Author | Year | Journal | Pages | Volume | Title | # Mutation links | # Families | Weblink | Details |
Basel-Vanagaite et al. | 2006 | Clin Genet | 414-419 | 69 | Expanding the phenotypic spectrum of L1CAM-associated disease | 1 | 1 |
16650080
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Bateman et al. | 1996 | EMBO J. | 6050-6059 | 15 No. 22 | Outline structure of the human L1 cell adhesion molecule and the sites where mutations cause neurological disorders.
| 1 | 0 |
8947027
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Bertolin et al | 2010 | J. Neurol Sc | 124-126 | 294 | Novel mutations in the L1CAM gene support the complexity of L1 syndrome | 7 | 7 |
20447653
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Bott et al. | 2004 | Am J med Genet A | 84-87 | 130 | Congenital idiopathic intestinal pseudo-obstruction and hydrocephalus with stenosis of the aqueduct of sylvius | 1 | 1 |
15368500
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Brewer et al. | 1996 | Dev Med Child Neurol | 359-363 | 38 | X-linked hydrocephalus masquerading as spina bifida and destructive porencephaly in successive generations in one family | 0 | 1 |
8641541
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Cheng and Lemmon | 2004 | Mol. Cell. Neurosci. | 522-530 | 27 | Pathological missense mutations of neural cell adhesion molecule L1 affect neurite outgrowth and branching on an L1 substrate | 5 | 0 |
15555929
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Claes et al. | 1998 | Hum. Mutat. | S240-S241 | Suppl 1 | Hydrocephalus and spastic paraplegia result from a donor splice site mutation (287+1GtoA) in the L1CAM gene in a Venezuelan pedigree | 1 | 1 |
9452098
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Coucke et al. | 1994 | Hum. Mol. Genet. | 671-673 | 3 | Identification of a 5' splice site mutation in intron 4 of the L1CAM gene in an X-linked hydrocephalus family | 1 | 1 |
8069317
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De Angelis et al. | 1999 | EMBO J. | 4744-4453 | 18 No. 17 | Pathological missense mutations of neural cell adhesion molecule L1 affect homophilic and heterophilic binding activities.
| 13 | 3 |
10469653
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De Angelis et al. | 2002 | Hum. Mol. Genet. | 1-12 | 11 | Disease-associated mutations in L1 CAM interfere with ligand interactions and cell-surface expression | 25 | 1 |
11772994
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Du et al. | 1998a | J. Med. Genet. | 456-462 | 35 | A silent mutation, C924T (G308G), in the L1CAM gene results in X-linked hydrocephalus (HSAS) | 1 | 1 |
9643285
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Du et al. | 1998b | Hum. Mutat. | 222-230 | 11 | Multiple exon screening using restriction endonucleases fingerprinting (REF): Detection of six novel mutations in the L1 cell adhesion molecule (L1CAM) gene | 6 | 7 |
9521424
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Du et al. | 1998c | Am. J. Med. Genet. | 200-202 | 75 | Somatic and germ line mosaicism and mutation origin for a mutation in the L1 gene in a family with X-linked hydrocephalus | 1 | 1 |
9450886
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Fernandez et al. | 2012 | Am J Med Genet A | 816-820 | 158A | Association of X-linked Hydrocephalus and Hirschsprung disease: Report af a new patient with a mutation in the L1CAM gene | 1 | 1 |
22344793
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Finckh et al. | 2000 | Am. J. Med. Genet. | 40-46 | 92 | Spectrum and detection rate of L1CAM mutations in isolated and familial cases with clinically suspected L1-disease | 43 | 44 |
10797421
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Forrest et al. | 1994 | Am. J. Hum. Genet. | A219 | 55 | Mutation detection in X-linked hydrocephalus | 2 | 1 |
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Fransen et al. | 1994 | Hum. Mol. Genet. | 2255-2256 | 3 | X-linked hydrocephalus and MASA syndrome present in one family are due to a single missense mutation in exon 28 of the L1CAM gene | 1 | 1 |
7881431
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Fransen et al. | 1996 | Am. J. Med. Genet. | 73-77 | 64 | The clinical spectrum of mutations in L1, a neuronal cell adhesion molecule | 8 | 8 |
8826452
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Fransen et al. | 1997 | Hum. Mol. Genet. | 1625-1632 | 6 | L1-associated diseases: clinical geneticists divide, molecular geneticists unite | 16 | 14 |
9300653
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Fryns et al. | 1991 | J. Med. Genet. | 429-431 | 28 | X-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 Xq28 | 1 | 1 |
1870106
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Gal J. | | Personal communication | | | | 6 | 5 |
