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Results 1-10 of 26 (Search time: 0.002 seconds).
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Issue Date
Title
Author(s)
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.
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.
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.
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.
2008
Refined mapping of X-linked reticulate pigmentary disorder and sequencing of candidate genes
Jaekle Santos, L.
;
Xing, C.
;
Barnes, R.
;
Ades, L.
;
Megarbane, A.
;
Vidal, C.
;
Xuereb, A.
;
Tarpey, P.
;
Smith, R.
;
Khazab, M.
;
Shoubridge, C.
;
Partington, M.
;
Futreal, P.
;
Stratton, M.
;
Gecz, J.
;
Zinn, A.
2008
Oligosaccharyltransferase-Subunit Mutations in Nonsyndromic Mental Retardation
Molinari, F.
;
Foulquier, F.
;
Tarpey, P.
;
Morelle, W.
;
Boissel, S.
;
Teague, J.
;
Edkins, S.
;
Futreal, P.
;
Stratton, M.
;
Turner, G.
;
Matthijs, G.
;
Gecz, J.
;
Munnich, A.
;
Colleaux, L.
2004
1024C>T (R342X) is a recurrent RHF6 mutation also found in the original Börjeson-Forssman-Lehmann syndrome family
Lower, K.
;
Solders, G.
;
Bondeson, M.
;
Nelson, J.
;
Brun, A.
;
Crawford, J.
;
Malm, G.
;
Borjeson, M.
;
Turner, G.
;
Partington, M.
;
Gecz, J.
Discover
Author
3
et al.
3
Gedeon, A.
3
Mangelsdorf, M.
3
Mulley, J.
3
Shaw, M.
3
Van Esch, H.
2
Ades, L.
2
Burdon, K.
2
de Brouwer, A.
2
Freude, K.
.
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Subject
26
Humans
17
Pedigree
14
Mutation
11
Chromosomes, Human, X
11
Mental Retardation, X-Linked
10
Molecular Sequence Data
8
Adult
8
Genetic Linkage
7
Child, Preschool
7
Intellectual Disability
.
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2009
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2005
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2004
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2003
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2002
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