{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,24]],"date-time":"2026-07-24T03:54:12Z","timestamp":1784865252896,"version":"3.55.0"},"reference-count":27,"publisher":"Hindawi Limited","issue":"9","license":[{"start":{"date-parts":[[2015,9,1]],"date-time":"2015-09-01T00:00:00Z","timestamp":1441065600000},"content-version":"tdm","delay-in-days":420,"URL":"http:\/\/doi.wiley.com\/10.1002\/tdm_license_1.1"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Human Mutation"],"published-print":{"date-parts":[[2014,9]]},"DOI":"10.1002\/humu.22603","type":"journal-article","created":{"date-parts":[[2014,6,13]],"date-time":"2014-06-13T11:13:47Z","timestamp":1402658027000},"page":"1092-1100","source":"Crossref","is-referenced-by-count":29,"title":["Deletions in the 3\u2032 Part of the<i>NFIX<\/i>Gene Including a Recurrent Alu-Mediated Deletion of Exon 6 and 7 Account for Previously Unexplained Cases of Marshall-Smith Syndrome"],"prefix":"10.1155","volume":"35","author":[{"given":"Denny","family":"Schanze","sequence":"first","affiliation":[{"name":"Institute of Human Genetics; University Hospital Magdeburg; Magdeburg Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Doroth\u00e9e","family":"Neubauer","sequence":"additional","affiliation":[{"name":"Institute of Human Genetics; University Hospital Magdeburg; Magdeburg Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Valerie","family":"Cormier-Daire","sequence":"additional","affiliation":[{"name":"D\u00e9partement de G\u00e9n\u00e9tique, Unit\u00e9 Institut National de la Sant\u00e9 et de la Recherche M\u00e9dicale (INSERM) U781; Universit\u00e9 Paris Descartes, Sorbonne Paris Cit\u00e9, H\u00f4pital Necker Enfants Malades; Paris Cedex France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marie-Ange","family":"Delrue","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics; Pellegrin Hospital; Bordeaux France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Anne","family":"Dieux-Coeslier","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics; Jeanne de Flandre Hospital; Lille France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tomonobu","family":"Hasegawa","sequence":"additional","affiliation":[{"name":"Department of Pediatrics; Keio University School of Medicine; Tokyo Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Eva E.","family":"Holmberg","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics; Oslo University Hospital; Oslo Norway"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Rainer","family":"Koenig","sequence":"additional","affiliation":[{"name":"Institute of Human Genetics; Johann Wolfgang Goethe University Hospital; Frankfurt\/Main Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Gabriele","family":"Krueger","sequence":"additional","affiliation":[{"name":"Medical Genetics Unit, Department of Pediatrics; University Hospital Rostock; Rostock Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ina","family":"Schanze","sequence":"additional","affiliation":[{"name":"Institute of Human Genetics; University Hospital Magdeburg; Magdeburg Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Eva","family":"Seemanova","sequence":"additional","affiliation":[{"name":"Institute of Biology & Medical Genetics, Department of Clinical Genetics; Praha Czech Republic"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Adam C.","family":"Shaw","sequence":"additional","affiliation":[{"name":"Clinical Genetics, Guy's & St Thomas' Hospitals; London United Kingdom"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Julie","family":"Vogt","sequence":"additional","affiliation":[{"name":"West Midlands Regional Genetics Service, Clinical Genetics Unit; Birmingham