{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,30]],"date-time":"2025-10-30T22:17:01Z","timestamp":1761862621240,"version":"build-2065373602"},"reference-count":51,"publisher":"Elsevier BV","issue":"1","license":[{"start":{"date-parts":[[2007,1,1]],"date-time":"2007-01-01T00:00:00Z","timestamp":1167609600000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2007,1,1]],"date-time":"2007-01-01T00:00:00Z","timestamp":1167609600000},"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":[[2007,1]]},"DOI":"10.1053\/j.ajkd.2006.10.024","type":"journal-article","created":{"date-parts":[[2007,2,6]],"date-time":"2007-02-06T11:05:10Z","timestamp":1170759910000},"page":"e11-e21","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":15,"title":["Gross Genomic Rearrangement Involving the TSC2-PKD1 Contiguous Deletion Syndrome: Characterization of the Deletion Event by Quantitative Polymerase Chain Reaction Deletion Assay"],"prefix":"10.1053","volume":"49","author":[{"given":"Detlef","family":"Boehm","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Janina","family":"Bacher","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Hartmut P.H.","family":"Neumann","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"78","reference":[{"key":"10.1053\/j.ajkd.2006.10.024_bib1","doi-asserted-by":"crossref","first-page":"97","DOI":"10.1007\/s004390000348","article-title":"Molecular genetic advances in tuberous sclerosis","volume":"107","author":"Cheadle","year":"2000","journal-title":"Hum Genet"},{"key":"10.1053\/j.ajkd.2006.10.024_bib2","doi-asserted-by":"crossref","first-page":"37","DOI":"10.1038\/ng0992-37","article-title":"Linkage of an important gene locus for tuberous sclerosis to a chromosome 16 marker for polycystic kidney disease","volume":"2","author":"Kandt","year":"1992","journal-title":"Nat Genet"},{"key":"10.1053\/j.ajkd.2006.10.024_bib3","first-page":"725","article-title":"The polycystic kidney disease 1 gene encodes a 14 kb transcript and lies within a duplicated region on chromosome 16","volume":"78","year":"1994","journal-title":"Cell"},{"key":"10.1053\/j.ajkd.2006.10.024_bib4","first-page":"1112","article-title":"Clinical features and molecular analysis of the alpha thalassemia\/mental retardation syndromes. I. Cases due to deletions involving chromosome band 16p13.3","volume":"46","author":"Wilkie","year":"1990","journal-title":"Am J Hum Genet"},{"key":"10.1053\/j.ajkd.2006.10.024_bib5","doi-asserted-by":"crossref","first-page":"1305","DOI":"10.1016\/0092-8674(93)90618-Z","article-title":"Identification and characterization of the tuberous sclerosis gene on chromosome 16","volume":"75","year":"1993","journal-title":"Cell"},{"key":"10.1053\/j.ajkd.2006.10.024_bib6","doi-asserted-by":"crossref","first-page":"332","DOI":"10.1056\/NEJM199307293290508","article-title":"Autosomal dominant polycystic kidney disease","volume":"329","author":"Gabow","year":"1993","journal-title":"N Engl J Med"},{"key":"10.1053\/j.ajkd.2006.10.024_bib7","doi-asserted-by":"crossref","first-page":"115","DOI":"10.1007\/s004390000347","article-title":"Autosomal dominant polycystic kidney disease: Molecular genetics and molecular pathogenesis","volume":"107","author":"Koptides","year":"2000","journal-title":"Hum Genet"},{"key":"10.1053\/j.ajkd.2006.10.024_bib8","doi-asserted-by":"crossref","first-page":"328","DOI":"10.1038\/ng1294-328","article-title":"Deletion of the TSC2 and PKD1 genes associated with severe infantile polycystic kidney disease\u2014A contiguous gene syndrome","volume":"8","author":"Brook-Carter","year":"1994","journal-title":"Nat Genet"},{"key":"10.1053\/j.ajkd.2006.10.024_bib9","doi-asserted-by":"crossref","first-page":"368","DOI":"10.1002\/humu.20011","article-title":"Rapid detection of subtelomeric deletion\/duplication