{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,29]],"date-time":"2025-10-29T06:06:46Z","timestamp":1761718006932},"reference-count":28,"publisher":"Springer Science and Business Media LLC","issue":"2","license":[{"start":{"date-parts":[[2006,11,22]],"date-time":"2006-11-22T00:00:00Z","timestamp":1164153600000},"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":[[2007,2]]},"DOI":"10.1038\/sj.ejhg.5201738","type":"journal-article","created":{"date-parts":[[2006,11,22]],"date-time":"2006-11-22T05:39:43Z","timestamp":1164173983000},"page":"162-172","source":"Crossref","is-referenced-by-count":11,"title":["Detection of small genomic imbalances using microarray-based multiplex amplifiable probe hybridization"],"prefix":"10.1038","volume":"15","author":[{"given":"Philippos C","family":"Patsalis","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ludmila","family":"Kousoulidou","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Katrin","family":"M\u00e4nnik","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Carolina","family":"Sismani","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Olga","family":"\u017dilina","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Sven","family":"Parkel","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Helen","family":"Puusepp","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Neeme","family":"T\u00f5nisson","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Priit","family":"Palta","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Maido","family":"Remm","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ants","family":"Kurg","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"297","published-online":{"date-parts":[[2006,11,22]]},"reference":[{"key":"BF5201738_CR1","unstructured":"Test and Technology Transfer Committee: Technical and clinical assessment of fluorescence in situ hybridization: an ACMG\/ASHG position statement. I. Technical considerations. Genet Med 2000; 2: 356\u2013361."},{"key":"BF5201738_CR2","doi-asserted-by":"publisher","first-page":"647","DOI":"10.1038\/sj.ejhg.5201211","volume":"12","author":"PC Patsalis","year":"2004","unstructured":"Patsalis PC, Evangelidou P, Charalambous S, Sismani C : Fluorescence in situ hybridization characterization of apparently balanced translocation reveals cryptic complex chromosomal rearrangements with unexpected level of complexity. Eur J Hum Genet 2004; 12: 647\u2013653.","journal-title":"Eur J Hum Genet"},{"key":"BF5201738_CR3","doi-asserted-by":"publisher","first-page":"401","DOI":"10.1136\/jmg.37.6.401","volume":"37","author":"SJ Knight","year":"2000","unstructured":"Knight SJ, Flint J : Perfect endings: a review of subtelomeric probes and their use in clinical diagnosis. J Med Genet 2000; 37: 401\u2013409.","journal-title":"J Med Genet"},{"key":"BF5201738_CR4","doi-asserted-by":"publisher","first-page":"818","DOI":"10.1126\/science.1359641","volume":"258","author":"A Kallioniemi","year":"1992","unstructured":"Kallioniemi A, Kallioniemi OP, Sudar D et al: Comparative genomic hybridization for molecular cytogenetic analysis of solid tumors. Science 1992; 258: 818\u2013821.","journal-title":"Science"},{"key":"BF5201738_CR5","doi-asserted-by":"publisher","first-page":"207","DOI":"10.1038\/2524","volume":"20","author":"D Pinkel","year":"1998","unstructured":"Pinkel D, Segraves R, Sudar D et al: High resolution analysis of DNA copy number variation using comparative genomic hybridization to microarrays. Nat Genet 1998; 20: 207\u2013211.","journal-title":"Nat Genet"},{"key":"BF5201738_CR6","doi-asserted-by":"publisher","first-page":"41","DOI":"10.1038\/12640","volume":"23","author":"JR Pollack","year":"1999","unstructured":"Pollack JR, Perou CM, Alizadeh AA et al: Genome-wide analysis of DNA copy-number changes using cDNA microarrays. Nat Genet 1999; 23: 41\u201346.","journal-title":"Nat Genet"},{"key":"BF5201738_CR7","doi-asserted-by":"publisher","first-page":"399","DOI":"10.1002\/(SICI)1098-2264(199712)20:4<399::AID-GCC12>3.0.CO;2-I","volume":"20","author":"S Solinas-Toldo","year":"1997","unstructured":"Solinas-Toldo S, Lampel S, Stilgenbauer S et al: Matrix-based comparative genomic hybridization: biochips to screen for genomic imbalances. Genes Chromosomes Cancer 1997; 20: 399\u2013407.","journal-title":"Genes Chromosomes Cancer"},{"key":"BF5201738_CR8","doi-asserted-by":"publisher","first-page":"263","DOI":"10.1038\/ng754","volume":"29","author":"AM Snijders","year":"2001","unstructured":"Snijders AM, Nowak N, Segraves R et al: Assembly of microarrays for genome-wide measurement of DNA copy number. Nat Genet 2001; 29: 263\u2013264.","journal-title":"Nat Genet"},{"key":"BF5201738_CR9","doi-asserted-by":"publisher","first-page":"1726","DOI":"10.1101\/gr.138300","volume":"10","author":"R Lucito","year":"2000","unstructured":"Lucito R, West J, Reiner A et al: Detecting gene copy number fluctuations in tumor cells by microarray analysis of genomic representations. Genome Res 2000; 10: 1726\u20131736.","journal-title":"Genome Res"},{"key":"BF5201738_CR10","doi-asserted-by":"publisher","first-page":"2291","DOI":"10.1101\/gr.1349003","volume":"13","author":"R Lucito","year":"2003","unstructured":"Lucito R, Healy J, Alexander J et al: Representational oligonucleotide microarray analysis: a high-resolution method to detect genome copy number variation. Genome Res 2003; 13: 2291\u20132305.","journal-title":"Genome Res"},{"key":"BF5201738_CR11","doi-asserted-by":"publisher","first-page":"3060","DOI":"10.1158\/0008-5472.CAN-03-3308","volume":"64","author":"X Zhao","year":"2004","unstructured":"Zhao X, Li C, Paez JG et al: An integrated view of copy number and allelic alterations in the cancer genome using single nucleotide polymorphism arrays. Cancer Res 2004; 64: 3060\u20133071.","journal-title":"Cancer Res"},{"key":"BF5201738_CR12","doi-asserted-by":"publisher","first-page":"287","DOI":"10.1186\/1479-7364-1-4-287","volume":"1","author":"J Huang","year":"2004","unstructured":"Huang J, Wei W, Zhang J et al: Whole genome DNA copy number changes identified by high density oligonucleotide arrays. Hum Genomics 2004; 1: 287\u2013299.","journal-title":"Hum Genomics"},{"key":"BF5201738_CR13","doi-asserted-by":"publisher","first-page":"305","DOI":"10.1002\/gcc.20243","volume":"44","author":"RR Selzer","year":"2005","unstructured":"Selzer RR, Richmond TA, Pofahl NJ et al: Analysis of chromosome breakpoints in neuroblastoma at sub-kilobase resolution using fine-tiling oligonucleotide array CGH. Genes Chromosomes Cancer 2005; 44: 305\u2013319.","journal-title":"Genes Chromosomes Cancer"},{"key":"BF5201738_CR14","doi-asserted-by":"publisher","first-page":"299","DOI":"10.1038\/ng1307","volume":"36","author":"AS Ishkanian","year":"2004","unstructured":"Ishkanian AS, Malloff CA, Watson SK et al: A tiling resolution DNA microarray with complete coverage of the human genome. Nat Genet 2004; 36: 299\u2013303.","journal-title":"Nat Genet"},{"key":"BF5201738_CR15","doi-asserted-by":"publisher","first-page":"605","DOI":"10.1093\/nar\/28.2.605","volume":"28","author":"JA Armour","year":"2000","unstructured":"Armour JA, Sismani C, Patsalis PC, Cross G : Measurement of locus copy number by hybridisation with amplifiable probes. Nucleic Acids Res 2000; 28: 605\u2013609.","journal-title":"Nucleic Acids Res"},{"key":"BF5201738_CR16","doi-asserted-by":"publisher","first-page":"370","DOI":"10.1586\/14737159.2.4.370","volume":"2","author":"EJ Hollox","year":"2002","unstructured":"Hollox EJ, Akrami SM, Armour JA : DNA copy number analysis by MAPH: molecular diagnostic applications. Expert Rev Mol Diagn 2002; 2: 370\u2013378.","journal-title":"Expert Rev Mol Diagn"},{"key":"BF5201738_CR17","doi-asserted-by":"publisher","first-page":"241","DOI":"10.1016\/j.ejmg.2005.04.011","volume":"48","author":"PC Patsalis","year":"2005","unstructured":"Patsalis PC, Kousoulidou L, Sismani C, Mannik K, Kurg A : MAPH: from gels to microarrays. Eur J Med Genet 2005; 48: 241\u2013249.","journal-title":"Eur J Med Genet"},{"key":"BF5201738_CR18","doi-asserted-by":"publisher","first-page":"3389","DOI":"10.1093\/nar\/25.17.3389","volume":"25","author":"SF Altschul","year":"1997","unstructured":"Altschul SF, Madden TL, Schaffer AA et al: Gapped BLAST and PSI-BLAST: a new generation of protein