{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,6]],"date-time":"2026-10-06T07:35:47Z","timestamp":1791272147154,"version":"4.1.0"},"reference-count":14,"publisher":"Springer Science and Business Media LLC","issue":"1","license":[{"start":{"date-parts":[[2005,11,25]],"date-time":"2005-11-25T00:00:00Z","timestamp":1132876800000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/www.springer.com\/tdm"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J Hum Genet"],"published-print":{"date-parts":[[2006,1]]},"DOI":"10.1007\/s10038-005-0320-2","type":"journal-article","created":{"date-parts":[[2005,11,24]],"date-time":"2005-11-24T06:59:29Z","timestamp":1132815569000},"page":"81-84","source":"Crossref","is-referenced-by-count":28,"title":["BBS8 is rarely mutated in a cohort of 128 Bardet\u2013Biedl syndrome families"],"prefix":"10.1038","volume":"51","author":[{"given":"Corinne","family":"Stoetzel","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Virginie","family":"Laurier","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Laurence","family":"Faivre","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Andr\u00e9","family":"M\u00e9garban\u00e9","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Fabienne","family":"Perrin-Schmitt","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alain","family":"Verloes","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Dominique","family":"Bonneau","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jean-Louis","family":"Mandel","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mireille","family":"Cossee","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"H\u00e9l\u00e8ne","family":"Dollfus","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2005,11,25]]},"reference":[{"key":"320_CR1","doi-asserted-by":"publisher","first-page":"628","DOI":"10.1038\/nature02030","volume":"425","author":"SJ Ansley","year":"2003","unstructured":"Ansley SJ, Badano JL, Blacque OE et al (2003) Basal body dysfunction is a likely cause of pleiotropic Bardet-Biedl syndrome. Nature 425:628\u2013633","journal-title":"Nature"},{"key":"320_CR2","doi-asserted-by":"publisher","first-page":"650","DOI":"10.1086\/368204","volume":"72","author":"JL Badano","year":"2003","unstructured":"Badano JL, Ansley SJ, Leitch CC, Lewis RA, Lupski JR, Katsanis N (2003) Identification of a novel Bardet-Biedl Syndrome protein, BBS7, that shares structural features with BBS1 and BBS2. Am J Hum Genet 72:650\u2013658","journal-title":"Am J Hum Genet"},{"key":"320_CR3","doi-asserted-by":"crossref","first-page":"437","DOI":"10.1136\/jmg.36.6.437","volume":"36","author":"PL Beales","year":"1999","unstructured":"Beales PL, Elcioglu N, Woolf AS, Parker D, Flinter FA (1999) New criteria for improved diagnosis of Bardet-Biedl syndrome: results of a population survey. J Med Genet 36:437\u2013446","journal-title":"J Med Genet"},{"key":"320_CR4","doi-asserted-by":"publisher","first-page":"1630","DOI":"10.1101\/gad.1194004","volume":"18","author":"OE Blacque","year":"2004","unstructured":"Blacque OE, Reardon MJ, Li C, McCarthy J, Mahjoub MR, Ansley SJ, Badano JL, Mah AK, Beales PL, Davidson WS, Johnsen RC, Audeh M, Plasterk RH, Baillie DL, Katsanis N, Quarmby LM, Wicks SR, Leroux MR (2004) Loss of C. elegans BBS-7 and BBS-8 protein function results in cilia defects and compromised intraflagellar transport. Genes Dev 18:1630\u20131642","journal-title":"Genes Dev"},{"key":"320_CR5","doi-asserted-by":"publisher","first-page":"475","DOI":"10.1086\/423903","volume":"75","author":"AP Chiang","year":"2004","unstructured":"Chiang AP, Nishimura D, Searby C et al (2004) Comparative genomic analysis identifies an ADP-ribosylation factor-like gene as the cause of Bardet-Biedl syndrome (BBS3). Am J Hum Genet 75:475\u2013484","journal-title":"Am J Hum Genet"},{"key":"320_CR6","doi-asserted-by":"publisher","first-page":"989","DOI":"10.1038\/ng1414","volume":"36","author":"Y Fan","year":"2004","unstructured":"Fan Y, Esmail MA, Ansley SJ et al (2004) Mutations in a member of the Ras superfamily of small GTP-binding proteins