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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.
2004
Disruption of a new X linked gene highly expressed in brain in a family with two mentally retarded males
Cantagrel, V.
;
Lossi, A.
;
Boulanger, S.
;
Depetris, D.
;
Mattei, M.
;
Gecz, J.
;
Schwartz, C.
;
van Maldergem, L.
;
Villard, L.
2004
TM4SF10 gene sequencing in XLMR patients identifies common polymorphisms but no disease-associated mutation
Christophe-Hobertus, C.
;
Kooy, F.
;
Gecz, J.
;
Abramowicz, M.
;
Holinski-Feder, E.
;
Schwartz, C.
;
Christophe, D.
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.
2009
Unravelling the pathogenesis of the ARX homeobox mutations; role of IPO13
Shoubridge, C.
;
Tan, M.
;
Fullston, T.
;
McGillivray, G.
;
Mancini, G.
;
Gecz, J.
;
Annual meeting of the American Society of Human Genetics (59th : 2009 : Honolulu, Hawaii)
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.
2003
Brain cysts associated with mutation in the Aristaless related homeobox gene, ARX
Stromme, P.
;
Bakke, S.
;
Dahl, A.
;
Gecz, J.
2005
XLMR in MRX families 29, 32, 33 and 38 results from the dup24 mutation in the ARX (Aristaless related homeobox) gene
Stepp, M.
;
Cason, A.
;
Finnis, M.
;
Mangelsdorf, M.
;
Holinski-Feder, E.
;
Macgregor, D.
;
MacMillan, A.
;
Holden, J.
;
Gecz, J.
;
Stevenson, R.
;
Schwartz, C.
2003
Borjeson-Forssman-Lehmann syndrome and multiple pituitary hormone deficiency
Birrell, G.
;
Lampe, A.
;
Richmond, S.
;
Bruce, S.
;
Gecz, J.
;
Lower, K.
;
Wright, M.
2004
The molecular basis of intellectual disability: novel genes with naturally occurring mutations causing altered gene expression in the brain
Gecz, J.
Discover
Author
11
Fryns, J.
10
Moraine, C.
10
Turner, G.
9
Partington, M.
9
Ropers, H.
8
Chelly, J.
8
Kalscheuer, V.
7
Lower, K.
7
Schwartz, C.
7
Van Esch, H.
.
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Subject
51
Humans
29
Male
29
Mutation
20
Female
20
Pedigree
19
Molecular Sequence Data
18
Chromosomes, Human, X
16
Intellectual Disability
16
Mental Retardation, X-Linked
15
Transcription Factors
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2009
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