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Results 21-30 of 54 (Search time: 0.003 seconds).
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Issue Date
Title
Author(s)
2010
A focal Eeilepsy and intellectual disability syndrome is due to a mutation in TBC1D24
Bahlo, M.
;
Jolly, L.
;
Afawi, Z.
;
Gardner, A.
;
Oliver, K.
;
Tan, S.
;
Coffey, A.
;
Mulley, J.
;
Dibbens, L.
;
Simri, W.
;
Shalata, A.
;
Kivity, S.
;
Jackson, G.
;
Berkovic, S.
;
Gecz, J.
;
Corbett, 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.
2010
Hypomorphic temperature-sensitive alleles of NSDHL cause CK syndrome
Gecz, J.
2012
Broadening the phenotype associated with mutations in UPF3B: two further cases with renal dysplasia and variable developmental delay
Lynch, S.
;
Nguyen, L.
;
Ng, L.
;
Waldron, M.
;
McDonald, D.
;
Gecz, J.
2014
Phenotype-genotype complexities: opening DOORS
Berkovic, S.
;
Gecz, J.
2012
CCDC22: a novel candidate gene for syndromic X-linked intellectual disability
Voineagu, J.
;
Huang, L.
;
Winden, K.
;
Lazaro, M.
;
Haan, E.
;
Nelson, J.
;
McGaughran, J.
;
Nguyen, L.
;
Friend, K.
;
Hackett, A.
;
Field, M.
;
Gecz, J.
;
Geschwind, D.
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.
2012
ARX homeodomain mutations abolish DNA binding and lead to a loss of transcriptional repression
Shoubridge, C.
;
Tan, M.
;
Seiboth, G.
;
Gecz, J.
2013
Contribution of copy number variants involving nonsense-mediated mRNA decay pathway genes to neuro-developmental disorders
Nguyen, L.
;
Kim, H.
;
Rosenfeld, J.
;
Shen, Y.
;
Gusella, J.
;
Lacassie, Y.
;
Layman, L.
;
Shaffer, L.
;
Gecz, J.
2011
Functional characterization of the AFF (AF4/FMR2) family of RNA-binding proteins: insights into the molecular pathology of FRAXE intellectual disability
Melko, M.
;
Douguet, D.
;
Bensaid, M.
;
Zongaro, S.
;
Verheggen, C.
;
Gecz, J.
;
Bardoni, B.
Discover
Author
10
Corbett, M.
10
Jolly, L.
9
Haan, E.
8
et al.
7
Berkovic, S.
7
Nguyen, L.
7
Scheffer, I.
7
Shoubridge, C.
6
Gardner, A.
6
Hackett, A.
.
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Subject
40
Male
38
Female
25
Mutation
21
Intellectual Disability
19
Animals
17
Pedigree
16
Child
15
Mice
14
Phenotype
11
Adult
.
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