{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,29]],"date-time":"2026-09-29T05:51:55Z","timestamp":1790661115481,"version":"4.1.0"},"reference-count":38,"publisher":"Springer Science and Business Media LLC","issue":"9","license":[{"start":{"date-parts":[[2006,6,14]],"date-time":"2006-06-14T00:00:00Z","timestamp":1150243200000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/www.springer.com\/tdm"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Eur J Hum Genet"],"published-print":{"date-parts":[[2006,9]]},"DOI":"10.1038\/sj.ejhg.5201661","type":"journal-article","created":{"date-parts":[[2006,6,14]],"date-time":"2006-06-14T07:54:18Z","timestamp":1150271658000},"page":"1009-1017","source":"Crossref","is-referenced-by-count":33,"title":["Simple detection of genomic microdeletions and microduplications using QMPSF in patients with idiopathic mental retardation"],"prefix":"10.1038","volume":"14","author":[{"given":"Pascale","family":"Saugier-Veber","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alice","family":"Goldenberg","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Val\u00e9rie","family":"Drouin-Garraud","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"C\u00e9line","family":"de La Rochebrochard","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Val\u00e9rie","family":"Layet","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nathalie","family":"Drouot","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nathalie","family":"Le Meur","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Brigitte","family":"Gilbert-Du-ssardier","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"G\u00e9raldine","family":"Joly-H\u00e9las","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"H\u00e9l\u00e8ne","family":"Moirot","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Annick","family":"Rossi","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mario","family":"Tosi","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Thierry","family":"Fr\u00e9bourg","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2006,6,14]]},"reference":[{"key":"BF5201661_CR1","doi-asserted-by":"publisher","first-page":"261","DOI":"10.1111\/j.1651-2227.1995.tb13626.x","volume":"84","author":"R Matilainen","year":"1995","unstructured":"Matilainen R, Airaksinen E, Mononen T, Launiala K, Kaariainen R : A population-based study on the causes of mild and severe mental retardation. Acta Paediatr 1995; 84: 261\u2013266.","journal-title":"Acta Paediatr"},{"key":"BF5201661_CR2","doi-asserted-by":"publisher","first-page":"183","DOI":"10.1006\/mgme.1999.2864","volume":"67","author":"PL Deininger","year":"1999","unstructured":"Deininger PL, Batzer MA : Alu repeats and human disease. Mol Genet Metab 1999; 67: 183\u2013193.","journal-title":"Mol Genet Metab"},{"key":"BF5201661_CR3","doi-asserted-by":"publisher","first-page":"597","DOI":"10.1101\/gr.10.5.597","volume":"10","author":"Y Ji","year":"2000","unstructured":"Ji Y, Eichler EE, Schwartz S, Nicholls RD : Structure of chromosomal duplicons and their role in mediating human genomic disorders. Genome Res 2000; 10: 597\u2013610.","journal-title":"Genome Res"},{"key":"BF5201661_CR4","doi-asserted-by":"publisher","first-page":"1003","DOI":"10.1126\/science.1072047","volume":"297","author":"JA Bailey","year":"2002","unstructured":"Bailey JA, Gu Z, Clark RA et al: Recent segmental duplications in the human genome. Science 2002; 297: 