{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,6]],"date-time":"2026-10-06T12:22:52Z","timestamp":1791289372589,"version":"4.3.0"},"reference-count":43,"publisher":"Elsevier BV","issue":"3","license":[{"start":{"date-parts":[[2013,3,1]],"date-time":"2013-03-01T00:00:00Z","timestamp":1362096000000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2013,9,10]],"date-time":"2013-09-10T00:00:00Z","timestamp":1378771200000},"content-version":"vor","delay-in-days":193,"URL":"https:\/\/www.elsevier.com\/open-access\/userlicense\/1.0\/"}],"content-domain":{"domain":["ajhg.org","elsevier.com","sciencedirect.com"],"crossmark-restriction":true},"short-container-title":["The American Journal of Human Genetics"],"published-print":{"date-parts":[[2013,3]]},"DOI":"10.1016\/j.ajhg.2013.02.005","type":"journal-article","created":{"date-parts":[[2013,3,7]],"date-time":"2013-03-07T16:00:53Z","timestamp":1362672053000},"page":"468-474","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":114,"title":["Mutations in LAMB1 Cause Cobblestone Brain Malformation without Muscular or Ocular Abnormalities"],"prefix":"10.1016","volume":"92","author":[{"given":"Farid","family":"Radmanesh","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ahmet\u00a0Okay","family":"Caglayan","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jennifer\u00a0L.","family":"Silhavy","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Cahide","family":"Yilmaz","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Vincent","family":"Cantagrel","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tarek","family":"Omar","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ba\u015fak","family":"Rosti","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hande","family":"Kaymakcalan","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Stacey","family":"Gabriel","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mingfeng","family":"Li","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nenad","family":"\u0160estan","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kaya","family":"Bilguvar","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"William\u00a0B.","family":"Dobyns","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Maha\u00a0S.","family":"Zaki","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Murat","family":"Gunel","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Joseph\u00a0G.","family":"Gleeson","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"78","reference":[{"key":"10.1016\/j.ajhg.2013.02.005_bib1","doi-asserted-by":"crossref","first-page":"154","DOI":"10.1016\/j.nbd.2009.02.008","article-title":"Neuronal migration disorders","volume":"38","author":"Guerrini","year":"2010","journal-title":"Neurobiol. Dis."},{"key":"10.1016\/j.ajhg.2013.02.005_bib2","doi-asserted-by":"crossref","first-page":"554","DOI":"10.1038\/nature08845","article-title":"Neurogenic radial glia in the outer subventricular zone of human neocortex","volume":"464","author":"Hansen","year":"2010","journal-title":"Nature"},{"key":"10.1016\/j.ajhg.2013.02.005_bib3","doi-asserted-by":"crossref","first-page":"249","DOI":"10.1016\/j.gde.2010.12.005","article-title":"We have got you \u2018covered\u2019: how the meninges control brain development","volume":"21","author":"Siegenthaler","year":"2011","journal-title":"Curr. Opin. Genet. Dev."},{"key":"10.1016\/j.ajhg.2013.02.005_bib4","doi-asserted-by":"crossref","first-page":"e1002062","DOI":"10.1371\/journal.pgen.1002062","article-title":"COL4A1 mutations cause ocular dysgenesis, neuronal localization defects, and myopathy in mice and Walker-Warburg syndrome in humans","volume":"7","author":"Labelle-Dumais","year":"2011","journal-title":"PLoS Genet."},{"key":"10.1016\/j.ajhg.2013.02.005_bib5","doi-asserted-by":"crossref","first-page":"1109","DOI":"10.1083\/jcb.147.5.1109","article-title":"Perlecan maintains the integrity of cartilage and some basement membranes","volume":"147","author":"Costell","year":"1999","journal-title":"J. Cell Biol."