{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,7]],"date-time":"2026-10-07T00:35:16Z","timestamp":1791333316733,"version":"4.3.1"},"reference-count":57,"publisher":"Hindawi Limited","issue":"4","license":[{"start":{"date-parts":[[2015,9,1]],"date-time":"2015-09-01T00:00:00Z","timestamp":1441065600000},"content-version":"tdm","delay-in-days":2041,"URL":"http:\/\/doi.wiley.com\/10.1002\/tdm_license_1.1"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Hum. Mutat."],"published-print":{"date-parts":[[2010,4]]},"DOI":"10.1002\/humu.21204","type":"journal-article","created":{"date-parts":[[2010,1,29]],"date-time":"2010-01-29T22:53:57Z","timestamp":1264805637000},"page":"429-436","source":"Crossref","is-referenced-by-count":70,"title":["Bardet-Biedl syndrome in Denmark-report of 13 novel sequence variations in six genes"],"prefix":"10.1155","volume":"31","author":[{"given":"Tina Duelund","family":"Hjortsh\u00f8j","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Karen","family":"Gr\u00f8nskov","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alisdair R.","family":"Philp","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Darryl Y.","family":"Nishimura","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ruth","family":"Riise","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Val C.","family":"Sheffield","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Thomas","family":"Rosenberg","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Karen","family":"Br\u00f8ndum-Nielsen","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"98","published-online":{"date-parts":[[2010,1,29]]},"reference":[{"key":"10.1002\/humu.21204-BIB1|cit1","first-page":"1","article-title":"Investigation cliniques et g\u00e9n\u00e9tiques sur le syndrome de Bardet-Biedl en Suisse","volume":"18","author":"Ammann","year":"1970","journal-title":"J Genet Hum"},{"key":"10.1002\/humu.21204-BIB2|cit2","doi-asserted-by":"crossref","first-page":"225","DOI":"10.1210\/jc.2004-0465","article-title":"Variation of the McKusick-Kaufman gene and studies of relationships with common forms of obesity","volume":"90","author":"Andersen","year":"2005","journal-title":"J Clin Endocrinol Metab"},{"key":"10.1002\/humu.21204-BIB3|cit3","doi-asserted-by":"crossref","first-page":"628","DOI":"10.1038\/nature02030","article-title":"Basal body dysfunction is a likely cause of pleiotropic Bardet-Biedl syndrome","volume":"425","author":"Ansley","year":"2003","journal-title":"Nature"},{"key":"10.1002\/humu.21204-BIB4|cit4","doi-asserted-by":"crossref","first-page":"5004","DOI":"10.1167\/iovs.06-0517","article-title":"Retinal Disease Expression in Bardet-Biedl Syndrome-1 (BBS1) Is a Spectrum from Maculopathy to Retina-Wide Degeneration","volume":"47","author":"Azari","year":"2006","journal-title":"Invest Ophthalmol Vis Sci"},{"key":"10.1002\/humu.21204-BIB5|cit5","doi-asserted-by":"crossref","first-page":"650","DOI":"10.1086\/368204","article-title":"Identification of a novel Bardet-Biedl syndrome protein, BBS7, that shares structural features with BBS1 and BBS2","volume":"72","author":"Badano","year":"2003a","journal-title":"Am J Hum Genet"},{"key":"10.1002\/humu.21204-BIB6|cit6","doi-asserted-by":"crossref","first-page":"1651","DOI":"10.1093\/hmg\/ddg188","article-title":"Heterozygous mutations in BBS1, BBS2 and BBS6 have a potential epistatic effect on Bardet-Biedl patients with two mutations at a second BBS locus","volume":"12","author":"Badano","year":"2003b","journal-title":"Hum Mol Genet"},{"key":"10.1002\/humu.21204-BIB7|cit7","doi-asserted-by":"crossref","first-page":"326","DOI":"10.1038\/nature04370","article-title":"Dissection of epistasis in oligogenic Bardet-Biedl syndrome","volume":"439","author":"Badano","year":"2006","journal-title":"Nature"},{"key":"10.1002\/humu.21204-BIB8|cit8","doi-asserted-by":"crossref","first-page":"1187","DOI":"10.1086\/375178","article-title":"Genetic interaction of BBS1 mutations with alleles at other BBS loci can result in non-Mendelian Bardet-Biedl