causes Bardet-Biedl syndrome. Nat Genet 36:989\u2013993","journal-title":"Nat Genet"},{"key":"320_CR7","doi-asserted-by":"publisher","first-page":"607","DOI":"10.1038\/sj.ejhg.5201372","volume":"13","author":"H Hichri","year":"2005","unstructured":"Hichri H, Stoetzel C, Laurier V, Caron S, Sigaudy S, Sarda P, Hamel C, Martin-Coignard D, Gilles M, Leheup B, Holder M, Kaplan J, Bitoun P, Lacombe D, Verloes A, Bonneau D, Perrin-Schmitt F, Brandt C, Besancon AF, Mandel JL, Cossee M, Dollfus H (2005) Testing for triallelism: analysis of six BBS genes in a Bardet-Biedl syndrome family cohort. Eur J Hum Genet 13:607\u2013616","journal-title":"Eur J Hum Genet"},{"key":"320_CR8","doi-asserted-by":"publisher","first-page":"67","DOI":"10.1038\/79201","volume":"26","author":"N Katsanis","year":"2000","unstructured":"Katsanis N, Beales PL, Woods MO et al (2000) Mutations in MKKS cause obesity, retinal dystrophy and renal malformations associated with Bardet-Biedl syndrome. Nat Genet 26:67\u201370","journal-title":"Nat Genet"},{"key":"320_CR9","doi-asserted-by":"publisher","first-page":"2256","DOI":"10.1126\/science.1063525","volume":"293","author":"N Katsanis","year":"2001","unstructured":"Katsanis N, Ansley SJ, Badano JL et al (2001) Triallelic inheritance in Bardet-Biedl syndrome, a Mendelian recessive disorder. Science 293:2256\u20132259","journal-title":"Science"},{"key":"320_CR13","doi-asserted-by":"publisher","first-page":"541","DOI":"10.1016\/S0092-8674(04)00450-7","volume":"117","author":"JB Li","year":"2004","unstructured":"Li JB, Gerdes JM, Haycraft CJ et al (2004) Comparative genomics identifies a flagellar and basal body proteome that includes the BBS5 human disease gene. Cell 117:541\u2013552","journal-title":"Cell"},{"key":"320_CR12","doi-asserted-by":"publisher","first-page":"188","DOI":"10.1038\/88925","volume":"28","author":"K Mykytyn","year":"2001","unstructured":"Mykytyn K, Braun T, Carmi R et al (2001) Identification of the gene that, when mutated, causes the human obesity syndrome BBS4. Nat Genet 28:188\u2013191","journal-title":"Nat Genet"},{"key":"320_CR10","doi-asserted-by":"crossref","first-page":"435","DOI":"10.1038\/ng935","volume":"31","author":"K Mykytyn","year":"2002","unstructured":"Mykytyn K, Nishimura DY, Searby CC et al (2002) Identification of the gene (BBS1) most commonly involved in Bardet-Biedl syndrome, a complex human obesity syndrome. Nat Genet 31:435\u2013438","journal-title":"Nat Genet"},{"key":"320_CR11","doi-asserted-by":"publisher","first-page":"865","DOI":"10.1093\/hmg\/10.8.865","volume":"10","author":"DY Nishimura","year":"2001","unstructured":"Nishimura DY, Searby CC, Carmi R et al (2001) Positional cloning of a novel gene on chromosome 16q causing Bardet-Biedl syndrome. Hum Mol Genet 10:865\u2013874","journal-title":"Hum Mol Genet"},{"key":"320_CR14","doi-asserted-by":"publisher","first-page":"15","DOI":"10.1038\/79116","volume":"26","author":"AM Slavotinek","year":"2000","unstructured":"Slavotinek AM, Stone EM, Mykytyn K et al (2000) Mutations in MKKS cause Bardet-Biedl syndrome. Nat Genet 26:15\u201316","journal-title":"Nat Genet"}],"container-title":["Journal of Human Genetics"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/www.nature.com\/articles\/jhg200612.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/www.nature.com\/articles\/jhg200612","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/www.nature.com\/articles\/jhg200612.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,5,5]],"date-time":"2023-05-05T16:12:13Z","timestamp":1683303133000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.nature.com\/articles\/jhg200612"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2005,11,25]]},"references-count":14,"journal-issue":{"issue":"1","published-print":{"date-parts":[[2006,1]]}},"alternative-id":["320"],"URL":"https:\/\/doi.org\/10.1007\/s10038-005-0320-2","relation":{},"ISSN":["1434-5161","1435-232X"],"issn-type":[{"value":"1434-5161","type":"print"},{"value":"1435-232X","type":"electronic"}],"subject":[],"published":{"date-parts":[[2005,11,25]]}}}