1003\u20131007.","journal-title":"Science"},{"key":"BF5201661_CR5","doi-asserted-by":"publisher","first-page":"1676","DOI":"10.1016\/S0140-6736(99)03070-6","volume":"354","author":"SJ Knight","year":"1999","unstructured":"Knight SJ, Regan R, Nicod A et al: Subtle chromosomal rearrangements in children with unexplained mental retardation. Lancet 1999; 354: 1676\u20131681.","journal-title":"Lancet"},{"key":"BF5201661_CR6","doi-asserted-by":"publisher","first-page":"91","DOI":"10.1038\/nrg727","volume":"3","author":"HC Mefford","year":"2002","unstructured":"Mefford HC, Trask BJ : The complex structure and dynamic evolution of human subtelomeres. Nat Rev Genet 2002; 3: 91\u2013102.","journal-title":"Nat Rev Genet"},{"key":"BF5201661_CR7","doi-asserted-by":"publisher","first-page":"310","DOI":"10.1016\/S0959-437X(03)00049-2","volume":"13","author":"J Flint","year":"2003","unstructured":"Flint J, Knight S : The use of telomere probes to investigate submicroscopic rearrangements associated with mental retardation. Curr Opin Genet Dev 2003; 13: 310\u2013316.","journal-title":"Curr Opin Genet Dev"},{"key":"BF5201661_CR8","doi-asserted-by":"publisher","first-page":"417","DOI":"10.1016\/S0168-9525(98)01555-8","volume":"14","author":"JR Lupski","year":"1998","unstructured":"Lupski JR : Genomic disorders: structural features of the genome can lead to DNA rearrangements and human disease traits. Trends Genet 1998; 14: 417\u2013422.","journal-title":"Trends Genet"},{"key":"BF5201661_CR9","doi-asserted-by":"publisher","first-page":"74","DOI":"10.1016\/S0168-9525(02)02592-1","volume":"18","author":"P Stankiewicz","year":"2002","unstructured":"Stankiewicz P, Lupski JR : Genome architecture, rearrangements and genomic disorders. Trends Genet 2002; 18: 74\u201382.","journal-title":"Trends Genet"},{"key":"BF5201661_CR10","doi-asserted-by":"publisher","first-page":"440","DOI":"10.1002\/ajmg.10419","volume":"111","author":"JB Moeschler","year":"2002","unstructured":"Moeschler JB, Mohandas TK, Hawk AB, Noll WW : Estimate of prevalence of proximal 15q duplication syndrome. Am J Med Genet 2002; 111: 440\u2013442.","journal-title":"Am J Med Genet"},{"key":"BF5201661_CR11","doi-asserted-by":"publisher","first-page":"111","DOI":"10.1002\/ajmg.a.10176","volume":"119","author":"JA Thomas","year":"2003","unstructured":"Thomas JA, Johnson J, Peterson Kraai TL et al: Genetic and clinical characterization of patients with an interstitial duplication 15q11\u2013q13, emphasizing behavioral phenotype and response to treatment. Am J Med Genet A 2003; 119: 111\u2013120.","journal-title":"Am J Med Genet A"},{"key":"BF5201661_CR12","doi-asserted-by":"publisher","first-page":"84","DOI":"10.1038\/71743","volume":"24","author":"L Potocki","year":"2000","unstructured":"Potocki L, Chen KS, Park SS et al: Molecular mechanism for duplication 17p11.2 \u2013 the homologous recombination reciprocal of the Smith\u2013Magenis microdeletion. Nat Genet 2000; 24: 84\u201387.","journal-title":"Nat Genet"},{"key":"BF5201661_CR13","first-page":"73","volume":"15","author":"U Moog","year":"2004","unstructured":"Moog U, Engelen JJ, Weber BW et al: Hereditary motor and sensory neuropathy (HMSN) IA, developmental delay and autism related disorder in a boy with duplication (17)(p11.2p12). Genet Couns 2004; 15: 73\u201380.","journal-title":"Genet Couns"},{"key":"BF5201661_CR14","doi-asserted-by":"publisher","first-page":"1027","DOI":"10.1086\/378818","volume":"73","author":"RE Ensenauer","year":"2003","unstructured":"Ensenauer