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Graf et al. | 2000 | Ann. Neurol. | 113-117 | 47 | Diffusion-weighted magnetic resonance imaging in boys with neural cell adhesion molecule L1 mutations and congenital hydrocephalus | 4 | 4 |
10632110
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Griseri et al | 2009 | Eur J Hum Genet | 483-490 | 17(4) | Complex pathogenesis of Hirschsprung's disease in a patient with hydrocephalus, vesico-ureteral reflux and a balanced translocation t(3;17)(p12;q11) | 1 | 1 |
19300444
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Gu et al. | 1996 | J. Med. Genet. | 103-106 | 33 | Five novel mutations in the L1CAM gene in families with X linked hydrocephalus | 5 | 5 |
8929944
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Gu et al. | 1997 | Am. J. Med. Genet. | 336-340 | 71 | Molecular analysis of the L1CAM gene in patients with X-linked hydrocephalus reveals eight novel mutations and suggests non-allelic genetic heterogeneity of the trait | 9 | 8 |
9268105
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Hiraki et al. | 2008 | Am J med Genet A | 1241-1247 | 146A | Two new cases of pure 1q terminal deletion presenting with brain malformations | 1 | 1 |
18384145
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Hlavin and Lemmon | 1991 | Genomics | 416-423 | 11 | Molecular structure and functional testing of human L1CAM | 0 | 0 |
1769655
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Hofstra et al. | 2002 | J. Med. Genet | el 1 | 39 | Hirschsprung disease and L1CAM: is the disturbed sex ratio caused by L1CAM mutations? | 1 | 1 |
11897831
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Hubner et al | 2004 | Hum Mutat | 526 | 23(5) | Intronic mutations in the L1CAM gene may cause X-linked hydrocephalus by aberrant splicing | 7 | 7 |
15108295
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Izumoto et al. | 1996 | Child's Nerv Syst | 742-747 | 12 | A new mutation of the L1CAM gene in an X-linked hydrocephalus family | 1 | 1 |
9118141
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Jackson et al. | 2009 | Pediatr Surg Int | 823-825 | 25(9) | L1CAM mutation in association with X-linked hydrocephalus and Hirschsprung's disease | 1 | 1 |
19641926
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Jouet et al. | 1993a | J. Med. Genet. | 214-217 | 30 | Refining the genetic localisation of the gene for X-linked hydrocephalus within Xq28 | 3 | 3 |
8474107
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Jouet et al. | 1993b | Nat. Genet. | 331 | 4 | A missense mutation confirms the L1 defect in X-linked hydrocephalus (HSAS) | 1 | 0 |
8401576
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Jouet et al. | 1994 | Nat. Genet. | 402-407 | 7 | X-linked spastic paraplegia (SPG1), MASA syndrome and X-linked hydrocephalus result from mutations in the L1 gene | 7 | 7 |
7920659
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Jouet et al. | 1995a | Am. J. Hum. Genet. | 1304-1314 | 56 | New domains of neural cell-adhesion molecule L1 implicated in X-linked hydrocephalus and MASA syndrome | 9 | 9 |
7762552
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Jouet and Kenwrick | 1995c | Lancet | 161-162 | 345 | Gene analysis of L1 neural cell adhesion molecule in prenatal diagnosis of hydrocephalus | 1 | 1 |
7823673
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Jouet et al. | 1996 | J. Med. Genet. | 218-250 | 33 | Discordant segregation of Xq28 markers and a mutation in the L1 gene in a family with X linked hydrocephalus | 1 | 1 |
8728703
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Kaepernick et al. | 1994 | Clin. Genet. | 181-185 | 45 | Clinical aspects of MASA syndrome in a large family, including expressing females | 1 | 1 |
8062435
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Kanemura et al | 2005 | Congenital Anomalies | 67-69 | 45 | First case of L1CAM gene mutation identified in MASA syndrome in Asia | 1 | 1 |
15904436
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Kanemura et al | 2006 | J Neurosurg: Pediatrics | 403-412 | 105 | Molecular mechanisms and neuroimaging criteria for severe L1 syndrome with X-linked hydrocephalus | 24 | 25 |
17328266
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Kaplan | 1983 | J. Med. Genet. | 122-124 | 20 | X-linked recessive inheritance of agenesis of the corpus callosum | 0 | 1 |
6682447
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Kenwrick | | ? | | | | 1 | 1 |
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Kenwrick et al. | 2000 | Hum. Mol. Genet. | 879-886 | 9 | Neural cell recognition molecule L1: relating biological complexity to human disease mutations | 37 | 0 |
10767310
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Knops et al. | 2008 | Am J med Genet A | 1853-1858 | 146A | Nephrogenic diabetes insipidus in a patient with L1 syndrome: a new report of a contiguous gene deletion syndrome including L1CAM and AVPR2 | 1 | 1 |
