{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,8]],"date-time":"2026-10-08T21:28:38Z","timestamp":1791494918562,"version":"4.3.4"},"reference-count":25,"publisher":"Springer Science and Business Media LLC","issue":"4","license":[{"start":{"date-parts":[[2008,10,15]],"date-time":"2008-10-15T00:00:00Z","timestamp":1224028800000},"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":[[2009,4]]},"DOI":"10.1038\/ejhg.2008.192","type":"journal-article","created":{"date-parts":[[2008,10,15]],"date-time":"2008-10-15T10:25:26Z","timestamp":1224066326000},"page":"434-443","source":"Crossref","is-referenced-by-count":91,"title":["Xq28 duplication presenting with intestinal and bladder dysfunction and a distinctive facial appearance"],"prefix":"10.1038","volume":"17","author":[{"given":"Jill","family":"Clayton-Smith","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sarah","family":"Walters","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Emma","family":"Hobson","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Emma","family":"Burkitt-Wright","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Rupert","family":"Smith","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Annick","family":"Toutain","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jeanne","family":"Amiel","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Stanislas","family":"Lyonnet","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sahar","family":"Mansour","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"David","family":"Fitzpatrick","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Roberto","family":"Ciccone","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ivana","family":"Ricca","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Orsetta","family":"Zuffardi","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Dian","family":"Donnai","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2008,10,15]]},"reference":[{"key":"BFejhg2008192_CR1","doi-asserted-by":"publisher","first-page":"e12","DOI":"10.1136\/jmg.2004.023804","volume":"42","author":"M Meins","year":"2005","unstructured":"Meins M, Lehmann J, Gerresheim F et al: Submicroscopic duplication in Xq28 causes increased expression of the MECP2 gene in a boy with severe mental retardation and features of Rett syndrome. J Med Genet 2005; 42: e12.","journal-title":"J Med Genet"},{"key":"BFejhg2008192_CR2","doi-asserted-by":"publisher","first-page":"442","DOI":"10.1086\/444549","volume":"77","author":"H Van Esch","year":"2005","unstructured":"Van Esch H, Bauters M, Ignatius J et al: Duplication of the MECP2 Region is a frequent cause of severe mental retardation and progressive neurological symptoms in males. Am J Hum Genet 2005; 77: 442\u2013453.","journal-title":"Am J Hum Genet"},{"key":"BFejhg2008192_CR3","doi-asserted-by":"publisher","first-page":"579","DOI":"10.1038\/sj.ejhg.5201384","volume":"13","author":"D Sanlaville","year":"2005","unstructured":"Sanlaville D, Prieur M, de Blois M-C et al: Functional disomy of the Xq28 chromosome region. Eur J Hum Genet 2005; 13: 579\u2013585.","journal-title":"Eur J Hum Genet"},{"key":"BFejhg2008192_CR4","doi-asserted-by":"publisher","first-page":"799","DOI":"10.1002\/ajmg.b.30683","volume":"147B","author":"M Smyk","year":"2008","unstructured":"Smyk M, Obersztyn E, Nowakowska B et al: Different-sized duplications of Xq28, including MECP2, in three males with mental retardation, absent or delayed speech, and recurrent infections. Am J Med Genet B Neuropsychiatr Genet 2008; 147B: 799\u2013806.","journal-title":"Am J Med Genet B Neuropsychiatr Genet"},{"key":"BFejhg2008192_CR5","doi-asserted-by":"publisher","first-page":"e1687","DOI":"10.1542\/peds.2006-0395","volume":"118","author":"MJ Friez","year":"2006","unstructured":"Friez MJ, Jones JR, Clarkson K et al: Recurrent infections, hypotonia, and mental retardation caused by duplication of MECP2 and adjacent region in Xq28. Pediatrics 2006; 118: e1687\u2013e1695.","journal-title":"Pediatrics"},{"key":"BFejhg2008192_CR6","doi-asserted-by":"publisher","first-page":"362","DOI":"10.1136\/jmg.2005.036178","volume":"43","author":"D Lugtenberg","year":"2006","unstructured":"Lugtenberg D, de Brouwer APM, Kleefstra T et al: Chromosomal copy number changes