{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,27]],"date-time":"2026-09-27T22:02:50Z","timestamp":1790546570690,"version":"4.1.0"},"reference-count":31,"publisher":"Elsevier BV","issue":"11","license":[{"start":{"date-parts":[[2011,12,1]],"date-time":"2011-12-01T00:00:00Z","timestamp":1322697600000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2015,12,7]],"date-time":"2015-12-07T00:00:00Z","timestamp":1449446400000},"content-version":"vor","delay-in-days":1467,"URL":"https:\/\/www.elsevier.com\/open-access\/userlicense\/1.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Kidney International"],"published-print":{"date-parts":[[2011,12]]},"DOI":"10.1038\/ki.2011.284","type":"journal-article","created":{"date-parts":[[2011,8,24]],"date-time":"2011-08-24T08:48:31Z","timestamp":1314175711000},"page":"1239-1245","source":"Crossref","is-referenced-by-count":125,"title":["Genotype\u2013phenotype correlation in 440 patients with NPHP-related ciliopathies"],"prefix":"10.1016","volume":"80","author":[{"given":"Moumita","family":"Chaki","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Julia","family":"Hoefele","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Susan J.","family":"Allen","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Gokul","family":"Ramaswami","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sabine","family":"Janssen","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Carsten","family":"Bergmann","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"John R.","family":"Heckenlively","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Edgar A.","family":"Otto","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Friedhelm","family":"Hildebrandt","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"78","reference":[{"key":"10.1038\/ki.2011.284_bb0010","first-page":"478","article-title":"Nephronophthisis-medullary cystic and medullary sponge kidney disease","volume":"vol 1","author":"Hildebrandt","year":"2007"},{"key":"10.1038\/ki.2011.284_bb0015","doi-asserted-by":"crossref","first-page":"1018","DOI":"10.1038\/ng2072","article-title":"Loss of GLIS2 causes nephronophthisis in humans and mice by increased apoptosis and fibrosis","volume":"39","author":"Attanasio","year":"2007","journal-title":"Nat Genet"},{"key":"10.1038\/ki.2011.284_bb0020","doi-asserted-by":"crossref","first-page":"875","DOI":"10.1038\/ng2039","article-title":"The ciliary gene RPGRIP1L is mutated in cerebello-oculo-renal syndrome (Joubert syndrome type B) and Meckel syndrome","volume":"39","author":"Delous","year":"2007","journal-title":"Nat Genet"},{"key":"10.1038\/ki.2011.284_bb0025","doi-asserted-by":"crossref","first-page":"559","DOI":"10.1016\/j.ajhg.2008.10.002","article-title":"CC2D2A is mutated in Joubert syndrome and interacts with the ciliopathy-associated basal body protein CEP290","volume":"83","author":"Gorden","year":"2008","journal-title":"Am J Hum Genet"},{"key":"10.1038\/ki.2011.284_bb0030","doi-asserted-by":"crossref","first-page":"149","DOI":"10.1038\/ng1097-149","article-title":"A novel gene encoding an SH3 domain protein is mutated in nephronophthisis type 1","volume":"17","author":"Hildebrandt","year":"1997","journal-title":"Nat Genet"},{"key":"10.1038\/ki.2011.284_bb0035","doi-asserted-by":"crossref","first-page":"455","DOI":"10.1038\/ng1216","article-title":"Mutations in a novel gene, NPHP3, cause adolescent nephronophthisis, tapeto-retinal degeneration and hepatic fibrosis","volume":"34","author":"Olbrich","year":"2003","journal-title":"Nat Genet"},{"key":"10.1038\/ki.2011.284_bb0040","doi-asserted-by":"crossref","first-page":"282","DOI":"10.1038\/ng1520","article-title":"A novel ciliary IQ domain protein, NPHP5, is mutated in Senior-Loken syndrome (nephronophthisis with retinitis pigmentosa), and interacts with RPGR and calmodulin","volume":"37","author":"Otto","year":"2005","journal-title":"Nat Genet"},{"key":"10.1038\/ki.2011.284_bb0045","doi-asserted-by":"crossref","first-page":"1167","DOI":"10.1086\/344395","article-title":"A gene mutated in nephronophthisis and