142 related articles for article (PubMed ID: 9521424)
1. 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]
2. 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]
3. 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]
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. 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]
6. 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]
7. 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]
8. First case of L1CAM gene mutation identified in MASA syndrome in Asia.
Kanemura Y; Takuma Y; Kamiguchi H; Yamasaki M
Congenit Anom (Kyoto); 2005 Jun; 45(2):67-9. PubMed ID: 15904436
[TBL] [Abstract][Full Text] [Related]
9. 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]
10. Restriction endonuclease fingerprinting enhanced conformation sensitive gel electrophoresis (REF-CSGE) in the analysis of BRCA1 exon 11 mutations in a high-risk breast cancer cohort.
Herzog JS; Jancis EM; Liao S; Somlo G; Weitzel JN
Hum Mutat; 2002 Jun; 19(6):656-63. PubMed ID: 12007222
[TBL] [Abstract][Full Text] [Related]
11. 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]
12. 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]
13. 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]
14. Restriction endonuclease fingerprinting (REF): a sensitive method for screening mutations in long, contiguous segments of DNA.
Liu Q; Sommer SS
Biotechniques; 1995 Mar; 18(3):470-7. PubMed ID: 7779398
[TBL] [Abstract][Full Text] [Related]
15. [X-linked hydrocephalus syndrome].
Okamoto N
Ryoikibetsu Shokogun Shirizu; 2000; (30 Pt 5):47-8. PubMed ID: 11057138
[No Abstract] [Full Text] [Related]
16. 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]
17. The clinical spectrum of mutations in L1, a neuronal cell adhesion molecule.
Fransen E; Vits L; Van Camp G; Willems PJ
Am J Med Genet; 1996 Jul; 64(1):73-7. PubMed ID: 8826452
[TBL] [Abstract][Full Text] [Related]
18. Pathological missense mutations of neural cell adhesion molecule L1 affect homophilic and heterophilic binding activities.
De Angelis E; MacFarlane J; Du JS; Yeo G; Hicks R; Rathjen FG; Kenwrick S; Brümmendorf T
EMBO J; 1999 Sep; 18(17):4744-53. PubMed ID: 10469653
[TBL] [Abstract][Full Text] [Related]
19. Alport syndrome. Molecular genetic aspects.
Hertz JM
Dan Med Bull; 2009 Aug; 56(3):105-52. PubMed ID: 19728970
[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]
