation in enhanced S-cone syndrome. , 2008, Investigative ophthalmology & visual science.

[11]  D. Sharon,et al.  A common founder mutation of CERKL underlies autosomal recessive retinal degeneration with early macular involvement among Yemenite Jews. , 2007, Investigative ophthalmology & visual science.

[12]  George P Patrinos,et al.  Documentation of inherited disorders and mutation frequencies in the different religious communities in Israel in the Israeli National Genetic Database , 2007, Human mutation.

[13]  D. Sharon,et al.  Homozygosity for a novel ABCA4 founder splicing mutation is associated with progressive and severe Stargardt-like disease. , 2007, Investigative ophthalmology & visual science.

[14]  Dyonne T Hartong,et al.  Retinitis pigmentosa , 2006, The Lancet.

[15]  T. Meitinger,et al.  Mutations in the CEP290 (NPHP6) gene are a frequent cause of Leber congenital amaurosis. , 2006, American journal of human genetics.

[16]  H. Lehrach,et al.  A Human Protein-Protein Interaction Network: A Resource for Annotating the Proteome , 2005, Cell.

[17]  L. Ohno-Machado,et al.  Genomic Analysis of Mouse Retinal Development , 2004, PLoS biology.

[18]  S. Blanton,et al.  Confirmation of linkage and refinement of the RP28 locus for autosomal recessive retinitis pigmentosa on chromosome 2p14-p15 in an Indian family. , 2004, Molecular vision.

[19]  R. Desnick,et al.  Genetic homogeneity and phenotypic variability among Ashkenazi Jews with Usher syndrome type III , 2003, Journal of medical genetics.

[20]  R. Lucas,et al.  Temporal and spatial expression patterns of the CRX transcription factor and its downstream targets. Critical differences during human and mouse eye development. , 2001, Human molecular genetics.

[21]  A. Munnich,et al.  Molecular basis of mendelian disorders among Jews. , 2000, Molecular genetics and metabolism.

[22]  C. Srikumari,et al.  Autosomal recessive retinitis pigmentosa locusRP28 maps between D2S1337 and D2S286 on chromosome 2p11-p15 in an Indian family , 1999, Journal of medical genetics.

[23]  C. Cepko,et al.  Crx, a Novel otx-like Homeobox Gene, Shows Photoreceptor-Specific Expression and Regulates Photoreceptor Differentiation , 1997, Cell.

[24]  J. Zlotogora.  Autosomal recessive diseases among Palestinian Arabs. , 1997, Journal of medical genetics.

[25]  V. Wallace,et al.  Expression of Sonic hedgehog and its putative role as a precursor cell mitogen in the developing mouse retina. , 1997, Development.

[26]  David W. Yandell,et al.  A point mutation of the rhodopsin gene in one form of retinitis pigmentosa , 1990, Nature.

[27]  S. Bundey,et al.  A study of retinitis pigmentosa in the city of Birmingham. , 1986, Journal of medical genetics.

[28]  S. Crews,et al.  A study of retinitis pigmentosa in the City of Birmingham. II Clinical and genetic heterogeneity. , 1984, Journal of medical genetics.

[29]  E. Berson,et al.  Prevalence of retinitis pigmentosa in Maine. , 1984, American journal of ophthalmology.

[30]  T. Rosenberg.  Epidemiology of hereditary ocular disorders. , 2003, Developments in ophthalmology.

[31]  S Rozen,et al.  Primer3 on the WWW for general users and for biologist programmers. , 2000, Methods in molecular biology.