"Molecular cloning of cell adhesion molecule L1 from human nervous tissue: a comparison of the primary sequences of L1 molecules of different origin."
Kobayashi M. , Miura M. , Asou H. , Uyemura K.
Biochim. Biophys. Acta1090:238-240(1991) [PubMed] [Europe PMC] [Abstract]

"Molecular structure and functional testing of human L1CAM: an interspecies comparison."
Hlavin M.L. , Lemmon V.
Genomics11:416-423(1991) [PubMed] [Europe PMC] [Abstract]

"Variants of human L1 cell adhesion molecule arise through alternate splicing of RNA."
Reid R.A. , Hemperly J.J.
J. Mol. Neurosci.3:127-135(1992) [PubMed] [Europe PMC] [Abstract]

"Genomic organization of two novel genes on human Xq28: compact head to head arrangement of IDH gamma and TRAP delta is conserved in rat and mouse."
Brenner V. , Nyakatura G. , Rosenthal A. , Platzer M.
Genomics44:8-14(1997) [PubMed] [Europe PMC] [Abstract]

"The neural cell adhesion molecule L1: genomic organisation and differential splicing is conserved between man and the pufferfish Fugu."
Coutelle O. , Nyakatura G. , Taudien S. , Elgar G. , Brenner S. , Platzer M. , Drescher B. , Jouet M. , Kenwrick S. , Rosenthal A.
Gene208:7-15(1998) [PubMed] [Europe PMC] [Abstract]

