{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,7]],"date-time":"2026-10-07T00:35:08Z","timestamp":1791333308727,"version":"4.3.1"},"reference-count":20,"publisher":"Elsevier BV","issue":"2","license":[{"start":{"date-parts":[[2003,2,1]],"date-time":"2003-02-01T00:00:00Z","timestamp":1044057600000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2013,7,19]],"date-time":"2013-07-19T00:00:00Z","timestamp":1374192000000},"content-version":"vor","delay-in-days":3821,"URL":"https:\/\/www.elsevier.com\/open-access\/userlicense\/1.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["The American Journal of Human Genetics"],"published-print":{"date-parts":[[2003,2]]},"DOI":"10.1086\/346172","type":"journal-article","created":{"date-parts":[[2003,4,23]],"date-time":"2003-04-23T16:54:13Z","timestamp":1051116853000},"page":"429-437","source":"Crossref","is-referenced-by-count":107,"title":["Evaluation of Complex Inheritance Involving the Most Common Bardet-Biedl Syndrome Locus (BBS1)"],"prefix":"10.1016","volume":"72","author":[{"given":"Kirk","family":"Mykytyn","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Darryl Y.","family":"Nishimura","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Charles C.","family":"Searby","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Gretel","family":"Beck","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kevin","family":"Bugge","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Heidi L.","family":"Haines","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alberto S.","family":"Cornier","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Gerald F.","family":"Cox","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Anne B.","family":"Fulton","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Rivka","family":"Carmi","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alessandro","family":"Iannaccone","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Samuel G.","family":"Jacobson","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Richard G.","family":"Weleber","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alan F.","family":"Wright","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ruth","family":"Riise","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"C.M.","family":"Raoul Hennekam","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"G\u00fcven","family":"L\u00fcleci","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sibel","family":"Berker-Karauzum","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Leslie G.","family":"Biesecker","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Edwin M.","family":"Stone","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Val C.","family":"Sheffield","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"78","reference":[{"key":"10.1086\/346172_bib6","doi-asserted-by":"crossref","first-page":"80","DOI":"10.1016\/0003-2697(91)90120-I","article-title":"Fast and sensitive silver staining of DNA in polyacrylamide gels","volume":"196","author":"Bassam","year":"1991","journal-title":"Anal Biochem"},{"key":"10.1086\/346172_bib7","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":"10.1086\/346172_bib8","doi-asserted-by":"crossref","first-page":"93","DOI":"10.1006\/geno.1997.4613","article-title":"Linkage mapping in 29 Bardet-Biedl syndrome families confirms loci in chromosomal regions 11q13, 15q22.3-q23, and 16q21","volume":"41","author":"Bruford","year":"1997","journal-title":"Genomics"},{"key":"10.1086\/346172_bib9","doi-asserted-by":"crossref","first-page":"9","DOI":"10.1093\/hmg\/4.1.9","article-title":"Use of a DNA pooling strategy to identify a human obesity syndrome locus on chromosome 15","volume":"4","author":"Carmi","year":"1995","journal-title":"Hum Mol Genet"},{"key":"10.1086\/346172_bib10","doi-asserted-by":"crossref","first-page":"164","DOI":"10.1002\/ajmg.1320520208","article-title":"Cardiac abnormalities in the Bardet-Biedl syndrome: echocardiographic studies of 22 patients","volume":"52","author":"Elbedour","year":"1994","journal-title":"Am J Med Genet"},{"key":"10.1086\/346172_bib11","doi-asserted-by":"crossref","first-page":"1002","DOI":"10.1056\/NEJM198910123211503","article-title":"The cardinal manifestations of Bardet-Biedl syndrome, a form of Lawrence-Moon-Biedl syndrome","volume":"321","author":"Green","year":"1989","journal-title":"N Engl J Med"},{"key":"10.1086\/346172_bib12","doi-asserted-by":"crossref","first-page":"615","DOI":"10.1056\/NEJM198809083191005","article-title":"The spectrum of renal disease in Laurence-Moon-Biedl syndrome","volume":"319","author":"Harnett","year":"1988","journal-title":"N Engl J Med"},{"key":"10.1086\/346172_bib13","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":"10.1086\/346172_bib14","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":"10.1086\/346172_bib15","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":"10.1086\/346172_bib16","doi-asserted-by":"crossref","first-page":"392","DOI":"10.1038\/ng1293-392","article-title":"Linkage of Bardet-Biedl syndrome to chromosome 16q and evidence for non-allelic genetic heterogeneity","volume":"5","author":"Kwitek-Black","year":"1993","journal-title":"Nat Genet"},{"key":"10.1086\/346172_bib17","doi-asserted-by":"crossref","first-page":"108","DOI":"10.1038\/ng0594-108","article-title":"Bardet-Biedl syndrome is linked to DNA markers on chromosome 11q and is genetically heterogeneous","volume":"7","author":"Leppert","year":"1994","journal-title":"Nat Genet"},{"key":"10.1086\/346172_bib18","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":"10.1086\/346172_bib19","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":"10.1086\/346172_bib20","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":"10.1086\/346172_bib21","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":"10.1086\/346172_bib22","doi-asserted-by":"crossref","first-page":"1364","DOI":"10.1001\/archopht.120.10.1364","article-title":"The phenotype in Norwegian patients with Bardet-Biedl syndrome with mutations in the BBS4 gene","volume":"120","author":"Riise","year":"2002","journal-title":"Arch Ophthalmol"},{"key":"10.1086\/346172_bib23","doi-asserted-by":"crossref","first-page":"1331","DOI":"10.1093\/hmg\/3.8.1331","article-title":"Identification of a Bardet-Biedl syndrome locus on chromosome 3 and evaluation of an efficient approach to homozygosity mapping","volume":"3","author":"Sheffield","year":"1994","journal-title":"Hum Mol Genet"},{"key":"10.1086\/346172_bib24","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":"10.1086\/346172_bib25","doi-asserted-by":"crossref","first-page":"900","DOI":"10.1086\/302301","article-title":"A fifth locus for Bardet-Biedl syndrome maps to 2q31","volume":"64","author":"Young","year":"1999","journal-title":"Am J Hum Genet"}],"container-title":["The American Journal of Human Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0002929707605515?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0002929707605515?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2024,12,12]],"date-time":"2024-12-12T13:36:04Z","timestamp":1734010564000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S0002929707605515"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2003,2]]},"references-count":20,"journal-issue":{"issue":"2","published-print":{"date-parts":[[2003,2]]}},"alternative-id":["S0002929707605515"],"URL":"https:\/\/doi.org\/10.1086\/346172","relation":{},"ISSN":["0002-9297"],"issn-type":[{"value":"0002-9297","type":"print"}],"subject":[],"published":{"date-parts":[[2003,2]]}}}