Kenwrick S - Search Results

1

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. Jouet M, et al. Among authors: kenwrick s. Nat Genet. 1994 Jul;7(3):402-7. doi: 10.1038/ng0794-402. Nat Genet. 1994. PMID: 7920659

2

Aberrant splicing of neural cell adhesion molecule L1 mRNA in a family with X-linked hydrocephalus.

Rosenthal A, Jouet M, Kenwrick S. Rosenthal A, et al. Among authors: kenwrick s. Nat Genet. 1992 Oct;2(2):107-12. doi: 10.1038/ng1092-107. Nat Genet. 1992. PMID: 1303258

3

Exon 2 of the gene for neural cell adhesion molecule L1 is alternatively spliced in B cells.

Jouet M, Rosenthal A, Kenwrick S. Jouet M, et al. Among authors: kenwrick s. Brain Res Mol Brain Res. 1995 Jun;30(2):378-80. doi: 10.1016/0169-328x(95)00027-p. Brain Res Mol Brain Res. 1995. PMID: 7637589

4

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

Jouet M, Moncla A, Paterson J, McKeown C, Fryer A, Carpenter N, Holmberg E, Wadelius C, Kenwrick S. Jouet M, et al. Among authors: kenwrick s. Am J Hum Genet. 1995 Jun;56(6):1304-14. Am J Hum Genet. 1995. PMID: 7762552 Free PMC article.

5

Gene analysis of L1 neural cell adhesion molecule in prenatal diagnosis of hydrocephalus.

Jouet M, Kenwrick S. Jouet M, et al. Among authors: kenwrick s. Lancet. 1995 Jan 21;345(8943):161-2. doi: 10.1016/s0140-6736(95)90170-1. Lancet. 1995. PMID: 7823673

6

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

Jouet M, Rosenthal A, MacFarlane J, Kenwrick S, Donnai D. Jouet M, et al. Among authors: kenwrick s. Nat Genet. 1993 Aug;4(4):331. doi: 10.1038/ng0893-331. Nat Genet. 1993. PMID: 8401576 No abstract available.

7

Refining the genetic location of the gene for X linked hydrocephalus within Xq28.

Jouet M, Feldman E, Yates J, Donnai D, Paterson J, Siggers D, Kenwrick S. Jouet M, et al. Among authors: kenwrick s. J Med Genet. 1993 Mar;30(3):214-7. doi: 10.1136/jmg.30.3.214. J Med Genet. 1993. PMID: 8474107 Free PMC article.

8

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. Jouet M, et al. Among authors: kenwrick s. J Med Genet. 1996 Mar;33(3):248-50. doi: 10.1136/jmg.33.3.248. J Med Genet. 1996. PMID: 8728703 Free PMC article.

9

X linked hydrocephalus and MASA syndrome.

Kenwrick S, Jouet M, Donnai D. Kenwrick S, et al. J Med Genet. 1996 Jan;33(1):59-65. doi: 10.1136/jmg.33.1.59. J Med Genet. 1996. PMID: 8825051 Free PMC article. Review.

10

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

Bateman A, Jouet M, MacFarlane J, Du JS, Kenwrick S, Chothia C. Bateman A, et al. Among authors: kenwrick s. EMBO J. 1996 Nov 15;15(22):6050-9. EMBO J. 1996. PMID: 8947027 Free PMC article.

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