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Results 1-10 of 12 (Search time: 0.003 seconds).
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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.
2008
Submicroscopic duplications of the hydroxysteroid dehydrogenase HSD17B10 and the E3 ubiquitin ligase HUWE1 are associated with mental retardation
Froyen, G.
;
Corbett, M.
;
Vandewalle, J.
;
Jarvela, I.
;
Lawrence, O.
;
Meldrum, C.
;
Bauters, M.
;
Govaerts, K.
;
Vandeleur, L.
;
Van Esch, H.
;
Chelly, J.
;
Sanlaville, D.
;
van Bokhoven, H.
;
Ropers, H.
;
Laumonnier, F.
;
Ranieri, E.
;
Schwartz, C.
;
Abidi, F.
;
Tarpey, P.
;
Futreal, P.
;
et al.
2010
Mutations in the small GTPase gene RAB39B are responsible for X-linked mental retardation associated with autism, epilepsy, and macrocephaly
Giannandrea, M.
;
Bianchi, V.
;
Mignogna, M.
;
Sirri, A.
;
Carrabino, S.
;
D'Elia, E.
;
Vecellio, M.
;
Russo, S.
;
Cogliati, F.
;
Larizza, L.
;
Ropers, H.
;
Tzschach, A.
;
Kalscheuer, V.
;
Oehl-Jaschkowitz, B.
;
Skinner, C.
;
Schwartz, C.
;
Gecz, J.
;
Van Esch, H.
;
Raynaud, M.
;
Chelly, J.
;
et al.
2008
SLC9A6 mutations cause X-linked mental retardation, microcephaly, epilepsy, and ataxia, a phenotype mimicking Angelman syndrome
Gilfillan, G.
;
Selmer, K.
;
Roxrud, I.
;
Smith, R.
;
Kyllerman, M.
;
Eiklid, K.
;
Kroken, M.
;
Mattingsdal, M.
;
Egeland, T.
;
Stenmark, H.
;
Sjoholm, H.
;
Server, A.
;
Samuelsson, L.
;
Christianson, A.
;
Tarpey, P.
;
Whibley, A.
;
Stratton, M.
;
Futreal, P.
;
Teague, J.
;
Edkins, S.
;
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.
2010
Mutations in the guanine nucleotide exchange factor gene IQSEC2 cause nonsyndromic intellectual disability
Shoubridge, C.
;
Tarpey, P.
;
Abidi, F.
;
Ramsden, S.
;
Rujirabanjerd, S.
;
Murphy, J.
;
Boyle, J.
;
Shaw, M.
;
Gardner, A.
;
Proos, A.
;
Puusepp, H.
;
Raymond, F.
;
Schwartz, C.
;
Stevenson, R.
;
Turner, G.
;
Field, M.
;
Walikonis, R.
;
Harvey, R.
;
Hackett, A.
;
Futreal, P.
;
et al.
2004
Mutations in the DLG3 gene cause nonsyndromic X-linked mental retardation
Tarpey, P.
;
Parnau, J.
;
Blow, M.
;
Woffendin, H.
;
Bignell, G.
;
Cox, C.
;
Cox, J.
;
Davies, H.
;
Edkins, S.
;
Holden, S.
;
Korny, A.
;
Mallya, U.
;
Moon, J.
;
O'Meara, S.
;
Parker, A.
;
Stephens, P.
;
Stevens, C.
;
Teague, J.
;
Donnelly, A.
;
Mangelsdorf, M.
;
et al.
Discover
Author
9
Tarpey, P.
7
Edkins, S.
6
O'Meara, S.
5
Barthorpe, S.
5
Buck, G.
5
Smith, R.
5
Stevens, C.
4
Cole, J.
4
Jones, D.
4
Teague, J.
.
next >
Subject
12
Humans
11
Male
9
Female
9
Mutation
6
Molecular Sequence Data
5
Chromosomes, Human, X
4
Base Sequence
4
DNA Mutational Analysis
3
Animals
3
Epilepsy
.
next >
Date issued
3
2010 - 2018
9
2003 - 2009