{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,22]],"date-time":"2026-10-22T18:49:28Z","timestamp":1792694968216,"version":"4.5.0"},"reference-count":34,"publisher":"Elsevier BV","license":[{"start":{"date-parts":[[2021,11,1]],"date-time":"2021-11-01T00:00:00Z","timestamp":1635724800000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2021,11,1]],"date-time":"2021-11-01T00:00:00Z","timestamp":1635724800000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/legal\/tdmrep-license"}],"funder":[{"DOI":"10.13039\/501100003329","name":"Ministerio de Econom\u00eda y Competitividad","doi-asserted-by":"publisher","award":["PSI2017-84922-R"],"award-info":[{"award-number":["PSI2017-84922-R"]}],"id":[{"id":"10.13039\/501100003329","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100006541","name":"Comunidad de Madrid Consejer\u00eda de Sanidad","doi-asserted-by":"publisher","award":["SI1\/PJI\/2019\u201300061"],"award-info":[{"award-number":["SI1\/PJI\/2019\u201300061"]}],"id":[{"id":"10.13039\/501100006541","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100012818","name":"Comunidad de Madrid","doi-asserted-by":"publisher","award":["00061"],"award-info":[{"award-number":["00061"]}],"id":[{"id":"10.13039\/100012818","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100012818","name":"Comunidad de Madrid","doi-asserted-by":"publisher","award":["SI1\/PJI\/2019"],"award-info":[{"award-number":["SI1\/PJI\/2019"]}],"id":[{"id":"10.13039\/100012818","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["clinicalkey.com","clinicalkey.com.au","clinicalkey.es","clinicalkey.fr","clinicalkey.jp","ejpn-journal.com","elsevier.com","sciencedirect.com"],"crossmark-restriction":true},"short-container-title":["European Journal of Paediatric Neurology"],"published-print":{"date-parts":[[2021,11]]},"DOI":"10.1016\/j.ejpn.2021.09.008","type":"journal-article","created":{"date-parts":[[2021,9,15]],"date-time":"2021-09-15T21:49:17Z","timestamp":1631742557000},"page":"8-15","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":4,"special_numbering":"C","title":["Abnormal frontal gyrification pattern and uncinate development in patients with KBG syndrome caused by ANKRD11 aberrations"],"prefix":"10.1016","volume":"35","author":[{"given":"Mar","family":"Jim\u00e9nez de la Pe\u00f1a","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Daniel Mart\u00edn","family":"Fern\u00e1ndez-Mayoralas","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sara","family":"L\u00f3pez-Mart\u00edn","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-6538-9801","authenticated-orcid":false,"given":"Jacobo","family":"Albert","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Beatriz","family":"Calleja-P\u00e9rez","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ana Laura","family":"Fern\u00e1ndez-Perrone","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ana","family":"Jim\u00e9nez de Domingo","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Pilar","family":"Tirado","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sara","family":"\u00c1lvarez","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alberto","family":"Fern\u00e1ndez-Ja\u00e9n","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"78","reference":[{"key":"10.1016\/j.ejpn.2021.09.008_bib1","doi-asserted-by":"crossref","first-page":"1073","DOI":"10.1002\/ajmg.a.61524","article-title":"KBG syndrome: common and uncommon clinical features based on 31 new patients","volume":"182","author":"Gnazzo","year":"2020","journal-title":"Am. J. Med. Genet."},{"key":"10.1016\/j.ejpn.2021.09.008_bib2","doi-asserted-by":"crossref","first-page":"1866","DOI":"10.1002\/ajmg.a.38121","article-title":"KBG syndrome: an Australian experience","volume":"173","author":"Murray","year":"2017","journal-title":"Am. J. Med. Genet."