Son Y.S.
Submitted (2007-03) to the EMBL/GenBank/DDBJ databases

"The DNA sequence of the human X chromosome."
Ross M.T. , Grafham D.V. , Coffey A.J. , Scherer S. , McLay K. , Muzny D. , Platzer M. , Howell G.R. , Burrows C. , Bird C.P. , Frankish A. , Lovell F.L. , Howe K.L. , Ashurst J.L. , Fulton R.S. , Sudbrak R. , Wen G. , Jones M.C. , Hurles M.E. , Andrews T.D. , Scott C.E. , Searle S. , Ramser J. , Whittaker A. , Deadman R. , Carter N.P. , Hunt S.E. , Chen R. , Cree A. , Gunaratne P. , Havlak P. , Hodgson A. , Metzker M.L. , Richards S. , Scott G. , Steffen D. , Sodergren E. , Wheeler D.A. , Worley K.C. , Ainscough R. , Ambrose K.D. , Ansari-Lari M.A. , Aradhya S. , Ashwell R.I. , Babbage A.K. , Bagguley C.L. , Ballabio A. , Banerjee R. , Barker G.E. , Barlow K.F. , Barrett I.P. , Bates K.N. , Beare D.M. , Beasley H. , Beasley O. , Beck A. , Bethel G. , Blechschmidt K. , Brady N. , Bray-Allen S. , Bridgeman A.M. , Brown A.J. , Brown M.J. , Bonnin D. , Bruford E.A. , Buhay C. , Burch P. , Burford D. , Burgess J. , Burrill W. , Burton J. , Bye J.M. , Carder C. , Carrel L. , Chako J. , Chapman J.C. , Chavez D. , Chen E. , Chen G. , Chen Y. , Chen Z. , Chinault C. , Ciccodicola A. , Clark S.Y. , Clarke G. , Clee C.M. , Clegg S. , Clerc-Blankenburg K. , Clifford K. , Cobley V. , Cole C.G. , Conquer J.S. , Corby N. , Connor R.E. , David R. , Davies J. , Davis C. , Davis J. , Delgado O. , Deshazo D. , Dhami P. , Ding Y. , Dinh H. , Dodsworth S. , Draper H. , Dugan-Rocha S. , Dunham A. , Dunn M. , Durbin K.J. , Dutta I. , Eades T. , Ellwood M. , Emery-Cohen A. , Errington H. , Evans K.L. , Faulkner L. , Francis F. , Frankland J. , Fraser A.E. , Galgoczy P. , Gilbert J. , Gill R. , Gloeckner G. , Gregory S.G. , Gribble S. , Griffiths C. , Grocock R. , Gu Y. , Gwilliam R. , Hamilton C. , Hart E.A. , Hawes A. , Heath P.D. , Heitmann K. , Hennig S. , Hernandez J. , Hinzmann B. , Ho S. , Hoffs M. , Howden P.J. , Huckle E.J. , Hume J. , Hunt P.J. , Hunt A.R. , Isherwood J. , Jacob L. , Johnson D. , Jones S. , de Jong P.J. , Joseph S.S. , Keenan S. , Kelly S. , Kershaw J.K. , Khan Z. , Kioschis P. , Klages S. , Knights A.J. , Kosiura A. , Kovar-Smith C. , Laird G.K. , Langford C. , Lawlor S. , Leversha M. , Lewis L. , Liu W. , Lloyd C. , Lloyd D.M. , Loulseged H. , Loveland J.E. , Lovell J.D. , Lozado R. , Lu J. , Lyne R. , Ma J. , Maheshwari M. , Matthews L.H. , McDowall J. , McLaren S. , McMurray A. , Meidl P. , Meitinger T. , Milne S. , Miner G. , Mistry S.L. , Morgan M. , Morris S. , Mueller I. , Mullikin J.C. , Nguyen N. , Nordsiek G. , Nyakatura G. , O'dell C.N. , Okwuonu G. , Palmer S. , Pandian R. , Parker D. , Parrish J. , Pasternak S. , Patel D. , Pearce A.V. , Pearson D.M. , Pelan S.E. , Perez L. , Porter K.M. , Ramsey Y. , Reichwald K. , Rhodes S. , Ridler K.A. , Schlessinger D. , Schueler M.G. , Sehra H.K. , Shaw-Smith C. , Shen H. , Sheridan E.M. , Shownkeen R. , Skuce C.D. , Smith M.L. , Sotheran E.C. , Steingruber H.E. , Steward C.A. , Storey R. , Swann R.M. , Swarbreck D. , Tabor P.E. , Taudien S. , Taylor T. , Teague B. , Thomas K. , Thorpe A. , Timms K. , Tracey A. , Trevanion S. , Tromans A.C. , d'Urso M. , Verduzco D. , Villasana D. , Waldron L. , Wall M. , Wang Q. , Warren J. , Warry G.L. , Wei X. , West A. , Whitehead S.L. , Whiteley M.N. , Wilkinson J.E. , Willey D.L. , Williams G. , Williams L. , Williamson A. , Williamson H. , Wilming L. , Woodmansey R.L. , Wray P.W. , Yen J. , Zhang J. , Zhou J. , Zoghbi H. , Zorilla S. , Buck D. , Reinhardt R. , Poustka A. , Rosenthal A. , Lehrach H. , Meindl A. , Minx P.J. , Hillier L.W. , Willard H.F. , Wilson R.K. , Waterston R.H. , Rice C.M. , Vaudin M. , Coulson A. , Nelson D.L. , Weinstock G. , Sulston J.E. , Durbin R.M. , Hubbard T. , Gibbs R.A. , Beck S. , Rogers J. , Bentley D.R. more...
Nature434:325-337(2005) [PubMed] [Europe PMC] [Abstract]

Mural R.J. , Istrail S. , Sutton G. , Florea L. , Halpern A.L. , Mobarry C.M. , Lippert R. , Walenz B. , Shatkay H. , Dew I. , Miller J.R. , Flanigan M.J. , Edwards N.J. , Bolanos R. , Fasulo D. , Halldorsson B.V. , Hannenhalli S. , Turner R. , Yooseph S. , Lu F. , Nusskern D.R. , Shue B.C. , Zheng X.H. , Zhong F. , Delcher A.L. , Huson D.H. , Kravitz S.A. , Mouchard L. , Reinert K. , Remington K.A. , Clark A.G. , Waterman M.S. , Eichler E.E. , Adams M.D. , Hunkapiller M.W. , Myers E.W. , Venter J.C. more...
Submitted (2005-09) to the EMBL/GenBank/DDBJ databases

"The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
The MGC Project Team
Genome Res.14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]