by novel real-time quantitative PCR using SYBR-green dye","volume":"23","author":"Boehm","year":"2004","journal-title":"Hum Mutat"},{"key":"10.1053\/j.ajkd.2006.10.024_bib10","doi-asserted-by":"crossref","first-page":"286","DOI":"10.1002\/pd.1408","article-title":"Prenatal diagnosis of a large de novo terminal deletion of chromosome 11q","volume":"26","author":"Boehm","year":"2006","journal-title":"Prenat Diagn"},{"key":"10.1053\/j.ajkd.2006.10.024_bib11","doi-asserted-by":"crossref","first-page":"378","DOI":"10.1002\/ajmg.a.31088","article-title":"Association of Jacobsen syndrome and bipolar affective disorder in a patient with a de novo 11q terminal deletion","volume":"140","author":"Bohm","year":"2006","journal-title":"Am J Med Genet A"},{"key":"10.1053\/j.ajkd.2006.10.024_bib12","doi-asserted-by":"crossref","first-page":"e113","DOI":"10.1136\/jmg.2004.019901","article-title":"SALL4 deletions are a common cause of Okihiro and acro-renal-ocular syndromes and confirm haploinsufficiency as the pathogenic mechanism","volume":"41","author":"Borozdin","year":"2004","journal-title":"J Med Genet"},{"key":"10.1053\/j.ajkd.2006.10.024_bib13","doi-asserted-by":"crossref","first-page":"D590","DOI":"10.1093\/nar\/gkj144","article-title":"The UCSC Genome Browser Database: Update 2006","volume":"34","author":"Hinrichs","year":"2006","journal-title":"Nucleic Acids Res"},{"key":"10.1053\/j.ajkd.2006.10.024_bib14","first-page":"656","article-title":"BLAT\u2014The BLAST-like alignment tool","volume":"12","author":"Kent","year":"2002","journal-title":"Genome Res"},{"key":"10.1053\/j.ajkd.2006.10.024_bib15","doi-asserted-by":"crossref","first-page":"333","DOI":"10.1006\/geno.2001.6568","article-title":"Homologues to the first gene for autosomal dominant polycystic kidney disease are pseudogenes","volume":"74","author":"Bogdanova","year":"2001","journal-title":"Genomics"},{"key":"10.1053\/j.ajkd.2006.10.024_bib16","doi-asserted-by":"crossref","first-page":"2503","DOI":"10.1093\/nar\/17.7.2503","article-title":"Analysis of any point mutation in DNA","volume":"17","author":"Newton","year":"1989","journal-title":"Nucleic Acids Res"},{"key":"10.1053\/j.ajkd.2006.10.024_bib17","doi-asserted-by":"crossref","first-page":"121","DOI":"10.1007\/s004390100505","article-title":"Nomenclature for the description of human sequence variations","volume":"109","author":"den Dunnen","year":"2001","journal-title":"Hum Genet"},{"key":"10.1053\/j.ajkd.2006.10.024_bib18","doi-asserted-by":"crossref","first-page":"573","DOI":"10.1093\/nar\/27.2.573","article-title":"Tandem repeats finder: A program to analyze DNA sequences","volume":"27","author":"Benson","year":"1999","journal-title":"Nucleic Acids Res"},{"key":"10.1053\/j.ajkd.2006.10.024_bib19","doi-asserted-by":"crossref","first-page":"1900","DOI":"10.1093\/ndt\/12.9.1900","article-title":"A large TSC2 and PKD1 gene deletion is associated with renal and extrarenal signs of autosomal dominant polycystic kidney disease","volume":"12","author":"Longa","year":"1997","journal-title":"Nephrol Dial Transplant"},{"key":"10.1053\/j.ajkd.2006.10.024_bib20","doi-asserted-by":"crossref","first-page":"843","DOI":"10.1086\/514888","article-title":"Renal cystic disease in tuberous sclerosis: Role of the polycystic kidney disease 1 gene","volume":"61","author":"Sampson","year":"1997","journal-title":"Am J Hum Genet"},{"key":"10.1053\/j.ajkd.2006.10.024_bib21","doi-asserted-by":"crossref","first-page":"E17","DOI":"10.1136\/jmg.40.2.e17","article-title":"Large deletion causing the TSC2-PKD1 contiguous gene syndrome without infantile polycystic disease","volume":"40","author":"Smulders","year":"2003","journal-title":"J Med Genet"},{"key":"10.1053\/j.ajkd.2006.10.024_bib22","doi-asserted-by":"crossref","first-page":"1038","DOI":"10.1053\/ajkd.1998.v31.pm9631851","article-title":"Facilitated