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Volumn 25, Issue 1, 2005, Pages 57-59

A novel L1CAM mutation with L1 spectrum disorders

Author keywords

Corpus callosum hypoplasia; L1 spectrum; L1CAM; Prenatal diagnosis; X linked hydrocephalus

Indexed keywords

NERVE CELL ADHESION MOLECULE L1;

EID: 13244268632     PISSN: 01973851     EISSN: None     Source Type: Journal    
DOI: 10.1002/pd.978     Document Type: Article
Times cited : (8)

References (8)
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    • Fransen E, Lemmon V, Van Camp G, Vits L, Coucke P, Willems PJ. 1995. CRASH syndrome: clinical spectrum of corpus callosum hypoplasia, retardation, adducted thumbs, spastic paraparesis and hydrocephalus due to mutations in one single gene, L1. Eur J Hum Genet 3: 273-284.
    • (1995) Eur J Hum Genet , vol.3 , pp. 273-284
    • Fransen, E.1    Lemmon, V.2    Van Camp, G.3    Vits, L.4    Coucke, P.5    Willems, P.J.6
  • 2
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    • The L1CAM extracellular region: A Multidomain protein with modular and cooperative binding modes
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    • Haspel, J.1    Grumet, M.2
  • 3
    • 0028241952 scopus 로고
    • X Linked spastic paraplegia (SPG1), MASA syndrome and X Linked hydrocephalus result from mutations in the L1 gene
    • Jouet M, Rosenthal A, Armstrong G. 1994. X Linked spastic paraplegia (SPG1), MASA syndrome and X Linked hydrocephalus result from mutations in the L1 gene. Nat Genet 7: 402-407.
    • (1994) Nat Genet , vol.7 , pp. 402-407
    • Jouet, M.1    Rosenthal, A.2    Armstrong, G.3
  • 4
    • 0028288982 scopus 로고
    • Clinical aspects of the MASA syndrome in a large family, including expressing females
    • Kaepernick L, Legius E, Higgins J, Kapur S. 1994. Clinical aspects of the MASA syndrome in a large family, including expressing females. Clin Genet 45: 181-185.
    • (1994) Clin Genet , vol.45 , pp. 181-185
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  • 5
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    • X-linked hydrocephalus: A novel missense mutation in the L1CAM gene
    • Sztriha L, Vos YJ, Verlind E, Johansen J, Berg B. 2002. X-linked hydrocephalus: a novel missense mutation in the L1CAM gene. Pediatr Neurol 27: 293-296.
    • (2002) Pediatr Neurol , vol.27 , pp. 293-296
    • Sztriha, L.1    Vos, Y.J.2    Verlind, E.3    Johansen, J.4    Berg, B.5
  • 6
    • 0031470778 scopus 로고    scopus 로고
    • 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. 1997. L1CAM mutation in a Japanese family with X-linked hydrocephalus: a study for genetic counseling. Brain Dev 19: 559-562.
    • (1997) Brain Dev , vol.19 , pp. 559-562
    • Takahashi, S.1    Makita, Y.2    Okamoto, N.3    Miyamoto, A.4    Oki, J.5
  • 7
    • 0002840296 scopus 로고    scopus 로고
    • Polar body-based preimplantation diagnosis for X-linked disorders
    • Verlinsky Y, Rechitsky S, Verlinsky O, et al. 2002. Polar body-based preimplantation diagnosis for X-linked disorders. Reprod Biomed Online 4: 38-42.
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  • 8
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    • Genetic and clinical aspects of X-linked hydrocephalus (L1 disease): Mutations in the L1CAM gene
    • Review
    • Weller S, Gartner J. 2001. Genetic and clinical aspects of X-linked hydrocephalus (L1 disease): Mutations in the L1CAM gene. Hum Mutat 18: 1-12. Review.
    • (2001) Hum Mutat , vol.18 , pp. 1-12
    • Weller, S.1    Gartner, J.2


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.