{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,3,13]],"date-time":"2026-03-13T16:15:11Z","timestamp":1773418511128,"version":"3.50.1"},"reference-count":40,"publisher":"Elsevier BV","issue":"1","license":[{"start":{"date-parts":[[2005,1,1]],"date-time":"2005-01-01T00:00:00Z","timestamp":1104537600000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2005,1,1]],"date-time":"2005-01-01T00:00:00Z","timestamp":1104537600000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/legal\/tdmrep-license"}],"content-domain":{"domain":["ajkd.org","clinicalkey.com","clinicalkey.com.au","clinicalkey.es","clinicalkey.fr","clinicalkey.jp","elsevier.com","sciencedirect.com"],"crossmark-restriction":true},"short-container-title":["American Journal of Kidney Diseases"],"published-print":{"date-parts":[[2005,1]]},"DOI":"10.1053\/j.ajkd.2004.09.009","type":"journal-article","created":{"date-parts":[[2005,12,13]],"date-time":"2005-12-13T11:07:43Z","timestamp":1134472063000},"page":"77-87","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":31,"title":["Haplotype analysis improves molecular diagnostics of autosomal recessive polycystic kidney disease"],"prefix":"10.1053","volume":"45","author":[{"given":"Mark B.","family":"Consugar","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Sarah A.","family":"Anderson","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Sandro","family":"Rossetti","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"V. Shane","family":"Pankratz","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Christopher J.","family":"Ward","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Roser","family":"Torra","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Eliecer","family":"Coto","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Monif","family":"El-Youssef","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Sibel","family":"Kantarci","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Boris","family":"Utsch","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Friedhelm","family":"Hildebrandt","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"William E.","family":"Sweeney","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ellis D.","family":"Avner","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Vicente E.","family":"Torres","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Julie M.","family":"Cunningham","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Peter C.","family":"Harris","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"78","reference":[{"key":"10.1053\/j.ajkd.2004.09.009_bib1","doi-asserted-by":"crossref","first-page":"75","DOI":"10.1016\/j.ymgme.2003.10.010","article-title":"Molecular genetics of autosomal recessive polycystic kidney disease","volume":"81","author":"Harris","year":"2004","journal-title":"Mol Genet Metab"},{"key":"10.1053\/j.ajkd.2004.09.009_bib2","series-title":"Polycystic Kidney Disease","first-page":"237","article-title":"Autosomal recessive polycystic kidney disease","author":"Guay-Woodford","year":"1996"},{"key":"10.1053\/j.ajkd.2004.09.009_bib3","unstructured":"MacRae Dell KM, Avner ED: Autosomal recessive polycystic kidney disease, in GeneReviews; Genetic Disease Online Reviews at GeneTests-GeneClinics (University of Washington, Seattle, 2003; www.genclinics.org)"},{"key":"10.1053\/j.ajkd.2004.09.009_bib4","doi-asserted-by":"crossref","first-page":"43","DOI":"10.1007\/BF00859625","article-title":"Autosomal recessive polycystic kidney disease","volume":"3","author":"Kaplan","year":"1989","journal-title":"Pediatr Nephrol"},{"key":"10.1053\/j.ajkd.2004.09.009_bib5","doi-asserted-by":"crossref","first-page":"296","DOI":"10.1007\/BF00858681","article-title":"Dominant and recessive polycystic kidney disease in children","volume":"2","author":"Kaariainen","year":"1988","journal-title":"Pediatr