18553546
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Liebau et al. | 2007 | Pediatr Nephrol | 1058-1061 | 22 | L1CAM mutation in a boy with hydrocephalus and duplex kidneys | 1 | 1 |
17294222
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MacFarlane et al. | 1997 | Hum. Mutat. | 512-518 | 9 | Nine novel L1CAM mutations in families with X-linked Hydrocephalus | 10 | 10 |
9195224
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Macias et al. | 1992 | Genet. | 408-414 | 43 | Clasped-thumb mental retardation (MASA) syndrome: confirmation of linkage to Xq28 | 0 | 1 |
1605219
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Marx et al | 2012 | Neurogenetics | 49-59 | 13 | Pathomechanistic characterization of two exonic L1CAM variants located in trans in an obligate carrier of X-linked hydrocephalus | 1 | 1 |
22222883
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Michelson et al. | 2002 | Hum. Mutat. | 481-482 | 20 | Missense mutations in the extracellular domain of the human neural cell adhesion molecule L1 reduce neurite outgrowth of murine cerebellar neurons | 4 | 0 |
12442287
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Moya et al. | 2002 | Fetal Diagn. Ther. | 115-119 | 17 | Prenatal diagnosis of L1 cell adhesion molecule mutations | 1 | 1 |
11844917
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Nagaraj et al. | 2009 | Hum. Mol. Genet. | 3822-3831 | 18 (20) | Pathogenic human L1-CAM mutations reduce the adhesion-dependent activation of EGFR | 2 | 0 |
19617634
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Nakakimura et al. | 2008 | J Pediatr Surg | E13-E17 | 43(5) | Hirschsprung's disease, acrocallosal syndrome, and congenital hydrocephalus: report of 2 patients and literature review | 1 | 1 |
18485929
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Nunes et al | 2009 | Eur Radiol | 1-4 | Epub ahead of print | Congenital hydrocephalus and L1 disease: a case report (2009: 7b) | 1 | 1 |
19714335
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Okamoto et al. | 1996 | Jpn J Hum Genet | 431-437 | 41 | A novel mutation in L1CAM gene in a Japanese patient with X-linked hydrocephalus | 1 | 1 |
9088116
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Okamoto et al. | 1997a | J. Med. Genet. | 670-671 | 34 | Hydrocephalus and Hirschprung's disease in a patient with a mutation of L1CAM | 1 | 1 |
15148591
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Okamoto et al. | 2004 | J Hum Genet | 334-337 | 49 | Hydrocephalus and Hirschsprung's disease with a mutation of L1CAM | 3 | 2 |
15148591
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Panayi et al | 2005 | Prenat Diagn | 930-933 | 25(10) | Prenatal diagnosis in a family with X-linked hydrocephalus | 1 | 1 |
16088863
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Parisi et al | 2002 | Am J med Genet A | 51-56 | 108 | Hydrocephalus and intestinal aganglionosis: is L1CAM a modifier gene in Hirschsprung disease? | 1 | 1 |
11857550
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Piccione et al. | 2009 | Eur J Pediatr | 1-5 | Epub ahead of print | A novel L1CAM mutation in a fetus detected by prenatal diagnosis | 1 | 1 |
19685344
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Pomili et al. | 2000 | Prenat Diagn | 1012-1014 | 20 | MASA syndrome: ultrasonographic evidence in a male fetus | 1 | 1 |
11113917
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Rehnberg et al. | 2010 | Am J med Genet A | 439-441 | 155 | Novel L1CAM Splice Site Mutation in a young Male with L1 syndrome | 1 | 1 |
21182018
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Reid and Hemperly. | 1992 | J. Mol. Neurosci. | 127-135 | 3 | Variants of human L1-cell adhesion molecule arise through alternate splicing of RNA | 0 | 0 |
9088116
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Rodriguez et al. | 2003 | Genet Couns | 57-65 | 14 | X-linked hydrocephalus: another two families with an L1 mutation | 1 | 1 |
12725590
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Rosenthal et al. | 1992 | Nat. Genet. | 107-112 | 2 | Aberrant splicing of neural cell adhesion molecule L1 messenger RNA in a family with X-linked hydrocephalus | 1 | 1 |
1303258
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Ruiz et al. | 1995 | J. Med. Genet. | 549-552 | 32 | Mutations in L1-CAM in two families with X linked complicated spastic paraplegia, MASA syndrome, and HSAS | 2 | 2 |
7562969
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Rünker et al. | 2003 | J. Neurosc | 277-286 | 23(1) | The C264Y missense mutation in the extracellular domain of L1 impairs protein trafficking in vitro and in vivo | 1 | 0 |
12514225