retinitis pigmentosa encodes a novel protein, nephroretinin, conserved in evolution","volume":"71","author":"Otto","year":"2002","journal-title":"Am J Hum Genet"},{"key":"10.1038\/ki.2011.284_bb0050","doi-asserted-by":"crossref","first-page":"840","DOI":"10.1038\/ng.662","article-title":"Candidate exome capture identifies mutation of SDCCAG8 as the cause of a retinal-renal ciliopathy","volume":"42","author":"Otto","year":"2010","journal-title":"Nat Genet"},{"key":"10.1038\/ki.2011.284_bb0055","doi-asserted-by":"crossref","first-page":"413","DOI":"10.1038\/ng1217","article-title":"Mutations in INVS encoding inversin cause nephronophthisis type 2, linking renal cystic disease to the function of primary cilia and left-right axis determination","volume":"34","author":"Otto","year":"2003","journal-title":"Nat Genet"},{"key":"10.1038\/ki.2011.284_bb0060","doi-asserted-by":"crossref","first-page":"663","DOI":"10.1136\/jmg.2009.066613","article-title":"Hypomorphic mutations in meckelin (MKS3\/TMEM67) cause nephronophthisis with liver fibrosis (NPHP11)","volume":"46","author":"Otto","year":"2009","journal-title":"J Med Genet"},{"key":"10.1038\/ki.2011.284_bb0065","doi-asserted-by":"crossref","first-page":"587","DOI":"10.1681\/ASN.2007040490","article-title":"NEK8 mutations affect ciliary and centrosomal localization and may cause nephronophthisis","volume":"19","author":"Otto","year":"2008","journal-title":"J Am Soc Nephrol"},{"key":"10.1038\/ki.2011.284_bb0070","doi-asserted-by":"crossref","first-page":"778","DOI":"10.1086\/302819","article-title":"Characterization of the NPHP1 locus: mutational mechanism involved in deletions in familial juvenile nephronophthisis","volume":"66","author":"Saunier","year":"2000","journal-title":"Am J Hum Genet"},{"key":"10.1038\/ki.2011.284_bb0075","doi-asserted-by":"crossref","first-page":"674","DOI":"10.1038\/ng1786","article-title":"The centrosomal protein nephrocystin-6 is mutated in Joubert syndrome and activates transcription factor ATF4","volume":"38","author":"Sayer","year":"2006","journal-title":"Nat Genet"},{"key":"10.1038\/ki.2011.284_bb0080","doi-asserted-by":"crossref","first-page":"32","DOI":"10.1007\/s00467-005-2054-y","article-title":"Identification of the first AHI1 gene mutations in nephronophthisis-associated Joubert syndrome","volume":"21","author":"Utsch","year":"2006","journal-title":"Pediatr Nephrol"},{"key":"10.1038\/ki.2011.284_bb0085","doi-asserted-by":"crossref","first-page":"657","DOI":"10.1136\/jmg.2007.052027","article-title":"Mutation analysis of NPHP6\/CEP290 in patients with Joubert syndrome and Senior-Loken syndrome","volume":"44","author":"Helou","year":"2007","journal-title":"J Med Genet"},{"key":"10.1038\/ki.2011.284_bb0090","doi-asserted-by":"crossref","first-page":"411","DOI":"10.1002\/humu.9326","article-title":"Mutational analysis of the NPHP4 gene in 250 patients with nephronophthisis","volume":"25","author":"Hoefele","year":"2005","journal-title":"Hum Mutat"},{"key":"10.1038\/ki.2011.284_bb0095","doi-asserted-by":"crossref","first-page":"2789","DOI":"10.1681\/ASN.2007020243","article-title":"Evidence of oligogenic inheritance in nephronophthisis","volume":"18","author":"Hoefele","year":"2007","journal-title":"J Am Soc Nephrol"},{"key":"10.1038\/ki.2011.284_bb0100","doi-asserted-by":"crossref","first-page":"418","DOI":"10.1002\/humu.20669","article-title":"Mutation analysis in nephronophthisis using a combined approach of homozygosity mapping, CEL I endonuclease cleavage, and direct sequencing","volume":"29","author":"Otto","year":"2008","journal-title":"Hum Mutat"},{"key":"10.1038\/ki.2011.284_bb0105","doi-asserted-by":"crossref","first-page":"105","DOI":"10.1136\/jmg.2010.082552","article-title":"Mutation analysis of 18 nephronophthisis associated ciliopathy disease genes using a DNA pooling and next generation sequencing strategy","volume":"48","author":"Otto","year":"2011","journal-title":"J Med Genet"},{"key":"10.1038\/ki.2011.284_bb0110","doi-asserted-by":"crossref","first-page":"1520","DOI":"10.1038\/sj.ki.5002630","article-title":"Mutational