RE, Adeyinka A, Flynn HC et al: Microduplication 22q11.2, an emerging syndrome: clinical, cytogenetic, and molecular analysis of thirteen patients. Am J Hum Genet 2003; 73: 1027\u20131040.","journal-title":"Am J Hum Genet"},{"key":"BF5201661_CR15","doi-asserted-by":"publisher","first-page":"865","DOI":"10.1086\/429841","volume":"76","author":"TM Yobb","year":"2005","unstructured":"Yobb TM, Somerville MJ, Willatt L et al: Microduplication and triplication of 22q11.2: a highly variable syndrome. Am J Hum Genet 2005; 76: 865\u2013876.","journal-title":"Am J Hum Genet"},{"key":"BF5201661_CR16","doi-asserted-by":"publisher","first-page":"1694","DOI":"10.1056\/NEJMoa051962","volume":"353","author":"MJ Somerville","year":"2005","unstructured":"Somerville MJ, Mervis CB, Young EJ et al: Severe expressive-language related to duplication of the Williams\u2013Beuren locus. N Engl J Med 2005; 353: 1694\u20131701.","journal-title":"N Engl J Med"},{"key":"BF5201661_CR17","doi-asserted-by":"publisher","first-page":"78","DOI":"10.1086\/431652","volume":"77","author":"AJ Sharp","year":"2005","unstructured":"Sharp AJ, Locke DP, McGrath SD et al: Segmental duplications and copy-number variation in the human genome. Am J Hum Genet 2005; 77: 78\u201388.","journal-title":"Am J Hum Genet"},{"key":"BF5201661_CR18","doi-asserted-by":"publisher","first-page":"949","DOI":"10.1038\/ng1416","volume":"36","author":"AJ Iafrate","year":"2004","unstructured":"Iafrate AJ, Feuk L, Rivera MN et al: Detection of large-scale variation in the human genome. Nat Genet 2004; 36: 949\u2013951.","journal-title":"Nat Genet"},{"key":"BF5201661_CR19","doi-asserted-by":"publisher","first-page":"525","DOI":"10.1126\/science.1098918","volume":"305","author":"J Sebat","year":"2004","unstructured":"Sebat J, Lakshmi B, Troge J et al: Large-scale copy number polymorphism in the human genome. Science 2004; 305: 525\u2013528.","journal-title":"Science"},{"key":"BF5201661_CR20","doi-asserted-by":"publisher","first-page":"180","DOI":"10.1136\/jmg.2005.032268","volume":"43","author":"C Rosenberg","year":"2006","unstructured":"Rosenberg C, Knijnenburg J, Bakker E et al: Array-CGH detection of micro rearrangements in mentally retarded individuals: clinical significance of imbalances present both in affected children and normal parents. J Med Genet 2006; 43: 180\u2013186.","journal-title":"J Med Genet"},{"key":"BF5201661_CR21","doi-asserted-by":"publisher","first-page":"1261","DOI":"10.1086\/379977","volume":"73","author":"LE Vissers","year":"2003","unstructured":"Vissers LE, de Vries BB, Osoegawa K et al: Array-based comparative genomic hybridization for the genomewide detection of submicroscopic chromosomal abnormalities. Am J Hum Genet 2003; 73: 1261\u20131270.","journal-title":"Am J Hum Genet"},{"key":"BF5201661_CR22","doi-asserted-by":"publisher","first-page":"241","DOI":"10.1136\/jmg.2003.017731","volume":"41","author":"C Shaw-Smith","year":"2004","unstructured":"Shaw-Smith C, Redon R, Rickman L et al: Microarray based comparative genomic hybridisation (array-CGH) detects submicroscopic chromosomal deletions and duplications in patients with learning disability\/mental retardation and dysmorphic features. J Med Genet 2004; 41: 241\u2013248.","journal-title":"J Med Genet"},{"key":"BF5201661_CR23","doi-asserted-by":"publisher","first-page":"699","DOI":"10.1136\/jmg.2004.029637","volume":"42","author":"J Schoumans","year":"2005","unstructured":"Schoumans J, Ruivenkamp C, Holmberg E, Kyllerman