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Saugier-Veber et al. | 1998 | Hum. Mutat. | 259-266 | 12 | Identification of novel L1CAM mutations using fluorescence-assisted mismatch analysis | 10 | 10 |
9744477
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Schrander-Stumpel et al. | 1990 | J. Med. Genet. | 688-692 | 27 | MASA syndrome: new clinical features and linkage analysis using DNA probes | 0 | 1 |
2277384
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Senat et al. | 2001 | Prenat Diagn | 1129-1132 | 21(13) | Prenatal diagnosis of hydrocephalus-stenosis of the aqueduct of Sylvius by ultrasound in the first trimester of pregnancy. Report of two cases | 1 | 1 |
11787037
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Serville et al. | 1992 | Eur. J. Pediatr. | 515-518 | 151 | X-linked hydrocephalus: clinical heterogeneity at a single gene locus | 1 | 1 |
1396913
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Silan et al | 2005 | Prenat Diagn | 57-59 | 25(1) | A novel L1CAM mutation with L1 spectrum disorders | 1 | 1 |
15662685
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Simonati et al. | 2006 | Neurol Sci | 114-117 | 27 | A novel missense mutation in the L1CAM gene in a boy with L1 disease | 1 | 1 |
16816908
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Strain et al | 1994 | Am J med Genet A | 236-243 | 54(2) | Genetic heterogeneity in X-linked hydrocephalus: linkage to markers within Xq27.3 | 0 | 1 |
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Straussberg et al. | 1991 | Clin. Genet. | 337-341 | 40 | X-linked mental retardation with bilateral clasped thumbs: report of another affected family | 1 | 1 |
1756607
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Sztriha et al. | 2000 | J. Child Neurol. | 239-243 | 15(4) | Novel missense mutation in the L1 gene in a child with corpus callosum agenesis, retardation, adducted thumbs, spastic paraparesis, and hydrocephalus | 1 | 1 |
10805190
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Sztriha et al. | 2002 | Pediatr. Neurol. | 293-296 | 27 | X-linked hydrocephalus: a novel missense mutation in the L1CAM gene | 1 | 1 |
12435569
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Takahashi et al. | 1997 | Brain & Development | 559-562 | 19 | L1CAM mutation in a Japanese family with X-linked hydrocephalus: a study for genetic counseling | 1 | 1 |
9440802
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Takechi et al. | 1996 | Hum. Genet. | 353-356 | 97 | A deletion of five nucleotides in the L1CAM gene in a Japanese family with X-linked hydrocephalus | 1 | 1 |
8786080
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Tegay et al. | 2007 | Am J med Genet A | 594-598 | 143(6) | Contiguous gene deletion involving L1CAM and AVPR2 causes X-linked hydrocephalus with nephrogenic diabetes insipidus | 1 | 1 |
17318848
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Van Camp et al. | 1993 | Nat. Genet. | 421-425 | 4 | A duplication in the L1CAM gene associated with X-linked hydrocephalus | 1 | 1 |
8401593
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Vits et al. | 1994 | Nat. Genet. | 408-413 | 7 | MASA syndrome is due to mutations in the neural cell adhesion gene L1CAM | 3 | 3 |
7920660
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Vits et al. | 1998 | Hum. Mutation Suppl. | 284-287 | 1 | Evidence for somatic and germline mosaicism in CRASH syndrome | 1 | 1 |
9452110
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Vos et al. | 2010 | J.Med.Genet | 169-175 | 47(3) | Genotype-phenotype correlations in L1 syndrome: a guide for genetic counselling and mutation analysis | 66 | 70 |
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Vos et al. | 2010 | To be published | | | | 3 | 1 |
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Willems et al. | 1987 | Am. J. Med. Genet. | 921-928 | 27 | X-linked hydrocephalus | 0 | 1 |
3425602
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Wilson et al. | 2009 | Genet Test Mol Biomarkers | 515-519 | 13(4) | Prenatal identification of a novel R937P L1CAM missense mutation | 1 | 1 |
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Winter et al. | 1989 | Hum. Genet. | 367-370 | 83 | MASA syndrome: further clinical delineation and chromosomal localisation | 0 | 1 |
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Y.Zarate | | Personal communication | | | | 1 | 1 |
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Yeatman | 1984 | Am. J. Med. Genet. | 339-344 | 17 | Mental retardation-clasped thumb syndrome | 0 | 1 |
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Zhao and Siu | 1996 | J. Biol. Chem. | 6563-6566 | 271 | Differential effects of two hydrocephalus/MASA syndrome-related mutations on the homophilic binding and neuritogenic activities of the cell adhesion molecule L1 | 2 | 0 |
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