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Results 1-10 of 32 (Search time: 0.003 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.
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
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.
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.
2015
Novel IL1RAPL1 mutations associated with intellectual disability impair synaptogenesis
Ramos-Brossier, M.
;
Montani, C.
;
Lebrun, N.
;
Gritti, L.
;
Martin, C.
;
Seminatore-Nole, C.
;
Toussaint, A.
;
Moreno, S.
;
Poirier, K.
;
Dorseuil, O.
;
Chelly, J.
;
Hackett, A.
;
Gecz, J.
;
Bieth, E.
;
Faudet, A.
;
Heron, D.
;
Kooy, R.
;
Loeys, B.
;
Humeau, Y.
;
Sala, C.
;
et al.
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.
2015
Mutations in the intellectual disability gene KDM5C reduce protein stability and demethylase activity
Brookes, E.
;
Laurent, B.
;
Õunap, K.
;
Carroll, R.
;
Moeschler, J.
;
Field, M.
;
Schwartz, C.
;
Gecz, J.
;
Shi, Y.
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.
2012
A noncoding, regulatory mutation implicates HCFC1 in nonsyndromic intellectual disability
Huang, L.
;
Jolly, L.
;
Willis-Owen, S.
;
Gardner, A.
;
Sharma, R.
;
Douglas, E.
;
Shoubridge, C.
;
Wieczorek, D.
;
Tzschach, A.
;
Cohen, M.
;
Hackett, A.
;
Field, M.
;
Froyen, G.
;
Hu, H.
;
Haas, S.
;
Ropers, H.
;
Kalscheuer, V.
;
Corbett, M.
;
Gecz, J.
2016
Disruptive de novo mutations of DYRK1A lead to a syndromic form of autism and ID
van Bon, B.W.M.
;
Coe, B.P.
;
Bernier, R.
;
Green, C.
;
Gerdts, J.
;
Witherspoon, K.
;
Kleefstra, T.
;
Willemsen, M.H.
;
Kumar, R.
;
Bosco, P.
;
Fichera, M.
;
Li, D.
;
Amaral, D.
;
Cristofoli, F.
;
Peeters, H.
;
Haan, E.
;
Romano, C.
;
Mefford, H.C.
;
Scheffer, I.
;
Gecz, J.
;
et al.
Discover
Author
8
et al.
5
Haan, E.
5
Schwartz, C.
4
Hackett, A.
4
Kalscheuer, V.
3
Chelly, J.
3
Field, M.
3
Jolly, L.
3
Mangelsdorf, M.
3
Nguyen, L.
.
next >
Subject
24
Female
16
Intellectual Disability
15
Pedigree
12
Adult
12
Molecular Sequence Data
11
Animals
9
Child
9
Transcription Factors
8
Mental Retardation, X-Linked
8
Mice
.
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Date issued
15
2010 - 2016
17
2000 - 2009