Literature DB >> 8401576

A missense mutation confirms the L1 defect in X-linked hydrocephalus (HSAS)

M Jouet, A Rosenthal, J MacFarlane, S Kenwrick, D Donnai.   

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Year:  1993        PMID： 8401576     DOI： 10.1038/ng0893-331

Source DB:  PubMed          Journal:  Nat Genet        ISSN： 1061-4036            Impact factor:   38.330


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  20 in total

1.  A modifier locus on chromosome 5 contributes to L1 cell adhesion molecule X-linked hydrocephalus in mice.

Authors:  Alexis Tapanes-Castillo; Eli J Weaver; Robin P Smith; Yoshimasa Kamei; Tamara Caspary; Kara L Hamilton-Nelson; Susan H Slifer; Eden R Martin; John L Bixby; Vance P Lemmon
Journal:  Neurogenetics       Date:  2009-06-30       Impact factor: 2.660

Review 2.  X linked hydrocephalus and MASA syndrome.

Authors:  S Kenwrick; M Jouet; D Donnai
Journal:  J Med Genet       Date:  1996-01       Impact factor: 6.318

3.  Five novel mutations in the L1CAM gene in families with X linked hydrocephalus.

Authors:  S M Gu; U Orth; A Veske; H Enders; K Klunder; M Schlosser; W Engel; E Schwinger; A Gal
Journal:  J Med Genet       Date:  1996-02       Impact factor: 6.318

4.  Outline structure of the human L1 cell adhesion molecule and the sites where mutations cause neurological disorders.

Authors:  A Bateman; M Jouet; J MacFarlane; J S Du; S Kenwrick; C Chothia
Journal:  EMBO J       Date:  1996-11-15       Impact factor: 11.598

5.  A new mutation of the L1CAM gene in an X-linked hydrocephalus family.

Authors:  S Izumoto; M Yamasaki; N Arita; S Hiraga; T Ohnishi; K Fujitani; S Sakoda; T Hayakawa
Journal:  Childs Nerv Syst       Date:  1996-12       Impact factor: 1.475

6.  Discordant segregation of Xq28 markers and a mutation in the L1 gene in a family with X linked hydrocephalus.

Authors:  M Jouet; L Strain; D Bonthron; S Kenwrick
Journal:  J Med Genet       Date:  1996-03       Impact factor: 6.318

7.  A deletion of five nucleotides in the L1CAM gene in a Japanese family with X-linked hydrocephalus.

Authors:  T Takechi; J Tohyama; T Kurashige; K Maruta; K Uyemura; T Ohi; S Matsukura; N Sakuragawa
Journal:  Hum Genet       Date:  1996-03       Impact factor: 4.132

Review 8.  Using C. elegans to decipher the cellular and molecular mechanisms underlying neurodevelopmental disorders.

Authors:  Carlos Bessa; Patrícia Maciel; Ana João Rodrigues
Journal:  Mol Neurobiol       Date:  2013-03-14       Impact factor: 5.590

9.  Genotype-phenotype correlation in L1 associated diseases.

Authors:  E Fransen; G Van Camp; R D'Hooge; L Vits; P J Willems
Journal:  J Med Genet       Date:  1998-05       Impact factor: 6.318

10.  New domains of neural cell-adhesion molecule L1 implicated in X-linked hydrocephalus and MASA syndrome.

Authors:  M Jouet; A Moncla; J Paterson; C McKeown; A Fryer; N Carpenter; E Holmberg; C Wadelius; S Kenwrick
Journal:  Am J Hum Genet       Date:  1995-06       Impact factor: 11.025
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