syndrome","volume":"72","author":"Beales","year":"2003","journal-title":"Am J Hum Genet"},{"key":"10.1002\/humu.21204-BIB9|cit9","doi-asserted-by":"crossref","first-page":"437","DOI":"10.1136\/jmg.36.6.437","article-title":"New criteria for improved diagnosis of Bardet-Biedl syndrome: results of a population survey","volume":"36","author":"Beales","year":"1999","journal-title":"J Med Genet"},{"key":"10.1002\/humu.21204-BIB10|cit10","doi-asserted-by":"crossref","first-page":"92","DOI":"10.1136\/jmg.34.2.92","article-title":"Bardet-Biedl syndrome: a molecular and phenotypic study of 18 families","volume":"34","author":"Beales","year":"1997","journal-title":"J Med Genet"},{"key":"10.1002\/humu.21204-BIB11|cit11","first-page":"51","volume-title":"The Treasury of Human Inheritance","author":"Bell","year":"1958"},{"key":"10.1002\/humu.21204-BIB12|cit12","doi-asserted-by":"crossref","first-page":"128","DOI":"10.1080\/13816810802216464","article-title":"Bardet-biedl syndrome: an atypical phenotype in brothers with a proven BBS1 mutation","volume":"29","author":"Cannon","year":"2008","journal-title":"Ophthalmic Genet"},{"key":"10.1002\/humu.21204-BIB13|cit13","doi-asserted-by":"crossref","first-page":"199","DOI":"10.1002\/ajmg.1320590216","article-title":"Phenotypic differences among patients with Bardet-Biedl syndrome linked to three different chromosome loci","volume":"59","author":"Carmi","year":"1995","journal-title":"Am J Med Genet"},{"key":"10.1002\/humu.21204-BIB14|cit14","doi-asserted-by":"crossref","first-page":"6287","DOI":"10.1073\/pnas.0600158103","article-title":"Homozygosity mapping with SNP arrays identifies TRIM32, an E3 ubiquitin ligase, as a Bardet-Biedl syndrome gene (BBS11)","volume":"103","author":"Chiang","year":"2006","journal-title":"Proc Natl Acad Sci USA"},{"key":"10.1002\/humu.21204-BIB15|cit15","doi-asserted-by":"crossref","first-page":"475","DOI":"10.1086\/423903","article-title":"Comparative genomic analysis identifies an ADP-ribosylation factor-like gene as the cause of Bardet-Biedl syndrome (BBS3)","volume":"75","author":"Chiang","year":"2004","journal-title":"Am J Hum Genet"},{"key":"10.1002\/humu.21204-BIB16|cit16","doi-asserted-by":"crossref","first-page":"7","DOI":"10.1002\/(SICI)1098-1004(200001)15:1<7::AID-HUMU4>3.0.CO;2-N","article-title":"Mutation nomenclature extensions and suggestions to describe complex mutations: a discussion","volume":"15","author":"den Dunnen","year":"2000","journal-title":"Hum Mutat"},{"key":"10.1002\/humu.21204-BIB17|cit17","doi-asserted-by":"crossref","first-page":"989","DOI":"10.1038\/ng1414","article-title":"Mutations in a member of the Ras superfamily of small GTP-binding proteins causes Bardet-Biedl syndrome","volume":"36","author":"Fan","year":"2004","journal-title":"Nat Genet"},{"key":"10.1002\/humu.21204-BIB18|cit18","doi-asserted-by":"crossref","first-page":"e104","DOI":"10.1136\/jmg.40.8.e104","article-title":"Further support for digenic inheritance in Bardet-Biedl syndrome","volume":"40","author":"Fauser","year":"2003","journal-title":"J Med Genet"},{"key":"10.1002\/humu.21204-BIB19|cit19","doi-asserted-by":"crossref","first-page":"417","DOI":"10.1111\/j.1755-3768.1992.tb02109.x","article-title":"Prevalence of retinitis pigmentosa and allied disorders in Denmark. II. Systemic involvement and age at onset","volume":"70","author":"Haim","year":"1992","journal-title":"Acta Ophthalmol"},{"key":"10.1002\/humu.21204-BIB20|cit20","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1046\/j.1395-3907.2002.00001.x","article-title":"Epidemiology of retinitis pigmentosa in Denmark","volume":"80","author":"Haim","year":"2002","journal-title":"Acta Ophthalmol Scand Suppl"},{"key":"10.1002\/humu.21204-BIB21|cit21","doi-asserted-by":"crossref","first-page":"1581","DOI":"10.2337\/diabetes.54.5.1581","article-title":"Subcellular localization of ALMS1 supports involvement of centrosome and basal body dysfunction in the pathogenesis of obesity, insulin resistance, and type 2 