Nephrol"},{"key":"10.1053\/j.ajkd.2004.09.009_bib6","doi-asserted-by":"crossref","first-page":"302","DOI":"10.1007\/s004670050281","article-title":"Autosomal recessive polycystic kidney disease","volume":"11","author":"Roy","year":"1997","journal-title":"Pediatr Nephrol"},{"key":"10.1053\/j.ajkd.2004.09.009_bib7","doi-asserted-by":"crossref","first-page":"119","DOI":"10.1007\/s00467-002-1021-0","article-title":"Autosomal recessive polycystic kidney disease","volume":"18","author":"Capisonda","year":"2003","journal-title":"Pediatr Nephrol"},{"key":"10.1053\/j.ajkd.2004.09.009_bib8","doi-asserted-by":"crossref","first-page":"693","DOI":"10.1016\/S0022-3476(87)80244-5","article-title":"Polycystic kidney disease in the first year of life","volume":"111","author":"Cole","year":"1987","journal-title":"J Pediatr"},{"key":"10.1053\/j.ajkd.2004.09.009_bib9","doi-asserted-by":"crossref","first-page":"1072","DOI":"10.1542\/peds.111.5.1072","article-title":"Autosomal recessive polycystic kidney disease","volume":"111","author":"Guay-Woodford","year":"2003","journal-title":"Pediatrics"},{"key":"10.1053\/j.ajkd.2004.09.009_bib10","doi-asserted-by":"crossref","first-page":"257","DOI":"10.1136\/jmg.8.3.257","article-title":"Polycystic disease of kidneys and liver presenting in childhood","volume":"8","author":"Blyth","year":"1971","journal-title":"J Med Genet"},{"key":"10.1053\/j.ajkd.2004.09.009_bib11","doi-asserted-by":"crossref","first-page":"1648","DOI":"10.1093\/ndt\/16.8.1648","article-title":"Autosomal recessive polycystic kidney disease in adulthood","volume":"16","author":"Fonck","year":"2001","journal-title":"Nephrol Dial Transplant"},{"key":"10.1053\/j.ajkd.2004.09.009_bib12","doi-asserted-by":"crossref","first-page":"391","DOI":"10.1046\/j.1523-1755.2003.00111.x","article-title":"A complete mutation screen of PKHD1 in autosomal recessive polycystic kidney pedigrees","volume":"64","author":"Rossetti","year":"2003","journal-title":"Kidney Int"},{"key":"10.1053\/j.ajkd.2004.09.009_bib13","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1038\/ng833","article-title":"The gene mutated in autosomal recessive polycystic kidney disease encodes a large, receptor-like protein","volume":"30","author":"Ward","year":"2002","journal-title":"Nat Genet"},{"key":"10.1053\/j.ajkd.2004.09.009_bib14","doi-asserted-by":"crossref","first-page":"1305","DOI":"10.1086\/340448","article-title":"PKHD1, the polycystic kidney and hepatic disease 1 gene, encodes a novel large protein containing multiple immunoglobulin-like plexin-transcription-factor domains and parallel beta-helix 1 repeats","volume":"70","author":"Onuchic","year":"2002","journal-title":"Am J Hum Genet"},{"key":"10.1053\/j.ajkd.2004.09.009_bib15","doi-asserted-by":"crossref","first-page":"429","DOI":"10.1038\/ng0794-429","article-title":"Mapping of the gene for autosomal recessive polycystic kidney disease (ARPKD) to chromosome 6p21-cen","volume":"7","author":"Zerres","year":"1994","journal-title":"Nat Genet"},{"key":"10.1053\/j.ajkd.2004.09.009_bib16","doi-asserted-by":"crossref","first-page":"137","DOI":"10.1002\/(SICI)1096-8628(19980305)76:2<137::AID-AJMG6>3.0.CO;2-Q","article-title":"Prenatal diagnosis of autosomal recessive polycystic kidney disease (ARPKD)","volume":"76","author":"Zerres","year":"1998","journal-title":"Am J Med Genet"},{"key":"10.1053\/j.ajkd.2004.09.009_bib17","doi-asserted-by":"crossref","first-page":"1303","DOI":"10.1016\/j.gastro.2003.09.001","article-title":"Defects in cholangiocyte fibrocystin expression and ciliary structure in the PCK rat","volume":"125","author":"Masyuk","year":"2003","journal-title":"Gastroenterol"},{"key":"10.1053\/j.ajkd.2004.09.009_bib18","doi-asserted-by":"crossref","first-page":"592","DOI":"10.1097\/01.ASN.0000113793.12558.1D","article-title":"The autosomal recessive polycystic kidney disease protein is localized to primary cilia, with concentration in the Basal body area","volume":"15","author":"Wang","year":"2004","journal-title":"J Am Soc