{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,6]],"date-time":"2026-10-06T11:40:48Z","timestamp":1791286848563,"version":"4.1.0"},"reference-count":44,"publisher":"Elsevier BV","issue":"1","license":[{"start":{"date-parts":[[2016,7,1]],"date-time":"2016-07-01T00:00:00Z","timestamp":1467331200000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2016,4,19]],"date-time":"2016-04-19T00:00:00Z","timestamp":1461024000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":["kidney-international.theisn.org","elsevier.com","sciencedirect.com"],"crossmark-restriction":true},"short-container-title":["Kidney International"],"published-print":{"date-parts":[[2016,7]]},"DOI":"10.1016\/j.kint.2016.03.027","type":"journal-article","created":{"date-parts":[[2016,5,25]],"date-time":"2016-05-25T09:30:41Z","timestamp":1464168641000},"page":"203-211","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":85,"title":["Chromosome 17q12 microdeletions but not intragenic HNF1B mutations link developmental kidney disease and psychiatric disorder"],"prefix":"10.1016","volume":"90","author":[{"given":"Rhian L.","family":"Clissold","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Charles","family":"Shaw-Smith","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Peter","family":"Turnpenny","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Benjamin","family":"Bunce","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Detlef","family":"Bockenhauer","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Larissa","family":"Kerecuk","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Simon","family":"Waller","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Pamela","family":"Bowman","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tamsin","family":"Ford","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sian","family":"Ellard","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Andrew T.","family":"Hattersley","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Coralie","family":"Bingham","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"78","reference":[{"key":"10.1016\/j.kint.2016.03.027_bib1","doi-asserted-by":"crossref","first-page":"2864","DOI":"10.1681\/ASN.2006030277","article-title":"Prevalence of mutations in renal developmental genes in children with renal hypodysplasia: results of the ESCAPE study","volume":"17","author":"Weber","year":"2006","journal-title":"J\u00a0Am Soc Nephrol"},{"key":"10.1016\/j.kint.2016.03.027_bib2","doi-asserted-by":"crossref","first-page":"897","DOI":"10.1007\/s00467-011-1826-9","article-title":"HNF1B and PAX2 mutations are a common cause of renal hypodysplasia in the CKiD cohort","volume":"26","author":"Thomas","year":"2011","journal-title":"Pediatr Nephrol"},{"key":"10.1016\/j.kint.2016.03.027_bib3","doi-asserted-by":"crossref","first-page":"1179","DOI":"10.2215\/CJN.10221012","article-title":"Severe prenatal renal anomalies associated with mutations in HNF1B or PAX2 genes","volume":"8","author":"Madariaga","year":"2013","journal-title":"Clin J Am Soc Nephrol"},{"key":"10.1016\/j.kint.2016.03.027_bib4","doi-asserted-by":"crossref","first-page":"923","DOI":"10.1681\/ASN.2006091057","article-title":"Anomalies of the TCF2 gene are the main cause of fetal bilateral hyperechogenic kidneys","volume":"18","author":"Decramer","year":"2007","journal-title":"J\u00a0Am Soc Nephrol"},{"key":"10.1016\/j.kint.2016.03.027_bib5","doi-asserted-by":"crossref","first-page":"1079","DOI":"10.2215\/CJN.06810909","article-title":"Spectrum of HNF1B mutations in a large cohort of patients who harbor renal diseases","volume":"5","author":"Heidet","year":"2010","journal-title":"Clin J Am Soc Nephrol"},{"key":"10.1016\/j.kint.2016.03.027_bib6","doi-asserted-by":"crossref","first-page":"768","DOI":"10.1038\/ki.2011.225","article-title":"Diagnosis, management, and\u00a0prognosis of HNF1B nephropathy in adulthood","volume":"80","author":"Faguer","year":"2011","journal-title":"Kidney Int"},{"key":"10.1016\/j.kint.2016.03.027_bib7","doi-asserted-by":"crossref","first-page":"497","DOI":"10.1681\/ASN.2005101040","article-title":"Renal phenotypes related to hepatocyte nuclear factor-1beta (TCF2) mutations in a pediatric cohort","volume":"17","author":"Ulinski","year":"2006","journal-title":"J\u00a0Am Soc Nephrol"},{"key":"10.1016\/j.kint.2016.03.027_bib8","doi-asserted-by":"crossref","first-page":"627","DOI":"10.1093\/ndt\/gfm603","article-title":"Hepatocyte nuclear factor-1beta gene deletions\u2014a common cause of renal disease","volume":"23","author":"Edghill","year":"2008","journal-title":"Nephrol Dial Transplant"},{"key":"10.1016\/j.kint.2016.03.027_bib9","first-page":"3326","article-title":"Systematic review of TCF2 anomalies in renal cysts and diabetes syndrome\/maturity onset diabetes of the young type 5","volume":"123","author":"Chen","year":"2010","journal-title":"Chin Med J (Engl)"},{"key":"10.1016\/j.kint.2016.03.027_bib10","doi-asserted-by":"crossref","first-page":"1123","DOI":"10.1681\/ASN.2008060633","article-title":"HNF1B mutations associate with hypomagnesemia and renal magnesium wasting","volume":"20","author":"Adalat","year":"2009","journal-title":"J\u00a0Am Soc Nephrol"},{"key":"10.1016\/j.kint.2016.03.027_bib11","doi-asserted-by":"crossref","first-page":"1645","DOI":"10.1046\/j.1523-1755.2003.00903.x","article-title":"Atypical familial juvenile hyperuricemic nephropathy associated with a hepatocyte nuclear factor-1beta gene mutation","volume":"63","author":"Bingham","year":"2003","journal-title":"Kidney Int"},{"key":"10.1016\/j.kint.2016.03.027_bib12","doi-asserted-by":"crossref","first-page":"219","DOI":"10.1086\/316945","article-title":"Mutations in the hepatocyte\u00a0nuclear factor-1beta gene are associated with familial hypoplastic glomerulocystic kidney disease","volume":"68","author":"Bingham","year":"2001","journal-title":"Am J Hum Genet"},{"key":"10.1016\/j.kint.2016.03.027_bib13","doi-asserted-by":"crossref","first-page":"510","DOI":"10.7326\/0003-4819-140-7-200404060-00009","article-title":"Clinical spectrum associated with hepatocyte nuclear factor-1beta mutations","volume":"140","author":"Bellanne-Chantelot","year":"2004","journal-title":"Ann Intern Med"},{"key":"10.1016\/j.kint.2016.03.027_bib14","doi-asserted-by":"crossref","first-page":"782","DOI":"10.1111\/j.1464-5491.2008.02460.x","article-title":"Lack of pancreatic body and tail in HNF1B mutation carriers","volume":"25","author":"Haldorsen","year":"2008","journal-title":"Diabet Med"},{"key":"10.1016\/j.kint.2016.03.027_bib15","doi-asserted-by":"crossref","first-page":"2001","DOI":"10.1093\/hmg\/8.11.2001","article-title":"A\u00a0novel syndrome of diabetes mellitus, renal dysfunction and genital malformation associated with a\u00a0partial deletion of the pseudo-POU domain of hepatocyte nuclear factor-1beta","volume":"8","author":"Lindner","year":"1999","journal-title":"Hum Mol Genet"},{"key":"10.1016\/j.kint.2016.03.027_bib16","doi-asserted-by":"crossref","first-page":"2144","DOI":"10.2337\/diacare.21.12.2144","article-title":"Liver and kidney function in Japanese patients with maturity-onset diabetes of the young","volume":"21","author":"Iwasaki","year":"1998","journal-title":"Diabetes Care"},{"key":"10.1016\/j.kint.2016.03.027_bib17","doi-asserted-by":"crossref","first-page":"397","DOI":"10.1053\/ajkd.2002.34538","article-title":"Renal cysts and diabetes syndrome linked to mutations of the hepatocyte nuclear factor-1 beta gene: description of a new family with associated liver involvement","volume":"40","author":"Montoli","year":"2002","journal-title":"Am J Kidney Dis"},{"key":"10.1016\/j.kint.2016.03.027_bib18","doi-asserted-by":"crossref","first-page":"3126","DOI":"10.2337\/diabetes.54.11.3126","article-title":"Large genomic rearrangements in the hepatocyte nuclear factor-1beta (TCF2) gene are the most frequent cause of maturity-onset diabetes of the young type 5","volume":"54","author":"Bellanne-Chantelot","year":"2005","journal-title":"Diabetes"},{"key":"10.1016\/j.kint.2016.03.027_bib19","doi-asserted-by":"crossref","first-page":"84","DOI":"10.1136\/jmg.2005.032854","article-title":"Mutations in hepatocyte nuclear factor-1beta and their related phenotypes","volume":"43","author":"Edghill","year":"2006","journal-title":"J\u00a0Med