diagnosis of the contiguous gene syndrome: Tuberous sclerosis and polycystic kidneys by means of haplotype studies","volume":"31","author":"Torra","year":"1998","journal-title":"Am J Kidney Dis"},{"key":"10.1053\/j.ajkd.2006.10.024_bib23","doi-asserted-by":"crossref","first-page":"198","DOI":"10.1097\/00000478-200202000-00006","article-title":"Renal disease in adults with TSC2\/PKD1 contiguous gene syndrome","volume":"26","author":"Martignoni","year":"2002","journal-title":"Am J Surg Pathol"},{"key":"10.1053\/j.ajkd.2006.10.024_bib24","doi-asserted-by":"crossref","first-page":"76","DOI":"10.1159\/000059872","article-title":"The TSC2\/PKD1 contiguous gene syndrome","volume":"122","author":"Harris","year":"1997","journal-title":"Contrib Nephrol"},{"key":"10.1053\/j.ajkd.2006.10.024_bib25","doi-asserted-by":"crossref","first-page":"136","DOI":"10.1136\/jmg.39.2.136","article-title":"Acrofacial dysostosis in a patient with the TSC2-PKD1 contiguous gene syndrome","volume":"39","author":"Dauwerse","year":"2002","journal-title":"J Med Genet"},{"key":"10.1053\/j.ajkd.2006.10.024_bib26","doi-asserted-by":"crossref","first-page":"602","DOI":"10.1007\/s00467-004-1442-z","article-title":"Tuberous sclerosis and polycystic kidney disease in a 3-month-old infant","volume":"19","author":"Laass","year":"2004","journal-title":"Pediatr Nephrol"},{"key":"10.1053\/j.ajkd.2006.10.024_bib27","doi-asserted-by":"crossref","first-page":"903","DOI":"10.1038\/sj.ejhg.5200545","article-title":"Identification of a subtle t(16;19)(p13.3;p13.3) in an infant with multiple congenital abnormalities using a 12-colour multiplex FISH telomere assay, M-TEL","volume":"8","author":"Brown","year":"2000","journal-title":"Eur J Hum Genet"},{"key":"10.1053\/j.ajkd.2006.10.024_bib28","doi-asserted-by":"crossref","first-page":"96","DOI":"10.1159\/000059874","article-title":"Tuberous sclerosis complex and early-onset autosomal dominant polycystic kidney disease as a \u2018contiguous gene\u2019 syndrome: Report of a case","volume":"122","author":"Mancino","year":"1997","journal-title":"Contrib Nephrol"},{"key":"10.1053\/j.ajkd.2006.10.024_bib29","doi-asserted-by":"crossref","first-page":"287","DOI":"10.1136\/jmg.37.4.287","article-title":"An unbalanced submicroscopic translocation t(8;16)(q24.3;p13.3)pat associated with tuberous sclerosis complex, adult polycystic kidney disease, and hypomelanosis of Ito","volume":"37","author":"Eussen","year":"2000","journal-title":"J Med Genet"},{"key":"10.1053\/j.ajkd.2006.10.024_bib30","doi-asserted-by":"crossref","first-page":"e99","DOI":"10.1002\/humu.9208","article-title":"Large deletions in the polycystic kidney disease 1 (PKD1) gene","volume":"23","author":"Ariyurek","year":"2004","journal-title":"Hum Mutat"},{"key":"10.1053\/j.ajkd.2006.10.024_bib31","doi-asserted-by":"crossref","first-page":"226","DOI":"10.1089\/gte.2005.9.226","article-title":"Large deletion at the TSC1 locus in a family with tuberous sclerosis complex","volume":"9","author":"Nellist","year":"2005","journal-title":"Genet Test"},{"key":"10.1053\/j.ajkd.2006.10.024_bib32","doi-asserted-by":"crossref","first-page":"156","DOI":"10.1007\/s004390100460","article-title":"TSC1 and TSC2 deletions differ in size, preference for recombinatorial sequences, and location within the gene","volume":"108","author":"Longa","year":"2001","journal-title":"Hum Genet"},{"key":"10.1053\/j.ajkd.2006.10.024_bib33","doi-asserted-by":"crossref","first-page":"259","DOI":"10.1007\/s004390000246","article-title":"Characterization of a novel 21-kb deletion, CFTRdele2,3(21 kb), in the CFTR gene: A cystic fibrosis mutation of Slavic origin common in Central and East Europe","volume":"106","author":"Dork","year":"2000","journal-title":"Hum