Mutation analysis in Bardet–Biedl syndrome by DNA pooling and massively parallel resequencing in 105 individuals
暂无分享,去创建一个
N. Katsanis | T. Hurd | P. Beales | F. Hildebrandt | Susan J Allen | E. Otto | E. Davis | R. Airik | J. M. Kasanuki | L. Kraak | Sabine Janssen | Gokul Ramaswami | E. Davis
[1] Colin A. Johnson,et al. Mutation analysis of 18 nephronophthisis associated ciliopathy disease genes using a DNA pooling and next generation sequencing strategy , 2010, Journal of Medical Genetics.
[2] S. Levy,et al. Candidate exome capture identifies mutation of SDCCAG8 as the cause of a retinal-renal ciliopathy , 2010, Nature Genetics.
[3] A. Sidow,et al. Functional analyses of variants reveal a significant role for dominant negative and common alleles in oligogenic Bardet–Biedl syndrome , 2010, Proceedings of the National Academy of Sciences.
[4] 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.
[5] V. Sheffield,et al. Bardet‐Biedl syndrome in Denmark—report of 13 novel sequence variations in six genes , 2010, Human mutation.
[6] N. Katsanis,et al. Identification of 28 novel mutations in the Bardet–Biedl syndrome genes: the burden of private mutations in an extensively heterogeneous disease , 2010, Human Genetics.
[7] P. Beales,et al. Making sense of cilia in disease: The human ciliopathies , 2009, American journal of medical genetics. Part C, Seminars in medical genetics.
[8] N. Katsanis,et al. Identification of 11 novel mutations in eight BBS genes by high-resolution homozygosity mapping , 2009, Journal of Medical Genetics.
[9] Colin A. Johnson,et al. A common allele in RPGRIP1L is a modifier of retinal degeneration in ciliopathies , 2009, Nature Genetics.
[10] Nicholas Katsanis,et al. Mechanistic insights into Bardet-Biedl syndrome, a model ciliopathy. , 2009, The Journal of clinical investigation.
[11] Peter Nürnberg,et al. A Systematic Approach to Mapping Recessive Disease Genes in Individuals from Outbred Populations , 2009, PLoS genetics.
[12] R. Lewis,et al. Hypomorphic mutations in syndromic encephalocele genes are associated with Bardet-Biedl syndrome , 2008, Nature Genetics.
[13] F. Hildebrandt,et al. Mutation analysis in nephronophthisis using a combined approach of homozygosity mapping, CEL I endonuclease cleavage, and direct sequencing , 2008, Human mutation.
[14] V. Sheffield,et al. Novel mutations in BBS5 highlight the importance of this gene in non-Caucasian Bardet–Biedl syndrome patients , 2008, American journal of medical genetics. Part A.
[15] V. Sheffield,et al. A Core Complex of BBS Proteins Cooperates with the GTPase Rab8 to Promote Ciliary Membrane Biogenesis , 2007, Cell.
[16] R. Lewis,et al. BBS10 encodes a vertebrate-specific chaperonin-like protein and is a major BBS locus , 2006, Nature Genetics.
[17] Thomas L Casavant,et al. Homozygosity mapping with SNP arrays identifies TRIM32, an E3 ubiquitin ligase, as a Bardet-Biedl syndrome gene (BBS11). , 2006, Proceedings of the National Academy of Sciences of the United States of America.
[18] S. Fisher,et al. Dissection of epistasis in oligogenic Bardet–Biedl syndrome , 2006, Nature.
[19] Edwin M Stone,et al. Comparative genomics and gene expression analysis identifies BBS9, a new Bardet-Biedl syndrome gene. , 2005, American journal of human genetics.
[20] B. Fernandez,et al. Clinical and genetic epidemiology of Bardet–Biedl syndrome in Newfoundland: A 22‐year prospective, population‐based, cohort study , 2005, American journal of medical genetics. Part A.
[21] Edwin M Stone,et al. Comparative genomic analysis identifies an ADP-ribosylation factor-like gene as the cause of Bardet-Biedl syndrome (BBS3). , 2004, American journal of human genetics.