M, Anderlid BM, Nordenskjold M : Detection of chromosomal imbalances in children with idiopathic mental retardation by array based comparative genomic hybridisation (array-CGH). J Med Genet 2005; 42: 699\u2013705.","journal-title":"J Med Genet"},{"key":"BF5201661_CR24","doi-asserted-by":"publisher","first-page":"606","DOI":"10.1086\/491719","volume":"77","author":"BB de Vries","year":"2005","unstructured":"de Vries BB, Pfundt R, Leisink M et al: Diagnostic genome profiling in mental retardation. Am J Hum Genet 2005; 77: 606\u2013616.","journal-title":"Am J Hum Genet"},{"key":"BF5201661_CR25","first-page":"2760","volume":"60","author":"F Charbonnier","year":"2000","unstructured":"Charbonnier F, Raux G, Wang Q et al: Detection of exon deletions and duplications of the mismatch repair genes in hereditary nonpolyposis colorectal cancer families using multiplex polymerise chain reaction of short fluorescent fragments. Cancer Res 2000; 60: 2760\u20132763.","journal-title":"Cancer Res"},{"key":"BF5201661_CR26","doi-asserted-by":"publisher","first-page":"218","DOI":"10.1002\/humu.10108","volume":"20","author":"F Casilli","year":"2002","unstructured":"Casilli F, Di Rocco ZC, Gad S et al: Rapid detection of novel BRCA1 rearrangements in high-risk breast-ovarian cancer families using multiplex PCR of short fluorescent fragments. Hum Mutat 2002; 20: 218\u2013226.","journal-title":"Hum Mutat"},{"key":"BF5201661_CR27","doi-asserted-by":"publisher","first-page":"24","DOI":"10.1038\/ng1718","volume":"38","author":"A Rovelet-Lecrux","year":"2006","unstructured":"Rovelet-Lecrux A, Hannequin D, Raux G et al: APP locus duplication causes autosomal dominant early-onset Alzheimer disease with cerebral amyloid angiopathy. Nat Genet 2006; 38: 24\u201326.","journal-title":"Nat Genet"},{"key":"BF5201661_CR28","doi-asserted-by":"publisher","first-page":"8143","DOI":"10.1158\/0008-5472.CAN-04-2467","volume":"64","author":"I Tournier","year":"2004","unstructured":"Tournier I, Paillerets BB, Sobol H et al: Significant contribution of germline BRCA2 rearrangements in male breast cancer families. Cancer Res 2004; 64: 8143\u20138147.","journal-title":"Cancer Res"},{"key":"BF5201661_CR29","doi-asserted-by":"publisher","first-page":"145","DOI":"10.1136\/jmg.38.3.145","volume":"38","author":"BB de Vries","year":"2001","unstructured":"de Vries BB, White SM, Knight SJ et al: Clinical studies on submicroscopic subtelomeric rearrangements: a checklist. J Med Genet 2001; 38: 145\u2013150.","journal-title":"J Med Genet"},{"key":"BF5201661_CR30","doi-asserted-by":"publisher","first-page":"2243","DOI":"10.1093\/hmg\/11.19.2243","volume":"11","author":"H Jacquet","year":"2002","unstructured":"Jacquet H, Raux G, Thibaut F et al: PRODH mutations and hyperprolinemia in a subset of schizophrenic patients. Hum Mol Genet 2002; 11: 2243\u20132249.","journal-title":"Hum Mol Genet"},{"key":"BF5201661_CR31","doi-asserted-by":"publisher","first-page":"367","DOI":"10.1016\/S0092-8674(01)00447-0","volume":"106","author":"M Gratacos","year":"2001","unstructured":"Gratacos M, Nadal M, Martin-Santos R et al: A polymorphic genomic duplication on human chromosome 15 is a susceptibility factor for panic and phobic disorders. Cell 2001; 106: 367\u2013379.","journal-title":"Cell"},{"key":"BF5201661_CR32","doi-asserted-by":"publisher","first-page":"249","DOI":"10.1136\/jmg.2003.014308","volume":"41","author":"M Kriek","year":"2004","unstructured":"Kriek M, White SJ, Bouma MC et al: Genomic