{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,7,26]],"date-time":"2025-07-26T09:23:47Z","timestamp":1753521827319},"reference-count":8,"publisher":"International Research and Cooperation Association for Bio & Socio-Sciences Advancement (IRCA-BSSA)","issue":"1","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["IRDR"],"published-print":{"date-parts":[[2017]]},"DOI":"10.5582\/irdr.2016.01075","type":"journal-article","created":{"date-parts":[[2016,12,4]],"date-time":"2016-12-04T22:07:30Z","timestamp":1480889250000},"page":"61-64","source":"Crossref","is-referenced-by-count":7,"title":["Microdeletion of chromosome 1q21.3 in fraternal twins is associated with mental retardation, microcephaly, and epilepsy"],"prefix":"10.5582","volume":"6","author":[{"given":"Fatma Mujgan","family":"Sonmez","sequence":"first","affiliation":[{"name":"Developmental Child Neurology Association"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Eyyup","family":"Uctepe","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics, Health Sciences University, Diskapi Yildirim Beyazit Training and Research Hospital"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Dilek","family":"Aktas","sequence":"additional","affiliation":[{"name":"Damagen Genetic Diagnostic Center"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Mehmet","family":"Alikasifoglu","sequence":"additional","affiliation":[{"name":"Damagen Genetic Diagnostic Center"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"3542","reference":[{"key":"1","doi-asserted-by":"crossref","unstructured":"1. Mefford HC, Eichler EE. Duplication hotspots, rare genomic disorders, and common disease. Curr Opin Genet Dev. 2009; 19:196-204.","DOI":"10.1016\/j.gde.2009.04.003"},{"key":"2","doi-asserted-by":"crossref","unstructured":"2. Slavotinek AM. Novel microdeletion syndromes detected by chromosome microarrays. Hum Genet. 2008; 124:1-17.","DOI":"10.1007\/s00439-008-0513-9"},{"key":"3","doi-asserted-by":"crossref","unstructured":"3. Reddy S, Dolzhanskaya N, Krogh J, Velinov M. A novel 1.4 Mb de novo microdeletion of chromosome 1q21.3 in a child with microcephaly, dysmorphic features and mental retardation. Eur J Med Genet. 2009; 52:443-445.","DOI":"10.1016\/j.ejmg.2009.09.003"},{"key":"4","doi-asserted-by":"crossref","unstructured":"4. Lo LJ, Noordhoff MS, Huang CS, Chen KT, Chen YR. Proximal deletion of the long arm of chromosome 1: [del(1) (q23-q25)]. Cleft Palate Craniofac J. 1993; 30:586-589.","DOI":"10.1597\/1545-1569(1993)030<0586:PDOTLA>2.3.CO;2"},{"key":"5","doi-asserted-by":"crossref","unstructured":"5. Pallotta R, Dalpra L, Miozzo M, Ehresmann T, Fusilli P. A patient defines the interstitial 1q deletion syndrome characterized by antithrombin III deficiency. Am J Med Genet. 2001; 104:282-286.","DOI":"10.1002\/ajmg.10068"},{"key":"6","doi-asserted-by":"crossref","unstructured":"6. Verdin H, D&apos;Haene B, Beysen D, Novikova Y, Menten B, Sante T, Lapunzina P, Nevado J, Carvalho CM, Lupski JR, De Baere E. Microhomology-mediated mechanisms underlie non-recurrent disease-causing microdeletions of the FOXL2 gene or its regulatory domain. PLoS Genet. 2013; 9:e1003358.","DOI":"10.1371\/journal.pgen.1003358"},{"key":"7","doi-asserted-by":"crossref","unstructured":"7. Sasaki M, Lange J, Keeney S. Genome destabilization by homologous recombination in the germ line. Nat Rev Mol Cell Biol. 2010; 11:182-195.","DOI":"10.1038\/nrm2849"},{"key":"8","doi-asserted-by":"crossref","unstructured":"8. Muhle H, Steinich I, von Spiczak S, et al. A duplication in 1q21.3 in a family with early onset and childhood absence epilepsy. Epilepsia. 2010; 51:2453-2456.","DOI":"10.1111\/j.1528-1167.2010.02712.x"}],"container-title":["Intractable &amp; Rare Diseases Research"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.jstage.jst.go.jp\/article\/irdr\/6\/1\/6_2016.01075\/_pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2017,6,25]],"date-time":"2017-06-25T05:12:41Z","timestamp":1498367561000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.jstage.jst.go.jp\/article\/irdr\/6\/1\/6_2016.01075\/_article"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2017]]},"references-count":8,"journal-issue":{"issue":"1","published-print":{"date-parts":[[2017]]}},"URL":"https:\/\/doi.org\/10.5582\/irdr.2016.01075","relation":{},"ISSN":["2186-361X","2186-3644"],"issn-type":[{"value":"2186-361X","type":"electronic"},{"value":"2186-3644","type":"print"}],"subject":[],"published":{"date-parts":[[2017]]}}}