"A human brain glycoprotein related to the mouse cell adhesion molecule L1."
Wolff J.M. , Frank R. , Mujoo K. , Spiro R.C. , Reisfeld R.A. , Rathjen F.G.
J. Biol. Chem.263:11943-11947(1988) [PubMed] [Europe PMC] [Abstract]

"The gene encoding L1, a neural adhesion molecule of the immunoglobulin family, is located on the X chromosome in mouse and man."
Djabali M. , Mattei M.-G. , Nguyen C. , Roux D. , Demengeot J. , Denizot F. , Moos M. , Schachner M. , Goridis C. , Jordan B.R.
Genomics7:587-593(1990) [PubMed] [Europe PMC] [Abstract]

"PCR walking from microdissection clone M54 identifies three exons from the human gene for the neural cell adhesion molecule L1 (CAM-L1)."
Rosenthal A. , Mackinnon R.N. , Jones D.S.C.
Nucleic Acids Res.19:5395-5401(1991) [PubMed] [Europe PMC] [Abstract]

"Isolation and sequence of partial cDNA clones of human L1: homology of human and rodent L1 in the cytoplasmic region."
Harper J.R. , Prince J.T. , Healy P.A. , Stuart J.K. , Nauman S.J. , Stallcup W.B.
J. Neurochem.56:797-804(1991) [PubMed] [Europe PMC] [Abstract]

"Casein kinase II phosphorylates the neural cell adhesion molecule L1."
Wong E.V. , Schaefer A.W. , Landreth G. , Lemmon V.
J. Neurochem.66:779-786(1996) [PubMed] [Europe PMC] [Abstract]

"Human plasma N-glycoproteome analysis by immunoaffinity subtraction, hydrazide chemistry, and mass spectrometry."
Liu T. , Qian W.-J. , Gritsenko M.A. , Camp D.G. II , Monroe M.E. , Moore R.J. , Smith R.D.
J. Proteome Res.4:2070-2080(2005) [PubMed] [Europe PMC] [Abstract]

"Global, in vivo, and site-specific phosphorylation dynamics in signaling networks."
Olsen J.V. , Blagoev B. , Gnad F. , Macek B. , Kumar C. , Mortensen P. , Mann M.
Cell127:635-648(2006) [PubMed] [Europe PMC] [Abstract]

"A quantitative atlas of mitotic phosphorylation."
Dephoure N. , Zhou C. , Villen J. , Beausoleil S.A. , Bakalarski C.E. , Elledge S.J. , Gygi S.P.
Proc. Natl. Acad. Sci. U.S.A.105:10762-10767(2008) [PubMed] [Europe PMC] [Abstract]

"Glycoproteomics analysis of human liver tissue by combination of multiple enzyme digestion and hydrazide chemistry."
Chen R. , Jiang X. , Sun D. , Han G. , Wang F. , Ye M. , Wang L. , Zou H.
J. Proteome Res.8:651-661(2009) [PubMed] [Europe PMC] [Abstract]

"Quantitative phosphoproteomics reveals widespread full phosphorylation site occupancy during mitosis."
Olsen J.V. , Vermeulen M. , Santamaria A. , Kumar C. , Miller M.L. , Jensen L.J. , Gnad F. , Cox J. , Jensen T.S. , Nigg E.A. , Brunak S. , Mann M.
Sci. Signal.3:RA3-RA3(2010) [PubMed] [Europe PMC] [Abstract]

"Initial characterization of the human central proteome."
Burkard T.R. , Planyavsky M. , Kaupe I. , Breitwieser F.P. , Buerckstuemmer T. , Bennett K.L. , Superti-Furga G. , Colinge J.
BMC Syst. Biol.5:17-17(2011) [PubMed] [Europe PMC] [Abstract]

"System-wide temporal characterization of the proteome and phosphoproteome of human embryonic stem cell differentiation."
Rigbolt K.T. , Prokhorova T.A. , Akimov V. , Henningsen J. , Johansen P.T. , Kratchmarova I. , Kassem M. , Mann M. , Olsen J.V. , Blagoev B.
Sci. Signal.4:RS3-RS3(2011) [PubMed] [Europe PMC] [Abstract]

