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Issue Date
Title
Author(s)
2015
Increased STAG2 dosage defines a novel cohesinopathy with intellectual disability and behavioral problems
Kumar, R.
;
Corbett, M.
;
Van Bon, B.
;
Gardner, A.
;
Woenig, J.
;
Jolly, L.
;
Douglas, E.
;
Friend, K.
;
Tan, C.
;
Van Esch, H.
;
Holvoet, M.
;
Raynaud, M.
;
Field, M.
;
Leffler, M.
;
Budny, B.
;
Wisniewska, M.
;
Badura-Stronka, M.
;
Latos-Bieleńska, A.
;
Batanian, J.
;
Rosenfeld, J.
;
et al.
2015
Mutations in DDX3X are a common cause of unexplained intellectual disability with gender-specific effects on Wnt signaling
Snijders Blok, L.
;
Madsen, E.
;
Juusola, J.
;
Gilissen, C.
;
Baralle, D.
;
Reijnders, M.
;
Venselaar, H.
;
Helsmoortel, C.
;
Cho, M.
;
Hoischen, A.
;
Vissers, L.
;
Koemans, T.
;
Wissink-Lindhout, W.
;
Eichler, E.
;
Romano, C.
;
Van Esch, H.
;
Stumpel, C.
;
Vreeburg, M.
;
Smeets, E.
;
Oberndorff, K.
;
et al.
2007
Mutation frequencies of X-linked mental retardation genes in families from the EuroMRX Consortium
de Brouwer, A.
;
Yntema, H.
;
Kleefstra, T.
;
Lugtenberg, D.
;
Oudakker, A.
;
de Vries, B.
;
van Bokhoven, H.
;
Van Esch, H.
;
Frints, S.
;
Froyen, G.
;
Fryns, J.
;
Raynaud, M.
;
Moizard, M.
;
Ronce, N.
;
Bensalem, A.
;
Moraine, C.
;
Poirier, K.
;
Castelnau, L.
;
Saillour, Y.
;
Bienvenu, T.
;
et al.
2016
X-exome sequencing of 405 unresolved families identifies seven novel intellectual disability genes
Hu, H.
;
Haas, S.
;
Chelly, J.
;
Van Esch, H.
;
Raynaud, M.
;
De Brouwer, A.
;
Weinert, S.
;
Froyen, G.
;
Frints, S.
;
Laumonnier, F.
;
Zemojtel, T.
;
Love, M.
;
Richard, H.
;
Emde, A.
;
Bienek, M.
;
Jensen, C.
;
Hambrock, M.
;
Fischer, U.
;
Langnick, C.
;
Feldkamp, M.
;
et al.
2008
Submicroscopic duplications of the hydroxysteroid dehydrogenase HSD17B10 and the E3 ubiquitin ligase HUWE1 are associated with mental retardation
Froyen, G.
;
Corbett, M.
;
Vandewalle, J.
;
Jarvela, I.
;
Lawrence, O.
;
Meldrum, C.
;
Bauters, M.
;
Govaerts, K.
;
Vandeleur, L.
;
Van Esch, H.
;
Chelly, J.
;
Sanlaville, D.
;
van Bokhoven, H.
;
Ropers, H.
;
Laumonnier, F.
;
Ranieri, E.
;
Schwartz, C.
;
Abidi, F.
;
Tarpey, P.
;
Futreal, 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.
2011
Hybridisation-based resequencing of 17 X-linked intellectual disability genes in 135 patients reveals novel mutations in ATRX, SLC6A8 and PQBP1
Jensen, L.
;
Wei, C.
;
Moser, B.
;
Lipkowitz, B.
;
Schroeder, C.
;
Musante, L.
;
Tzschach, A.
;
Kalscheuer, V.
;
Meloni, I.
;
Raynaud, M.
;
Van Esch, H.
;
Chelly, J.
;
de Brouwer, A.
;
Hackett, A.
;
van der Haar, S.
;
Henn, W.
;
Gecz, J.
;
Riess, O.
;
Bonin, M.
;
Reinhardt, R.
;
et al.
2008
MCT8 mutation analysis and identification of the first female with Allan-Herndon-Dudley syndrome due to loss of MCT8 expression
Frints, S.
;
Lenzer, S.
;
Bauters, M.
;
Jensen, L.
;
Van Esch, H.
;
des Portes, V.
;
Moog, U.
;
Macville, M.
;
Roozendaal, K.
;
Schrander-Stumpel, C.
;
Tzschach, A.
;
Marynen, P.
;
Fryns, J.
;
Hamel, B.
;
van Bokhoven, H.
;
Chelly, J.
;
Beldjord, C.
;
Turner, G.
;
Gecz, J.
;
Moraine, C.
;
et al.
2009
Structural variation in Xq28: MECP2 duplications in 1% of patients with unexplained XLMR and in 2% of male patients with severe encephalopathy
Lugtenberg, D.
;
Kleefstra, T.
;
Oudakker, A.
;
Nillesen, W.
;
Yntema, H.
;
Tzschach, A.
;
Raynaud, M.
;
Rating, D.
;
Journel, H.
;
Chelly, J.
;
Goizet, C.
;
Lacombe, D.
;
Pedespan, J.
;
Echenne, B.
;
Tariverdian, G.
;
O'Rourke, D.
;
King, M.
;
Green, A.
;
Van Kogelenberg, M.
;
Van Esch, H.
;
et al.
2007
Functional characterization of GATA3 mutations causing the hypoparathyroidism-deafness-renal (HDR) dysplasia syndrome: insight into mechanisms of DNA binding by the GATA3 transcription factor
Ali, A.
;
Christie, P.
;
Grigorieva, I.
;
Harding, B.
;
Van Esch, H.
;
Ahmed, S.
;
Bitner-Glindzicz, M.
;
Blind, E.
;
Bloch, C.
;
Christin, P.
;
Clayton, P.
;
Gecz, J.
;
Gilbert-Dussardier, B.
;
Guillen-Navarro, E.
;
Hackett, A.
;
Halac, I.
;
Hendy, G.
;
Lalloo, F.
;
Mache, C.
;
Mughal, Z.
;
et al.
Discover
Author
6
Chelly, J.
6
Raynaud, M.
4
Gecz, J.
4
Tzschach, A.
3
Frints, S.
3
Froyen, G.
3
van Bokhoven, H.
2
Bauters, M.
2
Corbett, M.
2
de Brouwer, A.
.
next >
Subject
7
Humans
5
Male
4
Mental Retardation, X-Linked
4
Mutation
3
Base Sequence
3
DNA Mutational Analysis
3
Female
3
Molecular Sequence Data
3
Pedigree
2
Adolescent
.
next >
Date issued
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2016
2
2015
1
2011
1
2010
1
2009
2
2008
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2007