Genet"},{"key":"10.1016\/j.kint.2016.03.027_bib20","doi-asserted-by":"crossref","first-page":"259","DOI":"10.1136\/archdischild-2014-306810","article-title":"Towards a new point of view on the phenotype of patients with a 17q12 microdeletion syndrome","volume":"100","author":"Laffargue","year":"2015","journal-title":"Arch Dis Child"},{"key":"10.1016\/j.kint.2016.03.027_bib21","doi-asserted-by":"crossref","first-page":"1057","DOI":"10.1086\/522591","article-title":"Recurrent reciprocal genomic rearrangements of 17q12 are associated with renal disease, diabetes, and epilepsy","volume":"81","author":"Mefford","year":"2007","journal-title":"Am J Hum Genet"},{"key":"10.1016\/j.kint.2016.03.027_bib22","doi-asserted-by":"crossref","first-page":"618","DOI":"10.1016\/j.ajhg.2010.10.004","article-title":"Deletion 17q12 is a recurrent copy number variant that confers high risk of autism and schizophrenia","volume":"87","author":"Moreno-De-Luca","year":"2010","journal-title":"Am J Hum Genet"},{"key":"10.1016\/j.kint.2016.03.027_bib23","doi-asserted-by":"crossref","first-page":"228","DOI":"10.1136\/jmg.2007.051839","article-title":"Genomic imbalances associated with mullerian aplasia","volume":"45","author":"Cheroki","year":"2008","journal-title":"J\u00a0Med Genet"},{"key":"10.1016\/j.kint.2016.03.027_bib24","doi-asserted-by":"crossref","first-page":"72","DOI":"10.1159\/000335344","article-title":"Recurrent transmission of a 17q12 microdeletion and a variable clinical spectrum","volume":"2","author":"George","year":"2012","journal-title":"Mol Syndromol"},{"key":"10.1016\/j.kint.2016.03.027_bib25","doi-asserted-by":"crossref","first-page":"373","DOI":"10.1016\/j.gene.2014.01.050","article-title":"Variable phenotype in 17q12 microdeletions: clinical and molecular characterization of a new case","volume":"538","author":"Palumbo","year":"2014","journal-title":"Gene"},{"key":"10.1016\/j.kint.2016.03.027_bib26","first-page":"264947","article-title":"Clinical report of a 17q12 microdeletion with additionally unreported clinical features","volume":"2014","author":"Roberts","year":"2014","journal-title":"Case Rep Genet"},{"key":"10.1016\/j.kint.2016.03.027_bib27","doi-asserted-by":"crossref","first-page":"179","DOI":"10.1089\/zeb.2008.0534","article-title":"hnf1b genes in zebrafish hindbrain development","volume":"5","author":"Choe","year":"2008","journal-title":"Zebrafish"},{"key":"10.1016\/j.kint.2016.03.027_bib28","doi-asserted-by":"crossref","first-page":"295","DOI":"10.1016\/j.ydbio.2011.06.042","article-title":"Identification of novel Hoxa1 downstream targets regulating hindbrain, neural crest and inner ear development","volume":"357","author":"Makki","year":"2011","journal-title":"Dev Biol"},{"key":"10.1016\/j.kint.2016.03.027_bib29","doi-asserted-by":"crossref","first-page":"1128","DOI":"10.1007\/s00125-004-1402-y","article-title":"Identification of a new case of hepatocyte nuclear factor-1beta mutation with highly varied phenotypes","volume":"47","author":"Shihara","year":"2004","journal-title":"Diabetologia"},{"key":"10.1016\/j.kint.2016.03.027_bib30","doi-asserted-by":"crossref","first-page":"21","DOI":"10.1186\/1749-8104-4-21","article-title":"Transcriptional control of axonal guidance and sorting in dorsal interneurons by the Lim-HD proteins Lhx9 and Lhx1","volume":"4","author":"Avraham","year":"2009","journal-title":"Neural Dev"},{"key":"10.1016\/j.kint.2016.03.027_bib31","doi-asserted-by":"crossref","first-page":"425","DOI":"10.1038\/374425a0","article-title":"Requirement for Lim1 in head-organizer function","volume":"374","author":"Shawlot","year":"1995","journal-title":"Nature"},{"key":"10.1016\/j.kint.2016.03.027_bib32","doi-asserted-by":"crossref","first-page":"221","DOI":"10.1016\/j.ajhg.2012.12.016","article-title":"Refinement and discovery of new hotspots of copy-number variation associated with autism spectrum disorder","volume":"92","author":"Girirajan","year":"2013","journal-title":"Am J Hum Genet"},{"key":"10.1016\/j.kint.2016.03.027_bib33","series-title":"The Mental Health of Children and Adolescents in Great Britain","author":"Meltzer","year":"1999"},{"key":"10.1016\/j.kint.2016.03.027_bib34","series-title":"Mental Health of Children and Young People in Great