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Results 1-10 of 26 (Search time: 0.003 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.
2007
The original Lujan syndrome family has a novel missense mutation (p. N1007S) in the MED12 gene
Schwartz, C.
;
Tarpey, P.
;
Lubs, H.
;
Verloes, A.
;
May, M.
;
Risheg, H.
;
Friez, M.
;
Futreal, P.
;
Edkins, S.
;
Teague, J.
;
Briault, S.
;
Skinner, C.
;
Bauer-Carlin, A.
;
Simensin, R.
;
Joseph, S.
;
Jones, J.
;
Gecz, J.
;
Stratton, M.
;
Raymond, F.
;
Stevenson, R.
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.
2004
The molecular basis of intellectual disability: novel genes with naturally occurring mutations causing altered gene expression in the brain
Gecz, J.
2004
Mouse orthologue of ARX, a gene mutated in several X-linked forms of mental retardation and epilepsy, is a marker of adult neural stem cells and forebrain GABAergic neurons
Colombo, E.
;
Galli, R.
;
Cossu, G.
;
Gecz, J.
;
Broccoli, V.
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.
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.
2006
Disruptions of the novel KIAA1202 gene are associated with X-linked mental retardation
Hagens, O.
;
Dubos, A.
;
Abidi, F.
;
Barbi, G.
;
Van Zutven, L.
;
Hoeltzenbein, M.
;
Tommerup, N.
;
Moraine, C.
;
Fryns, J.
;
Chelly, J.
;
van Bokhoven, H.
;
Gecz, J.
;
Dollfus, H.
;
Ropers, H.
;
Schwartz, C.
;
de Cassia Stocco dos Santos, R.
;
Kalscheuer, V.
;
Hanauer, A.
2013
A regulatory path associated with X-linked intellectual disability and epilepsy links KDM5C to the polyalanine expansions in ARX
Poeta, L.
;
Fusco, F.
;
Drongitis, D.
;
Shoubridge, C.
;
Manganelli, G.
;
Filosa, S.
;
Paciolla, M.
;
Courtney, M.
;
Collombat, P.
;
Lioi, M.
;
Gecz, J.
;
Ursini, M.
;
Miano, M.
2010
Mutations in the small GTPase gene RAB39B are responsible for X-linked mental retardation associated with autism, epilepsy, and macrocephaly
Giannandrea, M.
;
Bianchi, V.
;
Mignogna, M.
;
Sirri, A.
;
Carrabino, S.
;
D'Elia, E.
;
Vecellio, M.
;
Russo, S.
;
Cogliati, F.
;
Larizza, L.
;
Ropers, H.
;
Tzschach, A.
;
Kalscheuer, V.
;
Oehl-Jaschkowitz, B.
;
Skinner, C.
;
Schwartz, C.
;
Gecz, J.
;
Van Esch, H.
;
Raynaud, M.
;
Chelly, J.
;
et al.
Discover
Author
8
Ropers, H.
7
Chelly, J.
7
Turner, G.
6
Kalscheuer, V.
6
Moraine, C.
5
Fryns, J.
5
Schwartz, C.
5
Shoubridge, C.
4
Boyle, J.
4
Corbett, M.
.
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Subject
16
Male
16
Mutation
15
Female
11
Chromosomes, Human, X
11
Molecular Sequence Data
11
Pedigree
7
Adult
7
Amino Acid Sequence
7
Animals
7
Transcription Factors
.
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Date issued
5
2010 - 2016
21
2003 - 2009