diabetes","volume":"54","author":"Hearn","year":"2005","journal-title":"Diabetes"},{"key":"10.1002\/humu.21204-BIB22|cit22","doi-asserted-by":"crossref","first-page":"283","DOI":"10.1002\/ajmg.a.30466","article-title":"Ocular phenotypes of three genetic variants of Bardet-Biedl syndrome","volume":"132","author":"Heon","year":"2005","journal-title":"Am J Med Genet A"},{"key":"10.1002\/humu.21204-BIB23|cit23","doi-asserted-by":"crossref","first-page":"607","DOI":"10.1038\/sj.ejhg.5201372","article-title":"Testing for triallelism: analysis of six BBS genes in a Bardet-Biedl syndrome family cohort","volume":"13","author":"Hichri","year":"2005","journal-title":"Eur J Hum Genet"},{"key":"10.1002\/humu.21204-BIB24|cit24","doi-asserted-by":"crossref","first-page":"409","DOI":"10.1136\/bjo.2007.131110","article-title":"A novel founder BBS1 mutation explains a unique high prevalence of Bardet-Biedl syndrome in the Faroe Islands","volume":"93","author":"Hjortshoj","year":"2009","journal-title":"Br J Ophthalmol"},{"key":"10.1002\/humu.21204-BIB25|cit25","doi-asserted-by":"crossref","first-page":"493","DOI":"10.1086\/428679","article-title":"Antenatal presentation of Bardet-Biedl syndrome may mimic Meckel syndrome","volume":"76","author":"Karmous-Benailly","year":"2005","journal-title":"Am J Hum Genet"},{"key":"10.1002\/humu.21204-BIB26|cit26","doi-asserted-by":"crossref","first-page":"2256","DOI":"10.1126\/science.1063525","article-title":"Triallelic inheritance in Bardet-Biedl syndrome, a Mendelian recessive disorder","volume":"293","author":"Katsanis","year":"2001","journal-title":"Science"},{"key":"10.1002\/humu.21204-BIB27|cit27","doi-asserted-by":"crossref","first-page":"67","DOI":"10.1038\/79201","article-title":"Mutations in MKKS cause obesity, retinal dystrophy and renal malformations associated with Bardet-Biedl syndrome","volume":"26","author":"Katsanis","year":"2000","journal-title":"Nat Genet"},{"key":"10.1002\/humu.21204-BIB28|cit28","doi-asserted-by":"crossref","first-page":"22","DOI":"10.1086\/341031","article-title":"BBS4 is a minor contributor to Bardet-Biedl syndrome and may also participate in triallelic inheritance","volume":"71","author":"Katsanis","year":"2002","journal-title":"Am J Hum Genet"},{"key":"10.1002\/humu.21204-BIB29|cit29","doi-asserted-by":"crossref","first-page":"462","DOI":"10.1038\/ng1352","article-title":"The Bardet-Biedl protein BBS4 targets cargo to the pericentriolar region and is required for microtubule anchoring and cell cycle progression","volume":"36","author":"Kim","year":"2004","journal-title":"Nat Genet"},{"key":"10.1002\/humu.21204-BIB30|cit30","doi-asserted-by":"crossref","first-page":"1007","DOI":"10.1242\/jcs.01676","article-title":"MKKS\/BBS6, a divergent chaperonin-like protein linked to the obesity disorder Bardet-Biedl syndrome, is a novel centrosomal component required for cytokinesis","volume":"118","author":"Kim","year":"2005","journal-title":"J Cell Sci"},{"key":"10.1002\/humu.21204-BIB31|cit31","doi-asserted-by":"crossref","first-page":"155","DOI":"10.1038\/ng1714","article-title":"MKS1, encoding a component of the flagellar apparatus basal body proteome, is mutated in Meckel syndrome","volume":"38","author":"Kyttala","year":"2006","journal-title":"Nat Genet"},{"key":"10.1002\/humu.21204-BIB32|cit32","doi-asserted-by":"crossref","first-page":"1195","DOI":"10.1038\/sj.ejhg.5201688","article-title":"Pitfalls of homozygosity mapping: an extended consanguineous Bardet-Biedl syndrome family with two mutant genes (BBS2, BBS10), three mutations, but no triallelism","volume":"14","author":"Laurier","year":"2006","journal-title":"Eur J Hum Genet"},{"key":"10.1002\/humu.21204-BIB33|cit33","doi-asserted-by":"crossref","first-page":"443","DOI":"10.1038\/ng.97","article-title":"Hypomorphic mutations in syndromic encephalocele genes are associated with Bardet-Biedl syndrome","volume":"40","author":"Leitch","year":"2008","journal-title":"Nat Genet"},{"key":"10.1002\/humu.21204-BIB34|cit34","doi-asserted-by":"crossref","first-page":"541","DOI":"10.1016\/S0092-8674(04)00450-7","article-title":"Comparative