Jouet M - Search Results

1

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: jouet m. EMBO J. 1996 Nov 15;15(22):6050-9. EMBO J. 1996. PMID: 8947027 Free PMC article.

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: jouet m. Nat Genet. 1992 Oct;2(2):107-12. doi: 10.1038/ng1092-107. Nat Genet. 1992. PMID: 1303258

3

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

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

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

5

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. MacFarlane JR, et al. Among authors: jouet m. Hum Mutat. 1997;9(6):512-8. doi: 10.1002/(SICI)1098-1004(1997)9:6<512::AID-HUMU3>3.0.CO;2-3. Hum Mutat. 1997. PMID: 9195224

6

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. 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

7

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. Am J Hum Genet. 1995 Jun;56(6):1304-14. Am J Hum Genet. 1995. PMID: 7762552 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. 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. Among authors: jouet m. 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

The neural cell adhesion molecule L1: genomic organisation and differential splicing is conserved between man and the pufferfish Fugu.

Coutelle O, Nyakatura G, Taudien S, Elgar G, Brenner S, Platzer M, Drescher B, Jouet M, Kenwrick S, Rosenthal A. Coutelle O, et al. Among authors: jouet m. Gene. 1998 Feb 16;208(1):7-15. doi: 10.1016/s0378-1119(97)00614-8. Gene. 1998. PMID: 9479034

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