},{"key":"10.1016\/j.ejpn.2021.09.008_bib3","doi-asserted-by":"crossref","first-page":"183","DOI":"10.1186\/s13023-017-0736-8","article-title":"KBG syndrome","volume":"12","author":"Morel Swols","year":"2017","journal-title":"Orphanet J. Rare Dis."},{"key":"10.1016\/j.ejpn.2021.09.008_bib4","doi-asserted-by":"crossref","first-page":"2835","DOI":"10.1002\/ajmg.a.37842","article-title":"Clinical and genetic aspects of KBG syndrome","volume":"170","author":"Low","year":"2016","journal-title":"Am. J. Med. Genet."},{"key":"10.1016\/j.ejpn.2021.09.008_bib5","doi-asserted-by":"crossref","first-page":"50","DOI":"10.1186\/1750-1172-1-50","article-title":"KBG syndrome","volume":"1","author":"Brancati","year":"2006","journal-title":"Orphanet J. Rare Dis."},{"key":"10.1016\/j.ejpn.2021.09.008_bib6","doi-asserted-by":"crossref","first-page":"130","DOI":"10.1159\/000496172","article-title":"Novel mutations and unreported clinical features in KBG syndrome","volume":"10","author":"Scarano","year":"2019","journal-title":"Mol Syndromol"},{"key":"10.1016\/j.ejpn.2021.09.008_bib7","doi-asserted-by":"crossref","first-page":"579805","DOI":"10.3389\/fgene.2020.579805","article-title":"Two novel mutations of ANKRD11 gene and wide clinical spectrum in KBG syndrome: case reports and literature review","volume":"11","author":"Kim","year":"2020","journal-title":"Front. Genet."},{"key":"10.1016\/j.ejpn.2021.09.008_bib8","doi-asserted-by":"crossref","first-page":"1309","DOI":"10.1002\/ajmg.a.61552","article-title":"KBG syndrome in two patients from Egypt","volume":"182","author":"Sayed","year":"2020","journal-title":"Am. J. Med. Genet."},{"key":"10.1016\/j.ejpn.2021.09.008_bib9","doi-asserted-by":"crossref","first-page":"289","DOI":"10.1016\/j.ajhg.2011.06.007","article-title":"Mutations in ANKRD11 cause KBG syndrome, characterized by intellectual disability, skeletal malformations, and macrodontia","volume":"89","author":"Sirmaci","year":"2011","journal-title":"Am. J. Hum. Genet."},{"key":"10.1016\/j.ejpn.2021.09.008_bib10","doi-asserted-by":"crossref","first-page":"1176","DOI":"10.1038\/ejhg.2014.253","article-title":"Further delineation of the KBG syndrome phenotype caused by ANKRD11 aberrations","volume":"23","author":"Ockeloen","year":"2015","journal-title":"Eur. J. Hum. Genet."},{"key":"10.1016\/j.ejpn.2021.09.008_bib11","doi-asserted-by":"crossref","first-page":"302","DOI":"10.1002\/ajmg.1320520310","article-title":"Six additional cases of the KBG syndrome: clinical reports and outline of the diagnostic criteria","volume":"52","author":"Zollino","year":"1994","journal-title":"Am. J. Med. Genet."},{"key":"10.1016\/j.ejpn.2021.09.008_bib12","doi-asserted-by":"crossref","first-page":"429","DOI":"10.1038\/ejhg.2009.192","article-title":"Identification of ANKRD11 and ZNF778 as candidate genes for autism and variable cognitive impairment in the novel 16q24.3 microdeletion syndrome","volume":"18","author":"Willemsen","year":"2010","journal-title":"Eur. J. Hum. Genet."},{"key":"10.1016\/j.ejpn.2021.09.008_bib13","doi-asserted-by":"crossref","first-page":"164","DOI":"10.1097\/MCD.0b013e3283387b3b","article-title":"KBG syndrome associated with periventricular nodular heterotopia","volume":"19","author":"Oegema","year":"2010","journal-title":"Clin. Dysmorphol."},{"key":"10.1016\/j.ejpn.2021.09.008_bib14","doi-asserted-by":"crossref","first-page":"1593","DOI":"10.1056\/NEJMc1710724","article-title":"Incidental findings on brain imaging in the general pediatric population","volume":"377","author":"Jansen","year":"2017","journal-title":"N.\u00a0Engl. J. Med."