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Results 1-10 of 13 (Search time: 0.002 seconds).
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Issue Date
Title
Author(s)
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.
2001
HPP1: A transmembrane protein-encoding gene commonly methylated in colorectal polyps and cancers
Young, J.
;
Biden, K.
;
Simms, L.
;
Huggard, P.
;
Karamatic, R.
;
Eyre, H.
;
Sutherland, G.
;
Herath, N.
;
Barker, M.
;
Anderson, G.
;
Fitzpatrick, D.
;
Ramm, G.
;
Jass, J.
;
Leggett, B.
2006
Disruptions of the novel KIAA1202 gene are associated with X-linked mental retardation
Hagens, O.
;
Dubos, A.
;
Abidi, F.
;
Barbi, G.
;
Van Zutven, L.
;
Hoeltzenbein, M.
;
Tommerup, N.
;
Moraine, C.
;
Fryns, J.
;
Chelly, J.
;
van Bokhoven, H.
;
Gecz, J.
;
Dollfus, H.
;
Ropers, H.
;
Schwartz, C.
;
de Cassia Stocco dos Santos, R.
;
Kalscheuer, V.
;
Hanauer, A.
2000
Gene encoding the mouse sulphamidase: cDNA cloning, structure, and chromosomal mapping
Costanzi, E.
;
Beccari, T.
;
Stinchi, S.
;
Bibi, L.
;
Hopwood, J.
;
Orlacchio, A.
2001
MUC13, a novel human cell surface mucin expressed by epithelial and hemopoietic cells
Williams, S.
;
Wreschner, D.
;
Tran, M.
;
Eyre, H.
;
Sutherland, G.
;
McGuckin, M.
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.
2004
HLS5, a novel RBCC (ring finger, B box, coiled-coil) family member isolated from a hemopoietic lineage switch, is a candidate tumor suppressor
Lalonde, J.
;
Lim, R.
;
Ingley, E.
;
Tilbrook, P.
;
Thompson, M.
;
McCulloch, R.
;
Beaumont, J.
;
Wicking, C.
;
Eyre, H.
;
Sutherland, G.
;
Howe, K.
;
Solomon, E.
;
Williams, J.
;
Klinken, S.
2004
Mutations of CDKL5 cause a severe neurodevelopmental disorder with infantile spasms and mental retardation
Weaving, L.
;
Christodoulou, J.
;
Williamson, S.
;
Friend, K.
;
McKenzie, O.
;
Archer, H.
;
Evans, J.
;
Clarke, A.
;
Pelka, G.
;
Tam, P.
;
Watson, C.
;
Lahooti, H.
;
Ellaway, C.
;
Bennetts, B.
;
Leonard, H.
;
Gecz, J.
2007
Functional characterization of GATA3 mutations causing the hypoparathyroidism-deafness-renal (HDR) dysplasia syndrome: insight into mechanisms of DNA binding by the GATA3 transcription factor
Ali, A.
;
Christie, P.
;
Grigorieva, I.
;
Harding, B.
;
Van Esch, H.
;
Ahmed, S.
;
Bitner-Glindzicz, M.
;
Blind, E.
;
Bloch, C.
;
Christin, P.
;
Clayton, P.
;
Gecz, J.
;
Gilbert-Dussardier, B.
;
Guillen-Navarro, E.
;
Hackett, A.
;
Halac, I.
;
Hendy, G.
;
Lalloo, F.
;
Mache, C.
;
Mughal, Z.
;
et al.
2001
A novel missense mutation in lysosomal sulfamidase is the basis of MPS III A in a spontaneous mouse mutant
Bhattacharyya, R.
;
Gliddon, B.
;
Beccari, T.
;
Hopwood, J.
;
Stanley, P.
Discover
Author
5
Gecz, J.
4
Eyre, H.
4
Sutherland, G.
3
Hopwood, J.
2
Beccari, T.
2
et al.
2
Fryns, J.
2
Kalscheuer, V.
2
Ropers, H.
2
Van Esch, H.
.
next >
Subject
11
Humans
6
Animals
6
Sequence Homology, Amino Acid
5
DNA
5
DNA, Complementary
5
Mice
5
Pedigree
4
Chromosomes, Human, X
4
Cloning, Molecular
4
Female
.
next >
Date issued
2
2007
1
2006
3
2004
1
2003
1
2002
4
2001
1
2000