{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,8]],"date-time":"2026-10-08T22:39:34Z","timestamp":1791499174323,"version":"4.3.4"},"reference-count":25,"publisher":"Springer Science and Business Media LLC","issue":"1","license":[{"start":{"date-parts":[[2011,7,29]],"date-time":"2011-07-29T00:00:00Z","timestamp":1311897600000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/www.springer.com\/tdm"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Hum Genet"],"published-print":{"date-parts":[[2012,1]]},"DOI":"10.1007\/s00439-011-1073-y","type":"journal-article","created":{"date-parts":[[2011,7,28]],"date-time":"2011-07-28T02:46:33Z","timestamp":1311821193000},"page":"145-156","source":"Crossref","is-referenced-by-count":105,"title":["High-resolution array CGH defines critical regions and candidate genes for microcephaly, abnormalities of the corpus callosum, and seizure phenotypes in patients with microdeletions of 1q43q44"],"prefix":"10.1007","volume":"131","author":[{"given":"Blake C.","family":"Ballif","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jill A.","family":"Rosenfeld","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ryan","family":"Traylor","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Aaron","family":"Theisen","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Patricia I.","family":"Bader","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Roger L.","family":"Ladda","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Susan L.","family":"Sell","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Michelle","family":"Steinraths","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Urvashi","family":"Surti","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marianne","family":"McGuire","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Shelley","family":"Williams","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sandra A.","family":"Farrell","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"James","family":"Filiano","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Rhonda E.","family":"Schnur","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lauren B.","family":"Coffey","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Raymond C.","family":"Tervo","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tracy","family":"Stroud","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Michael","family":"Marble","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Michael","family":"Netzloff","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kristen","family":"Hanson","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Arthur S.","family":"Aylsworth","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"J. S.","family":"Bamforth","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Deepti","family":"Babu","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Dmitriy M.","family":"Niyazov","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"J. Britt","family":"Ravnan","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Roger A.","family":"Schultz","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Allen N.","family":"Lamb","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Beth S.","family":"Torchia","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Bassem A.","family":"Bejjani","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lisa G.","family":"Shaffer","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2011,7,29]]},"reference":[{"key":"1073_CR1","doi-asserted-by":"crossref","first-page":"469","DOI":"10.1111\/j.1399-0004.2008.01094.x","volume":"74","author":"BC Ballif","year":"2008","unstructured":"Ballif BC, Theisen A, McDonald-McGinn DM, Zackai EH, Hersh JH, Bejjani BA, Shaffer LG (2008) Identification of a previously unrecognized microdeletion syndrome of 16q11.2q12.2. Clin Genet 74:469\u2013475","journal-title":"Clin