178 related articles for article (PubMed ID: 8401593)
1. A duplication in the L1CAM gene associated with X-linked hydrocephalus.
Van Camp G; Vits L; Coucke P; Lyonnet S; Schrander-Stumpel C; Darby J; Holden J; Munnich A; Willems PJ
Nat Genet; 1993 Aug; 4(4):421-5. PubMed ID: 8401593
[TBL] [Abstract][Full Text] [Related]
2. Aberrant splicing of neural cell adhesion molecule L1 mRNA in a family with X-linked hydrocephalus.
Rosenthal A; Jouet M; Kenwrick S
Nat Genet; 1992 Oct; 2(2):107-12. PubMed ID: 1303258
[TBL] [Abstract][Full Text] [Related]
3. A novel mutation in L1CAM gene in a Japanese patient with X-linked hydrocephalus.
Okamoto N; Wada Y; Kawabata H; Ishikiriyama S; Takahashi S
Jpn J Hum Genet; 1996 Dec; 41(4):431-7. PubMed ID: 9088116
[TBL] [Abstract][Full Text] [Related]
4. 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; 1994 Jul; 7(3):402-7. PubMed ID: 7920659
[TBL] [Abstract][Full Text] [Related]
5. 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
Nat Genet; 1994 Jul; 7(3):408-13. PubMed ID: 7920660
[TBL] [Abstract][Full Text] [Related]
6. Identification of novel L1CAM mutations using fluorescence-assisted mismatch analysis.
Saugier-Veber P; Martin C; Le Meur N; Lyonnet S; Munnich A; David A; Hénocq A; Héron D; Jonveaux P; Odent S; Manouvrier S; Moncla A; Morichon N; Philip N; Satge D; Tosi M; Frébourg T
Hum Mutat; 1998; 12(4):259-66. PubMed ID: 9744477
[TBL] [Abstract][Full Text] [Related]
7. Somatic and germ line mosaicism and mutation origin for a mutation in the L1 gene in a family with X-linked hydrocephalus.
Du JS; Bason L; Woffendin H; Zackai E; Kenwrick S
Am J Med Genet; 1998 Jan; 75(2):200-2. PubMed ID: 9450886
[TBL] [Abstract][Full Text] [Related]
8. Prenatal diagnosis in a family with X-linked hydrocephalus.
Panayi M; Gokhale D; Mansour S; Elles R
Prenat Diagn; 2005 Oct; 25(10):930-3. PubMed ID: 16088863
[TBL] [Abstract][Full Text] [Related]
9. Multiple exon screening using restriction endonuclease fingerprinting (REF): detection of six novel mutations in the L1 cell adhesion molecule (L1CAM) gene.
Du YZ; Srivastava AK; Schwartz CE
Hum Mutat; 1998; 11(3):222-30. PubMed ID: 9521424
[TBL] [Abstract][Full Text] [Related]
10. A silent mutation, C924T (G308G), in the L1CAM gene results in X linked hydrocephalus (HSAS).
Du YZ; Dickerson C; Aylsworth AS; Schwartz CE
J Med Genet; 1998 Jun; 35(6):456-62. PubMed ID: 9643285
[TBL] [Abstract][Full Text] [Related]
11. Intronic mutations in the L1CAM gene may cause X-linked hydrocephalus by aberrant splicing.
Hübner CA; Utermann B; Tinschert S; Krüger G; Ressler B; Steglich C; Schinzel A; Gal A
Hum Mutat; 2004 May; 23(5):526. PubMed ID: 15108295
[TBL] [Abstract][Full Text] [Related]
12. A novel L1CAM mutation with L1 spectrum disorders.
Silan F; Ozdemir I; Lissens W
Prenat Diagn; 2005 Jan; 25(1):57-9. PubMed ID: 15662685
[TBL] [Abstract][Full Text] [Related]
13. A deletion of five nucleotides in the L1CAM gene in a Japanese family with X-linked hydrocephalus.
Takechi T; Tohyama J; Kurashige T; Maruta K; Uyemura K; Ohi T; Matsukura S; Sakuragawa N
Hum Genet; 1996 Mar; 97(3):353-6. PubMed ID: 8786080
[TBL] [Abstract][Full Text] [Related]
14. [A family with X-linked hydrocephalus resulting from mutations in the neural cell adhesion molecule L1].
Maruta K; Ohi T; Ohdo S; Takechi T; Sakuragawa N; Matsukura S
Rinsho Shinkeigaku; 1996 Mar; 36(3):462-6. PubMed ID: 8741350
[TBL] [Abstract][Full Text] [Related]
15. Identification of a 5' splice site mutation in intron 4 of the L1CAM gene in an X-linked hydrocephalus family.
Coucke P; Vits L; Van Camp G; Serville F; Lyonnet S; Kenwrick S; Rosenthal A; Wehnert M; Munnich A; Willems PJ
Hum Mol Genet; 1994 Apr; 3(4):671-3. PubMed ID: 8069317
[No Abstract] [Full Text] [Related]
16. A missense mutation confirms the L1 defect in X-linked hydrocephalus (HSAS).
Jouet M; Rosenthal A; MacFarlane J; Kenwrick S; Donnai D
Nat Genet; 1993 Aug; 4(4):331. PubMed ID: 8401576
[No Abstract] [Full Text] [Related]
17. Genetic and clinical aspects of X-linked hydrocephalus (L1 disease): Mutations in the L1CAM gene.
Weller S; Gärtner J
Hum Mutat; 2001; 18(1):1-12. PubMed ID: 11438988
[TBL] [Abstract][Full Text] [Related]
18. Nine novel L1 CAM mutations in families with X-linked hydrocephalus.
MacFarlane JR; Du JS; Pepys ME; Ramsden S; Donnai D; Charlton R; Garrett C; Tolmie J; Yates JR; Berry C; Goudie D; Moncla A; Lunt P; Hodgson S; Jouet M; Kenwrick S
Hum Mutat; 1997; 9(6):512-8. PubMed ID: 9195224
[TBL] [Abstract][Full Text] [Related]
19. Spectrum of X-linked hydrocephalus (HSAS), MASA syndrome, and complicated spastic paraplegia (SPG1): Clinical review with six additional families.
Schrander-Stumpel C; Höweler C; Jones M; Sommer A; Stevens C; Tinschert S; Israel J; Fryns JP
Am J Med Genet; 1995 May; 57(1):107-16. PubMed ID: 7645588
[TBL] [Abstract][Full Text] [Related]
20. L1CAM mutation in a Japanese family with X-linked hydrocephalus: a study for genetic counseling.
Takahashi S; Makita Y; Okamoto N; Miyamoto A; Oki J
Brain Dev; 1997 Dec; 19(8):559-62. PubMed ID: 9440802
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
