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Issue Date
Title
Author(s)
2010
Mutations in the nuclear localization sequence of the Aristaless related homeobox; Sequestration of mutant ARX with IPO13 disrupts normal subcellular distribution of the transcription factor and retards cell division
Shoubridge, C.
;
Tan, M.
;
Fullston, T.
;
Cloosterman, D.
;
Coman, D.
;
McGillivray, G.
;
Mancini, G.
;
Kleefstra, T.
;
Gecz, J.
2010
A distinctive gene expression fingerprint in mentally retarded male patients reflects disease-causing defects in the histone demethylase KDM5C
Jensen, L.
;
Bartenschlager, H.
;
Rujirabanjerd, S.
;
Tzschach, A.
;
Numann, A.
;
Janecke, A.
;
Sporle, R.
;
Stricker, S.
;
Raynaud, M.
;
Nelson, J.
;
Hackett, A.
;
Fryns, J.
;
Chelly, J.
;
de Brouwer, A.
;
Hamel, B.
;
Gecz, J.
;
Ropers, H.
;
Kuss, A.
2014
Mutations in USP9X are associated with X-linked intellectual disability and disrupt neuronal cell migration and growth
Homan, C.
;
Kumar, R.
;
Nguyen, L.
;
Haan, E.
;
Raymond, F.
;
Abidi, F.
;
Raynaud, M.
;
Schwartz, C.
;
Wood, S.
;
Gecz, J.
;
Jolly, L.
2013
CCDC22 deficiency in humans blunts activation of proinfammatory NF-KappaB signaling
Starokadomskyy, P.
;
Gluck, N.
;
Li, H.
;
Chen, B.
;
Wallis, M.
;
Maine, G.
;
Mao, X.
;
Zaidi, I.
;
Hein, M.
;
McDonald, F.
;
Lenzner, S.
;
Zecha, A.
;
Ropers, H.
;
Kuss, A.
;
McGaughran, J.
;
Gecz, J.
;
Burstein, E.
2005
Rett syndrome: clinical review and genetic update
Weaving, L.
;
Ellaway, C.
;
Gecz, J.
;
Christodoulou, J.
2002
Abnormal expression of the KLF8 (ZNF741) gene in a female patient with an X;autosome translocation t(X;21)(p11.2;q22.3) and non-syndromic mental retardation
Lossi, A.
;
Laugier-Anfossi, F.
;
Depetris, D.
;
Gecz, J.
;
Gedeon, A.
;
Kooy, F.
;
Schwartz, C.
;
Mattei, M.
;
Croquette, M.
;
Villard, L.
2006
Mutation screening in Borjeson-Forssman-Lehmann syndrome: identification of a novel de novo PHF6 mutation in a female patient
Crawford, J.
;
Lower, K.
;
Hennekam, R.
;
Van Esch, H.
;
Megarbane, A.
;
Lynch, S.
;
Turner, G.
;
Gecz, J.
2010
Epilepsy and mental retardation limited to females with PCDH19 mutations can present de novo or in single generation families
Hynes, K.
;
Tarpey, P.
;
Dibbens, L.
;
Bayly, M.
;
Berkovic, S.
;
Smith, R.
;
Al Raisi, Z.
;
Turner, S.
;
Brown, N.
;
Desai, T.
;
Haan, E.
;
Turner, G.
;
Christodoulou, J.
;
Leonard, H.
;
Gill, D.
;
Stratton, M.
;
Gecz, J.
;
Scheffer, I.
2002
Evolution of the human X - a smart and sexy chromosome that controls speciation and development
Graves, J.
;
Gecz, J.
;
Hameister, H.
2003
Novel PHF6 mutation p.D333del causes Borjeson-Forssman-Lehmann syndrome
Baumstark, A.
;
Lower, K.
;
Sinkus, A.
;
Andriuskeveviciute, I.
;
Jurkeniene, L.
;
Gecz, J.
;
Just, W.
Discover
Author
17
Shoubridge, C.
15
Ropers, H.
15
Turner, G.
14
Chelly, J.
14
et al.
14
Kalscheuer, V.
13
Fryns, J.
13
Haan, E.
13
Schwartz, C.
13
Shaw, M.
.
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Subject
87
Humans
52
Male
47
Mutation
42
Female
28
Intellectual Disability
28
Pedigree
26
Animals
26
Molecular Sequence Data
22
Chromosomes, Human, X
21
Transcription Factors
.
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Date issued
2
2020 - 2023
60
2010 - 2019
67
2000 - 2009
5
1997 - 1999