Women's Hospital; West Midlands United Kingdom"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marianne","family":"Volleth","sequence":"additional","affiliation":[{"name":"Institute of Human Genetics; University Hospital Magdeburg; Magdeburg Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Andr\u00e9","family":"Reis","sequence":"additional","affiliation":[{"name":"Institute of Human Genetics; Universit\u00e4t Erlangen-N\u00fcrnberg; Erlangen Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Peter","family":"Meinecke","sequence":"additional","affiliation":[{"name":"Institute of Human Genetics; University Hospital Hamburg-Eppendorf; Hamburg Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Raoul C.M.","family":"Hennekam","sequence":"additional","affiliation":[{"name":"Department of Pediatrics H7-236, Academic Medical Center; University of Amsterdam; Amsterdam The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Martin","family":"Zenker","sequence":"additional","affiliation":[{"name":"Institute of Human Genetics; University Hospital Magdeburg; Magdeburg Germany"},{"name":"Institute of Human Genetics; Universit\u00e4t Erlangen-N\u00fcrnberg; Erlangen Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"98","published-online":{"date-parts":[[2014,7,8]]},"reference":[{"key":"10.1002\/humu.22603-BIB0001|humu22603-cit-0001","doi-asserted-by":"crossref","first-page":"370","DOI":"10.1038\/nrg798","article-title":"Alu repeats and human genomic diversity","volume":"3","author":"Batzer","year":"2002","journal-title":"Nat Rev Genet"},{"key":"10.1002\/humu.22603-BIB0002|humu22603-cit-0002","doi-asserted-by":"crossref","first-page":"582","DOI":"10.1097\/GIM.0b013e3182106775","article-title":"Alu-specific microhomology-mediated deletion of the final exon of SPAST in three unrelated subjects with hereditary spastic paraplegia","volume":"13","author":"Boone","year":"2011","journal-title":"Genet Med"},{"key":"10.1002\/humu.22603-BIB0003|humu22603-cit-0003","doi-asserted-by":"crossref","first-page":"1075","DOI":"10.1002\/humu.21557","article-title":"On the sequence-directed nature of human gene mutation: the role of genomic architecture and the local DNA sequence environment in mediating gene mutations underlying human inherited disease","volume":"32","author":"Cooper","year":"2011","journal-title":"Hum Mutat"},{"key":"10.1002\/humu.22603-BIB0004|humu22603-cit-0004","doi-asserted-by":"crossref","first-page":"183","DOI":"10.1006\/mgme.1999.2864","article-title":"Alu repeats and human disease","volume":"67","author":"Deininger","year":"1999","journal-title":"Mol Genet Metab"},{"key":"10.1002\/humu.22603-BIB0005|humu22603-cit-0005","doi-asserted-by":"crossref","first-page":"4073","DOI":"10.1128\/MCB.16.8.4073","article-title":"Two regions within the DNA binding domain of nuclear factor I interact with DNA and stimulate adenovirus DNA replication independently","volume":"16","author":"Dekker","year":"1996","journal-title":"Mol Cell Biol"},{"key":"10.1002\/humu.22603-BIB0006|humu22603-cit-0006","doi-asserted-by":"crossref","first-page":"776","DOI":"10.1002\/humu.20948","article-title":"Alu-Alu recombination underlies the vast majority of large VHL germline deletions: Molecular characterization and genotype-phenotype correlations in VHL patients","volume":"30","author":"Franke","year":"2009","journal-title":"Hum Mutat"},{"key":"10.1002\/humu.22603-BIB0007|humu22603-cit-0007","doi-asserted-by":"crossref","first-page":"559","DOI":"10.1002\/j.1460-2075.1990.tb08143.x","article-title":"Amino-terminal domain of NF1 binds to DNA as a dimer and activates adenovirus DNA replication","volume":"9","author":"Gounari","year":"1990","journal-title":"EMBO