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Results 1-10 of 28 (Search time: 0.004 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.
2015
Novel IL1RAPL1 mutations associated with intellectual disability impair synaptogenesis
Ramos-Brossier, M.
;
Montani, C.
;
Lebrun, N.
;
Gritti, L.
;
Martin, C.
;
Seminatore-Nole, C.
;
Toussaint, A.
;
Moreno, S.
;
Poirier, K.
;
Dorseuil, O.
;
Chelly, J.
;
Hackett, A.
;
Gecz, J.
;
Bieth, E.
;
Faudet, A.
;
Heron, D.
;
Kooy, R.
;
Loeys, B.
;
Humeau, Y.
;
Sala, C.
;
et al.
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.
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.
2015
HCFC1 loss-of-function mutations disrupt neuronal and neural progenitor cells of the developing brain.
Jolly, L.
;
Nguyen, L.
;
Domingo, D.
;
Sun, Y.
;
Barry, S.
;
Hancarova, M.
;
Plevova, P.
;
Vlckova, M.
;
Havlovicova, M.
;
Kalscheuer, V.
;
Graziano, C.
;
Pippucci, T.
;
Bonora, E.
;
Sedlacek, Z.
;
Gecz, J.
2014
Mutations in mammalian target of rapamycin regulator DEPDC5 cause focal epilepsy with brain malformations
Scheffer, I.
;
Heron, S.
;
Regan, B.
;
Mandelstam, S.
;
Crompton, D.
;
Hodgson, B.
;
Licchetta, L.
;
Provini, F.
;
Bisulli, F.
;
Vadlamudi, L.
;
Gecz, J.
;
Connelly, A.
;
Tinuper, P.
;
Ricos, M.
;
Berkovic, S.
;
Dibbens, L.
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.
2012
PRRT2 mutations cause benign familial infantile epilepsy and infantile convulsions with choreoathetosis syndrome
Heron, S.
;
Grinton, B.
;
Kivity, S.
;
Afawi, Z.
;
Zuberi, S.
;
Hughes, J.
;
Pridmore, C.
;
Hodgson, B.
;
Iona, X.
;
Sadleir, L.
;
Pelekanos, J.
;
Herlenius, E.
;
Goldberg-Stern, H.
;
Bassan, H.
;
Haan, E.
;
Korczyn, A.
;
Gardner, A.
;
Corbett, M.
;
Gecz, J.
;
Thomas, P.
;
et al.
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
4
Partington, M.
4
Ropers, H.
3
Haan, E.
3
Hoffmann, K.
3
Raynaud, M.
3
Shaw, M.
3
Stratton, M.
3
Tarpey, P.
3
Tzschach, A.
2
Ades, L.
.
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Subject
28
Humans
23
Male
18
Female
18
Mutation
14
Adult
14
Molecular Sequence Data
11
Intellectual Disability
10
Amino Acid Sequence
10
Base Sequence
9
Child, Preschool
.
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Date issued
8
2010 - 2015
20
2000 - 2009