AuthorYearJournalPagesVolumeTitle# Mutation links# FamiliesWeblinkDetails
Basel-Vanagaite et al.2006Clin Genet414-41969Expanding the phenotypic spectrum of L1CAM-associated disease11 16650080 Details
Bateman et al.1996EMBO J. 6050-605915 No. 22Outline structure of the human L1 cell adhesion molecule and the sites where mutations cause neurological disorders. 10 8947027 Details
Bertolin et al2010J. Neurol Sc124-126294Novel mutations in the L1CAM gene support the complexity of L1 syndrome77 20447653 Details
Bott et al.2004Am J med Genet A84-87130Congenital idiopathic intestinal pseudo-obstruction and hydrocephalus with stenosis of the aqueduct of sylvius11 15368500 Details
Brewer et al.1996Dev Med Child Neurol359-36338X-linked hydrocephalus masquerading as spina bifida and destructive porencephaly in successive generations in one family01 8641541 Details
Cheng and Lemmon2004Mol. Cell. Neurosci. 522-53027Pathological missense mutations of neural cell adhesion molecule L1 affect neurite outgrowth and branching on an L1 substrate50 15555929 Details
Claes et al.1998Hum. Mutat. S240-S241Suppl 1Hydrocephalus and spastic paraplegia result from a donor splice site mutation (287+1GtoA) in the L1CAM gene in a Venezuelan pedigree11 9452098 Details
Coucke et al.1994Hum. Mol. Genet.671-6733Identification of a 5' splice site mutation in intron 4 of the L1CAM gene in an X-linked hydrocephalus family11 8069317 Details
De Angelis et al.1999EMBO J. 4744-445318 No. 17Pathological missense mutations of neural cell adhesion molecule L1 affect homophilic and heterophilic binding activities. 133 10469653 Details
De Angelis et al.2002Hum. Mol. Genet.1-1211Disease-associated mutations in L1 CAM interfere with ligand interactions and cell-surface expression251 11772994 Details
Du et al.1998aJ. Med. Genet. 456-46235A silent mutation, C924T (G308G), in the L1CAM gene results in X-linked hydrocephalus (HSAS)11 9643285 Details
Du et al.1998bHum. Mutat.222-23011Multiple exon screening using restriction endonucleases fingerprinting (REF): Detection of six novel mutations in the L1 cell adhesion molecule (L1CAM) gene67 9521424 Details
Du et al.1998cAm. J. Med. Genet.200-20275Somatic and germ line mosaicism and mutation origin for a mutation in the L1 gene in a family with X-linked hydrocephalus11 9450886 Details
Fernandez et al.2012Am J Med Genet A 816-820158AAssociation of X-linked Hydrocephalus and Hirschsprung disease: Report af a new patient with a mutation in the L1CAM gene11 22344793 Details
Finckh et al.2000Am. J. Med. Genet.40-4692Spectrum and detection rate of L1CAM mutations in isolated and familial cases with clinically suspected L1-disease4344 10797421 Details
Forrest et al.1994Am. J. Hum. Genet.A21955Mutation detection in X-linked hydrocephalus21 Details
Fransen et al.1994Hum. Mol. Genet.2255-22563X-linked hydrocephalus and MASA syndrome present in one family are due to a single missense mutation in exon 28 of the L1CAM gene11 7881431 Details
Fransen et al.1996Am. J. Med. Genet.73-7764The clinical spectrum of mutations in L1, a neuronal cell adhesion molecule88 8826452 Details
Fransen et al.1997Hum. Mol. Genet.1625-16326L1-associated diseases: clinical geneticists divide, molecular geneticists unite1614 9300653 Details
Fryns et al.1991J. Med. Genet.429-43128X-linked complicated spastic paraplegia, MASA syndrome and X-linked hydrocephaly due to congenital stenosis of the aqueduct of Sylvius: a variable expression of the same mutation at Xq2811 1870106 Details
Gal J. Personal communication   65 Details
Graf et al.2000Ann. Neurol.113-11747Diffusion-weighted magnetic resonance imaging in boys with neural cell adhesion molecule L1 mutations and congenital hydrocephalus44 10632110 Details
Griseri et al2009Eur J Hum Genet483-49017(4)Complex pathogenesis of Hirschsprung's disease in a patient with hydrocephalus, vesico-ureteral reflux and a balanced translocation t(3;17)(p12;q11)11 19300444 Details
Gu et al.1996J. Med. Genet.103-10633Five novel mutations in the L1CAM gene in families with X linked hydrocephalus55 8929944 Details
Gu et al.1997Am. J. Med. Genet.336-34071Molecular analysis of the L1CAM gene in patients with X-linked hydrocephalus reveals eight novel mutations and suggests non-allelic genetic heterogeneity of the trait98 9268105 Details
Hiraki et al.2008Am J med Genet A1241-1247146ATwo new cases of pure 1q terminal deletion presenting with brain malformations11 18384145 Details