},{"key":"10.1016\/j.ajhg.2013.02.005_bib6","doi-asserted-by":"crossref","first-page":"12925","DOI":"10.1073\/pnas.1104821108","article-title":"G protein-coupled receptor 56 and collagen III, a receptor-ligand pair, regulates cortical development and lamination","volume":"108","author":"Luo","year":"2011","journal-title":"Proc. Natl. Acad. Sci. USA"},{"key":"10.1016\/j.ajhg.2013.02.005_bib7","doi-asserted-by":"crossref","first-page":"501","DOI":"10.1016\/S0896-6273(03)00666-4","article-title":"FAK deficiency in cells contributing to the basal lamina results in cortical abnormalities resembling congenital muscular dystrophies","volume":"40","author":"Beggs","year":"2003","journal-title":"Neuron"},{"key":"10.1016\/j.ajhg.2013.02.005_bib8","doi-asserted-by":"crossref","first-page":"983","DOI":"10.1016\/S0960-9822(98)70402-6","article-title":"Essential role of alpha 6 integrins in cortical and retinal lamination","volume":"8","author":"Georges-Labouesse","year":"1998","journal-title":"Curr. Biol."},{"key":"10.1016\/j.ajhg.2013.02.005_bib9","doi-asserted-by":"crossref","first-page":"367","DOI":"10.1016\/S0896-6273(01)00374-9","article-title":"Beta1-class integrins regulate the development of laminae and folia in the cerebral and cerebellar cortex","volume":"31","author":"Graus-Porta","year":"2001","journal-title":"Neuron"},{"key":"10.1016\/j.ajhg.2013.02.005_bib10","doi-asserted-by":"crossref","first-page":"152","DOI":"10.1016\/j.spen.2005.10.003","article-title":"The dystroglycanopathies: the new disorders of O-linked glycosylation","volume":"12","author":"Martin","year":"2005","journal-title":"Semin. Pediatr. Neurol."},{"key":"10.1016\/j.ajhg.2013.02.005_bib11","doi-asserted-by":"crossref","first-page":"469","DOI":"10.1093\/brain\/awr357","article-title":"Cobblestone lissencephaly: neuropathological subtypes and correlations with genes of dystroglycanopathies","volume":"135","author":"Devisme","year":"2012","journal-title":"Brain"},{"key":"10.1016\/j.ajhg.2013.02.005_bib12","doi-asserted-by":"crossref","first-page":"320","DOI":"10.1016\/S0959-437X(02)00305-2","article-title":"Smooth, rough and upside-down neocortical development","volume":"12","author":"Olson","year":"2002","journal-title":"Curr. Opin. Genet. Dev."},{"key":"10.1016\/j.ajhg.2013.02.005_bib13","doi-asserted-by":"crossref","first-page":"623","DOI":"10.1016\/j.tig.2007.09.003","article-title":"Genetic mechanisms underlying abnormal neuronal migration in classical lissencephaly","volume":"23","author":"Kerjan","year":"2007","journal-title":"Trends Genet."},{"key":"10.1016\/j.ajhg.2013.02.005_bib14","doi-asserted-by":"crossref","first-page":"278","DOI":"10.1016\/j.gde.2011.02.001","article-title":"Dystroglycanopathies: coming into focus","volume":"21","author":"Godfrey","year":"2011","journal-title":"Curr. Opin. Genet. Dev."},{"key":"10.1016\/j.ajhg.2013.02.005_bib15","doi-asserted-by":"crossref","first-page":"70","DOI":"10.1055\/s-2007-973752","article-title":"Cobblestone lissencephaly with normal eyes and muscle","volume":"27","author":"Dobyns","year":"1996","journal-title":"Neuropediatrics"},{"key":"10.1016\/j.ajhg.2013.02.005_bib16","doi-asserted-by":"crossref","first-page":"342","DOI":"10.1016\/j.braindev.2009.11.006","article-title":"Bilateral occipital cortical dysplasia and white matter T2 hyperintensity with mild non-specific myopathy: two sibling cases","volume":"32","author":"Okanishi","year":"2010","journal-title":"Brain Dev."},{"key":"10.1016\/j.ajhg.2013.02.005_bib17","doi-asserted-by":"crossref","first-page":"1020","DOI":"10.1002\/humu.20561","article-title":"Molecular heterogeneity in fetal forms of type II lissencephaly","volume":"28","author":"Bouchet","year":"2007","journal-title":"Hum. Mutat."},{"key":"10.1016\/j.ajhg.2013.02.005_bib18","doi-asserted-by":"crossref","first-page":"1802","DOI":"10.1212\/01.wnl.0000346518.68110.60","article-title":"Congenital muscular dystrophies with defective glycosylation of dystroglycan: a population study","volume":"72","author":"Mercuri","year":"2009","journal-title":"Neurology"},{"key":"10.1016\/j.ajhg.2013.02.005_bib19","doi-asserted-by":"crossref","first-page":"177","DOI":"10.1007\/s10735-010-9275-5","article-title":"Tissue distribution of the laminin beta1 and beta2 chain during embryonic and fetal human development","volume":"41","author":"Roediger","year":"2010","journal-title":"J. Mol. Histol."},{"key":"10.1016\/j.ajhg.2013.02.005_bib20","doi-asserted-by":"crossref","first-page":"410","DOI":"10.1212\/01.wnl.0000333256.74903.94","article-title":"Midbrain-hindbrain involvement in lissencephalies","volume":"72","author":"Jissendi-Tchofo","year":"2009","journal-title":"Neurology"},{"key":"10.1016\/j.ajhg.2013.02.005_bib21","doi-asserted-by":"crossref","first-page":"7","DOI":"10.3389\/fnana.2012.00007","article-title":"Developmental disorders of the midbrain and hindbrain","volume":"6","author":"Barkovich","year":"2012","journal-title":"Front. Neuroanat."