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Results 11-20 of 29 (Search time: 0.003 seconds).
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Issue Date
Title
Author(s)
2004
Three new families with X-linked mental retardation caused by the 428-451dup(24bp) mutation in ARX.
Partington, M.
;
Turner, G.
;
Boyle, J.
;
Gecz, J.
2003
Human wild-type SEDL protein functionally complements yeast Trs20p but some naturally occurring SEDL mutants do not
Gecz, J.
;
Shaw, M.
;
Bellon, J.
;
de Barros Lopes, M.
2003
Identification of three novel SEDL mutations, including mutation in the rare, non-canonical splice site of exon 4
Shaw, M.
;
Brunetti-Pierre, N.
;
Kadasi, L.
;
Kovacova, V.
;
van Maldergem, L.
;
De Brasi, D.
;
Salerno, M.
;
Gecz, J.
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.
2002
ARX, a novel Prd-class-homeobox gene highly expressed in the telencephalon, is mutated in X-linked mental retardation
Bienvenu, T.
;
Poirier, K.
;
Friocourt, G.
;
Bahi, N.
;
Beaumont, D.
;
Fauchereau, F.
;
Jeema, L.
;
Zemni, R.
;
Vinet, M.
;
Francis, F.
;
Couvert, P.
;
Gomot, M.
;
Moraine, C.
;
van Bokhoven, H.
;
Kalscheuer, V.
;
Frints, S.
;
Gecz, J.
;
Ohzaki, K.
;
Chaabouni, H.
;
Fryns, J.
;
et al.
2003
Mutations in a novel gene, NHS, cause the pleiotropic effects of Nance-Horan syndrome, including severe congenital cataract, dental anomalies, and mental retardation
Burdon, K.
;
McKay, J.
;
Sale, M.
;
Russell-Eggitt, I.
;
Mackey, D.
;
Wirth, G.
;
Elder, J.
;
Nicoll, A.
;
Clarke, M.
;
FitzGerald, L.
;
Stankovich, J.
;
Shaw, M.
;
Sharma, S.
;
Gajovic, S.
;
Gruss, P.
;
Ross, S.
;
Thomas, P.
;
Voss, A.
;
Thomas, T.
;
Gecz, J.
;
et al.
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.
2003
Nonsyndromic x-linked mental retardation: where are the missing mutations?
Ropers, H.
;
Hoeltzenbein, M.
;
Kalscheuer, V.
;
Yntema, H.
;
Hamel, B.
;
Fryns, J.
;
Chelly, J.
;
Partington, M.
;
Gecz, J.
;
Moraine, C.
2007
Molecular pathology of expanded polyalanine tract mutations in the Aristaless-related homeobox gene
Shoubridge, C.
;
Cloosterman, D.
;
Parkinson-Lawrence, E.
;
Brooks, D.
;
Gecz, J.
Discover
Author
4
et al.
4
Fryns, J.
4
Kalscheuer, V.
4
Mangelsdorf, M.
4
Moraine, C.
4
Partington, M.
3
Chelly, J.
3
Ropers, H.
3
Schwartz, C.
3
Shaw, M.
.
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Subject
29
Humans
17
Male
13
Transcription Factors
12
Molecular Sequence Data
11
Female
11
Intellectual Disability
11
Mental Retardation, X-Linked
11
Pedigree
9
Amino Acid Sequence
9
Animals
.
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