in patients with non-syndromic X linked mental retardation detected by array CGH. J Med Genet 2006; 43: 362\u2013370.","journal-title":"J Med Genet"},{"key":"BFejhg2008192_CR7","doi-asserted-by":"publisher","first-page":"784","DOI":"10.1097\/01.gim.0000250502.28516.3c","volume":"8","author":"D del Gaudio","year":"2006","unstructured":"del Gaudio D, Fang P, Scaglia F et al: Increased MECP2 gene copy number as the result of genomic duplication in neurodevelopmentally delayed males. Genet Med 2006; 8: 784\u2013792.","journal-title":"Genet Med"},{"key":"BFejhg2008192_CR8","doi-asserted-by":"publisher","first-page":"399","DOI":"10.1007\/s00439-004-1175-x","volume":"115","author":"KL Lachlan","year":"2004","unstructured":"Lachlan KL, Collinson MN, Sandford ROC, van Zyl B, Jacobs PA, Thomas NS : Functional disomy resulting from duplications of distal Xq in four unrelated patients. Hum Genet 2004; 115: 399\u2013408.","journal-title":"Hum Genet"},{"key":"BFejhg2008192_CR9","doi-asserted-by":"publisher","first-page":"141","DOI":"10.1097\/00019605-200104000-00012","volume":"10","author":"EJ Lammer","year":"2001","unstructured":"Lammer EJ, Punglia DR, Fuchs AE, Rowe AG, Cotter PD : Inherited duplication of Xq27.2 \u2192 qter: phenocopy of infantile Prader\u2013Willi syndrome. Clin Dysmorphol 2001; 10: 141\u2013144.","journal-title":"Clin Dysmorphol"},{"key":"BFejhg2008192_CR10","doi-asserted-by":"publisher","first-page":"165","DOI":"10.1002\/ajmg.a.30088","volume":"128A","author":"A Novelli","year":"2004","unstructured":"Novelli A, Bernardini L, Salpietro DC et al: Disomy of distal Xq in males. Am J Med Genet A 2004; 128A: 165\u2013169.","journal-title":"Am J Med Genet A"},{"key":"BFejhg2008192_CR11","doi-asserted-by":"publisher","first-page":"751","DOI":"10.1086\/513321","volume":"80","author":"A Gargiulo","year":"2007","unstructured":"Gargiulo A, Auricchio R, Barone MV et al: Filamin A is mutated in X-linked chronic idiopathic intestinal pseudo-obstruction with central nervous system involvement. Am J Hum Genet 2007; 80: 751\u2013758.","journal-title":"Am J Hum Genet"},{"key":"BFejhg2008192_CR12","doi-asserted-by":"publisher","first-page":"666","DOI":"10.1136\/jmg.34.8.666","volume":"34","author":"DR FitzPatrick","year":"1997","unstructured":"FitzPatrick DR, Strain L, Thomas AE et al: Neurogenic chronic idiopathic intestinal pseudo-obstruction, patent ductus arteriosus, and thrombocytopenia segregating as an X linked recessive disorder. J Med Genet 1997; 34: 666\u2013669.","journal-title":"J Med Genet"},{"key":"BFejhg2008192_CR13","doi-asserted-by":"publisher","first-page":"e57","DOI":"10.1093\/nar\/gnf056","volume":"30","author":"JP Schouten","year":"2002","unstructured":"Schouten JP, McElgunn CJ, Waaijer R, Zwijnenburg D, Diepvens F, Pals G : Relative quantification of 40 nucleic acid sequences by multiplex ligation-dependent probe amplification. Nucleic Acids Res 2002; 30: e57.","journal-title":"Nucleic Acids Res"},{"key":"BFejhg2008192_CR14","doi-asserted-by":"publisher","first-page":"301","DOI":"10.1016\/j.gde.2005.04.001","volume":"15","author":"SP Robertson","year":"2005","unstructured":"Robertson SP : Filamin A: phenotypic diversity. Curr Opin Genet Dev 2005; 15: 301\u2013307.","journal-title":"Curr Opin Genet Dev"},{"key":"BFejhg2008192_CR15","doi-asserted-by":"publisher","first-page":"1315","DOI":"10.1016\/S0896-6273(00)80651-0","volume":"21","author":"JW Fox","year":"1998","unstructured":"Fox JW, Lamperti ED, Eksio\u011flu YZ et al: Mutations in filamin 1 prevent migration of cerebral cortical neurons in human periventricular heterotopia. Neuron 1998; 21: 1315\u20131325.","journal-title":"Neuron"},{"key":"BFejhg2008192_CR16","doi-asserted-by":"publisher","first-page":"379","DOI":"10.1086\/514863","volume":"61","author":"JM Fink","year":"1997","unstructured":"Fink JM, Dobyns WB, Guerrini R, Hirsch BA : Identification of a duplication of Xq28 associated with bilateral periventricular nodular heterotopia. Am J Hum Genet 1997; 61: 379\u2013387.","journal-title":"Am J Hum Genet"},{"key":"BFejhg2008192_CR17","doi-asserted-by":"publisher","first-page":"9648","DOI":"10.1523\/JNEUROSCI.2363-04.2004","volume":"24","author":"T Nagano","year":"2004","unstructured":"Nagano T, Morikubo S, Sato M : Filamin A and