},{"key":"10.1016\/j.ejpn.2021.09.008_bib15","doi-asserted-by":"crossref","first-page":"1971","DOI":"10.3174\/ajnr.A3217","article-title":"Incidental head and neck findings on MRI in young healthy volunteers: prevalence and clinical implications","volume":"33","author":"Reneman","year":"2012","journal-title":"AJNR Am J Neuroradiol"},{"key":"10.1016\/j.ejpn.2021.09.008_bib16","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1007\/s10654-016-0123-0","article-title":"Incidental findings in population imaging revisited","volume":"31","author":"Bunnik","year":"2016","journal-title":"Eur. J. Epidemiol."},{"key":"10.1016\/j.ejpn.2021.09.008_bib17","doi-asserted-by":"crossref","first-page":"741","DOI":"10.1038\/jhg.2017.24","article-title":"ANKRD11 variants cause variable clinical features associated with KBG syndrome and Coffin-Siris-like syndrome","volume":"62","author":"Miyatake","year":"2017","journal-title":"J.\u00a0Hum. Genet."},{"key":"10.1016\/j.ejpn.2021.09.008_bib18","doi-asserted-by":"crossref","first-page":"2847","DOI":"10.1002\/ajmg.a.37878","article-title":"Clinical and molecular findings in 39 patients with KBG syndrome caused by deletion or mutation of ANKRD11","volume":"170","author":"Goldenberg","year":"2016","journal-title":"Am. J. Med. Genet."},{"key":"10.1016\/j.ejpn.2021.09.008_bib19","doi-asserted-by":"crossref","first-page":"1034","DOI":"10.1016\/j.bbrc.2007.05.017","article-title":"Characterization of transcriptional regulatory domains of ankyrin repeat cofactor-1","volume":"358","author":"Zhang","year":"2007","journal-title":"Biochem. Biophys. Res. Commun."},{"key":"10.1016\/j.ejpn.2021.09.008_bib20","doi-asserted-by":"crossref","first-page":"33799","DOI":"10.1074\/jbc.M403997200","article-title":"Identification of a novel family of ankyrin repeats containing cofactors for p160 nuclear receptor coactivators","volume":"279","author":"Zhang","year":"2004","journal-title":"J.\u00a0Biol. Chem."},{"key":"10.1016\/j.ejpn.2021.09.008_bib21","doi-asserted-by":"crossref","first-page":"31","DOI":"10.1016\/j.devcel.2014.11.031","article-title":"Ankrd11 is a chromatin regulator involved in autism that is essential for neural development","volume":"32","author":"Gallagher","year":"2015","journal-title":"Dev. Cell"},{"key":"10.1016\/j.ejpn.2021.09.008_bib22","doi-asserted-by":"crossref","first-page":"138","DOI":"10.1016\/j.nbd.2017.12.008","article-title":"ANKRD11 associated with intellectual disability and autism regulates dendrite differentiation via the BDNF\/TrkB signaling pathway","volume":"111","author":"Ka","year":"2018","journal-title":"Neurobiol. Dis."},{"key":"10.1016\/j.ejpn.2021.09.008_bib23","doi-asserted-by":"crossref","first-page":"668","DOI":"10.1016\/j.jaac.2015.05.011","article-title":"Reduced gyrification is related to reduced interhemispheric connectivity in autism spectrum disorders","volume":"54","author":"Bos","year":"2015","journal-title":"J.\u00a0Am. Acad. Child Adolesc. Psychiatry"},{"key":"10.1016\/j.ejpn.2021.09.008_bib24","doi-asserted-by":"crossref","first-page":"750","DOI":"10.3389\/fnhum.2013.00750","article-title":"Decreased frontal gyrification correlates with altered connectivity in children with autism","volume":"7","author":"Schaer","year":"2013","journal-title":"Front. Hum. Neurosci."},{"key":"10.1016\/j.ejpn.2021.09.008_bib25","doi-asserted-by":"crossref","first-page":"169","DOI":"10.1016\/j.pscychresns.2013.12.002","article-title":"Gyrification differences in children and adolescents with velocardiofacial syndrome and attention-deficit\/hyperactivity disorder: a pilot study","volume":"221","author":"Mous","year":"2014","journal-title":"Psychiatr. Res."},{"key":"10.1016\/j.ejpn.2021.09.008_bib26","doi-asserted-by":"crossref","first-page":"7840","DOI":"10.1523\/JNEUROSCI.1722-05.2005","article-title":"Genetic contributions to human gyrification: sulcal morphometry in Williams syndrome","volume":"25","author":"Kippenhan","year":"2005","journal-title":"J.\u00a0Neurosci."