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Issue Date
Title
Author(s)
2008
X-linked protocadherin 19 mutations cause female-limited epilepsy and cognitive impairment
Dibbens, L.
;
Tarpey, P.
;
Hynes, K.
;
Bayly, M.
;
Scheffer, I.
;
Smith, R.
;
Bomar, J.
;
Sutton, E.
;
Vandeleur, L.
;
Shoubridge, C.
;
Edkins, S.
;
Turner, S.
;
Stevens, C.
;
O'Meara, S.
;
Tofts, C.
;
Barthorpe, S.
;
Buck, G.
;
Cole, J.
;
Halliday, K.
;
Jones, D.
;
et al.
2007
Mutations in the BRWD3 gene cause X-linked mental retardation associated with macrocephaly
Field, M.
;
Tarpey, P.
;
Smith, R.
;
Edkins, S.
;
O'Meara, S.
;
Stevens, C.
;
Tofts, C.
;
Teague, J.
;
Butler, A.
;
Dicks, E.
;
Barthorpe, S.
;
Buck, G.
;
Cole, J.
;
Gray, K.
;
Halliday, K.
;
Hills, K.
;
Jenkinson, A.
;
Jones, D.
;
Menzies, A.
;
Mironenko, T.
;
et al.
2007
Mutations in ZDHHC9, which encodes a palmitoyltransferase of NRAS and HRAS, cause X-linked mental retardation associated with a marfanoid habitus
Raymond, F.
;
Tarpey, P.
;
Edkins, S.
;
Tofts, C.
;
O'Meara, S.
;
Teague, J.
;
Butler, A.
;
Stevens, C.
;
Barthorpe, S.
;
Buck, G.
;
Cole, J.
;
Dicks, E.
;
Gray, K.
;
Harrison, R.
;
Hills, K.
;
Hinton, J.
;
Jones, D.
;
Menzies, A.
;
Perry, J.
;
Raine, K.
;
et al.
2007
Mutations in UPF3B, a member of the nonsense-mediated mRNA decay complex, cause syndromic and nonsyndromic mental retardation
Tarpey, P.
;
Raymond, F.
;
Nguyen, L.
;
Rodriguez, J.
;
Hackett, A.
;
Vandeleur, L.
;
Smith, R.
;
Shoubridge, C.
;
Edkins, S.
;
Stevens, C.
;
O'Meara, S.
;
Tofts, C.
;
Barthorpe, S.
;
Buck, G.
;
Cole, J.
;
Halliday, K.
;
Hills, K.
;
Jones, D.
;
Mironenko, T.
;
Perry, J.
;
et al.
2007
Mutations in CUL4B which encodes a ubiquitin E3 ligase subunit cause an X-linked mental retardation syndrome associated with aggressive outbursts seizures relative macrocephaly central obesity hypogonadism pes cavus and tremor
Tarpey, P.
;
Raymond, F.
;
O'Meara, S.
;
Edkins, S.
;
Teague, J.
;
Butler, A.
;
Dicks, E.
;
Stevens, C.
;
Tofts, C.
;
Avis, T.
;
Barthorpe, S.
;
Buck, G.
;
Cole, J.
;
Gray, K.
;
Halliday, K.
;
Harrison, R.
;
Hills, K.
;
Jenkinson, A.
;
Jones, D.
;
Menzies, A.
;
et al.
2009
A systematic, large-scale resequencing screen of X-chromosome coding exons in mental retardation
Tarpey, P.
;
Smith, R.
;
Pleasance, E.
;
Whibley, A.
;
Edkins, S.
;
Hardy, C.
;
O'Meara, S.
;
Latimer, C.
;
Dicks, E.
;
Menzies, A.
;
Stephens, P.
;
Blow, M.
;
Greenman, C.
;
Xue, Y.
;
Tyler-Smith, C.
;
Thompson, D.
;
Gray, K.
;
Andrews, J.
;
Barthorpe, S.
;
Buck, G.
;
et al.
Discover
Author
6
Buck, G.
6
O'Meara, S.
5
Cole, J.
5
Jones, D.
5
Stevens, C.
5
Tofts, C.
4
Dicks, E.
4
Gray, K.
4
Halliday, K.
4
Hills, K.
.
next >
Subject
6
Humans
6
Mental Retardation, X-Linked
5
Pedigree
4
Female
4
Mutation
3
Amino Acid Sequence
3
Molecular Sequence Data
2
Abnormalities, Multiple
2
Chromosomes, Human, X
2
Codon, Nonsense
.
next >
Date issued
1
2009
1
2008
4
2007