Genet"},{"key":"10.1053\/j.ajkd.2006.10.024_bib34","doi-asserted-by":"crossref","first-page":"877","DOI":"10.1136\/jmg.37.11.877","article-title":"Characterisation of six large deletions in TSC2 identified using long range PCR suggests diverse mechanisms including Alu mediated recombination","volume":"37","author":"Dabora","year":"2000","journal-title":"J Med Genet"},{"key":"10.1053\/j.ajkd.2006.10.024_bib35","doi-asserted-by":"crossref","first-page":"343","DOI":"10.1002\/humu.20009","article-title":"Genomic rearrangements in the CFTR gene: Extensive allelic heterogeneity and diverse mutational mechanisms","volume":"23","author":"Audrezet","year":"2004","journal-title":"Hum Mutat"},{"key":"10.1053\/j.ajkd.2006.10.024_bib36","doi-asserted-by":"crossref","first-page":"567","DOI":"10.1038\/sj.ejhg.5201590","article-title":"Gross genomic rearrangements involving deletions in the CFTR gene: Characterization of six new events from a large cohort of hitherto unidentified cystic fibrosis chromosomes and meta-analysis of the underlying mechanisms","volume":"14","author":"Ferec","year":"2006","journal-title":"Eur J Hum Genet"},{"key":"10.1053\/j.ajkd.2006.10.024_bib37","doi-asserted-by":"crossref","first-page":"18","DOI":"10.1186\/1471-2350-7-18","article-title":"Breakpoint associated with a novel 2.3 Mb deletion in the VCFS region of 22q11 and the role of Alu (SINE) in recurring microdeletions","volume":"7","author":"Uddin","year":"2006","journal-title":"BMC Med Genet"},{"key":"10.1053\/j.ajkd.2006.10.024_bib38","doi-asserted-by":"crossref","first-page":"1157","DOI":"10.1093\/hmg\/8.7.1157","article-title":"A common molecular basis for rearrangement disorders on chromosome 22q11","volume":"8","author":"Edelmann","year":"1999","journal-title":"Hum Mol Genet"},{"key":"10.1053\/j.ajkd.2006.10.024_bib39","doi-asserted-by":"crossref","first-page":"58","DOI":"10.1002\/ajmg.a.20644","article-title":"First non-mosaic case of isopseudodicentric chromosome 18 (psu idic(18)(pter\u2192q22.1::q22.1\u2192pter) is associated with multiple congenital anomalies reminiscent of trisomy 18 and 18q- syndrome","volume":"127","author":"Meins","year":"2004","journal-title":"Am J Med Genet A"},{"key":"10.1053\/j.ajkd.2006.10.024_bib40","doi-asserted-by":"crossref","first-page":"3354","DOI":"10.1016\/S0021-9258(18)61510-8","article-title":"Alu-Alu recombination deletes splice acceptor sites and produces secreted low density lipoprotein receptor in a subject with familial hypercholesterolemia","volume":"262","author":"Lehrman","year":"1987","journal-title":"J Biol Chem"},{"key":"10.1053\/j.ajkd.2006.10.024_bib41","doi-asserted-by":"crossref","first-page":"229","DOI":"10.1002\/humu.10254","article-title":"Translocation and gross deletion breakpoints in human inherited disease and cancer I: Nucleotide composition and recombination-associated motifs","volume":"22","author":"Abeysinghe","year":"2003","journal-title":"Hum Mutat"},{"key":"10.1053\/j.ajkd.2006.10.024_bib42","doi-asserted-by":"crossref","first-page":"245","DOI":"10.1002\/humu.10253","article-title":"Translocation and gross deletion breakpoints in human inherited disease and cancer II: Potential involvement of repetitive sequence elements in secondary structure formation between DNA ends","volume":"22","author":"Chuzhanova","year":"2003","journal-title":"Hum Mutat"},{"issue":"suppl 3","key":"10.1053\/j.ajkd.2006.10.024_bib43","doi-asserted-by":"crossref","first-page":"S173","DOI":"10.1007\/PL00014395","article-title":"Disease-causing mutations in the human genome","volume":"159","author":"Antonarakis","year":"2000","journal-title":"Eur J Pediatr"},{"key":"10.1053\/j.ajkd.2006.10.024_bib44","doi-asserted-by":"crossref","first-page":"703","DOI":"10.1136\/jmg.2004.019224","article-title":"An