{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,20]],"date-time":"2026-08-20T11:50:11Z","timestamp":1787226611839,"version":"build-2736575974"},"reference-count":29,"publisher":"Elsevier BV","issue":"2","license":[{"start":{"date-parts":[[2010,8,1]],"date-time":"2010-08-01T00:00:00Z","timestamp":1280620800000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2013,8,22]],"date-time":"2013-08-22T00:00:00Z","timestamp":1377129600000},"content-version":"vor","delay-in-days":1117,"URL":"http:\/\/www.elsevier.com\/open-access\/userlicense\/1.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["The American Journal of Human Genetics"],"published-print":{"date-parts":[[2010,8]]},"DOI":"10.1016\/j.ajhg.2010.07.001","type":"journal-article","created":{"date-parts":[[2010,7,31]],"date-time":"2010-07-31T04:16:26Z","timestamp":1280549786000},"page":"189-198","source":"Crossref","is-referenced-by-count":163,"title":["Distinct Effects of Allelic NFIX Mutations on Nonsense-Mediated mRNA Decay Engender Either a Sotos-like or a Marshall-Smith Syndrome"],"prefix":"10.1016","volume":"87","author":[{"given":"Val\u00e9rie","family":"Malan","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Diana","family":"Rajan","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sophie","family":"Thomas","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Adam C.","family":"Shaw","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"H\u00e9l\u00e8ne","family":"Louis dit Picard","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Val\u00e9rie","family":"Layet","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marianne","family":"Till","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Arie","family":"van Haeringen","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Geert","family":"Mortier","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sheela","family":"Nampoothiri","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Silvija","family":"Pu\u0161elji\u0107","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Laurence","family":"Legeai-Mallet","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nigel P.","family":"Carter","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Michel","family":"Vekemans","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Arnold","family":"Munnich","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Raoul C.","family":"Hennekam","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Laurence","family":"Colleaux","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Val\u00e9rie","family":"Cormier-Daire","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"78","reference":[{"issue":"Spec No 1","key":"10.1016\/j.ajhg.2010.07.001_bib1","doi-asserted-by":"crossref","first-page":"R61","DOI":"10.1093\/hmg\/ddg067","article-title":"Beckwith-Wiedemann syndrome demonstrates a role for epigenetic control of normal development","volume":"12","author":"Weksberg","year":"2003","journal-title":"Hum. Mol. Genet."},{"key":"10.1016\/j.ajhg.2010.07.001_bib2","doi-asserted-by":"crossref","first-page":"598","DOI":"10.1097\/00008480-200312000-00010","article-title":"Genetics of Sotos syndrome","volume":"15","author":"Visser","year":"2003","journal-title":"Curr. Opin. Pediatr."},{"key":"10.1016\/j.ajhg.2010.07.001_bib3","doi-asserted-by":"crossref","first-page":"279","DOI":"10.1002\/(SICI)1096-8628(19981002)79:4<279::AID-AJMG9>3.0.CO;2-H","article-title":"Clinical and molecular aspects of the Simpson-Golabi-Behmel syndrome","volume":"79","author":"Neri","year":"1998","journal-title":"Am. J. Med. Genet."},{"key":"10.1016\/j.ajhg.2010.07.001_bib4","doi-asserted-by":"crossref","first-page":"719","DOI":"10.1136\/jmg.34.9.719","article-title":"Translocations involving 4p16.3 in three families: Deletion causing the Pitt-Rogers-Danks syndrome and duplication resulting in a new overgrowth syndrome","volume":"34","author":"Partington","year":"1997","journal-title":"J. Med. Genet."