Britain, 2004","author":"Green","year":"2005"},{"key":"10.1016\/j.kint.2016.03.027_bib35","doi-asserted-by":"crossref","first-page":"1230","DOI":"10.1007\/s10803-007-0504-z","article-title":"The Autism Spectrum Quotient: Children's Version (AQ-Child)","volume":"38","author":"Auyeung","year":"2008","journal-title":"J\u00a0Autism Dev Disord"},{"key":"10.1016\/j.kint.2016.03.027_bib36","doi-asserted-by":"crossref","first-page":"343","DOI":"10.1007\/s10803-006-0073-6","article-title":"The Autism-Spectrum Quotient (AQ)\u2014adolescent version","volume":"36","author":"Baron-Cohen","year":"2006","journal-title":"J\u00a0Autism Dev Disord"},{"key":"10.1016\/j.kint.2016.03.027_bib37","doi-asserted-by":"crossref","first-page":"5","DOI":"10.1023\/A:1005653411471","article-title":"The autism-spectrum quotient (AQ): evidence from Asperger syndrome\/high-functioning autism, males and females, scientists and mathematicians","volume":"31","author":"Baron-Cohen","year":"2001","journal-title":"J\u00a0Autism Dev Disord"},{"key":"10.1016\/j.kint.2016.03.027_bib38","series-title":"Autism: Recognition, Referral, Diagnosis and Management of Adults on the Autism Spectrum","year":"2012"},{"key":"10.1016\/j.kint.2016.03.027_bib39","doi-asserted-by":"crossref","first-page":"3430","DOI":"10.1093\/ndt\/gfq380","article-title":"Autism in three patients with cystic or hyperechogenic kidneys and chromosome 17q12 deletion","volume":"25","author":"Loirat","year":"2010","journal-title":"Nephrol Dial Transplant"},{"key":"10.1016\/j.kint.2016.03.027_bib40","doi-asserted-by":"crossref","first-page":"629","DOI":"10.1681\/ASN.2008030287","article-title":"New equations to estimate GFR in children with CKD","volume":"20","author":"Schwartz","year":"2009","journal-title":"J\u00a0Am Soc Nephrol"},{"key":"10.1016\/j.kint.2016.03.027_bib41","doi-asserted-by":"crossref","first-page":"461","DOI":"10.7326\/0003-4819-130-6-199903160-00002","article-title":"A\u00a0more accurate method to estimate glomerular filtration rate from serum creatinine: a new prediction equation","volume":"130","author":"Levey","year":"1999","journal-title":"Ann Intern Med"},{"key":"10.1016\/j.kint.2016.03.027_bib42","doi-asserted-by":"crossref","first-page":"791","DOI":"10.1111\/1469-7610.00494","article-title":"The extended version of the Strengths and Difficulties Questionnaire as a guide to child psychiatric caseness and consequent burden","volume":"40","author":"Goodman","year":"1999","journal-title":"J\u00a0Child Psychol Psychiatry"},{"key":"10.1016\/j.kint.2016.03.027_bib43","series-title":"Kaufman Brief Intelligence Test","author":"Kaufman","year":"2004"},{"key":"10.1016\/j.kint.2016.03.027_bib44","doi-asserted-by":"crossref","first-page":"1286","DOI":"10.1136\/adc.67.10.1286","article-title":"Centiles for adult head circumference","volume":"67","author":"Bushby","year":"1992","journal-title":"Arch Dis Child"}],"container-title":["Kidney International"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0085253816301156?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0085253816301156?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2022,6,30]],"date-time":"2022-06-30T11:26:25Z","timestamp":1656588385000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S0085253816301156"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2016,7]]},"references-count":44,"journal-issue":{"issue":"1","published-print":{"date-parts":[[2016,7]]}},"alternative-id":["S0085253816301156"],"URL":"https:\/\/doi.org\/10.1016\/j.kint.2016.03.027","relation":{},"ISSN":["0085-2538"],"issn-type":[{"value":"0085-2538","type":"print"}],"subject":[],"published":{"date-parts":[[2016,7]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"Chromosome 17q12 microdeletions but not intragenic HNF1B mutations link developmental kidney disease and psychiatric disorder","name":"articletitle","label":"Article Title"},{"value":"Kidney International","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.kint.2016.03.027","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"Copyright \u00a9 2016, International Society of Nephrology. Published by Elsevier Inc.","name":"copyright","label":"Copyright"}]}}