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Results 1-10 of 16 (Search time: 0.002 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.
2008
A novel locus for X-linked congenital cataract on Xq24
Craig, J.
;
Friend, K.
;
Gecz, J.
;
Rattray, K.
;
Trotski, M.
;
Mackey, D.
;
Burdon, K.
2005
Twenty-six novel EFNB1 mutations in familial and sporadic craniofrontonasal syndrome (CFNS)
Wieland, I.
;
Reardon, W.
;
Jakubiczka, S.
;
Franco, B.
;
Kress, W.
;
Vincent-Delorme, C.
;
Theirry, P.
;
Edwards, M.
;
Konig, R.
;
Rusu, C.
;
Schweiger, S.
;
Thompson, E.
;
Tinschert, S.
;
Stewart, F.
;
Wieacker, P.
2002
Variable expression of mental retardation, autism, seizures, and dystonic hand movements in two families with an identical ARX gene mutation
Turner, G.
;
Partington, M.
;
Kerr, B.
;
Mangelsdorf, M.
;
Gecz, J.
2010
Fine-scale survey of X chromosome copy number variants and indels underlying intellectual disability
Whibley, A.
;
Plagnol, V.
;
Tarpey, P.
;
Abidi, F.
;
Fullston, T.
;
Choma, M.
;
Boucher, C.
;
Shepherd, L.
;
Willatt, L.
;
Parkin, G.
;
Smith, R.
;
Futreal, P.
;
Shaw, M.
;
Boyle, J.
;
Licata, A.
;
Skinner, C.
;
Stevenson, R.
;
Turner, G.
;
Field, M.
;
Hackett, A.
;
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.
2005
Ratio of male to female births in the offspring of BRCA1 and BRCA2 carriers
Chenevix-Trench, G.
;
Sinilnikova, O.
;
Suthers, G.
;
Pandeya, N.
;
Mazoyer, S.
;
Sambrook, J.
;
Goldup, S.
;
Goldgar, D.
;
Lynch, H.
;
Lenoir, G.
;
Cheetham, G.
2004
Mutations in the X-linked cyclin-dependent kinase-like 5 (CDKL5/STK9) gene are associated with severe neurodevelopmental retardation
Tao, J.
;
Van Esch, H.
;
Hagedorn-Greiwe, M.
;
Hoffmann, K.
;
Moser, B.
;
Raynaud, M.
;
Sperner, J.
;
Fryns, J.
;
Schwinger, E.
;
Gecz, J.
;
Ropers, H.
;
Kalscheuer, V.
2005
Duplication of the MECP2 region is a frequent cause of severe mental retardation and progressive neurological symptoms in males
Van Esch, H.
;
Bauters, M.
;
Ignatius, J.
;
Jansen, M.
;
Raynaud, M.
;
Hollanders, K.
;
Lutenberg, D.
;
Bienvenu, T.
;
Jensen, L.
;
Gecz, J.
;
Moraine, C.
;
Marynen, P.
;
Fryns, J.
;
Froyen, G.
2004
Mutations in the FTSJ1 gene coding for a novel S-adenosylmethionine-binding protein cause nonsyndromic X-linked mental retardation
Freude, K.
;
Hoffmann, K.
;
Jensen, L.
;
Delatycki, M.
;
des Portes, V.
;
Moser, B.
;
Hamel, B.
;
van Bokhoven, H.
;
Moraine, C.
;
Fryns, J.
;
Chelly, J.
;
Gecz, J.
;
Lenzner, S.
;
Kalscheuer, V.
;
Ropers, H.
Discover
Author
8
Gecz, J.
7
et al.
6
Tarpey, P.
4
Fryns, J.
3
Abidi, F.
3
Edkins, S.
3
Futreal, P.
3
Kalscheuer, V.
3
Moraine, C.
3
O'Meara, S.
.
next >
Subject
16
Humans
12
Male
11
Female
8
Molecular Sequence Data
6
Intellectual Disability
6
Mental Retardation, X-Linked
6
Mutation
5
Amino Acid Sequence
5
Base Sequence
4
Adult
.
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Date issued
2
2010
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2009
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2008
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2005
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2004
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2003
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2002