BBS 1 Mutations in a Wide Spectrum of Phenotypes Ranging From Nonsyndromic Retinitis Pigmentosa to Bardet-Biedl Syndrome
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B. J. Klevering | E. Zrenner | D. Sharon | F. Cremers | C. Hoyng | E. Baere | S. Banfi | E. Vingolo | B. Wissinger | C. Ayuso | A. Avila-Fernandez | S. Kohl | E. Banin | U. Kellner | L. Mizrahi-Meissonnier | A. I. Hollander | I. Lopez | R. Koenekoop | C. Hamel | B. Leroy | R. Collin | S. Signorini | A. Sénéćhal | A. Estrada-Cuzcano | T. Ravel | I. Sliesoraityte | K. W. Littink | C. Ziviello | A. Bazinet | Ulrich Kellner | Carmen Ayuso | L. Mizrahi‐Meissonnier | A. Hollander | Bart P. Leroy | Susanne Kohl | E. Zrenner | Frans P. M. Cremers | B. Klevering | Sandro Banfi | Alexandre Bazinet | Sabrina Signorini | Christian P. Hamel | Irma Lopez
[1] S. Jacobson,et al. BBS genotype–phenotype assessment of a multiethnic patient cohort calls for a revision of the disease definition , 2011, Human mutation.
[2] A. D. den Hollander,et al. CLRN1 mutations cause nonsyndromic retinitis pigmentosa. , 2011, Ophthalmology.
[3] B. J. Klevering,et al. High-resolution homozygosity mapping is a powerful tool to detect novel mutations causative of autosomal recessive RP in the Dutch population. , 2011, Investigative ophthalmology & visual science.
[4] J. Mandel,et al. Molecular diagnosis reveals genetic heterogeneity for the overlapping MKKS and BBS phenotypes. , 2011, European journal of medical genetics.
[5] S. Jacobson,et al. IQCB1 mutations in patients with leber congenital amaurosis. , 2011, Investigative ophthalmology & visual science.
[6] V. Sheffield,et al. Functional analysis of BBS3 A89V that results in non-syndromic retinal degeneration , 2011, Human molecular genetics.
[7] Colin A. Johnson,et al. Planar Cell Polarity Acts Through Septins to Control Collective Cell Movement and Ciliogenesis , 2010, Science.
[8] W. Berger,et al. The molecular basis of human retinal and vitreoretinal diseases , 2010, Progress in Retinal and Eye Research.
[9] C. Klaver,et al. Mutations in IMPG2, encoding interphotoreceptor matrix proteoglycan 2, cause autosomal-recessive retinitis pigmentosa. , 2010, American journal of human genetics.
[10] S. Moon,et al. Hereditary and Clinical Features of Retinitis Pigmentosa in Koreans , 2010, Journal of Korean medical science.
[11] Kang Zhang,et al. A splice-site mutation in a retina-specific exon of BBS8 causes nonsyndromic retinitis pigmentosa. , 2010, American journal of human genetics.
[12] G. Fishman,et al. Mutations in chaperonin-like BBS genes are a major contributor to disease development in a multiethnic Bardet–Biedl syndrome patient population , 2010, Journal of Medical Genetics.
[13] P. Bork,et al. A method and server for predicting damaging missense mutations , 2010, Nature Methods.
[14] G. Nürnberg,et al. A Novel Familial BBS12 Mutation Associated with a Mild Phenotype: Implications for Clinical and Molecular Diagnostic Strategies , 2010, Molecular Syndromology.
[15] H. Khalak,et al. Molecular characterization of retinitis pigmentosa in Saudi Arabia , 2009, Molecular vision.
[16] F. Alkuraya,et al. Clinical and molecular characterisation of Bardet–Biedl syndrome in consanguineous populations: the power of homozygosity mapping , 2009, Journal of medical genetics.
[17] Colin A. Johnson,et al. A common allele in RPGRIP1L is a modifier of retinal degeneration in ciliopathies , 2009, Nature Genetics.
[18] Nicholas Katsanis,et al. Mechanistic insights into Bardet-Biedl syndrome, a model ciliopathy. , 2009, The Journal of clinical investigation.
[19] M. Bach,et al. ISCEV Standard for full-field clinical electroretinography (2008 update) , 2009, Documenta Ophthalmologica.
[20] 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.
[21] T. Rosenberg,et al. A novel founder BBS1 mutation explains a unique high prevalence of Bardet–Biedl syndrome in the Faroe Islands , 2008, British Journal of Ophthalmology.
[22] I. C. Lloyd,et al. Bardet-Biedl Syndrome: An Atypical Phenotype in Brothers with a Proven BBS1 Mutation , 2008, Ophthalmic genetics.
[23] Edward N Pugh,et al. The Proteome of the Mouse Photoreceptor Sensory Cilium Complex*S , 2007, Molecular & Cellular Proteomics.