analysis of the RPGRIP1L gene in patients with Joubert syndrome and nephronophthisis","volume":"72","author":"Wolf","year":"2007","journal-title":"Kidney Int"},{"key":"10.1038\/ki.2011.284_bb0115","doi-asserted-by":"crossref","first-page":"1566","DOI":"10.1681\/ASN.2006101164","article-title":"High NPHP1 and NPHP6 mutation rate in patients with Joubert Syndrome and nephronophthisis: potential epistatic effect of NPHP6 and AHI1 mutations in patients with NPHP1 mutations","volume":"18","author":"Tory","year":"2007","journal-title":"J Am Soc Nephrol"},{"key":"10.1038\/ki.2011.284_bb0120","doi-asserted-by":"crossref","first-page":"1989","DOI":"10.1093\/ndt\/gfl088","article-title":"Retinitis pigmentosa and renal failure in a patient with mutations in INVS","volume":"21","author":"O\u2032Toole","year":"2006","journal-title":"Nephrol Dial Transplant"},{"key":"10.1038\/ki.2011.284_bb0125","doi-asserted-by":"crossref","first-page":"839","DOI":"10.1038\/ki.2008.662","article-title":"Mutations of NPHP2 and NPHP3 in infantile nephronophthisis","volume":"75","author":"Tory","year":"2009","journal-title":"Kidney Int"},{"key":"10.1038\/ki.2011.284_bb0130","doi-asserted-by":"crossref","first-page":"959","DOI":"10.1016\/j.ajhg.2008.02.017","article-title":"Loss of nephrocystin-3 function can cause embryonic lethality, Meckel-Gruber-like syndrome, situs inversus, and renal-hepatic-pancreatic dysplasia","volume":"82","author":"Bergmann","year":"2008","journal-title":"Am J Hum Genet"},{"key":"10.1038\/ki.2011.284_bb0135","doi-asserted-by":"crossref","first-page":"170","DOI":"10.1086\/519494","article-title":"Pleiotropic effects of CEP290 (NPHP6) mutations extend to Meckel syndrome","volume":"81","author":"Baala","year":"2007","journal-title":"Am J Hum Genet"},{"key":"10.1038\/ki.2011.284_bb0140","doi-asserted-by":"crossref","first-page":"556","DOI":"10.1086\/507318","article-title":"Mutations in the CEP290 (NPHP6) gene are a frequent cause of Leber congenital amaurosis","volume":"79","author":"den Hollander","year":"2006","journal-title":"Am J Hum Genet"},{"key":"10.1038\/ki.2011.284_bb0145","doi-asserted-by":"crossref","first-page":"979","DOI":"10.1086\/425985","article-title":"Mutations in the AHI1 gene, encoding jouberin, cause Joubert syndrome with cortical polymicrogyria","volume":"75","author":"Dixon-Salazar","year":"2004","journal-title":"Am J Hum Genet"},{"key":"10.1038\/ki.2011.284_bb0150","doi-asserted-by":"crossref","first-page":"1008","DOI":"10.1038\/ng1419","article-title":"Abnormal cerebellar development and axonal decussation due to mutations in AHI1 in Joubert syndrome","volume":"36","author":"Ferland","year":"2004","journal-title":"Nat Genet"},{"key":"10.1038\/ki.2011.284_bb0155","doi-asserted-by":"crossref","first-page":"24","DOI":"10.1016\/j.ejmg.2007.10.001","article-title":"DNA analysis of AHI1, NPHP1 and CYCLIN D1 in Joubert syndrome patients from the Netherlands","volume":"51","author":"Kroes","year":"2008","journal-title":"Eur J Med Genet"},{"key":"10.1038\/ki.2011.284_bb0160","doi-asserted-by":"crossref","first-page":"e1000353","DOI":"10.1371\/journal.pgen.1000353","article-title":"A systematic approach to mapping recessive disease genes in individuals from outbred populations","volume":"5","author":"Hildebrandt","year":"2009","journal-title":"PLoS Genet"}],"container-title":["Kidney International"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0085253815549764?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0085253815549764?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2018,11,30]],"date-time":"2018-11-30T09:53:15Z","timestamp":1543571595000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S0085253815549764"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2011,12]]},"references-count":31,"journal-issue":{"issue":"11","published-print":{"date-parts":[[2011,12]]}},"alternative-id":["S0085253815549764"],"URL":"https:\/\/doi.org\/10.1038\/ki.2011.284","relation":{},"ISSN":["0085-2538"],"issn-type":[{"value":"0085-2538","type":"print"}],"subject":[],"published":{"date-parts":[[2011,12]]}}}