[22] Tanya M. Teslovich,et al. Comparative Genomics Identifies a Flagellar and Basal Body Proteome that Includes the BBS5 Human Disease Gene , 2004, Cell.
[23] N. Katsanis. The oligogenic properties of Bardet-Biedl syndrome. , 2004, Human molecular genetics.
[24] Tanya M. Teslovich,et al. Basal body dysfunction is a likely cause of pleiotropic Bardet–Biedl syndrome , 2003, Nature.
[25] D. Besch,et al. Further support for digenic inheritance in Bardet-Biedl syndrome , 2003, Journal of medical genetics.
[26] 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.
[27] 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.
[28] J. Lupski,et al. Identification of a novel Bardet-Biedl syndrome protein, BBS7, that shares structural features with BBS1 and BBS2. , 2003, American journal of human genetics.
[29] P. Bork,et al. Human non-synonymous SNPs: server and survey. , 2002, Nucleic acids research.
[30] 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.
[31] J. Lupski,et al. BBS4 is a minor contributor to Bardet-Biedl syndrome and may also participate in triallelic inheritance. , 2002, American journal of human genetics.
[32] Bethan E. Hoskins,et al. Triallelic Inheritance in Bardet-Biedl Syndrome, a Mendelian Recessive Disorder , 2001, Science.
[33] Alfonso Baldi,et al. Identification of the gene that, when mutated, causes the human obesity syndrome BBS4 , 2001, Nature Genetics.
[34] V. Sheffield,et al. Positional cloning of a novel gene on chromosome 16q causing Bardet-Biedl syndrome (BBS2). , 2001, Human molecular genetics.
[35] Richard A. Lewis,et al. Mutations in MKKS cause obesity, retinal dystrophy and renal malformations associated with Bardet-Biedl syndrome , 2000, Nature Genetics.
[36] G. Bouffard,et al. Mutation of a gene encoding a putative chaperonin causes McKusick-Kaufman syndrome , 2000, Nature Genetics.
[37] J. Lupski,et al. Delineation of the critical interval of Bardet-Biedl syndrome 1 (BBS1) to a small region of 11q13, through linkage and haplotype analysis of 91 pedigrees. , 1999, American journal of human genetics.
[38] M. Woods,et al. A fifth locus for Bardet-Biedl syndrome maps to chromosome 2q31. , 1999, American journal of human genetics.
[39] G. Hitman,et al. Bardet-Biedl syndrome: a molecular and phenotypic study of 18 families. , 1997, Journal of medical genetics.
[40] A. Biedl. A pair of siblings with adiposo-genital dystrophy. 1922. , 1995, Obesity research.
[41] G. Bardet. ON CONGENITAL OBESITY SYNDROME WITH POLYDACTYLY AND RETINITIS PIGMENTOSA (A CONTRIBUTION TO THE STUDY OF CLINICAL FORMS OF HYPOPHYSEAL OBESITY) Thesis, for the degree of Doctor of Medicine , 1995 .
[42] A. Teebi. Autosomal recessive disorders among Arabs: an overview from Kuwait. , 1994, Journal of medical genetics.
[43] T. Rosenberg,et al. Prevalence of retinitis pigmentosa and allied disorders in Denmark , 1992, Acta ophthalmologica.
[44] T. Farag,et al. Bardet‐Biedl and Laurence‐Moon syndromes in a mixed Arab population , 1988, Clinical genetics.
[45] E. Lander,et al. Homozygosity mapping: a way to map human recessive traits with the DNA of inbred children. , 1987, Science.
[46] 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.
[47] 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.
[48] V. Sheffield,et al. Mutations in MKKS cause Bardet-Biedl syndrome , 2001, Nature Genetics.
[49] G. Bardet. On congenital obesity syndrome with polydactyly and retinitis pigmentosa (a contribution to the study of clinical forms of hypophyseal obesity). 1920. , 1995, Obesity research.