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Results 1-10 of 12 (Search time: 0.002 seconds).
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Issue Date
Title
Author(s)
2013
PCR amplification and sequence analysis of GC-rich sequences: Aristaless-related homeobox example
Tan, M.
;
Gecz, J.
;
Shoubridge, C.
;
Hatters, D.
;
Hannan, A.
2013
Challenges of 'sticky' co-immunoprecipitation: Polyalanine tract protein-protein interactions
Mattiske, T.
;
Tan, M.
;
Gecz, J.
;
Shoubridge, C.
;
Hatters, D.
;
Hannan, A.
2010
ARX spectrum disorders: Making inroads into the molecular pathology
Shoubridge, C.
;
Fullston, T.
;
Gecz, J.
2012
A noncoding, regulatory mutation implicates HCFC1 in nonsyndromic intellectual disability
Huang, L.
;
Jolly, L.
;
Willis-Owen, S.
;
Gardner, A.
;
Sharma, R.
;
Douglas, E.
;
Shoubridge, C.
;
Wieczorek, D.
;
Tzschach, A.
;
Cohen, M.
;
Hackett, A.
;
Field, M.
;
Froyen, G.
;
Hu, H.
;
Haas, S.
;
Ropers, H.
;
Kalscheuer, V.
;
Corbett, M.
;
Gecz, J.
2014
Reduced polyalanine-expanded Arx mutant protein in developing mouse subpallium alters Lmo1 transcriptional regulation
Lee, K.
;
Mattiske, T.
;
Kitamura, K.
;
Gecz, J.
;
Shoubridge, C.
2013
A regulatory path associated with X-linked intellectual disability and epilepsy links KDM5C to the polyalanine expansions in ARX
Poeta, L.
;
Fusco, F.
;
Drongitis, D.
;
Shoubridge, C.
;
Manganelli, G.
;
Filosa, S.
;
Paciolla, M.
;
Courtney, M.
;
Collombat, P.
;
Lioi, M.
;
Gecz, J.
;
Ursini, M.
;
Miano, M.
2012
Is there a Mendelian transmission ratio distortion of the c.429_452dup(24bp) polyalanine tract ARX mutation?
Shoubridge, C.
;
Gardner, A.
;
Schwartz, C.
;
Hackett, A.
;
Field, M.
;
Gecz, J.
2012
ARX homeodomain mutations abolish DNA binding and lead to a loss of transcriptional repression
Shoubridge, C.
;
Tan, M.
;
Seiboth, G.
;
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
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.
Discover
Author
4
Tan, M.
3
Hannan, A.
2
Field, M.
2
Fullston, T.
2
Gardner, A.
2
Hackett, A.
2
Hatters, D.
2
Kleefstra, T.
2
Mattiske, T.
2
Ropers, H.
.
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Subject
2
Male
2
Mental Retardation, X-Linked
2
Mutation
2
Transcription, Genetic
1
06 Biological Sciences
1
0604 Genetics
1
060403 Developmental Genetics (in...
1
Active Transport, Cell Nucleus
1
Amino Acid Sequence
1
Arf GTPases
.
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2010