J"},{"key":"10.1002\/humu.22603-BIB0008|humu22603-cit-0008","doi-asserted-by":"crossref","first-page":"31","DOI":"10.1016\/S0378-1119(00)00140-2","article-title":"Roles of the NFI\/CTF gene family in transcription and development","volume":"249","author":"Gronostajski","year":"2000","journal-title":"Gene"},{"key":"10.1002\/humu.22603-BIB0009|humu22603-cit-0009","doi-asserted-by":"crossref","first-page":"964","DOI":"10.1128\/MCB.5.5.964","article-title":"Site-specific DNA binding of nuclear factor I: analyses of cellular binding sites","volume":"5","author":"Gronostajski","year":"1985","journal-title":"Mol Cell Biol"},{"key":"10.1002\/humu.22603-BIB0010|humu22603-cit-0010","doi-asserted-by":"crossref","first-page":"229","DOI":"10.1016\/0168-9525(96)10022-6","article-title":"Active repression mechanisms of eukaryotic transcription repressors","volume":"12","author":"Hanna-Rose","year":"1996","journal-title":"Trends Genet"},{"key":"10.1002\/humu.22603-BIB0011|humu22603-cit-0011","doi-asserted-by":"crossref","first-page":"551","DOI":"10.1038\/nrg2593","article-title":"Mechanisms of change in gene copy number","volume":"10","author":"Hastings","year":"2009","journal-title":"Nat Rev Genet"},{"key":"10.1002\/humu.22603-BIB0012|humu22603-cit-0012","doi-asserted-by":"crossref","first-page":"388","DOI":"10.1002\/humu.9417","article-title":"Distinct patterns of germ-line deletions in MLH1 and MSH2: the implication of Alu repetitive element in the genetic etiology of Lynch syndrome (HNPCC)","volume":"27","author":"Li","year":"2006","journal-title":"Hum Mutat"},{"key":"10.1002\/humu.22603-BIB0013|humu22603-cit-0013","doi-asserted-by":"crossref","first-page":"189","DOI":"10.1016\/j.ajhg.2010.07.001","article-title":"Distinct effects of allelic NFIX mutations on nonsense-mediated mRNA decay engender either a Sotos-like or a Marshall-Smith syndrome","volume":"87","author":"Malan","year":"2010","journal-title":"Am J Hum Genet"},{"key":"10.1002\/humu.22603-BIB0014|humu22603-cit-0014","doi-asserted-by":"crossref","first-page":"517","DOI":"10.1098\/rstb.1996.0050","article-title":"Mechanisms of transcriptional activation and repression can both involve TFIID","volume":"351","author":"Manley","year":"1996","journal-title":"Philos Trans R Soc Lond B Biol Sci"},{"key":"10.1002\/humu.22603-BIB0015|humu22603-cit-0015","doi-asserted-by":"crossref","first-page":"95","DOI":"10.1016\/S0022-3476(71)80269-X","article-title":"Syndrome of accelerated skeletal maturation and relative failure to thrive: a newly recognized clinical growth disorder","volume":"78","author":"Marshall","year":"1971","journal-title":"J Pediatr"},{"key":"10.1002\/humu.22603-BIB0016|humu22603-cit-0016","doi-asserted-by":"crossref","first-page":"2937","DOI":"10.1128\/MCB.11.6.2937","article-title":"Synergistic transcriptional activation by CTF\/NF-I and the estrogen receptor involves stabilized interactions with a limiting target factor","volume":"11","author":"Martinez","year":"1991","journal-title":"Mol Cell Biol"},{"key":"10.1002\/humu.22603-BIB0017|humu22603-cit-0017","doi-asserted-by":"crossref","first-page":"415","DOI":"10.1002\/humu.20169","article-title":"Genomic rearrangements in the BRCA1 and BRCA2 genes","volume":"25","author":"Mazoyer","year":"2005","journal-title":"Hum Mutat"},{"key":"10.1002\/humu.22603-BIB0018|humu22603-cit-0018","doi-asserted-by":"crossref","first-page":"741","DOI":"10.1016\/0092-8674(89)90108-6","article-title":"The proline-rich transcriptional activator of CTF\/NF-I is distinct from the replication and DNA binding domain","volume":"58","author":"Mermod","year":"1989","journal-title":"Cell"},{"key":"10.1002\/humu.22603-BIB0019|humu22603-cit-0019","doi-asserted-by":"crossref","first-page":"325","DOI":"10.1016\/S0092-8674(00)80211-1","article-title":"What's