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Issue Date
Title
Author(s)
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.
2000
Breast cancer screening uptake in women at increased risk of developing hereditary breast cancer
Meiser, B.
;
Butow, P.
;
Barratt, A.
;
Friedlander, M.
;
Kirk, J.
;
Gaff, C.
;
Haan, E.
;
Aittomaki, K.
;
Tucker, K.
2007
Multicentre search for genetic susceptibility loci in sporadic epilepsy syndrome and seizure types: a case-control study
Cavalleri, G.
;
Weale, M.
;
Shianna, K.
;
Singh, R.
;
Lynch, J.
;
Grinton, B.
;
Szoeke, C.
;
Murphy, K.
;
Kinirons, P.
;
O'Rourke, D.
;
Ge, D.
;
Depondt, C.
;
Claeys, K.
;
Pandolfo, M.
;
Gumbs, C.
;
Walley, N.
;
McNamara, J.
;
Mulley, J.
;
Linney, K.
;
Sheffield, L.
;
et al.
2005
Sleep-disordered breathing in Prader-Willi syndrome and its association with neurobehavioral abnormalities
O'Donoghue, F.
;
Camfferman, D.
;
Kennedy, J.
;
Martin, A.
;
Couper, T.
;
Lack, L.
;
Lushington, K.
;
McEvoy, R.
2003
Identification of three novel SEDL mutations, including mutation in the rare, non-canonical splice site of exon 4
Shaw, M.
;
Brunetti-Pierre, N.
;
Kadasi, L.
;
Kovacova, V.
;
van Maldergem, L.
;
De Brasi, D.
;
Salerno, M.
;
Gecz, J.
2001
Long-term outcomes of genetic counseling in women at increased risk of developing hereditary breast cancer
Meiser, B.
;
Butow, P.
;
Barratt, A.
;
Schneiden, V.
;
Gattas, M.
;
Kirk, J.
;
Gaff, C.
;
Suthers, G.
;
Tucker, K.
2005
Mutations in the JARID1C gene, which is involved in transcriptional regulation and chromatin remodeling, cause X-linked mental retardation
Jensen, L.
;
Amende, M.
;
Gurok, U.
;
Moser, B.
;
Gimmel, V.
;
Tzschach, A.
;
Janecke, A.
;
Tariverdian, G.
;
Chelly, J.
;
Fryns, J.
;
Van Esch, H.
;
Kleefstra, T.
;
Hamel, B.
;
Moraine, C.
;
Gecz, J.
;
Turner, G.
;
Reinhardt, R.
;
Kalscheuer, V.
;
Ropers, H.
;
Lenzer, S.
2007
An absence of cutaneous neurofibromas associated with a 3-bp inframe deletion in Exon 17 of the NF1 gene (c.2970-2972 delAAT): evidence of a clinically significant NF1 genotype-phenotype correlation
Upadyaya, M.
;
Huson, S.
;
Davies, M.
;
Thomas, N.
;
Chuzhanova, N.
;
Giovannini, S.
;
Evans, D.
;
Howard, E.
;
Kerr, B.
;
Kerr, B.
;
Consoli, C.
;
Side, L.
;
Adams, D.
;
Pierpont, M.
;
Hatchen, R.
;
Barnicoat, A.
;
Li, H.
;
Wallace, P.
;
Van Biervliet, J.
;
Stevenson, D.
;
et al.
2001
A recurrent RNA-splicing mutation in the SEDL gene causes X-linked spondyloepiphyseal dysplasia tarda
Tiller, G.
;
Hannig, V.
;
Dozier, D.
;
Carrel, L.
;
Trevarthen, K.
;
Wilcox, W.
;
Mundlos, S.
;
Haines, J.
;
Gedeon, A.
;
Gecz, J.
2002
ARX, a novel Prd-class-homeobox gene highly expressed in the telencephalon, is mutated in X-linked mental retardation
Bienvenu, T.
;
Poirier, K.
;
Friocourt, G.
;
Bahi, N.
;
Beaumont, D.
;
Fauchereau, F.
;
Jeema, L.
;
Zemni, R.
;
Vinet, M.
;
Francis, F.
;
Couvert, P.
;
Gomot, M.
;
Moraine, C.
;
van Bokhoven, H.
;
Kalscheuer, V.
;
Frints, S.
;
Gecz, J.
;
Ohzaki, K.
;
Chaabouni, H.
;
Fryns, J.
;
et al.
Discover
Author
14
Hopwood, J.
13
Haan, E.
9
Gecz, J.
9
Hodge, G.
9
Hodge, S.
8
Suthers, G.
7
Brooks, D.
7
et al.
7
Holmes, M.
7
Meikle, P.
.
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Subject
128
Humans
89
Female
75
Male
55
Middle Aged
51
Adolescent
43
Child
30
Child, Preschool
25
Aged
25
Infant
19
Infant, Newborn
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Date issued
16
2009
21
2008
15
2007
6
2006
23
2005
9
2004
7
2003
8
2002
8
2001
15
2000
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