database search programs. Nucleic Acids Res 1997; 25: 3389\u20133402.","journal-title":"Nucleic Acids Res"},{"key":"BF5201738_CR19","first-page":"365","volume":"132","author":"S Rozen","year":"2000","unstructured":"Rozen S, Skaletsky H : Primer3 on the WWW for general users and for biologist programmers. Methods Mol Biol 2000; 132: 365\u2013386.","journal-title":"Methods Mol Biol"},{"key":"BF5201738_CR20","doi-asserted-by":"publisher","first-page":"393","DOI":"10.1038\/nbt0402-393","volume":"20","author":"WW Cai","year":"2002","unstructured":"Cai WW, Mao JH, Chow CW, Damani S, Balmain A, Bradley A : Genome-wide detection of chromosomal imbalances in tumors using BAC microarrays. Nat Biotechnol 2002; 20: 393\u2013396.","journal-title":"Nat Biotechnol"},{"key":"BF5201738_CR21","doi-asserted-by":"publisher","first-page":"17765","DOI":"10.1073\/pnas.0407979101","volume":"101","author":"MT Barrett","year":"2004","unstructured":"Barrett MT, Scheffer A, Ben-Dor A et al: Comparative genomic hybridization using oligonucleotide microarrays and total genomic DNA. Proc Natl Acad Sci USA 2004; 101: 17765\u201317770.","journal-title":"Proc Natl Acad Sci USA"},{"key":"BF5201738_CR22","doi-asserted-by":"publisher","first-page":"443","DOI":"10.1007\/s00109-003-0458-3","volume":"81","author":"KK Mantripragada","year":"2003","unstructured":"Mantripragada KK, Buckley PG, Jarbo C, Menzel U, Dumanski JP : Development of NF2 gene specific, strictly sequence defined diagnostic microarray for deletion detection. J Mol Med 2003; 81: 443\u2013451.","journal-title":"J Mol Med"},{"key":"BF5201738_CR23","doi-asserted-by":"publisher","first-page":"28","DOI":"10.1136\/jmg.2005.033795","volume":"43","author":"KK Mantripragada","year":"2006","unstructured":"Mantripragada KK, Thuresson AC, Piotrowski A et al: Identification of novel deletion breakpoints bordered by segmental duplications in the NF1 locus using high resolution array-CGH. J Med Genet 2006; 43: 28\u201338.","journal-title":"J Med Genet"},{"key":"BF5201738_CR24","first-page":"273","volume":"13","author":"KK Mantripragada","year":"2004","unstructured":"Mantripragada KK, Tapia-Paez I, Blennow E, Nilsson P, Wedell A, Dumanski JP : DNA copy-number analysis of the 22q11 deletion-syndrome region using array-CGH with genomic and PCR-based targets. Int J Mol Med 2004; 13: 273\u2013279.","journal-title":"Int J Mol Med"},{"key":"BF5201738_CR25","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":"BF5201738_CR26","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":"BF5201738_CR27","doi-asserted-by":"publisher","first-page":"4487","DOI":"10.1073\/pnas.95.8.4487","volume":"95","author":"R Lucito","year":"1998","unstructured":"Lucito R, Nakimura M, West JA et al: Genetic analysis using genomic representations. Proc Natl Acad Sci USA 1998; 95: 4487\u20134492.","journal-title":"Proc Natl Acad Sci USA"},{"key":"BF5201738_CR28","doi-asserted-by":"publisher","first-page":"1233","DOI":"10.1038\/nbt869","volume":"21","author":"GC Kennedy","year":"2003","unstructured":"Kennedy GC, Matsuzaki H, Dong S et al: Large-scale genotyping of complex DNA. Nat Biotechnol 2003; 21: 1233\u20131237.","journal-title":"Nat Biotechnol"}],"container-title":["European Journal of Human Genetics"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/www.nature.com\/articles\/5201738.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/www.nature.com\/articles\/5201738","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/www.nature.com\/articles\/5201738.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,5,18]],"date-time":"2023-05-18T01:37:35Z","timestamp":1684373855000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.nature.com\/articles\/5201738"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2006,11,22]]},"references-count":28,"journal-issue":{"issue":"2","published-print":{"date-parts":[[2007,2]]}},"alternative-id":["BF5201738"],"URL":"https:\/\/doi.org\/10.1038\/sj.ejhg.5201738","relation":{},"ISSN":["1018-4813","1476-5438"],"issn-type":[{"value":"1018-4813","type":"print"},{"value":"1476-5438","type":"electronic"}],"subject":[],"published":{"date-parts":[[2006,11,22]]}}}