imbalances in mental retardation. J Med Genet 2004; 41: 249\u2013255.","journal-title":"J Med Genet"},{"issue":"Suppl","key":"BF5201661_CR33","first-page":"P975","volume":"73","author":"C Lese-Martin","year":"2004","unstructured":"Lese-Martin C, Chung J, Ilkin Y, Geschwind DH, Ledbetter DH : Molecular cytogenetic investigations of multiplex autism families confirm 15q11\u2013q13 duplications as a cause of autism [abstract]. Am J Hum Genet 2004; 73 (Suppl): P975.","journal-title":"Am J Hum Genet"},{"key":"BF5201661_CR34","doi-asserted-by":"crossref","first-page":"105","DOI":"10.1002\/ajmg.a.10042","volume":"117","author":"K Keller","year":"2003","unstructured":"Keller K, Williams C, Wharton P et al: Routine cytogenetic and FISH studies for 17p11\/15q11 duplications and subtelomeric rearrangement studies in children with autism spectrum disorders. Am J Med Genet A 2003; 117: 105\u2013111.","journal-title":"Am J Med Genet A"},{"key":"BF5201661_CR35","doi-asserted-by":"publisher","first-page":"259","DOI":"10.1002\/ajmg.a.30621","volume":"134","author":"BA Bejjani","year":"2005","unstructured":"Bejjani BA, Saleki R, Ballif BC et al: Use of targeted array-based CGH for the clinical diagnosis of chromosomal imbalance: is less more? Am J Med Genet 2005; 134: 259\u2013267.","journal-title":"Am J Med Genet"},{"key":"BF5201661_CR36","doi-asserted-by":"publisher","first-page":"477","DOI":"10.1002\/humu.20243","volume":"26","author":"EL Northrop","year":"2005","unstructured":"Northrop EL, Ren H, Bruno DL et al: Detection of cryptic subtelomeric chromosome abnormalities and identification of anonymous chromatin using a quantitative multiplex ligation-dependent probe amplification (MLPA) assay. Hum Mutat 2005; 26: 477\u2013486.","journal-title":"Hum Mutat"},{"key":"BF5201661_CR37","doi-asserted-by":"publisher","first-page":"154","DOI":"10.1038\/ng1097-154","volume":"17","author":"KS Chen","year":"1997","unstructured":"Chen KS, Manian P, Koeuth T et al: Homologous recombination of a flanking repeat gene cluster is a mechanism for a common contiguous gene deletion syndrome. Nat Genet 1997; 17: 154\u2013163.","journal-title":"Nat Genet"},{"key":"BF5201661_CR38","doi-asserted-by":"publisher","first-page":"1072","DOI":"10.1086\/344346","volume":"71","author":"CJ Shaw","year":"2002","unstructured":"Shaw CJ, Bi W, Lupski JR : Genetic proof of unequal meiotic crossovers in reciprocal deletion and duplication of 17p11.2. Am J Hum Genet 2002; 71: 1072\u20131081.","journal-title":"Am J Hum Genet"}],"container-title":["European Journal of Human Genetics"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/www.nature.com\/articles\/5201661.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/www.nature.com\/articles\/5201661","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/www.nature.com\/articles\/5201661.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2024,2,4]],"date-time":"2024-02-04T20:47:51Z","timestamp":1707079671000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.nature.com\/articles\/5201661"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2006,6,14]]},"references-count":38,"journal-issue":{"issue":"9","published-print":{"date-parts":[[2006,9]]}},"alternative-id":["BF5201661"],"URL":"https:\/\/doi.org\/10.1038\/sj.ejhg.5201661","relation":{},"ISSN":["1018-4813","1476-5438"],"issn-type":[{"value":"1018-4813","type":"print"},{"value":"1476-5438","type":"electronic"}],"subject":[],"published":{"date-parts":[[2006,6,14]]}}}