Genet"},{"key":"1073_CR2","doi-asserted-by":"crossref","first-page":"287","DOI":"10.1007\/s003359900414","volume":"8","author":"KG Becker","year":"1997","unstructured":"Becker KG, Canning RD, Nagle JW, Dehejia AM, Polymeropoulos MH, Lee IJ, Gado AM, Biddison WE, Drew PD (1997) Molecular cloning and mapping of a novel developmentally regulated human C2H2-type zinc finger. Mamm Genome 8:287\u2013289","journal-title":"Mamm Genome"},{"key":"1073_CR3","doi-asserted-by":"crossref","first-page":"268","DOI":"10.4161\/cbt.3.3.703","volume":"3","author":"A Bellacosa","year":"2004","unstructured":"Bellacosa A, Testa JR, Moore R, Larue L (2004) A portrait of AKT kinases: human cancer and animal models depict a family with strong individualities. Cancer Biol Ther 3:268\u2013275","journal-title":"Cancer Biol Ther"},{"key":"1073_CR4","doi-asserted-by":"crossref","first-page":"292","DOI":"10.1086\/519999","volume":"81","author":"E Boland","year":"2007","unstructured":"Boland E, Clayton-Smith J, Woo VG, McKee S, Manson FD, Medne L, Zackai E, Swanson EA, Fitzpatrick D, Millen KJ, Sherr EH, Dobyns WB, Black GC (2007) Mapping of deletion and translocation breakpoints in 1q44 implicates the serine\/threonine kinase AKT3 in postnatal microcephaly and agenesis of the corpus callosum. Am J Hum Genet 81:292\u2013303","journal-title":"Am J Hum Genet"},{"key":"1073_CR5","doi-asserted-by":"crossref","first-page":"9133","DOI":"10.1074\/jbc.274.14.9133","volume":"274","author":"D Brodbeck","year":"1999","unstructured":"Brodbeck D, Cron P, Hemmings BA (1999) A human protein kinase Bgamma with regulatory phosphorylation sites in the activation loop and in the C-terminal hydrophobic domain. J Biol Chem 274:9133\u20139136","journal-title":"J Biol Chem"},{"key":"1073_CR6","doi-asserted-by":"crossref","first-page":"179","DOI":"10.1016\/j.ejmg.2010.04.001","volume":"53","author":"A Caliebe","year":"2010","unstructured":"Caliebe A, Kroes HY, van der Smagt JJ, Martin-Subero JI, Tonnies H, Van\u2019t Slot R, Nievelstein RA, Muhle H, Stephani U, Alfke K, Stefanova I, Hellenbroich Y, Gillessen-Kaesbach G, Hochstenbach R, Siebert R, Poot M (2010) Four patients with speech delay, seizures and variable corpus callosum thickness sharing a 0.440\u00a0Mb deletion in region 1q44 containing the HNRPU gene. Eur J Med Genet 53:179\u2013185","journal-title":"Eur J Med Genet"},{"key":"1073_CR7","doi-asserted-by":"crossref","first-page":"255","DOI":"10.1007\/s00431-005-1620-4","volume":"164","author":"G Rosa De","year":"2005","unstructured":"De Rosa G, Pardeo M, Bria S, Caresta E, Vasta I, Zampino G, Zollino M, Zuppa AA, Piastra M (2005) Isolated myocardial non-compaction in an infant with distal 4q trisomy and distal 1q monosomy. Eur J Pediatr 164:255\u2013256","journal-title":"Eur J Pediatr"},{"issue":"11","key":"1073_CR8","doi-asserted-by":"crossref","first-page":"1196","DOI":"10.1038\/ejhg.2010.102","volume":"18","author":"AL Duker","year":"2010","unstructured":"Duker AL, Ballif BC, Bawle EV, Person RE, Mahadevan S, Alliman S, Thompson R, Traylor R, Bejjani BA, Shaffer LG, Rosenfeld JA, Lamb AN, Sahoo T (2010) Paternally inherited microdeletion at 15q11.2 confirms a significant role for the SNORD116 C\/D box snoRNA cluster in Prader\u2013Willi syndrome. Eur J Hum Genet 18(11):1196\u20131201","journal-title":"Eur J Hum Genet"},{"key":"1073_CR9","doi-asserted-by":"crossref","first-page":"1869","DOI":"10.1128\/MCB.25.5.1869-1878.2005","volume":"25","author":"RM Easton","year":"2005","unstructured":"Easton RM, Cho H, Roovers K, Shineman DW, Mizrahi M, Forman MS, Lee VM, Szabolcs M, de Jong R, Oltersdorf T, Ludwig T, Efstratiadis A, Birnbaum MJ (2005) Role for Akt3\/protein kinase Bgamma in attainment of normal brain size. Mol Cell Biol 25:1869\u20131878","journal-title":"Mol Cell Biol"},{"key":"1073_CR10","doi-asserted-by":"crossref","first-page":"251","DOI":"10.1002\/ajmg.a.10018","volume":"117A","author":"M