Alu-mediated partial SDHC deletion causes familial and sporadic paraganglioma","volume":"41","author":"Baysal","year":"2004","journal-title":"J Med Genet"},{"key":"10.1053\/j.ajkd.2006.10.024_bib45","doi-asserted-by":"crossref","first-page":"414","DOI":"10.1006\/jmbi.1994.1002","article-title":"RecA-independent and recA-dependent intramolecular plasmid recombination","volume":"235","author":"Bi","year":"1994","journal-title":"J Mol Biol"},{"key":"10.1053\/j.ajkd.2006.10.024_bib46","doi-asserted-by":"crossref","first-page":"441","DOI":"10.1093\/genetics\/112.3.441","article-title":"Homologous recombination in Escherichia coli: Dependence on substrate length and homology","volume":"112","author":"Shen","year":"1986","journal-title":"Genetics"},{"key":"10.1053\/j.ajkd.2006.10.024_bib47","doi-asserted-by":"crossref","first-page":"1023","DOI":"10.1086\/301827","article-title":"Human meiotic recombination products revealed by sequencing a hotspot for homologous strand exchange in multiple HNPP deletion patients","volume":"62","author":"Reiter","year":"1998","journal-title":"Am J Hum Genet"},{"key":"10.1053\/j.ajkd.2006.10.024_bib48","doi-asserted-by":"crossref","first-page":"8319","DOI":"10.1073\/pnas.111008398","article-title":"Instability of repetitive DNA sequences: The role of replication in multiple mechanisms","volume":"98","author":"Bzymek","year":"2001","journal-title":"Proc Natl Acad Sci U S A"},{"key":"10.1053\/j.ajkd.2006.10.024_bib49","doi-asserted-by":"crossref","first-page":"1243","DOI":"10.1111\/j.1365-2958.2004.04076.x","article-title":"Encoded errors: Mutations and rearrangements mediated by misalignment at repetitive DNA sequences","volume":"52","author":"Lovett","year":"2004","journal-title":"Mol Microbiol"},{"key":"10.1053\/j.ajkd.2006.10.024_bib50","doi-asserted-by":"crossref","first-page":"477","DOI":"10.1128\/JB.181.2.477-482.1999","article-title":"Slipped misalignment mechanisms of deletion formation: In vivo susceptibility to nucleases","volume":"181","author":"Bzymek","year":"1999","journal-title":"J Bacteriol"},{"key":"10.1053\/j.ajkd.2006.10.024_bib51","doi-asserted-by":"crossref","first-page":"207","DOI":"10.1002\/humu.20133","article-title":"Meta-analysis of gross insertions causing human genetic disease: Novel mutational mechanisms and the role of replication slippage","volume":"25","author":"Chen","year":"2005","journal-title":"Hum Mutat"}],"container-title":["American Journal of Kidney Diseases"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S027263860601688X?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S027263860601688X?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2025,10,3]],"date-time":"2025-10-03T01:47:21Z","timestamp":1759456041000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S027263860601688X"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2007,1]]},"references-count":51,"journal-issue":{"issue":"1","published-print":{"date-parts":[[2007,1]]}},"alternative-id":["S027263860601688X"],"URL":"https:\/\/doi.org\/10.1053\/j.ajkd.2006.10.024","relation":{},"ISSN":["0272-6386"],"issn-type":[{"type":"print","value":"0272-6386"}],"subject":[],"published":{"date-parts":[[2007,1]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"Gross Genomic Rearrangement Involving the TSC2-PKD1 Contiguous Deletion Syndrome: Characterization of the Deletion Event by Quantitative Polymerase Chain Reaction Deletion Assay","name":"articletitle","label":"Article Title"},{"value":"American Journal of Kidney Diseases","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1053\/j.ajkd.2006.10.024","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"Copyright \u00a9 2006 National Kidney Foundation, Inc. Published by Elsevier Inc. All rights reserved.","name":"copyright","label":"Copyright"}]}}