},{"key":"10.1016\/j.ajhg.2013.02.005_bib22","doi-asserted-by":"crossref","first-page":"394","DOI":"10.1126\/science.1224631","article-title":"Mutations in BCKD-kinase lead to a potentially treatable form of autism with epilepsy","volume":"338","author":"Novarino","year":"2012","journal-title":"Science"},{"key":"10.1016\/j.ajhg.2013.02.005_bib23","doi-asserted-by":"crossref","first-page":"1074","DOI":"10.1038\/ng.944","article-title":"Inverted genomic segments and complex triplication rearrangements are mediated by inverted repeats in the human genome","volume":"43","author":"Carvalho","year":"2011","journal-title":"Nat. Genet."},{"key":"10.1016\/j.ajhg.2013.02.005_bib24","doi-asserted-by":"crossref","first-page":"113","DOI":"10.1038\/nmeth712","article-title":"A highly informative SNP linkage panel for human genetic studies","volume":"1","author":"Murray","year":"2004","journal-title":"Nat. Methods"},{"key":"10.1016\/j.ajhg.2013.02.005_bib25","doi-asserted-by":"crossref","first-page":"2483","DOI":"10.1167\/iovs.06-1211","article-title":"Laminin beta1 and gamma1 containing laminins are essential for basement membrane integrity in the zebrafish eye","volume":"48","author":"Lee","year":"2007","journal-title":"Invest. Ophthalmol. Vis. Sci."},{"key":"10.1016\/j.ajhg.2013.02.005_bib26","doi-asserted-by":"crossref","first-page":"13","DOI":"10.1016\/S0925-4773(01)00326-4","article-title":"cis-acting DNA regulatory elements, including the retinoic acid response element, are required for tissue specific laminin B1 promoter\/lacZ expression in transgenic mice","volume":"103","author":"Sharif","year":"2001","journal-title":"Mech. Dev."},{"key":"10.1016\/j.ajhg.2013.02.005_bib27","doi-asserted-by":"crossref","first-page":"967","DOI":"10.1016\/j.neuroscience.2004.03.064","article-title":"Differential regulation of laminin b1 transgene expression in the neonatal and adult mouse brain","volume":"126","author":"Sharif","year":"2004","journal-title":"Neuroscience"},{"key":"10.1016\/j.ajhg.2013.02.005_bib28","doi-asserted-by":"crossref","first-page":"357","DOI":"10.1006\/geno.1994.1627","article-title":"A homozygous nonsense mutation in the beta 3 chain gene of laminin 5 (LAMB3) in Herlitz junctional epidermolysis bullosa","volume":"24","author":"Pulkkinen","year":"1994","journal-title":"Genomics"},{"key":"10.1016\/j.ajhg.2013.02.005_bib29","doi-asserted-by":"crossref","first-page":"2625","DOI":"10.1093\/hmg\/ddh284","article-title":"Human laminin beta2 deficiency causes congenital nephrosis with mesangial sclerosis and distinct eye abnormalities","volume":"13","author":"Zenker","year":"2004","journal-title":"Hum. Mol. Genet."},{"key":"10.1016\/j.ajhg.2013.02.005_bib30","doi-asserted-by":"crossref","first-page":"241","DOI":"10.1016\/j.nmd.2010.02.001","article-title":"Genotype-phenotype correlation in a large population of muscular dystrophy patients with LAMA2 mutations","volume":"20","author":"Geranmayeh","year":"2010","journal-title":"Neuromuscul. Disord."},{"key":"10.1016\/j.ajhg.2013.02.005_bib31","doi-asserted-by":"crossref","first-page":"590","DOI":"10.1038\/ng.836","article-title":"Recessive LAMC3 mutations cause malformations of occipital cortical development","volume":"43","author":"Barak","year":"2011","journal-title":"Nat. Genet."},{"key":"10.1016\/j.ajhg.2013.02.005_bib32","doi-asserted-by":"crossref","first-page":"209","DOI":"10.1002\/dneu.22057","article-title":"beta2 and gamma3 laminins are critical cortical basement membrane components: Ablation of Lamb2 and Lamc3 genes disrupts cortical lamination and produces dysplasia","volume":"73","author":"Radner","year":"2013","journal-title":"Dev. Neurobiol."},{"key":"10.1016\/j.ajhg.2013.02.005_bib33","doi-asserted-by":"crossref","first-page":"483","DOI":"10.1038\/nature10523","article-title":"Spatio-temporal transcriptome of the human brain","volume":"478","author":"Kang","year":"2011","journal-title":"Nature"},{"key":"10.1016\/j.ajhg.2013.02.005_bib34","doi-asserted-by":"crossref","first-page":"4712","DOI":"10.1523\/JNEUROSCI.5735-07.2008","article-title":"Zic deficiency in the cortical marginal zone and meninges results in cortical lamination defects resembling those in type II lissencephaly","volume":"28","author":"Inoue","year":"2008","journal-title":"J. Neurosci."