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Results 1-10 of 15 (Search time: 0.003 seconds).
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Issue Date
Title
Author(s)
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.
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.
2007
Loss of SLC38A5 and FTSJ1 at Xp11.23 in three brothers with non-syndromic mental retardation due to a microdeletion in an unstable genomic region
Froyen, G.
;
Bauters, M.
;
Boyle, J.
;
Van Esch, H.
;
van Bokhoven, H.
;
Ropers, H.
;
Moraine, C.
;
Chelly, J.
;
Fryns, J.
;
Marynen, P.
;
Gecz, J.
;
Turner, G.
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.
2003
X-linked mild non-syndromic mental retardation with neuropsychiatric problems and the missense mutation A365E in PAK3
Gedeon, A.
;
Nelson, J.
;
Gecz, J.
;
Mulley, J.
2016
Xp11.2 microduplications including IQSEC2, TSPYL2 and KDM5C genes in patients with neurodevelopmental disorders
Moey, C.
;
Hinze, S.
;
Brueton, L.
;
Morton, J.
;
McMullan, D.
;
Kamien, B.
;
Barnett, C.
;
Brunetti-Pierri, N.
;
Nicholl, J.
;
Gecz, J.
;
Shoubridge, C.
2004
Mutations in the FTSJ1 gene coding for a novel S-adenosylmethionine-binding protein cause nonsyndromic X-linked mental retardation
Freude, K.
;
Hoffmann, K.
;
Jensen, L.
;
Delatycki, M.
;
des Portes, V.
;
Moser, B.
;
Hamel, B.
;
van Bokhoven, H.
;
Moraine, C.
;
Fryns, J.
;
Chelly, J.
;
Gecz, J.
;
Lenzner, S.
;
Kalscheuer, V.
;
Ropers, H.
2010
PHF6 mutations in T-cell acute lymphoblastic leukemia
Van Vlierberghe, P.
;
Palomero, T.
;
Khiabanian, H.
;
Van der Meulen, J.
;
Castillo, M.
;
Van Roy, N.
;
De Moerloose, B.
;
Philippe, J.
;
Gonzalez-Garcia, M.
;
Toribio, M.
;
Taghon, T.
;
Zuurbier, L.
;
Cauwelier, B.
;
Harrison, C.
;
Schwab, C.
;
Pisecker, M.
;
Strehl, S.
;
Langerak, A.
;
Gecz, J.
;
Sonneveld, E.
;
et al.
2009
The genetic landscape of intellectual disability arising from chromosome X
Gecz, J.
;
Shoubridge, C.
;
Corbett, M.
2007
Screening of 20 patients with X-linked mental retardation using chromosome X-specific array-MAPH
Kousoulidou, L.
;
Parkel, S.
;
Zilina, O.
;
Palta, P.
;
Puusepp, H.
;
Remm, M.
;
Turner, G.
;
Boyle, J.
;
van Bokhoven, H.
;
de Brouwer, A.
;
Van Esch, H.
;
Froyen, G.
;
Ropers, H.
;
Chelly, J.
;
Moraine, C.
;
Gecz, J.
;
Kurg, A.
;
Patsalis, P.
Discover
Author
4
Turner, G.
3
Boyle, J.
3
Chelly, J.
3
Kumar, R.
3
Mangelsdorf, M.
3
Moraine, C.
3
Ropers, H.
3
van Bokhoven, H.
2
Corbett, M.
2
Froyen, G.
.
next >
Subject
15
Humans
15
Male
9
Pedigree
6
Mental Retardation, X-Linked
5
Adult
5
Intellectual Disability
4
Child
4
Child, Preschool
4
Genetic Linkage
4
Mutation
.
next >
Date issued
4
2010 - 2016
11
2002 - 2009