[24] V. Sheffield,et al. A Core Complex of BBS Proteins Cooperates with the GTPase Rab8 to Promote Ciliary Membrane Biogenesis , 2007, Cell.
[25] S. Daiger,et al. Perspective on genes and mutations causing retinitis pigmentosa. , 2007, Archives of ophthalmology.
[26] A. J. Roman,et al. Retinal disease expression in Bardet-Biedl syndrome-1 (BBS1) is a spectrum from maculopathy to retina-wide degeneration. , 2006, Investigative ophthalmology & visual science.
[27] Nicholas Katsanis,et al. The ciliopathies: an emerging class of human genetic disorders. , 2006, Annual review of genomics and human genetics.
[28] T. Meitinger,et al. Mutations in the CEP290 (NPHP6) gene are a frequent cause of Leber congenital amaurosis. , 2006, American journal of human genetics.
[29] H. Kallel,et al. Screening of the eight BBS genes in Tunisian families: no evidence of triallelism. , 2006, Investigative ophthalmology & visual science.
[30] R. Lewis,et al. BBS10 encodes a vertebrate-specific chaperonin-like protein and is a major BBS locus , 2006, Nature Genetics.
[31] S. Fisher,et al. Dissection of epistasis in oligogenic Bardet–Biedl syndrome , 2006, Nature.
[32] M. Cossée,et al. Testing for triallelism: analysis of six BBS genes in a Bardet–Biedl syndrome family cohort , 2005, European Journal of Human Genetics.
[33] Bethan E. Hoskins,et al. Heterozygous mutations in BBS1, BBS2 and BBS6 have a potential epistatic effect on Bardet-Biedl patients with two mutations at a second BBS locus. , 2003, Human molecular genetics.
[34] Bethan E. Hoskins,et al. Genetic interaction of BBS1 mutations with alleles at other BBS loci can result in non-Mendelian Bardet-Biedl syndrome. , 2003, American journal of human genetics.
[35] V. Sheffield,et al. Evaluation of complex inheritance involving the most common Bardet-Biedl syndrome locus (BBS1). , 2003, American journal of human genetics.
[36] Val C. Sheffield,et al. Identification of the gene (BBS1) most commonly involved in Bardet-Biedl syndrome, a complex human obesity syndrome , 2002, Nature Genetics.
[37] Marianne Haim,et al. Epidemiology of retinitis pigmentosa in Denmark. , 2002, Acta ophthalmologica Scandinavica. Supplement.
[38] Bethan E. Hoskins,et al. Triallelic Inheritance in Bardet-Biedl Syndrome, a Mendelian Recessive Disorder , 2001, Science.
[39] S. Henikoff,et al. Predicting deleterious amino acid substitutions. , 2001, Genome research.
[40] P. Beales,et al. New criteria for improved diagnosis of Bardet-Biedl syndrome: results of a population survey , 1999, Journal of medical genetics.
[41] N. Tommerup,et al. Intrafamilial variation of the phenotype in Bardet–Biedl syndrome , 1997, The British journal of ophthalmology.
[42] M Jay,et al. Linkage mapping in 29 Bardet-Biedl syndrome families confirms loci in chromosomal regions 11q13, 15q22.3-q23, and 16q21. , 1997, Genomics.
[43] V. Sheffield,et al. Phenotypic differences among patients with Bardet-Biedl syndrome linked to three different chromosome loci. , 1995, American journal of medical genetics.
[44] A. Bird,et al. Retinitis pigmentosa families showing apparent X linked inheritance but unlinked to the RP2 or RP3 loci. , 1994, Journal of medical genetics.
[45] A. Teebi. Autosomal recessive disorders among Arabs: an overview from Kuwait. , 1994, Journal of medical genetics.
[46] M. Haim. Prevalence of retinitis pigmentosa and allied disorders in Denmark , 1992, Acta ophthalmologica.
[47] T. Farag,et al. Bardet‐Biedl and Laurence‐Moon syndromes in a mixed Arab population , 1988, Clinical genetics.
[48] D. Klein,et al. The syndrome of Laurence-Moon-Bardet-Biedl and allied diseases in Switzerland. Clinical, genetic and epidemiological studies. , 1969, Journal of the neurological sciences.
[49] N. Katsanis,et al. Mutation analysis in Bardet–Biedl syndrome by DNA pooling and massively parallel resequencing in 105 individuals , 2010, Human Genetics.
[50] F. Plewniak,et al. Identification of a novel BBS gene (BBS12) highlights the major role of a vertebrate-specific branch of chaperonin-related proteins in Bardet-Biedl syndrome. , 2007, American journal of human genetics.
[51] S Rozen,et al. Primer3 on the WWW for general users and for biologist programmers. , 2000, Methods in molecular biology.
[52] R. Pruett,et al. Retinitis pigmentosa: clinical observations and correlations. , 1983, Transactions of the American Ophthalmological Society.
[53] S. Liebowitz. Retinitis pigmentosa. , 1979, Journal - American Intra-Ocular Implant Society.