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Results 1-10 of 13 (Search time: 0.002 seconds).
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Issue Date
Title
Author(s)
2000
FMR3 is a novel gene associated with FRAXE CpG island and transcriptionally silent in FRAXE full mutations
Gecz, J.
2008
Novel causative mutations in patients with Nance-Horan syndrome and altered localization of the mutant NHS-A protein isoform
Sharma, S.
;
Burdon, K.
;
Dave, A.
;
Jamieson, R.
;
Yaron, Y.
;
Billson, F.
;
van Maldergem, L.
;
Lorenz, B.
;
Gecz, J.
;
Craig, J.
2000
Identification of a mutation in the XNP/ATR-X gene in a family reported as Smith-Fineman-Myers syndrome
Villard, L.
;
Fontes, M.
;
Ades, L.
;
Gecz, J.
2004
Identification of a SEDL gene mutation in an individual with Leber hereditary optic neuropathy and spondyloepiphyseal dysplasia
Shaw, M.
;
Gecz, J.
;
McDonough, B.
;
Hodess, A.
;
Harter, D.
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.
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
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.
2001
A recurrent RNA-splicing mutation in the SEDL gene causes X-linked spondyloepiphyseal dysplasia tarda
Tiller, G.
;
Hannig, V.
;
Dozier, D.
;
Carrel, L.
;
Trevarthen, K.
;
Wilcox, W.
;
Mundlos, S.
;
Haines, J.
;
Gedeon, A.
;
Gecz, J.
2003
Disruption of the Serine/Threonine kinase 9 gene causes severe X-linked infantile spasms and mental retardation
Kalscheuer, V.
;
Tao, J.
;
Donnelly, A.
;
Hollway, G.
;
Schwinger, E.
;
Kubart, S.
;
Menzel, C.
;
Hoeltzenbein, M.
;
Tommerup, N.
;
Eyre, H.
;
Harbord, M.
;
Haan, E.
;
Sutherland, G.
;
Ropers, 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.
Discover
Author
4
Ropers, H.
3
Fryns, J.
3
Kalscheuer, V.
2
Chelly, J.
2
Hoeltzenbein, M.
2
Moraine, C.
2
Moser, B.
2
Schwinger, E.
2
Shaw, M.
2
Tao, J.
.
next >
Subject
13
Humans
11
Molecular Sequence Data
8
Male
7
Mutation
7
Pedigree
6
Chromosomes, Human, X
6
Female
5
Abnormalities, Multiple
5
Amino Acid Sequence
5
Intellectual Disability
.
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