Nephrol"},{"key":"10.1053\/j.ajkd.2004.09.009_bib19","doi-asserted-by":"crossref","first-page":"2703","DOI":"10.1093\/hmg\/ddg274","article-title":"Cellular and subcellular localization of the ARPKD protein; fibrocystin is expressed on primary cilia","volume":"12","author":"Ward","year":"2003","journal-title":"Hum Mol Genet"},{"key":"10.1053\/j.ajkd.2004.09.009_bib20","doi-asserted-by":"crossref","first-page":"2311","DOI":"10.1073\/pnas.0400073101","article-title":"PKHD1 protein encoded by the gene for autosomal recessive polycystic kidney disease associates with basal bodies and primary cilia in renal epithelial cells","volume":"101","author":"Zhang","year":"2004","journal-title":"Proc Natl Acad Sci U S A"},{"key":"10.1053\/j.ajkd.2004.09.009_bib21","doi-asserted-by":"crossref","first-page":"453","DOI":"10.1002\/humu.20029","article-title":"PKHD1 mutations in autosomal recessive polycystic kidney disease (ARPKD)","volume":"23","author":"Bergmann","year":"2004","journal-title":"Hum Mutation"},{"key":"10.1053\/j.ajkd.2004.09.009_bib22","doi-asserted-by":"crossref","first-page":"76","DOI":"10.1097\/01.ASN.0000039578.55705.6E","article-title":"Spectrum of mutations in the gene for autosomal recessive polycystic kidney disease (ARPKD\/PKHD1)","volume":"14","author":"Bergmann","year":"2003","journal-title":"J Am Soc Nephrol"},{"key":"10.1053\/j.ajkd.2004.09.009_bib23","doi-asserted-by":"crossref","first-page":"2004","DOI":"10.1097\/01.ASN.0000078805.87038.05","article-title":"Milder presentation of recessive polycystic kidney disease requires presence of amino acid substitution mutations","volume":"14","author":"Furu","year":"2003","journal-title":"J Am Soc Nephrol"},{"key":"10.1053\/j.ajkd.2004.09.009_bib24","doi-asserted-by":"crossref","first-page":"487","DOI":"10.1002\/humu.20019","article-title":"PKHD1 mutations in families requesting prenatal diagnosis for autosomal recessive polycystic kidney disease (ARPKD)","volume":"23","author":"Bergmann","year":"2004","journal-title":"Hum Mutat"},{"key":"10.1053\/j.ajkd.2004.09.009_bib25","doi-asserted-by":"crossref","first-page":"53","DOI":"10.1111\/j.0009-9163.2004.00259.x","article-title":"New options for prenatal diagnosis in autosomal recessive polycystic kidney disease by mutation analysis of the PKHD1 gene","volume":"66","author":"Zerres","year":"2004","journal-title":"Clin Genet"},{"key":"10.1053\/j.ajkd.2004.09.009_bib26","first-page":"83","article-title":"Should nifedipine be used to counter low blood sugar levels in children with persistent hyperinsulinaemic hypoglycaemia?","volume":"89","author":"M\u00fcller","year":"2004","journal-title":"Arch Dis Child"},{"key":"10.1053\/j.ajkd.2004.09.009_bib27","doi-asserted-by":"crossref","first-page":"152","DOI":"10.1038\/380152a0","article-title":"A comprehensive genetic map of the human genome based on 5,264 microsatellites","volume":"380","author":"Dib","year":"1996","journal-title":"Nature"},{"key":"10.1053\/j.ajkd.2004.09.009_bib28","doi-asserted-by":"crossref","first-page":"1004","DOI":"10.2144\/96206st01","article-title":"Modulation of non-templated nucleotide addition by Taq DNA polymerase","volume":"20","author":"Brownstein","year":"1996","journal-title":"BioTechniques"},{"key":"10.1053\/j.ajkd.2004.09.009_bib29","first-page":"18","article-title":"Likelihood methods for locating disease genes in nonequilibrium populations","volume":"56","author":"Kaplan","year":"1995","journal-title":"Am J Hum Genet"},{"key":"10.1053\/j.ajkd.2004.09.009_bib30","first-page":"705","article-title":"Maximum-likelihood estimation of gene location by linkage disequilibrium","volume":"54","author":"Hill","year":"1994","journal-title":"Am J Hum Genet"},{"key":"10.1053\/j.ajkd.2004.09.009_bib31","doi-asserted-by":"crossref","first-page":"1513","DOI":"10.1086\/515475","article-title":"Fine-scale genetic mapping based on linkage disequilibrium","volume":"60","author":"Xiong","year":"1997","journal-title":"Am