},{"key":"10.1016\/j.ejpn.2021.09.008_bib27","doi-asserted-by":"crossref","first-page":"521","DOI":"10.3389\/fpsyt.2018.00521","article-title":"Inferior frontal gyrus volume loss distinguishes between autism and (Comorbid) attention-deficit\/hyperactivity disorder-A FreeSurfer analysis in children","volume":"9","author":"Nickel","year":"2018","journal-title":"Front. Psychiatr."},{"key":"10.1016\/j.ejpn.2021.09.008_bib28","doi-asserted-by":"crossref","first-page":"50","DOI":"10.1186\/2040-2392-5-50","article-title":"The role of mirroring and mentalizing networks in mediating action intentions in autism","volume":"5","author":"Libero","year":"2014","journal-title":"Mol. Autism."},{"key":"10.1016\/j.ejpn.2021.09.008_bib29","doi-asserted-by":"crossref","first-page":"218","DOI":"10.1016\/j.bandc.2013.08.003","article-title":"Aberrant neural mediation of verbal fluency in autism spectrum disorders","volume":"83","author":"Kenworthy","year":"2013","journal-title":"Brain Cognit."},{"key":"10.1016\/j.ejpn.2021.09.008_bib30","doi-asserted-by":"crossref","first-page":"880","DOI":"10.1007\/s11682-015-9453-x","article-title":"Go\/No Go task performance predicts cortical thickness in the caudal inferior frontal gyrus in young adults with and without ADHD","volume":"10","author":"Newman","year":"2016","journal-title":"Brain Imaging Behav"},{"key":"10.1016\/j.ejpn.2021.09.008_bib31","doi-asserted-by":"crossref","first-page":"1692","DOI":"10.1093\/brain\/awt094","article-title":"Dissecting the uncinate fasciculus: disorders, controversies and a hypothesis","volume":"136","author":"Von Der Heide","year":"2013","journal-title":"Brain"},{"key":"10.1016\/j.ejpn.2021.09.008_bib32","doi-asserted-by":"crossref","first-page":"50","DOI":"10.1016\/j.dcn.2015.06.003","article-title":"Development of the uncinate fasciculus: implications for theory and developmental disorders","volume":"14","author":"Olson","year":"2015","journal-title":"Dev Cogn Neurosci"},{"key":"10.1016\/j.ejpn.2021.09.008_bib33","doi-asserted-by":"crossref","first-page":"28","DOI":"10.1007\/s00247-012-2428-9","article-title":"Diffusion tensor imaging and fiber tractography in brain malformations","volume":"43","author":"Poretti","year":"2013","journal-title":"Pediatr. Radiol."},{"key":"10.1016\/j.ejpn.2021.09.008_bib34","doi-asserted-by":"crossref","first-page":"59","DOI":"10.1007\/s00247-009-1448-6","article-title":"Diffusion imaging and tractography of congenital brain malformations","volume":"40","author":"Wahl","year":"2010","journal-title":"Pediatr. Radiol."}],"container-title":["European Journal of Paediatric Neurology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S1090379821001641?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S1090379821001641?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2025,10,21]],"date-time":"2025-10-21T18:38:26Z","timestamp":1761071906000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S1090379821001641"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2021,11]]},"references-count":34,"alternative-id":["S1090379821001641"],"URL":"https:\/\/doi.org\/10.1016\/j.ejpn.2021.09.008","relation":{},"ISSN":["1090-3798"],"issn-type":[{"value":"1090-3798","type":"print"}],"subject":[],"published":{"date-parts":[[2021,11]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"Abnormal frontal gyrification pattern and uncinate development in patients with KBG syndrome caused by ANKRD11 aberrations","name":"articletitle","label":"Article Title"},{"value":"European Journal of Paediatric Neurology","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.ejpn.2021.09.008","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"\u00a9 2021 European Paediatric Neurology Society. Published by Elsevier Ltd. All rights reserved.","name":"copyright","label":"Copyright"}]}}