M Jouet
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Explore the profile of M Jouet including associated specialties, affiliations and a list of published articles.
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16
Citations
364
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Recent Articles
1.
Woffendin H, Jakins T, Jouet M, Stewart H, LANDY S, Haan E, et al.
Clin Genet
. 1999 Mar;
55(1):55-60.
PMID: 10066033
Familial incontinentia pigmenti (IP) is an X-linked dominant disorder with an extremely variable clinical presentation. Ambiguous diagnosis can complicate genetic counselling and attempts to refine the gene location in Xq28....
2.
Coutelle O, Nyakatura G, Taudien S, Elgar G, Brenner S, Platzer M, et al.
Gene
. 1998 Mar;
208(1):7-15.
PMID: 9479034
The human gene for the neural cell adhesion molecule L1 is located on Xq28 between the ALD and MeCP2 loci. Mutations in the L1 gene are associated with four related...
3.
Jouet M, Stewart H, LANDY S, Yates J, Yong S, Harris A, et al.
Eur J Hum Genet
. 1997 May;
5(3):168-70.
PMID: 9272741
A locus for the X-linked dominant genodermatosis incontinentia pigmenti (IP) has been linked to markers in Xq28. Here we report high lod scores for markers spanning the interval DXS52-DXYS154 using...
4.
MACFARLANE J, Du J, Pepys M, Ramsden S, Donnai D, Charlton R, et al.
Hum Mutat
. 1997 Jan;
9(6):512-8.
PMID: 9195224
Mutations in the gene for neural cell adhesion molecule L1 are responsible for the highly variable phenotype found in families with X-linked hydrocephalus, MASA syndrome, and spastic paraplegia type I....
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6.
Bateman A, Jouet M, MacFarlane J, Du J, Kenwrick S, Chothia C
EMBO J
. 1996 Nov;
15(22):6050-9.
PMID: 8947027
The L1 cell adhesion molecule has six domains homologous to members of the immunoglobulin superfamily and five homologous to fibronectin type III domains. We determined the outline structure of the...
7.
Jouet M, Strain L, Bonthron D, Kenwrick S
J Med Genet
. 1996 Mar;
33(3):248-50.
PMID: 8728703
X linked recessive hydrocephalus is the most common hereditary form of hydrocephalus. Genetic analysis indicates that the majority of cases are caused by mutations in a single gene in Xq28,...
8.
Kenwrick S, Jouet M, Donnai D
J Med Genet
. 1996 Jan;
33(1):59-65.
PMID: 8825051
X linked hydrocephalus and MASA syndrome are clinically related, neurological disorders with an X linked recessive mode of inheritance. Although originally described as distinct entities, their similarity has become apparent...
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Jouet M, Moncla A, Paterson J, McKeown C, Fryer A, Carpenter N, et al.
Am J Hum Genet
. 1995 Jun;
56(6):1304-14.
PMID: 7762552
The neural cell-adhesion molecule L1 is involved in intercellular recognition and neuronal migration in the CNS. Recently, we have shown that mutations in the gene encoding L1 are responsible for...