J Hum Genet"},{"key":"10.1053\/j.ajkd.2004.09.009_bib32","first-page":"921","article-title":"Maximum-likelihood estimation of molecular haplotype frequencies in a diploid population","volume":"12","author":"Excoffier","year":"1995","journal-title":"Mol Biol Evol"},{"key":"10.1053\/j.ajkd.2004.09.009_bib33","doi-asserted-by":"crossref","first-page":"205","DOI":"10.1007\/s004670050042","article-title":"Analysis of chromosome 6p in Spanish families with recessive polycystic kidney disease","volume":"14","author":"Alvarez","year":"2000","journal-title":"Pediatr Nephrol"},{"key":"10.1053\/j.ajkd.2004.09.009_bib34","doi-asserted-by":"crossref","first-page":"40","DOI":"10.1006\/geno.1997.5145","article-title":"Fine mapping of the autosomal recessive polycystic kidney disease locus (PKHD1) and the genes MUT, RDS, CSNK2b, and GSTA1 at 6p21.2-p12","volume":"48","author":"M\u00fccher","year":"1998","journal-title":"Genomics"},{"key":"10.1053\/j.ajkd.2004.09.009_bib35","doi-asserted-by":"crossref","first-page":"335","DOI":"10.1016\/j.tibs.2004.05.002","article-title":"The PA14 domain, a conserved all-\u03b2 domain in bacterial toxins, enzymes, adhesins and signaling molecules","volume":"29","author":"Rigden","year":"2004","journal-title":"Trends Biochem Sci"},{"key":"10.1053\/j.ajkd.2004.09.009_bib36","doi-asserted-by":"crossref","first-page":"311","DOI":"10.1136\/jmg.40.5.311","article-title":"Molecular pathology and genetics of congenital hepatorenal fibrocystic syndromes","volume":"40","author":"Johnson","year":"2003","journal-title":"J Med Genet"},{"key":"10.1053\/j.ajkd.2004.09.009_bib37","doi-asserted-by":"crossref","first-page":"439","DOI":"10.1002\/humu.1130","article-title":"Denaturing high-performance liquid chromatography","volume":"17","author":"Xiao","year":"2001","journal-title":"Hum Mutat"},{"key":"10.1053\/j.ajkd.2004.09.009_bib38","series-title":"Metabolic and Molecular Bases of Inherited Disease","first-page":"259","article-title":"The nature and mechanisms of human gene mutation","author":"Cooper","year":"1995"},{"key":"10.1053\/j.ajkd.2004.09.009_bib39","doi-asserted-by":"crossref","first-page":"169","DOI":"10.1038\/ng0694-169","article-title":"The origin of the major cystic fibrosis mutation (D F508) in European populations","volume":"7","author":"Morral","year":"1994","journal-title":"Nat Genet"},{"key":"10.1053\/j.ajkd.2004.09.009_bib40","doi-asserted-by":"crossref","first-page":"1015","DOI":"10.1093\/hmg\/2.7.1015","article-title":"Microsatellite haplotypes for cystic fibrosis","volume":"2","author":"Morral","year":"1993","journal-title":"Hum Mol Genet"}],"container-title":["American Journal of Kidney Diseases"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0272638604013046?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0272638604013046?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2025,10,3]],"date-time":"2025-10-03T01:29:22Z","timestamp":1759454962000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S0272638604013046"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2005,1]]},"references-count":40,"journal-issue":{"issue":"1","published-print":{"date-parts":[[2005,1]]}},"alternative-id":["S0272638604013046"],"URL":"https:\/\/doi.org\/10.1053\/j.ajkd.2004.09.009","relation":{},"ISSN":["0272-6386"],"issn-type":[{"value":"0272-6386","type":"print"}],"subject":[],"published":{"date-parts":[[2005,1]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"Haplotype analysis improves molecular diagnostics of autosomal recessive polycystic kidney disease","name":"articletitle","label":"Article Title"},{"value":"American Journal of Kidney Diseases","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1053\/j.ajkd.2004.09.009","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"Copyright \u00a9 2004 National Kidney Foundation, Inc. Published by Elsevier Inc. All rights reserved.","name":"copyright","label":"Copyright"}]}}