135 related articles for article (PubMed ID: 9452098)
1. Hydrocephalus and spastic paraplegia result from a donor splice site mutation (2872 + 1G to A) in the L1CAM gene in a Venezuelan pedigree.
Claes S; Aguirre T; Simosa V; Bustos T; Lander R; Piras M; Legius E; Cassiman JJ; Raeymaekers P
Hum Mutat; 1998; Suppl 1():S240-1. PubMed ID: 9452098
[No Abstract] [Full Text] [Related]
2. Spectrum and detection rate of L1CAM mutations in isolated and familial cases with clinically suspected L1-disease.
Finckh U; Schröder J; Ressler B; Veske A; Gal A
Am J Med Genet; 2000 May; 92(1):40-6. PubMed ID: 10797421
[TBL] [Abstract][Full Text] [Related]
3. 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]
4. 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]
5. Mutations in L1-CAM in two families with X linked complicated spastic paraplegia, MASA syndrome, and HSAS.
Ruiz JC; Cuppens H; Legius E; Fryns JP; Glover T; Marynen P; Cassiman JJ
J Med Genet; 1995 Jul; 32(7):549-52. PubMed ID: 7562969
[TBL] [Abstract][Full Text] [Related]
6. Evidence for somatic and germline mosaicism in CRASH syndrome.
Vits L; Chitayat D; Van Camp G; Holden JJ; Fransen E; Willems PJ
Hum Mutat; 1998; Suppl 1():S284-7. PubMed ID: 9452110
[No Abstract] [Full Text] [Related]
7. 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]
8. 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]
9. [X-linked hydrocephalus (Brickers-Adams syndrome). A case report confirmed by molecular genetic studies].
Santos F; Temudo T
Rev Neurol; 2000 Dec 1-15; 31(11):1039-42. PubMed ID: 11190871
[TBL] [Abstract][Full Text] [Related]
10. Genotype-phenotype correlation in L1 associated diseases.
Fransen E; Van Camp G; D'Hooge R; Vits L; Willems PJ
J Med Genet; 1998 May; 35(5):399-404. PubMed ID: 9610803
[TBL] [Abstract][Full Text] [Related]
11. Discordant segregation of Xq28 markers and a mutation in the L1 gene in a family with X linked hydrocephalus.
Jouet M; Strain L; Bonthron D; Kenwrick S
J Med Genet; 1996 Mar; 33(3):248-50. PubMed ID: 8728703
[TBL] [Abstract][Full Text] [Related]
12. 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]
13. 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]
14. 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]
15. Hydrocephalus and intestinal aganglionosis: is L1CAM a modifier gene in Hirschsprung disease?
Parisi MA; Kapur RP; Neilson I; Hofstra RM; Holloway LW; Michaelis RC; Leppig KA
Am J Med Genet; 2002 Feb; 108(1):51-6. PubMed ID: 11857550
[TBL] [Abstract][Full Text] [Related]
16. Prenatal molecular diagnosis of L1-spectrum disorders.
Finckh U; Gal A
Prenat Diagn; 2000 Sep; 20(9):744-5. PubMed ID: 11015704
[No Abstract] [Full Text] [Related]
17. 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 RC; Du YZ; Schwartz CE
J Med Genet; 1998 Nov; 35(11):901-4. PubMed ID: 9832035
[TBL] [Abstract][Full Text] [Related]
18. Diffusion-weighted magnetic resonance imaging in boys with neural cell adhesion molecule L1 mutations and congenital hydrocephalus.
Graf WD; Born DE; Shaw DW; Thomas JR; Holloway LW; Michaelis RC
Ann Neurol; 2000 Jan; 47(1):113-7. PubMed ID: 10632110
[TBL] [Abstract][Full Text] [Related]
19. 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; 1996 Dec; 12(12):742-7. PubMed ID: 9118141
[TBL] [Abstract][Full Text] [Related]
20. Brainstem diffusion-weighted MRI in boys with L1CAM mutations.
Graf WD; Born DE; Shaw DW; Thomas JR; Holloway LW; Michaelis RC
Eur J Pediatr Surg; 1999 Dec; 9 Suppl 1():41-2. PubMed ID: 10661793
[No Abstract] [Full Text] [Related]
[Next] [New Search]