Gentile","year":"2003","unstructured":"Gentile M, Di Carlo A, Volpe P, Pansini A, Nanna P, Valenzano MC, Buonadonna AL (2003) FISH and cytogenetic characterization of a terminal chromosome 1q deletion: clinical case report and phenotypic implications. Am J Med Genet A 117A:251\u2013254","journal-title":"Am J Med Genet A"},{"key":"1073_CR11","doi-asserted-by":"crossref","first-page":"396","DOI":"10.1002\/(SICI)1096-8628(19981204)80:4<396::AID-AJMG17>3.0.CO;2-#","volume":"80","author":"EH Hathout","year":"1998","unstructured":"Hathout EH, Thompson K, Baum M, Dumars KW (1998) Association of terminal chromosome 1 deletion with sertoli-cell-only syndrome. Am J Med Genet 80:396\u2013398","journal-title":"Am J Med Genet"},{"key":"1073_CR12","doi-asserted-by":"crossref","first-page":"1692","DOI":"10.1002\/ajmg.a.31776","volume":"143A","author":"AD Hill","year":"2007","unstructured":"Hill AD, Chang BS, Hill RS, Garraway LA, Bodell A, Sellers WR, Walsh CA (2007) A 2-Mb critical region implicated in the microcephaly associated with terminal 1q deletion syndrome. Am J Med Genet A 143A:1692\u20131698","journal-title":"Am J Med Genet A"},{"key":"1073_CR13","doi-asserted-by":"crossref","first-page":"e1001154","DOI":"10.1371\/journal.pgen.1001154","volume":"6","author":"N Huang","year":"2010","unstructured":"Huang N, Lee I, Marcotte EM, Hurles ME (2010) Characterising and predicting haploinsufficiency in the human genome. PLoS Genet 6:e1001154","journal-title":"PLoS Genet"},{"key":"1073_CR14","first-page":"131","volume":"12","author":"CB Mankinen","year":"1976","unstructured":"Mankinen CB, Sears JW, Alvarez VR (1976) Terminal (1)(q43) long-arm deletion of chromosome no. 1 in a three-year-old female. Birth Defects Orig Artic Ser 12:131\u2013136","journal-title":"Birth Defects Orig Artic Ser"},{"key":"1073_CR15","doi-asserted-by":"crossref","first-page":"1098","DOI":"10.1002\/cne.21350","volume":"502","author":"C Ohtaka-Maruyama","year":"2007","unstructured":"Ohtaka-Maruyama C, Miwa A, Kawano H, Kasai M, Okado H (2007) Spatial and temporal expression of RP58, a novel zinc finger transcriptional repressor, in mouse brain. J Comp Neurol 502:1098\u20131108","journal-title":"J Comp Neurol"},{"key":"1073_CR16","doi-asserted-by":"crossref","first-page":"5","DOI":"10.1159\/000279261","volume":"127","author":"C Orellana","year":"2009","unstructured":"Orellana C, Rosello M, Monfort S, Oltra S, Quiroga R, Ferrer I, Martinez F (2009) Corpus callosum abnormalities and the controversy about the candidate genes located in 1q44. Cytogenet Genome Res 127:5\u20138","journal-title":"Cytogenet Genome Res"},{"key":"1073_CR17","doi-asserted-by":"crossref","first-page":"93","DOI":"10.1016\/j.biochi.2007.07.022","volume":"90","author":"A Ottaviani","year":"2008","unstructured":"Ottaviani A, Gilson E, Magdinier F (2008) Telomeric position effect: from the yeast paradigm to human pathologies? Biochimie 90:93\u2013107","journal-title":"Biochimie"},{"key":"1073_CR18","doi-asserted-by":"crossref","first-page":"1038","DOI":"10.1002\/ajmg.a.31690","volume":"143A","author":"M Poot","year":"2007","unstructured":"Poot M, Kroes HY, SE VDW, Eleveld MJ, Rooms L, Nievelstein RA, Olde Weghuis D, Vreuls RC, Hageman G, Kooy F, Hochstenbach R (2007) Dandy-Walker complex in a boy with a 5\u00a0Mb deletion of region 1q44 due to a paternal t(1;20)(q44;q13.33). Am J Med Genet A 143A:1038\u20131044","journal-title":"Am J Med Genet A"},{"key":"1073_CR19","doi-asserted-by":"crossref","first-page":"68","DOI":"10.1002\/ajmg.a.30888","volume":"138","author":"MJ Puthuran","year":"2005","unstructured":"Puthuran MJ, Rowland-Hill CA, Simpson J, Pairaudeau PW, Mabbott JL, Morris SM, Crow YJ (2005) Chromosome 1q42 deletion and agenesis of the corpus callosum. Am J Med Genet A 138:68\u201369","journal-title":"Am J Med Genet