"A missense mutation confirms the L1 defect in X-linked hydrocephalus (HSAS)."
Jouet M. , Rosenthal A. , Macfarlane J. , Kenwrick S. , Donnai D.
Nat. Genet.4:331-331(1993) [PubMed] [Europe PMC] [Abstract]

"X-linked hydrocephalus and MASA syndrome present in one family are due to a single missense mutation in exon 28 of the L1CAM gene."
Fransen E. , Schrander-Stumpel C. , Vits L. , Coucke P. , van Camp G. , Willems P.J.
Hum. Mol. Genet.3:2255-2256(1994) [PubMed] [Europe PMC] [Abstract]

"X-linked spastic paraplegia (SPG1), MASA syndrome and X-linked hydrocephalus result from mutations in the L1 gene."
Jouet M. , Rosenthal A. , Armstrong G. , Macfarlane J. , Stevenson R. , Paterson J. , Metzenberg A. , Ionasescu V. , Temple K. , Kenwrick S.
Nat. Genet.7:402-407(1994) [PubMed] [Europe PMC] [Abstract]

"MASA syndrome is due to mutations in the neural cell adhesion gene L1CAM."
Vits L. , van Camp G. , Coucke P. , Fransen E. , de Boulle K. , Reyniers E. , Korn B. , Poustka A. , Wilson G. , Schrander-Stumpel C. , Winter R.M. , Schwartz C. , Willems P.J.
Nat. Genet.7:408-413(1994) [PubMed] [Europe PMC] [Abstract]

"New domains of neural cell-adhesion molecule L1 implicated in X-linked hydrocephalus and MASA syndrome."
Jouet M. , Moncla A. , Paterson J. , McKeown C. , Fryer A. , Carpenter N. , Holmberg E. , Wadelius C. , Kenwrick S.
Am. J. Hum. Genet.56:1304-1314(1995) [PubMed] [Europe PMC] [Abstract]

"CRASH syndrome: clinical spectrum of corpus callosum hypoplasia, retardation, adducted thumbs, spastic paraparesis and hydrocephalus due to mutations in one single gene, L1."
Fransen E. , Lemmon V. , van Camp G. , Vits L. , Coucke P. , Willems P.J.
Eur. J. Hum. Genet.3:273-284(1995) [PubMed] [Europe PMC] [Abstract]

Fransen E. , Lemmon V. , van Camp G. , Vits L. , Coucke P. , Willems P.J.
Eur. J. Hum. Genet.4:126-126(1996)

"Mutations in L1-CAM in two families with X linked complicated spastic paraplegia, MASA syndrome, and HSAS."
Ruiz J.C. , Cuppens H. , Legius E. , Fryns J.-P. , Glover T. , Marynen P. , Cassiman J.-J.
J. Med. Genet.32:549-552(1995) [PubMed] [Europe PMC] [Abstract]

"A new mutation of the L1CAM gene in an X-linked hydrocephalus family."
Izumoto S. , Yamasaki M. , Arita N. , Hiraga S. , Ohnishi T. , Fujitani K. , Sakoda S. , Hayakawa T.
Childs Nerv. Syst.12:742-747(1996) [PubMed] [Europe PMC] [Abstract]

"Five novel mutations in the L1CAM gene in families with X linked hydrocephalus."
Gu S.-M. , Orth U. , Veske A. , Enders H. , Kluender K. , Schloesser M. , Engel W. , Schwinger E. , Gal A.
J. Med. Genet.33:103-106(1996) [PubMed] [Europe PMC] [Abstract]

"Molecular analysis of the L1CAM gene in patients with X-linked hydrocephalus demonstrates eight novel mutations and suggests non-allelic heterogeneity of the trait."
Gu S.-M. , Orth U. , Zankl M. , Schroeder J. , Gal A.
Am. J. Med. Genet.71:336-340(1997) [PubMed] [Europe PMC] [Abstract]

"L1-associated diseases: clinical geneticists divide, molecular geneticists unite."
Fransen E. , Van Camp G. , Vits L. , Willems P.J.
Hum. Mol. Genet.6:1625-1632(1997) [PubMed] [Europe PMC] [Abstract]