FILIP (Filamin A-Interacting Protein) regulate cell polarity and motility in neocortical subventricular and intermediate zones during radial migration. J Neurosci 2004; 24: 9648\u20139657.","journal-title":"J Neurosci"},{"key":"BFejhg2008192_CR18","doi-asserted-by":"publisher","first-page":"1775","DOI":"10.1093\/hmg\/10.17.1775","volume":"10","author":"VL Sheen","year":"2001","unstructured":"Sheen VL, Dixon PH, Fox JW et al: Mutations in the X-linked Filamin 1 gene cause periventricular nodular heterotopia in males as well as in females. Hum Mol Genet 2001; 10: 1775\u20131783.","journal-title":"Hum Mol Genet"},{"key":"BFejhg2008192_CR19","doi-asserted-by":"publisher","first-page":"541","DOI":"10.1136\/jmg.2005.038505","volume":"43","author":"U Hehr","year":"2006","unstructured":"Hehr U, Hehr A, Uvanik G, Phelan E, Winkler J, Reardon W : A filamin A splice mutation resulting in a syndrome of facial dysmorphism, periventricular nodular heterotopia, and severe constipation reminiscent of cerebro-fronto-facial syndrome. J Med Genet 2006; 43: 541\u2013544.","journal-title":"J Med Genet"},{"key":"BFejhg2008192_CR20","doi-asserted-by":"publisher","first-page":"495","DOI":"10.1136\/jmg.28.7.495","volume":"28","author":"I Pollock","year":"1991","unstructured":"Pollock I, Holmes SJK, Patton MA, Hamilton PA, Stacey TE : Congenital intestinal pseudo-obstruction associated with a giant platelet disorder. J Med Genet 1991; 28: 495\u2013496.","journal-title":"J Med Genet"},{"key":"BFejhg2008192_CR21","doi-asserted-by":"publisher","first-page":"479","DOI":"10.1111\/j.1399-0004.1976.tb01600.x","volume":"9","author":"DJ Harris","year":"1976","unstructured":"Harris DJ, Ashcraft KW, Beatty EC, Holder TM, Leonidas JC : Natal teeth, patent ductus arteriosus and intestinal pseudo-obstruction: a lethal syndrome in the newborn. Clin Genet 1976; 9: 479\u2013482.","journal-title":"Clin Genet"},{"key":"BFejhg2008192_CR22","first-page":"743","volume":"58","author":"A Auricchio","year":"1996","unstructured":"Auricchio A, Brancolini V, Casari G et al: The locus for a novel syndromic form of neuronal intestinal pseudoobstruction maps to Xq28. Am J Hum Genet 1996; 58: 743\u2013748.","journal-title":"Am J Hum Genet"},{"key":"BFejhg2008192_CR23","doi-asserted-by":"publisher","first-page":"1892","DOI":"10.1093\/brain\/awl125","volume":"129","author":"E Parrini","year":"2006","unstructured":"Parrini E, Ramazzotti A, Dobyns WB et al: Periventricular heterotopia: phenotypic heterogeneity and correlation with Filamin A mutations. Brain 2006; 129: 1892\u20131906.","journal-title":"Brain"},{"key":"BFejhg2008192_CR24","doi-asserted-by":"publisher","first-page":"1876","DOI":"10.1002\/ajmg.a.31751","volume":"143A","author":"S Unger","year":"2007","unstructured":"Unger S, Mainberger A, Spitz C et al: Filamin A mutation is one cause of FG syndrome. Am J Med Genet A 2007; 143A: 1876\u20131879.","journal-title":"Am J Med Genet A"},{"key":"BFejhg2008192_CR25","doi-asserted-by":"publisher","first-page":"451","DOI":"10.1038\/ng1992","volume":"39","author":"H Risheg","year":"2007","unstructured":"Risheg H, Graham Jr JM, Clark RD et al: A recurrent mutation in MED12 leading to R961W causes Opitz\u2013Kaveggia syndrome. Nat Genet 2007; 39: 451\u2013453.","journal-title":"Nat Genet"}],"container-title":["European Journal of Human Genetics"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/www.nature.com\/articles\/ejhg2008192.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/www.nature.com\/articles\/ejhg2008192","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/www.nature.com\/articles\/ejhg2008192.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,5,18]],"date-time":"2023-05-18T16:55:45Z","timestamp":1684428945000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.nature.com\/articles\/ejhg2008192"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2008,10,15]]},"references-count":25,"journal-issue":{"issue":"4","published-print":{"date-parts":[[2009,4]]}},"alternative-id":["BFejhg2008192"],"URL":"https:\/\/doi.org\/10.1038\/ejhg.2008.192","relation":{},"ISSN":["1018-4813","1476-5438"],"issn-type":[{"value":"1018-4813","type":"print"},{"value":"1476-5438","type":"electronic"}],"subject":[],"published":{"date-parts":[[2008,10,15]]}}}