A"},{"key":"1073_CR20","doi-asserted-by":"crossref","first-page":"179","DOI":"10.1007\/s11248-004-8147-8","volume":"14","author":"MJ Roshon","year":"2005","unstructured":"Roshon MJ, Ruley HE (2005) Hypomorphic mutation in hnRNP U results in post-implantation lethality. Transgenic Res 14:179\u2013192","journal-title":"Transgenic Res"},{"key":"1073_CR21","doi-asserted-by":"crossref","first-page":"17","DOI":"10.1186\/1755-8166-2-17","volume":"2","author":"RN Traylor","year":"2009","unstructured":"Traylor RN, Fan Z, Hudson B, Rosenfeld JA, Shaffer LG, Torchia BS, Ballif BC (2009) Microdeletion of 6q16.1 encompassing EPHA7 in a child with mild neurological abnormalities and dysmorphic features: case report. Mol Cytogenet 2:17","journal-title":"Mol Cytogenet"},{"key":"1073_CR22","doi-asserted-by":"crossref","first-page":"91","DOI":"10.1002\/ajmg.a.30695","volume":"135","author":"Y Bever van","year":"2005","unstructured":"van Bever Y, Rooms L, Laridon A, Reyniers E, van Luijk R, Scheers S, Wauters J, Kooy RF (2005) Clinical report of a pure subtelomeric 1qter deletion in a boy with mental retardation and multiple anomalies adds further evidence for a specific phenotype. Am J Med Genet A 135:91\u201395","journal-title":"Am J Med Genet A"},{"key":"1073_CR23","doi-asserted-by":"crossref","first-page":"346","DOI":"10.1136\/jmg.2007.055830","volume":"45","author":"BW Bon van","year":"2008","unstructured":"van Bon BW, Koolen DA, Borgatti R, Magee A, Garcia-Minaur S, Rooms L, Reardon W, Zollino M, Bonaglia MC, De Gregori M, Novara F, Grasso R, Ciccone R, van Duyvenvoorde HA, Aalbers AM, Guerrini R, Fazzi E, Nillesen WM, McCullough S, Kant SG, Marcelis CL, Pfundt R, de Leeuw N, Smeets D, Sistermans EA, Wit JM, Hamel BC, Brunner HG, Kooy F, Zuffardi O, de Vries BB (2008) Clinical and molecular characteristics of 1qter microdeletion syndrome: delineating a critical region for corpus callosum agenesis\/hypogenesis. J Med Genet 45:346\u2013354","journal-title":"J Med Genet"},{"key":"1073_CR24","doi-asserted-by":"crossref","first-page":"65","DOI":"10.1002\/ajmg.10207","volume":"110","author":"CD Karnebeek van","year":"2002","unstructured":"van Karnebeek CD, Quik S, Sluijter S, Hulsbeek MM, Hoovers JM, Hennekam RC (2002) Further delineation of the chromosome 14q terminal deletion syndrome. Am J Med Genet 110:65\u201372","journal-title":"Am J Med Genet"},{"key":"1073_CR25","doi-asserted-by":"crossref","first-page":"65","DOI":"10.1002\/ajmg.a.10068","volume":"117A","author":"M Zollino","year":"2003","unstructured":"Zollino M, Colosimo C, Zuffardi O, Rossi E, Tosolini A, Walsh CA, Neri G (2003) Cryptic t(1;12)(q44;p13.3) translocation in a previously described syndrome with polymicrogyria, segregating as an apparently X-linked trait. Am J Med Genet A 117A:65\u201371","journal-title":"Am J Med Genet A"}],"container-title":["Human Genetics"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/link.springer.com\/content\/pdf\/10.1007\/s00439-011-1073-y.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/link.springer.com\/article\/10.1007\/s00439-011-1073-y\/fulltext.html","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/link.springer.com\/content\/pdf\/10.1007\/s00439-011-1073-y","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2019,5,28]],"date-time":"2019-05-28T19:31:10Z","timestamp":1559071870000},"score":1,"resource":{"primary":{"URL":"http:\/\/link.springer.com\/10.1007\/s00439-011-1073-y"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2011,7,29]]},"references-count":25,"journal-issue":{"issue":"1","published-print":{"date-parts":[[2012,1]]}},"alternative-id":["1073"],"URL":"https:\/\/doi.org\/10.1007\/s00439-011-1073-y","relation":{},"ISSN":["0340-6717","1432-1203"],"issn-type":[{"value":"0340-6717","type":"print"},{"value":"1432-1203","type":"electronic"}],"subject":[],"published":{"date-parts":[[2011,7,29]]}}}