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Results 1-10 of 29 (Search time: 0.002 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
A novel locus for X-linked congenital cataract on Xq24
Craig, J.
;
Friend, K.
;
Gecz, J.
;
Rattray, K.
;
Trotski, M.
;
Mackey, D.
;
Burdon, K.
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.
2003
Borjeson-Forssman-Lehmann syndrome and multiple pituitary hormone deficiency
Birrell, G.
;
Lampe, A.
;
Richmond, S.
;
Bruce, S.
;
Gecz, J.
;
Lower, K.
;
Wright, M.
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.
2004
Identification of a SEDL gene mutation in an individual with Leber hereditary optic neuropathy and spondyloepiphyseal dysplasia
Shaw, M.
;
Gecz, J.
;
McDonough, B.
;
Hodess, A.
;
Harter, D.
Discover
Author
6
Turner, G.
5
Fryns, J.
5
Moraine, C.
4
Chelly, J.
4
Jensen, L.
4
Partington, M.
4
Ropers, H.
4
Shaw, M.
4
Van Esch, H.
3
Burdon, K.
.
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Subject
29
Humans
19
Female
17
Mutation
17
Pedigree
11
Intellectual Disability
11
Molecular Sequence Data
9
Chromosomes, Human, X
9
Mental Retardation, X-Linked
9
Syndrome
8
Adult
.
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2009
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2007
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2006
4
2005
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2004
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2003
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2002
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2001
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2000
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