Hlavin and Lemmon1991Genomics416-42311Molecular structure and functional testing of human L1CAM00 1769655 Details
Hofstra et al.2002J. Med. Genetel 139 Hirschsprung disease and L1CAM: is the disturbed sex ratio caused by L1CAM mutations?11 11897831 Details
Hubner et al2004Hum Mutat52623(5)Intronic mutations in the L1CAM gene may cause X-linked hydrocephalus by aberrant splicing77 15108295 Details
Izumoto et al.1996Child's Nerv Syst742-74712A new mutation of the L1CAM gene in an X-linked hydrocephalus family11 9118141 Details
Jackson et al.2009Pediatr Surg Int823-82525(9)L1CAM mutation in association with X-linked hydrocephalus and Hirschsprung's disease11 19641926 Details
Jouet et al.1993aJ. Med. Genet.214-21730Refining the genetic localisation of the gene for X-linked hydrocephalus within Xq2833 8474107 Details
Jouet et al.1993bNat. Genet.3314A missense mutation confirms the L1 defect in X-linked hydrocephalus (HSAS)10 8401576 Details
Jouet et al.1994Nat. Genet.402-4077X-linked spastic paraplegia (SPG1), MASA syndrome and X-linked hydrocephalus result from mutations in the L1 gene77 7920659 Details
Jouet et al.1995aAm. J. Hum. Genet.1304-131456New domains of neural cell-adhesion molecule L1 implicated in X-linked hydrocephalus and MASA syndrome99 7762552 Details
Jouet and Kenwrick1995cLancet161-162345Gene analysis of L1 neural cell adhesion molecule in prenatal diagnosis of hydrocephalus11 7823673 Details
Jouet et al.1996J. Med. Genet.218-25033Discordant segregation of Xq28 markers and a mutation in the L1 gene in a family with X linked hydrocephalus11 8728703 Details
Kaepernick et al.1994Clin. Genet.181-18545Clinical aspects of MASA syndrome in a large family, including expressing females11 8062435 Details
Kanemura et al2005Congenital Anomalies67-6945First case of L1CAM gene mutation identified in MASA syndrome in Asia11 15904436 Details
Kanemura et al2006J Neurosurg: Pediatrics403-412105Molecular mechanisms and neuroimaging criteria for severe L1 syndrome with X-linked hydrocephalus2425 17328266 Details
Kaplan1983J. Med. Genet.122-12420X-linked recessive inheritance of agenesis of the corpus callosum01 6682447 Details
Kenwrick ?   11 Details
Kenwrick et al.2000Hum. Mol. Genet.879-8869Neural cell recognition molecule L1: relating biological complexity to human disease mutations370 10767310 Details
Knops et al.2008Am J med Genet A1853-1858146ANephrogenic diabetes insipidus in a patient with L1 syndrome: a new report of a contiguous gene deletion syndrome including L1CAM and AVPR211 18553546 Details
Liebau et al.2007Pediatr Nephrol1058-106122L1CAM mutation in a boy with hydrocephalus and duplex kidneys11 17294222 Details
MacFarlane et al.1997Hum. Mutat.512-5189Nine novel L1CAM mutations in families with X-linked Hydrocephalus1010 9195224 Details
Macias et al.1992Genet.408-41443Clasped-thumb mental retardation (MASA) syndrome: confirmation of linkage to Xq2801 1605219 Details
Marx et al2012Neurogenetics49-5913Pathomechanistic characterization of two exonic L1CAM variants located in trans in an obligate carrier of X-linked hydrocephalus11 22222883 Details
Michelson et al.2002Hum. Mutat.481-48220Missense mutations in the extracellular domain of the human neural cell adhesion molecule L1 reduce neurite outgrowth of murine cerebellar neurons40 12442287 Details
Moya et al.2002Fetal Diagn. Ther.115-11917Prenatal diagnosis of L1 cell adhesion molecule mutations11 11844917 Details
Nagaraj et al.2009Hum. Mol. Genet.3822-383118 (20)Pathogenic human L1-CAM mutations reduce the adhesion-dependent activation of EGFR20 19617634 Details
Nakakimura et al.2008J Pediatr SurgE13-E1743(5)Hirschsprung's disease, acrocallosal syndrome, and congenital hydrocephalus: report of 2 patients and literature review11 18485929 Details
Nunes et al2009Eur Radiol1-4Epub ahead of printCongenital hydrocephalus and L1 disease: a case report (2009: 7b)11 19714335 Details
Okamoto et al.1996Jpn J Hum Genet431-43741A novel mutation in L1CAM gene in a Japanese patient with X-linked hydrocephalus11 9088116 Details
Okamoto et al.1997aJ. Med. Genet.670-67134Hydrocephalus and Hirschprung's disease in a patient with a mutation of L1CAM11 15148591 Details
Okamoto et al.2004J Hum Genet334-33749Hydrocephalus and Hirschsprung's disease with a mutation of L1CAM32 15148591 Details
Panayi et al2005Prenat Diagn930-93325(10)Prenatal diagnosis in a family with X-linked hydrocephalus11 16088863 Details
Parisi et al2002Am J med Genet A51-56108Hydrocephalus and intestinal aganglionosis: is L1CAM a modifier gene in Hirschsprung disease?11 11857550 Details