"Nine novel L1 CAM mutations in families with X-linked hydrocephalus."
Macfarlane J.R. , Du J.-S. , Pepys M.E. , Ramsden S. , Donnai D. , Charlton R. , Garrett C. , Tolmie J. , Yates J.R.W. , Berry C. , Goudie D. , Moncla A. , Lunt P. , Hodgson S. , Jouet M. , Kenwrick S.
Hum. Mutat.9:512-518(1997) [PubMed] [Europe PMC] [Abstract]

"Multiple exon screening using restriction endonuclease fingerprinting (REF): detection of six novel mutations in the L1 cell adhesion molecule (L1CAM) gene."
Du Y.-Z. , Srivastava A.K. , Schwartz C.E.
Hum. Mutat.11:222-230(1998) [PubMed] [Europe PMC] [Abstract]

"Evidence for somatic and germline mosaicism in CRASH syndrome."
Vits L. , Chitayat D. , van Camp G. , Holden J.J.A. , Fransen E. , Willems P.J.
Hum. Mutat. Suppl.1:S284-S287(1998) [PubMed] [Europe PMC] [Abstract]

"Identification of novel L1CAM mutations using fluorescence-assisted mismatch analysis."
Saugier-Veber P. , Martin C. , le Meur N. , Lyonnet S. , Munnich A. , David A. , Henocq A. , Heron D. , Jonveaux P. , Odent S. , Manouvrier S. , Moncla A. , Morichon N. , Philip N. , Satge D. , Tosi M. , Frebourg T.
Hum. Mutat.12:259-266(1998) [PubMed] [Europe PMC] [Abstract]

"The site of a missense mutation in the extracellular Ig or FN domains of L1CAM influences infant mortality and the severity of X linked hydrocephalus."
Michaelis R.C. , Du Y.-Z. , Schwartz C.E.
J. Med. Genet.35:901-904(1998) [PubMed] [Europe PMC] [Abstract]

"Spectrum and detection rate of L1CAM mutations in isolated and familial cases with clinically suspected L1-disease."
Finckh U. , Schroeder J. , Ressler B. , Veske A. , Gal A.
Am. J. Med. Genet.92:40-46(2000) [PubMed] [Europe PMC] [Abstract]

"Novel missense mutation in the L1 gene in a child with corpus callosum agenesis, retardation, adducted thumbs, spastic paraparesis, and hydrocephalus."
Sztriha L. , Frossard P. , Hofstra R.M. , Verlind E. , Nork M.
J. Child Neurol.15:239-243(2000) [PubMed] [Europe PMC] [Abstract]

"Hydrocephalus and intestinal aganglionosis: is L1CAM a modifier gene in Hirschsprung disease?"
Parisi M.A. , Kapur R.P. , Neilson I. , Hofstra R.M.W. , Holloway L.W. , Michaelis R.C. , Leppig K.A.
Am. J. Med. Genet.108:51-56(2002) [PubMed] [Europe PMC] [Abstract]

"X-linked hydrocephalus: a novel missense mutation in the L1CAM gene."
Sztriha L. , Vos Y.J. , Verlind E. , Johansen J. , Berg B.
Pediatr. Neurol.27:293-296(2002) [PubMed] [Europe PMC] [Abstract]

"Expanding the phenotypic spectrum of L1CAM-associated disease."
Basel-Vanagaite L. , Straussberg R. , Friez M.J. , Inbar D. , Korenreich L. , Shohat M. , Schwartz C.E.
Clin. Genet.69:414-419(2006) [PubMed] [Europe PMC] [Abstract]

"A novel missense mutation in the L1CAM gene in a boy with L1 disease."
Simonati A. , Boaretto F. , Vettori A. , Dabrilli P. , Criscuolo L. , Rizzuto N. , Mostacciuolo M.L.
Neurol. Sci.27:114-117(2006) [PubMed] [Europe PMC] [Abstract]

"Association of X-linked hydrocephalus and Hirschsprung disease: Report of a new patient with a mutation in the L1CAM gene."
Fernandez R.M. , Nunez-Torres R. , Garcia-Diaz L. , de Agustin J.C. , Antinolo G. , Borrego S.
Am. J. Med. Genet. A158:816-820(2012) [PubMed] [Europe PMC] [Abstract]