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Results 1-10 of 17 (Search time: 0.002 seconds).
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Issue Date
Title
Author(s)
2010
ARX spectrum disorders: Making inroads into the molecular pathology
Shoubridge, C.
;
Fullston, T.
;
Gecz, J.
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.
2010
Hypomorphic temperature-sensitive alleles of NSDHL cause CK syndrome
Gecz, J.
2010
CASK mutations are frequent in males and cause X-linked nystagmus and variable XLMR phenotypes
Hackett, A.
;
Tarpey, P.
;
Licata, A.
;
Cox, J.
;
Whibley, A.
;
Boyle, J.
;
Rogers, C.
;
Grigg, J.
;
Partington, M.
;
Stevenson, R.
;
Tolmie, J.
;
Yates, J.
;
Turner, G.
;
Wilson, M.
;
Futreal, P.
;
Corbett, M.
;
Shaw, M.
;
Gecz, J.
;
Raymond, F.
;
Stratton, M.
2010
Identification and characterization of two novel JARID1C mutations: suggestion of an emerging genotype-phenotype correlation
Rujirabanjerd, S.
;
Nelson, J.
;
Tarpey, P.
;
Hackett, A.
;
Edkins, S.
;
Raymond, F.
;
Schwartz, C.
;
Turner, G.
;
Iwase, S.
;
Shi, Y.
;
Futreal, P.
;
Stratton, M.
;
Gecz, J.
2010
PHF6 mutations in T-cell acute lymphoblastic leukemia
Van Vlierberghe, P.
;
Palomero, T.
;
Khiabanian, H.
;
Van der Meulen, J.
;
Castillo, M.
;
Van Roy, N.
;
De Moerloose, B.
;
Philippe, J.
;
Gonzalez-Garcia, M.
;
Toribio, M.
;
Taghon, T.
;
Zuurbier, L.
;
Cauwelier, B.
;
Harrison, C.
;
Schwab, C.
;
Pisecker, M.
;
Strehl, S.
;
Langerak, A.
;
Gecz, J.
;
Sonneveld, E.
;
et al.
2010
Ohtahara syndrome in a family with an ARX protein truncation mutation (c.81C>G/p.Y27X)
Fullston, T.
;
Brueton, L.
;
Willis, T.
;
Philip, S.
;
MacPherson, L.
;
Finnis, M.
;
Gecz, J.
;
Morton, J.
2010
A recurrent 16p12.1 microdeletion supports a two-hit model for severe developmental delay
Haan, E.
;
Gecz, J.
2010
Mutations of the UPF3B gene, which encodes a protein widely expressed in neurons, are associated with nonspecific mental retardation with or without autism
Laumonnier, F.
;
Shoubridge, C.
;
Antar, C.
;
Nguyen, L.
;
Van Esch, H.
;
Kleefstra, T.
;
Briault, S.
;
Fryns, J.
;
Hamel, B.
;
Chelly, J.
;
Ropers, H.
;
Ronce, N.
;
Blesson, S.
;
Moraine, C.
;
Gecz, J.
;
Raynaud, M.
2010
Genetics of the epilepsies: Genetic twists in the channels and other tales
Scheffer, I.
;
Zhang, Y.
;
Gecz, J.
;
Dibbens, L.
Discover
Author
4
Fullston, T.
4
Shoubridge, C.
3
Chelly, J.
3
Hackett, A.
3
Raynaud, M.
3
Ropers, H.
3
Scheffer, I.
3
Stratton, M.
3
Tarpey, P.
3
Turner, G.
.
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8
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7
Female
6
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5
Child
5
Mutation
4
Adult
4
Pedigree
3
Animals
3
Epilepsy
3
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