up and down with histone deacetylation and transcription","volume":"89","author":"Pazin","year":"1997","journal-title":"Cell"},{"key":"10.1002\/humu.22603-BIB0020|humu22603-cit-0020","doi-asserted-by":"crossref","first-page":"103","DOI":"10.1016\/j.gene.2012.08.040","article-title":"A peculiar mutation in the DNA-binding\/dimerization domain of NFIX causes Sotos-like overgrowth syndrome: a new case","volume":"511","author":"Priolo","year":"2012","journal-title":"Gene"},{"key":"10.1002\/humu.22603-BIB0021|humu22603-cit-0021","doi-asserted-by":"crossref","first-page":"4961","DOI":"10.1002\/j.1460-2075.1992.tb05603.x","article-title":"Different activation domains stimulate transcription from remote ('enhancer') and proximal ('promoter') positions","volume":"11","author":"Seipel","year":"1992","journal-title":"EMBO J"},{"key":"10.1002\/humu.22603-BIB0022|humu22603-cit-0022","doi-asserted-by":"crossref","first-page":"2714","DOI":"10.1002\/ajmg.a.33709","article-title":"Phenotype and natural history in Marshall-Smith syndrome","volume":"152A","author":"Shaw","year":"2010","journal-title":"Am J Med Genet A"},{"key":"10.1002\/humu.22603-BIB0023|humu22603-cit-0023","doi-asserted-by":"crossref","first-page":"155","DOI":"10.1038\/ejhg.2011.182","article-title":"De novo deletions and duplications detected by array CGH: a study of parental origin in relation to mechanisms of formation and size of imbalance","volume":"20","author":"Sibbons","year":"2012","journal-title":"Eur J Hum Genet"},{"key":"10.1002\/humu.22603-BIB0024|humu22603-cit-0024","doi-asserted-by":"crossref","first-page":"444","DOI":"10.1007\/s00439-006-0157-6","article-title":"Parental and chromosomal origin of unbalanced de novo structural chromosome abnormalities in man","volume":"119","author":"Thomas","year":"2006","journal-title":"Hum Genet"},{"key":"10.1002\/humu.22603-BIB0025|humu22603-cit-0025","doi-asserted-by":"crossref","first-page":"3579","DOI":"10.1093\/hmg\/ddp306","article-title":"Rare pathogenic microdeletions and tandem duplications are microhomology-mediated and stimulated by local genomic architecture","volume":"18","author":"Vissers","year":"2009","journal-title":"Hum Mol Genet"},{"key":"10.1002\/humu.22603-BIB0026|humu22603-cit-0026","doi-asserted-by":"crossref","first-page":"207","DOI":"10.1038\/jhg.2012.7","article-title":"Missense mutations in the DNA-binding\/dimerization domain of NFIX cause Sotos-like features","volume":"57","author":"Yoneda","year":"2012","journal-title":"J Hum Genet"},{"key":"10.1002\/humu.22603-BIB0027|humu22603-cit-0027","doi-asserted-by":"crossref","first-page":"451","DOI":"10.1146\/annurev.genom.9.081307.164217","article-title":"Copy number variation in human health, disease, and evolution","volume":"10","author":"Zhang","year":"2009","journal-title":"Annu Rev Genomics Hum Genet"}],"container-title":["Human Mutation"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fhumu.22603","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/onlinelibrary.wiley.com\/wol1\/doi\/10.1002\/humu.22603\/fullpdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2022,12,29]],"date-time":"2022-12-29T16:55:41Z","timestamp":1672332941000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/humu.22603"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2014,7,8]]},"references-count":27,"journal-issue":{"issue":"9","published-print":{"date-parts":[[2014,9]]}},"URL":"https:\/\/doi.org\/10.1002\/humu.22603","relation":{},"ISSN":["1059-7794"],"issn-type":[{"value":"1059-7794","type":"print"}],"subject":[],"published":{"date-parts":[[2014,7,8]]}}}