genomics identifies a flagellar and basal body proteome that includes the BBS5 human disease gene","volume":"117","author":"Li","year":"2004","journal-title":"Cell"},{"key":"10.1002\/humu.21204-BIB35|cit35","doi-asserted-by":"crossref","first-page":"1215","DOI":"10.1093\/nar\/16.3.1215","article-title":"A simple salting out procedure for extracting DNA from human nucleated cells","volume":"16","author":"Miller","year":"1988","journal-title":"Nucleic Acids Res"},{"key":"10.1002\/humu.21204-BIB36|cit36","doi-asserted-by":"crossref","first-page":"352","DOI":"10.1002\/ajmg.a.30406","article-title":"Clinical and genetic epidemiology of Bardet-Biedl syndrome in Newfoundland: a 22-year prospective, population-based, cohort study","volume":"132","author":"Moore","year":"2005","journal-title":"Am J Med Genet A"},{"key":"10.1002\/humu.21204-BIB37|cit37","doi-asserted-by":"crossref","first-page":"188","DOI":"10.1038\/88925","article-title":"Identification of the gene that, when mutated, causes the human obesity syndrome BBS4","volume":"28","author":"Mykytyn","year":"2001","journal-title":"Nat Genet"},{"key":"10.1002\/humu.21204-BIB38|cit38","doi-asserted-by":"crossref","first-page":"429","DOI":"10.1086\/346172","article-title":"Evaluation of complex inheritance involving the most common Bardet-Biedl syndrome locus (BBS1)","volume":"72","author":"Mykytyn","year":"2003","journal-title":"Am J Hum Genet"},{"key":"10.1002\/humu.21204-BIB39|cit39","doi-asserted-by":"crossref","first-page":"435","DOI":"10.1038\/ng935","article-title":"Identification of the gene (BBS1) most commonly involved in Bardet-Biedl syndrome, a complex human obesity syndrome","volume":"31","author":"Mykytyn","year":"2002","journal-title":"Nat Genet"},{"key":"10.1002\/humu.21204-BIB40|cit40","doi-asserted-by":"crossref","first-page":"1201","DOI":"10.1016\/j.cell.2007.03.053","article-title":"A Core Complex of BBS Proteins Cooperates with the GTPase Rab8 to Promote Ciliary Membrane Biogenesis","volume":"129","author":"Nachury","year":"2007","journal-title":"Cell"},{"key":"10.1002\/humu.21204-BIB41|cit41","doi-asserted-by":"crossref","first-page":"865","DOI":"10.1093\/hmg\/10.8.865","article-title":"Positional cloning of a novel gene on chromosome 16q causing Bardet-Biedl syndrome (BBS2)","volume":"10","author":"Nishimura","year":"2001","journal-title":"Hum Mol Genet"},{"key":"10.1002\/humu.21204-BIB42|cit42","doi-asserted-by":"crossref","first-page":"1021","DOI":"10.1086\/498323","article-title":"Comparative genomics and gene expression analysis identifies BBS9, a new Bardet-Biedl syndrome gene","volume":"77","author":"Nishimura","year":"2005","journal-title":"Am J Hum Genet"},{"key":"10.1002\/humu.21204-BIB43|cit43","doi-asserted-by":"crossref","first-page":"2528","DOI":"10.1097\/01.ASN.0000141055.57643.E0","article-title":"Intraflagellar transport and cilia-dependent renal disease: the ciliary hypothesis of polycystic kidney disease","volume":"15","author":"Pazour","year":"2004","journal-title":"J Am Soc Nephrol"},{"key":"10.1002\/humu.21204-BIB44|cit44","doi-asserted-by":"crossref","first-page":"45","DOI":"10.1111\/j.1600-0420.1996.tb00385.x","article-title":"The cause of death in Laurence-Moon-Bardet-Biedl syndrome","volume":"74","author":"Riise","year":"1996","journal-title":"Acta Ophthalmol Scand Suppl"},{"key":"10.1002\/humu.21204-BIB45|cit45","first-page":"1","article-title":"Laurence-Moon-Bardet-Biedl syndrome. Clinical, electrophysiological and genetic aspects","volume":"76","author":"Riise","year":"1998","journal-title":"Acta Ophthalmol Scand Suppl"},{"key":"10.1002\/humu.21204-BIB46|cit46","doi-asserted-by":"crossref","first-page":"378","DOI":"10.1136\/bjo.81.5.378","article-title":"Intrafamilial variation of the phenotype in Bardet-Biedl syndrome","volume":"81","author":"Riise","year":"1997","journal-title":"Br J Ophthalmol"},{"key":"10.1002\/humu.21204-BIB47|cit47","doi-asserted-by":"crossref","first-page":"285","DOI":"10.1001\/archopht.1982.01030030287011","article-title":"Bardet-Biedl