Jouet M[au] - Search Results

Year	Number of Results
1992	1
1993	2
1994	1
1995	4
1996	4
1997	2
1998	1
1999	1
2024	0

1

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.

2

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

3

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.

4

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

5

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

6

Casey Holter Essay Prize. The pathogenesis of X-linked hydrocephalus.

Jouet M. Jouet M. Eur J Pediatr Surg. 1995 Dec;5 Suppl 1:5-7. doi: 10.1055/s-2008-1066252. Eur J Pediatr Surg. 1995. PMID: 8770568 Review. No abstract available.

7

X-inactivation and marker studies in three families with incontinentia pigmenti: implications for counselling and gene localisation.

Woffendin H, Jakins T, Jouet M, Stewart H, Landy S, Haan E, Harris A, Donnai D, Read A, Kenwrick S. Woffendin H, et al. Among authors: jouet m. Clin Genet. 1999 Jan;55(1):55-60. doi: 10.1034/j.1399-0004.1999.550110.x. Clin Genet. 1999. PMID: 10066033

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

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. 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.

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

Save citations to file

Email citations

Send citations to clipboard

Add to Collections

Add to My Bibliography

Create a file for external citation management software

Your saved search

Your RSS Feed

My NCBI Filters

Results by year

Text availability

Article attribute

Article type

Publication date

16 results

Results by year

Search Page

Filters

My NCBI Filters

Results by year

Text availability

Article attribute

Article type

Publication date

Search Results

16 results

Results by year