},{"key":"10.1016\/j.ajhg.2013.02.005_bib35","doi-asserted-by":"crossref","first-page":"1053","DOI":"10.1038\/ng1420","article-title":"Heterozygous deletion of the linked genes ZIC1 and ZIC4 is involved in Dandy-Walker malformation","volume":"36","author":"Grinberg","year":"2004","journal-title":"Nat. Genet."},{"key":"10.1016\/j.ajhg.2013.02.005_bib36","doi-asserted-by":"crossref","first-page":"3194","DOI":"10.1093\/brain\/awq259","article-title":"GPR56-related bilateral frontoparietal polymicrogyria: further evidence for an overlap with the cobblestone complex","volume":"133","author":"Bahi-Buisson","year":"2010","journal-title":"Brain"},{"key":"10.1016\/j.ajhg.2013.02.005_bib37","doi-asserted-by":"crossref","first-page":"99","DOI":"10.1006\/jmbi.1998.2004","article-title":"Nidogen-2: a new basement membrane protein with diverse binding properties","volume":"282","author":"Kohfeldt","year":"1998","journal-title":"J. Mol. Biol."},{"key":"10.1016\/j.ajhg.2013.02.005_bib38","doi-asserted-by":"crossref","first-page":"e29767","DOI":"10.1371\/journal.pone.0029767","article-title":"Loss of Col3a1, the gene for Ehlers-Danlos syndrome type IV, results in neocortical dyslamination","volume":"7","author":"Jeong","year":"2012","journal-title":"PLoS ONE"},{"key":"10.1016\/j.ajhg.2013.02.005_bib39","doi-asserted-by":"crossref","first-page":"911","DOI":"10.1016\/j.neuron.2011.12.030","article-title":"A radial glia-specific role of RhoA in double cortex formation","volume":"73","author":"Cappello","year":"2012","journal-title":"Neuron"},{"key":"10.1016\/j.ajhg.2013.02.005_bib40","doi-asserted-by":"crossref","first-page":"158","DOI":"10.1016\/j.ydbio.2008.12.006","article-title":"Cortical deficiency of laminin gamma1 impairs the AKT\/GSK-3beta signaling pathway and leads to defects in neurite outgrowth and neuronal migration","volume":"327","author":"Chen","year":"2009","journal-title":"Dev. Biol."},{"key":"10.1016\/j.ajhg.2013.02.005_bib41","doi-asserted-by":"crossref","first-page":"488","DOI":"10.1007\/s00247-011-2242-9","article-title":"Walker-Warburg syndrome diagnosed by findings of typical ocular abnormalities on prenatal ultrasound","volume":"42","author":"Brasseur-Daudruy","year":"2012","journal-title":"Pediatr. Radiol."},{"key":"10.1016\/j.ajhg.2013.02.005_bib42","doi-asserted-by":"crossref","first-page":"1135","DOI":"10.1016\/j.ajhg.2012.10.009","article-title":"Identification of mutations in TMEM5 and ISPD as a cause of severe cobblestone lissencephaly","volume":"91","author":"Vuillaumier-Barrot","year":"2012","journal-title":"Am. J. Hum. Genet."},{"key":"10.1016\/j.ajhg.2013.02.005_bib43","doi-asserted-by":"crossref","first-page":"2051","DOI":"10.1093\/hmg\/9.13.2051","article-title":"Collagen XVIII, containing an endogenous inhibitor of angiogenesis and tumor growth, plays a critical role in the maintenance of retinal structure and in neural tube closure (Knobloch syndrome)","volume":"9","author":"Serti\u00e9","year":"2000","journal-title":"Hum. Mol. Genet."}],"container-title":["The American Journal of Human Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0002929713000761?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0002929713000761?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2018,10,18]],"date-time":"2018-10-18T02:53:11Z","timestamp":1539831191000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S0002929713000761"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2013,3]]},"references-count":43,"journal-issue":{"issue":"3","published-print":{"date-parts":[[2013,3]]}},"alternative-id":["S0002929713000761"],"URL":"https:\/\/doi.org\/10.1016\/j.ajhg.2013.02.005","relation":{},"ISSN":["0002-9297"],"issn-type":[{"value":"0002-9297","type":"print"}],"subject":[],"published":{"date-parts":[[2013,3]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"Mutations in LAMB1 Cause Cobblestone Brain Malformation without Muscular or Ocular Abnormalities","name":"articletitle","label":"Article Title"},{"value":"The American Journal of Human Genetics","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.ajhg.2013.02.005","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"Copyright \u00a9 2013 The American Society of Human Genetics. Published by Elsevier Inc. All rights reserved.","name":"copyright","label":"Copyright"}]}}