syndrome and related disorders","volume":"100","author":"Schachat","year":"1982","journal-title":"Arch Ophthalmol"},{"key":"10.1002\/humu.21204-BIB48|cit48","doi-asserted-by":"crossref","first-page":"547","DOI":"10.1083\/jcb.200605092","article-title":"The von Hippel-Lindau tumor suppressor protein controls ciliogenesis by orienting microtubule growth","volume":"175","author":"Schermer","year":"2006","journal-title":"J Cell Biol"},{"key":"10.1002\/humu.21204-BIB49|cit49","doi-asserted-by":"crossref","first-page":"561","DOI":"10.1007\/s00439-002-0733-3","article-title":"Mutation analysis of the MKKS gene in McKusick-Kaufman syndrome and selected Bardet-Biedl syndrome patients","volume":"110","author":"Slavotinek","year":"2002","journal-title":"Hum Genet"},{"key":"10.1002\/humu.21204-BIB50|cit50","doi-asserted-by":"crossref","first-page":"15","DOI":"10.1038\/79116","article-title":"Mutations in MKKS cause Bardet-Biedl syndrome","volume":"26","author":"Slavotinek","year":"2000","journal-title":"Nat Genet"},{"key":"10.1002\/humu.21204-BIB51|cit51","doi-asserted-by":"crossref","first-page":"3487","DOI":"10.1167\/iovs.05-1334","article-title":"Screening of the eight BBS genes in Tunisian families: no evidence of triallelism","volume":"47","author":"Smaoui","year":"2006","journal-title":"Invest Ophthalmol Vis Sci"},{"key":"10.1002\/humu.21204-BIB52|cit52","doi-asserted-by":"crossref","first-page":"521","DOI":"10.1038\/ng1771","article-title":"BBS10 encodes a vertebrate-specific chaperonin-like protein and is a major BBS locus","volume":"38","author":"Stoetzel","year":"2006a","journal-title":"Nat Genet"},{"key":"10.1002\/humu.21204-BIB53|cit53","doi-asserted-by":"crossref","first-page":"81","DOI":"10.1007\/s10038-005-0320-2","article-title":"BBS8 is rarely mutated in a cohort of 128 Bardet-Biedl syndrome families","volume":"51","author":"Stoetzel","year":"2006b","journal-title":"J Hum Genet"},{"key":"10.1002\/humu.21204-BIB54|cit54","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1086\/510256","article-title":"Identification of a Novel BBS Gene (BBS12) Highlights the Major Role of a Vertebrate-Specific Branch of Chaperonin-Related Proteins in Bardet-Biedl Syndrome","volume":"80","author":"Stoetzel","year":"2007","journal-title":"Am J Hum Genet"},{"key":"10.1002\/humu.21204-BIB55|cit55","doi-asserted-by":"crossref","first-page":"79","DOI":"10.1038\/75637","article-title":"Mutation of a gene encoding a putative chaperonin causes McKusick-Kaufman syndrome","volume":"25","author":"Stone","year":"2000","journal-title":"Nat Genet"},{"key":"10.1002\/humu.21204-BIB56|cit56","doi-asserted-by":"crossref","first-page":"623","DOI":"10.1038\/ng1805","article-title":"Mutations in CEP290, which encodes a centrosomal protein, cause pleiotropic forms of Joubert syndrome","volume":"38","author":"Valente","year":"2006","journal-title":"Nat Genet"},{"key":"10.1002\/humu.21204-BIB57|cit57","doi-asserted-by":"crossref","first-page":"667","DOI":"10.1093\/hmg\/ddi468","article-title":"Bardet-Biedl syndrome genes are important in retrograde intracellular trafficking and Kupffer's vesicle cilia function","volume":"15","author":"Yen","year":"2006","journal-title":"Hum Mol Genet"}],"container-title":["Human Mutation"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fhumu.21204","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/onlinelibrary.wiley.com\/wol1\/doi\/10.1002\/humu.21204\/fullpdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,5,29]],"date-time":"2023-05-29T21:02:18Z","timestamp":1685394138000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/humu.21204"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2010,1,29]]},"references-count":57,"journal-issue":{"issue":"4","published-print":{"date-parts":[[2010,4]]}},"URL":"https:\/\/doi.org\/10.1002\/humu.21204","relation":{},"ISSN":["1059-7794"],"issn-type":[{"value":"1059-7794","type":"print"}],"subject":[],"published":{"date-parts":[[2010,1,29]]}}}