{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2024,9,3]],"date-time":"2024-09-03T07:22:56Z","timestamp":1725348176674},"reference-count":29,"publisher":"Elsevier BV","issue":"3","license":[{"start":{"date-parts":[[2011,5,1]],"date-time":"2011-05-01T00:00:00Z","timestamp":1304208000000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["European Journal of Paediatric Neurology"],"published-print":{"date-parts":[[2011,5]]},"DOI":"10.1016\/j.ejpn.2010.12.001","type":"journal-article","created":{"date-parts":[[2010,12,29]],"date-time":"2010-12-29T09:29:17Z","timestamp":1293614957000},"page":"268-270","source":"Crossref","is-referenced-by-count":7,"title":["An 8.9 year old girl with autism and Gorlin syndrome"],"prefix":"10.1016","volume":"15","author":[{"given":"Hanne","family":"Delbroek","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jean","family":"Steyaert","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Eric","family":"Legius","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"78","reference":[{"key":"10.1016\/j.ejpn.2010.12.001_bib1","doi-asserted-by":"crossref","first-page":"32","DOI":"10.1186\/1750-1172-3-32","article-title":"Nevoid basal cell carcinoma syndrome (Gorlin syndrome)","volume":"3","author":"Lo Muzio","year":"2008","journal-title":"Orphanet J Rare Dis"},{"key":"10.1016\/j.ejpn.2010.12.001_bib2","doi-asserted-by":"crossref","first-page":"581","DOI":"10.1016\/0140-6736(92)90868-4","article-title":"Location of gene for Gorlin syndrome","volume":"339","author":"Farndon","year":"1992","journal-title":"Lancet"},{"key":"10.1016\/j.ejpn.2010.12.001_bib3","doi-asserted-by":"crossref","first-page":"327","DOI":"10.1002\/ajmg.a.33139","article-title":"Birth Incidence and prevalence of tumor-prone syndromes: estimates from a UK family genetic register service","volume":"152A","author":"Evans","year":"2010","journal-title":"Am J Med Genet A"},{"key":"10.1016\/j.ejpn.2010.12.001_bib4","doi-asserted-by":"crossref","first-page":"160","DOI":"10.1097\/01.cco.0000154108.99236.ed","article-title":"Basal cell nevus syndrome","volume":"17","author":"High","year":"2005","journal-title":"Curr Opin Oncol"},{"key":"10.1016\/j.ejpn.2010.12.001_bib5","doi-asserted-by":"crossref","first-page":"163","DOI":"10.1007\/BF01843725","article-title":"Zur lehre von den augeschwulsten","volume":"28","author":"Jarish","year":"1894","journal-title":"Archiv juf dermatologic syphilogic"},{"key":"10.1016\/j.ejpn.2010.12.001_bib6","first-page":"57","article-title":"Basal cell nevus syndrome. Presentation of six cases and literature review","volume":"10","author":"D\u00edaz-Fern\u00e1ndez","year":"2005","journal-title":"Med Oral Patol Oral Cir Bucal"},{"key":"10.1016\/j.ejpn.2010.12.001_bib7","series-title":"Diagnostic and statistical manual of mental disorders","first-page":"70","article-title":"Pervasive developmental disorders","author":"American Psychiatric Association","year":"2000"},{"key":"10.1016\/j.ejpn.2010.12.001_bib8","doi-asserted-by":"crossref","first-page":"591","DOI":"10.1203\/PDR.0b013e31819e7203","article-title":"Epidemiology of pervasive developmental disorders","volume":"65","author":"Fombonne","year":"2009","journal-title":"Pediatr Res"},{"key":"10.1016\/j.ejpn.2010.12.001_bib9","series-title":"Handleiding en Verantwoording","article-title":"WISC-IIINL Wechsler Intelligence scale for children","author":"Kort","year":"2005"},{"key":"10.1016\/j.ejpn.2010.12.001_bib10","series-title":"Movement ABC: Nederlandse handleiding","author":"Smits-Engelmans","year":"1998"},{"key":"10.1016\/j.ejpn.2010.12.001_bib11","doi-asserted-by":"crossref","first-page":"25","DOI":"10.1006\/excr.1999.4676","article-title":"Hedgehog signal transduction from flies to vertebrates","volume":"253","author":"Murone","year":"1999","journal-title":"Exp Cell Res"},{"key":"10.1016\/j.ejpn.2010.12.001_bib12","doi-asserted-by":"crossref","first-page":"459","DOI":"10.1007\/s001099900018","article-title":"The patched signaling pathway in tumorigenesis and development: lessons from animal models","volume":"77","author":"Hahn","year":"1999","journal-title":"J Mol Med"},{"key":"10.1016\/j.ejpn.2010.12.001_bib13","doi-asserted-by":"crossref","first-page":"1113","DOI":"10.1111\/j.1365-4632.2007.03391.x","article-title":"Correlations between the Sonic Hedgehog pathway and basal cell carcinoma","volume":"46","author":"Lupi","year":"2007","journal-title":"Int J Dermatol"},{"key":"10.1016\/j.ejpn.2010.12.001_bib14","doi-asserted-by":"crossref","first-page":"1503","DOI":"10.1111\/j.0022-202X.2004.22612.x","article-title":"GLI2 is expressed in normal human epidermis and BCC and induces GLI1 expression by binding to its promoter","volume":"122","author":"Ikram","year":"2004","journal-title":"J Invest Dermatol"},{"key":"10.1016\/j.ejpn.2010.12.001_bib15","doi-asserted-by":"crossref","first-page":"4","DOI":"10.1111\/j.1365-2990.2007.00872.x","article-title":"The neuropathology of autism: where do we