},{"key":"10.1016\/j.ajhg.2010.07.001_bib5","doi-asserted-by":"crossref","first-page":"699","DOI":"10.1038\/sj.ejhg.5200879","article-title":"Overgrowth and trisomy 15q26.1-qter including the IGF1 receptor gene: report of two families and review of the literature","volume":"10","author":"Faivre","year":"2002","journal-title":"Eur. J. Hum. Genet."},{"key":"10.1016\/j.ajhg.2010.07.001_bib6","doi-asserted-by":"crossref","first-page":"91","DOI":"10.1002\/1096-8628(20010615)101:2<91::AID-AJMG1340>3.0.CO;2-C","article-title":"22q13 deletion syndrome","volume":"101","author":"Phelan","year":"2001","journal-title":"Am. J. Med. Genet."},{"key":"10.1016\/j.ajhg.2010.07.001_bib7","doi-asserted-by":"crossref","first-page":"227","DOI":"10.1038\/ejhg.2009.162","article-title":"Array-based comparative genomic hybridization identifies a high frequency of copy number variations in patients with syndromic overgrowth","volume":"18","author":"Malan","year":"2010","journal-title":"Eur. J. Hum. Genet."},{"key":"10.1016\/j.ajhg.2010.07.001_bib8","doi-asserted-by":"crossref","first-page":"117","DOI":"10.1002\/ajmg.a.30580","article-title":"Marshall-Smith syndrome: Natural history and evidence of an osteochondrodysplasia with connective tissue abnormalities","volume":"137","author":"Adam","year":"2005","journal-title":"Am. J. Med. Genet. A."},{"key":"10.1016\/j.ajhg.2010.07.001_bib9","doi-asserted-by":"crossref","first-page":"e15","DOI":"10.1093\/nar\/gkl1030","article-title":"High resolution array-CGH analysis of single cells","volume":"35","author":"Fiegler","year":"2007","journal-title":"Nucleic Acids Res."},{"key":"10.1016\/j.ajhg.2010.07.001_bib10","doi-asserted-by":"crossref","first-page":"875","DOI":"10.1038\/ng2039","article-title":"The ciliary gene RPGRIP1L is mutated in cerebello-oculo-renal syndrome (Joubert syndrome type B) and Meckel syndrome","volume":"39","author":"Delous","year":"2007","journal-title":"Nat. Genet."},{"key":"10.1016\/j.ajhg.2010.07.001_bib11","doi-asserted-by":"crossref","first-page":"3855","DOI":"10.1128\/MCB.02293-06","article-title":"Nuclear factor I X deficiency causes brain malformation and severe skeletal defects","volume":"27","author":"Driller","year":"2007","journal-title":"Mol. Cell. Biol."},{"key":"10.1016\/j.ajhg.2010.07.001_bib12","doi-asserted-by":"crossref","first-page":"52","DOI":"10.1186\/1471-213X-8-52","article-title":"The transcription factor Nfix is essential for normal brain development","volume":"8","author":"Campbell","year":"2008","journal-title":"BMC Dev. Biol."},{"key":"10.1016\/j.ajhg.2010.07.001_bib13","doi-asserted-by":"crossref","first-page":"833","DOI":"10.1006\/jmbi.2000.3614","article-title":"Experimental analysis and computer prediction of CTF\/NFI transcription factor DNA binding sites","volume":"297","author":"Roulet","year":"2000","journal-title":"J. Mol. Biol."},{"key":"10.1016\/j.ajhg.2010.07.001_bib14","doi-asserted-by":"crossref","first-page":"2607","DOI":"10.1093\/nar\/18.9.2607","article-title":"Chicken NFI\/TGGCA proteins are encoded by at least three independent genes: NFI-A, NFI-B and NFI-C with homologues in mammalian genomes","volume":"18","author":"Rupp","year":"1990","journal-title":"Nucleic Acids Res"},{"key":"10.1016\/j.ajhg.2010.07.001_bib15","doi-asserted-by":"crossref","first-page":"6641","DOI":"10.1093\/nar\/19.23.6641","article-title":"Identification of a fourth nuclear factor I gene in chicken by cDNA cloning: NFI-X","volume":"19","author":"Kruse","year":"1991","journal-title":"Nucleic Acids Res."},{"key":"10.1016\/j.ajhg.2010.07.001_bib16","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":"10.1016\/j.ajhg.2010.07.001_bib17","doi-asserted-by":"crossref","first-page":"411","DOI":"10.1016\/S0092-8674(01)00583-9","article-title":"When the message goes awry: Disease-producing mutations that influence mRNA content and performance","volume":"107","author":"Mendell","year":"2001","journal-title":"Cell"},{"key":"10.1016\/j.ajhg.2010.07.001_bib18","doi-asserted-by":"crossref","first-page":"801","DOI":"10.1038\/ng1403","article-title":"Nonsense-mediated decay approaches the clinic","volume":"36","author":"Holbrook","year":"2004","journal-title":"Nat.\u00a0Genet."