Piccione et al.2009Eur J Pediatr1-5Epub ahead of printA novel L1CAM mutation in a fetus detected by prenatal diagnosis11 19685344 Details
Pomili et al.2000Prenat Diagn1012-101420MASA syndrome: ultrasonographic evidence in a male fetus11 11113917 Details
Rehnberg et al.2010Am J med Genet A439-441155Novel L1CAM Splice Site Mutation in a young Male with L1 syndrome11 21182018 Details
Reid and Hemperly.1992J. Mol. Neurosci.127-1353Variants of human L1-cell adhesion molecule arise through alternate splicing of RNA00 9088116 Details
Rodriguez et al.2003Genet Couns57-6514X-linked hydrocephalus: another two families with an L1 mutation11 12725590 Details
Rosenthal et al.1992Nat. Genet.107-1122Aberrant splicing of neural cell adhesion molecule L1 messenger RNA in a family with X-linked hydrocephalus11 1303258 Details
Ruiz et al.1995J. Med. Genet.549-55232Mutations in L1-CAM in two families with X linked complicated spastic paraplegia, MASA syndrome, and HSAS22 7562969 Details
Rünker et al.2003J. Neurosc277-28623(1)The C264Y missense mutation in the extracellular domain of L1 impairs protein trafficking in vitro and in vivo10 12514225 Details
Saugier-Veber et al.1998Hum. Mutat.259-26612Identification of novel L1CAM mutations using fluorescence-assisted mismatch analysis1010 9744477 Details
Schrander-Stumpel et al.1990J. Med. Genet.688-69227MASA syndrome: new clinical features and linkage analysis using DNA probes01 2277384 Details
Senat et al.2001Prenat Diagn1129-113221(13)Prenatal diagnosis of hydrocephalus-stenosis of the aqueduct of Sylvius by ultrasound in the first trimester of pregnancy. Report of two cases11 11787037 Details
Serville et al.1992Eur. J. Pediatr.515-518151X-linked hydrocephalus: clinical heterogeneity at a single gene locus11 1396913 Details
Silan et al2005Prenat Diagn57-5925(1)A novel L1CAM mutation with L1 spectrum disorders11 15662685 Details
Simonati et al.2006Neurol Sci114-11727A novel missense mutation in the L1CAM gene in a boy with L1 disease11 16816908 Details
Strain et al1994Am J med Genet A236-24354(2)Genetic heterogeneity in X-linked hydrocephalus: linkage to markers within Xq27.301 8304340 Details
Straussberg et al.1991Clin. Genet.337-34140X-linked mental retardation with bilateral clasped thumbs: report of another affected family11 1756607 Details
Sztriha et al.2000J. Child Neurol.239-24315(4)Novel missense mutation in the L1 gene in a child with corpus callosum agenesis, retardation, adducted thumbs, spastic paraparesis, and hydrocephalus11 10805190 Details
Sztriha et al.2002Pediatr. Neurol.293-29627X-linked hydrocephalus: a novel missense mutation in the L1CAM gene11 12435569 Details
Takahashi et al.1997Brain & Development559-56219L1CAM mutation in a Japanese family with X-linked hydrocephalus: a study for genetic counseling11 9440802 Details
Takechi et al.1996Hum. Genet.353-35697A deletion of five nucleotides in the L1CAM gene in a Japanese family with X-linked hydrocephalus11 8786080 Details
Tegay et al.2007Am J med Genet A594-598143(6)Contiguous gene deletion involving L1CAM and AVPR2 causes X-linked hydrocephalus with nephrogenic diabetes insipidus11 17318848 Details
Van Camp et al.1993Nat. Genet.421-4254A duplication in the L1CAM gene associated with X-linked hydrocephalus11 8401593 Details
Vits et al.1994Nat. Genet.408-4137MASA syndrome is due to mutations in the neural cell adhesion gene L1CAM33 7920660 Details
Vits et al.1998Hum. Mutation Suppl.284-2871Evidence for somatic and germline mosaicism in CRASH syndrome11 9452110 Details
Vos et al.2010J.Med.Genet169-17547(3)Genotype-phenotype correlations in L1 syndrome: a guide for genetic counselling and mutation analysis6670 19846429 Details
Vos et al.2010To be published   31 Details
Willems et al.1987Am. J. Med. Genet.921-92827X-linked hydrocephalus01 3425602 Details
Wilson et al.2009Genet Test Mol Biomarkers515-51913(4)Prenatal identification of a novel R937P L1CAM missense mutation11 19594370 Details
Winter et al.1989Hum. Genet.367-37083MASA syndrome: further clinical delineation and chromosomal localisation01 2737668 Details
Y.Zarate Personal communication   11 Details
Yeatman1984Am. J. Med. Genet.339-34417Mental retardation-clasped thumb syndrome01 6538754 Details
Zhao and Siu1996J. Biol. Chem.6563-6566271Differential effects of two hydrocephalus/MASA syndrome-related mutations on the homophilic binding and neuritogenic activities of the cell adhesion molecule L120 8636066 Details