stand?","volume":"34","author":"Schmitz","year":"2008","journal-title":"Neuropathol Appl Neurobiol"},{"key":"10.1016\/j.ejpn.2010.12.001_bib16","doi-asserted-by":"crossref","first-page":"434","DOI":"10.1111\/j.1750-3639.2007.00102.x","article-title":"The neurobiology of autism","volume":"17","author":"Pardo","year":"2007","journal-title":"Brain Pathol"},{"key":"10.1016\/j.ejpn.2010.12.001_bib17","doi-asserted-by":"crossref","first-page":"231","DOI":"10.1016\/j.conb.2009.06.003","article-title":"A synaptic trek to autism","volume":"19","author":"Bourgeron","year":"2009","journal-title":"Curr Opin Neurobiol"},{"key":"10.1016\/j.ejpn.2010.12.001_bib18","doi-asserted-by":"crossref","first-page":"137","DOI":"10.1016\/j.tins.2007.12.005","article-title":"Neuroanatomy of autism","volume":"31","author":"Amaral","year":"2008","journal-title":"Trends Neurosci"},{"key":"10.1016\/j.ejpn.2010.12.001_bib19","doi-asserted-by":"crossref","first-page":"841","DOI":"10.1038\/nrg1969","article-title":"Orchestrating ontogenesis: variations on a theme by sonic hedgehog","volume":"7","author":"Ingham","year":"2006","journal-title":"Nat Rev Genet"},{"key":"10.1016\/j.ejpn.2010.12.001_bib20","doi-asserted-by":"crossref","first-page":"353","DOI":"10.1006\/scdb.1999.0295","article-title":"The specification of neuronal identity by graded sonic hedgehog signalling","volume":"10","author":"Briscoe","year":"1999","journal-title":"Semin Cell Dev Biol"},{"key":"10.1016\/j.ejpn.2010.12.001_bib21","doi-asserted-by":"crossref","first-page":"5201","DOI":"10.1242\/dev.128.24.5201","article-title":"The sonic hedgehog-Gli pathway regulates dorsal brain growth and tumorgenesis","volume":"128","author":"Dahmane","year":"2001","journal-title":"Development"},{"key":"10.1016\/j.ejpn.2010.12.001_bib22","doi-asserted-by":"crossref","first-page":"21","DOI":"10.1038\/nn983","article-title":"Sonic hedgehog regulates adult neural progenitor proliferation in vitro and in vivo","volume":"6","author":"Lai","year":"2003","journal-title":"Nat Neurosci"},{"key":"10.1016\/j.ejpn.2010.12.001_bib23","doi-asserted-by":"crossref","first-page":"8954","DOI":"10.1523\/JNEUROSCI.19-20-08954.1999","article-title":"Sonic hedgehog regulates proliferation and inhibits differentiation of CNS precursor cells","volume":"19","author":"Rowitch","year":"1999","journal-title":"J Neurosci"},{"key":"10.1016\/j.ejpn.2010.12.001_bib24","doi-asserted-by":"crossref","first-page":"143","DOI":"10.1242\/dev.01566","article-title":"Growth and pattern of the mammalian neural tube are governed by partially overlapping feedback activities of the hedgehog antagonists patched 1 and Hhip1","volume":"132","author":"Jeong","year":"2005","journal-title":"Development"},{"key":"10.1016\/j.ejpn.2010.12.001_bib25","doi-asserted-by":"crossref","first-page":"2023","DOI":"10.1002\/ajmg.a.32434","article-title":"Genetic disorders associated with macrocephaly","volume":"146A","author":"Williams","year":"2008","journal-title":"Am J Med Genet A"},{"key":"10.1016\/j.ejpn.2010.12.001_bib26","doi-asserted-by":"crossref","first-page":"327","DOI":"10.1016\/j.ejpn.2004.08.005","article-title":"Autism in tuberous sclerosis","volume":"8","author":"Curatolo","year":"2004","journal-title":"Eur J Paediatr Neurol"},{"key":"10.1016\/j.ejpn.2010.12.001_bib27","doi-asserted-by":"crossref","first-page":"299","DOI":"10.1002\/(SICI)1096-8628(19970331)69:3<299::AID-AJMG16>3.0.CO;2-M","article-title":"Clinical manifestations in 105 persons with nevoid basal cell carcinoma syndrome","volume":"69","author":"Kimonis","year":"1997","journal-title":"Am J Med Genet"},{"key":"10.1016\/j.ejpn.2010.12.001_bib28","doi-asserted-by":"crossref","first-page":"339","DOI":"10.1002\/1096-8628(20001211)95:4<339::AID-AJMG9>3.0.CO;2-B","article-title":"Head circumference is an independent clinical finding associated with autism","volume":"95","author":"Miles","year":"2000","journal-title":"Am J Med Genet"},{"key":"10.1016\/j.ejpn.2010.12.001_bib29","doi-asserted-by":"crossref","first-page":"1038","DOI":"10.1016\/j.biopsych.2007.04.039","article-title":"Clinical, morphological, and biochemical correlates of head circumference in autism","volume":"62","author":"Sacco","year":"2007","journal-title":"Biol Psychiatry"}],"container-title":["European Journal of Paediatric Neurology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S1090379810001996?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S1090379810001996?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2024,4,2]],"date-time":"2024-04-02T10:28:10Z","timestamp":1712053690000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S1090379810001996"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2011,5]]},"references-count":29,"journal-issue":{"issue":"3","published-print":{"date-parts":[[2011,5]]}},"alternative-id":["S1090379810001996"],"URL":"https:\/\/doi.org\/10.1016\/j.ejpn.2010.12.001","relation":{},"ISSN":["1090-3798"],"issn-type":[{"value":"1090-3798","type":"print"}],"subject":[],"published":{"date-parts":[[2011,5]]}}}