},{"key":"10.1016\/j.ajhg.2010.07.001_bib19","doi-asserted-by":"crossref","first-page":"306","DOI":"10.1016\/j.molmed.2006.05.005","article-title":"Applying nonsense-mediated mRNA decay research to the clinic: Progress and challenges","volume":"12","author":"Kuzmiak","year":"2006","journal-title":"Trends Mol. Med."},{"key":"10.1016\/j.ajhg.2010.07.001_bib20","doi-asserted-by":"crossref","first-page":"51","DOI":"10.1146\/annurev.biochem.76.050106.093909","article-title":"The nonsense-mediated decay RNA surveillance pathway","volume":"76","author":"Chang","year":"2007","journal-title":"Annu. Rev. Biochem."},{"key":"10.1016\/j.ajhg.2010.07.001_bib21","doi-asserted-by":"crossref","first-page":"2409","DOI":"10.1093\/hmg\/ddq124","article-title":"SOX10 structure-function analysis in the chicken neural tube reveals important insights into its role in human neurocristopathies","volume":"19","author":"Cossais","year":"2010","journal-title":"Hum. Mol. Genet."},{"key":"10.1016\/j.ajhg.2010.07.001_bib22","doi-asserted-by":"crossref","first-page":"451","DOI":"10.1016\/S0896-6273(00)80177-4","article-title":"Clinical phenotypes of different MPZ (P0) mutations may include Charcot-Marie-Tooth type 1B, Dejerine-Sottas, and congenital hypomyelination","volume":"17","author":"Warner","year":"1996","journal-title":"Neuron"},{"key":"10.1016\/j.ajhg.2010.07.001_bib23","doi-asserted-by":"crossref","first-page":"361","DOI":"10.1038\/ng1322","article-title":"Molecular mechanism for distinct neurological phenotypes conveyed by allelic truncating mutations","volume":"36","author":"Inoue","year":"2004","journal-title":"Nat. Genet."},{"key":"10.1016\/j.ajhg.2010.07.001_bib24","doi-asserted-by":"crossref","first-page":"955","DOI":"10.1038\/sj.ejhg.5200564","article-title":"Elastin: Mutational spectrum in supravalvular aortic stenosis","volume":"8","author":"Metcalfe","year":"2000","journal-title":"Eur. J. Hum. Genet."},{"key":"10.1016\/j.ajhg.2010.07.001_bib25","doi-asserted-by":"crossref","first-page":"317","DOI":"10.1038\/ejhg.2009.181","article-title":"Identification and characterization of seven novel mutations of elastin gene in a cohort of patients affected by supravalvular aortic stenosis","volume":"18","author":"Micale","year":"2010","journal-title":"Eur. J. Hum. Genet."},{"key":"10.1016\/j.ajhg.2010.07.001_bib26","doi-asserted-by":"crossref","first-page":"6860","DOI":"10.1093\/emboj\/19.24.6860","article-title":"The spliceosome deposits multiple proteins 20-24 nucleotides upstream of mRNA exon-exon junctions","volume":"19","author":"Le Hir","year":"2000","journal-title":"EMBO J."},{"key":"10.1016\/j.ajhg.2010.07.001_bib27","doi-asserted-by":"crossref","first-page":"4987","DOI":"10.1093\/emboj\/20.17.4987","article-title":"The exon-exon junction complex provides a binding platform for factors involved in mRNA export and nonsense-mediated mRNA decay","volume":"20","author":"Le Hir","year":"2001","journal-title":"EMBO J."},{"key":"10.1016\/j.ajhg.2010.07.001_bib28","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":"10.1016\/j.ajhg.2010.07.001_bib29","doi-asserted-by":"crossref","first-page":"306","DOI":"10.1038\/ng844","article-title":"A mutant PTH\/PTHrP type I receptor in enchondromatosis","volume":"30","author":"Hopyan","year":"2002","journal-title":"Nat. Genet."}],"container-title":["The American Journal of Human Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0002929710003575?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0002929710003575?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2019,2,8]],"date-time":"2019-02-08T18:34:16Z","timestamp":1549650856000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S0002929710003575"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2010,8]]},"references-count":29,"journal-issue":{"issue":"2","published-print":{"date-parts":[[2010,8]]}},"alternative-id":["S0002929710003575"],"URL":"https:\/\/doi.org\/10.1016\/j.ajhg.2010.07.001","relation":{},"ISSN":["0002-9297"],"issn-type":[{"value":"0002-9297","type":"print"}],"subject":[],"published":{"date-parts":[[2010,8]]}}}