Medizinische Universität Graz Austria/Österreich - Forschungsportal - Medical University of Graz
Publikationen
Suchbegriffe: INTELLECTUAL DISABILITY - PHYSIOPATHOLOGY , . Treffer: 4
2019
Begemann, A; Acuña, MA; Zweier, M; Vincent, M; Steindl, K; Bachmann-Gagescu, R; Hackenberg, A; Abela, L; Plecko, B; Kroell-Seger, J; Baumer, A; Yamakawa, K; Inoue, Y; Asadollahi, R; Sticht, H; Zeilhofer, HU; Rauch, A
Further corroboration of distinct functional features in SCN2A variants causing intellectual disability or epileptic phenotypes.
MOL MED. 2019; 25(1): 6-6.
Doi: 10.1186/s10020-019-0073-6
[OPEN ACCESS]
Web of Science
PubMed
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2017
Khan, MA; Windpassinger, C; Ali, MZ; Zubair, M; Gul, H; Abbas, S; Khan, S; Badar, M; Mohammad, RM; Nawaz, Z
Molecular genetic analysis of consanguineous families with primary microcephaly identified pathogenic variants in the ASPM gene.
J Genet. 2017; 96(2):383-387
Doi: 10.1007/s12041-017-0759-x
[OPEN ACCESS]
Web of Science
PubMed
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2014
Bernkopf, M; Webersinke, G; Tongsook, C; Koyani, CN; Rafiq, MA; Ayaz, M; Müller, D; Enzinger, C; Aslam, M; Naeem, F; Schmidt, K; Gruber, K; Speicher, MR; Malle, E; Macheroux, P; Ayub, M; Vincent, JB; Windpassinger, C; Duba, HC
Disruption of the methyltransferase-like 23 gene METTL23 causes mild autosomal recessive intellectual disability.
Hum Mol Genet. 2014; 23(15):4015-4023
Doi: 10.1093/hmg/ddu115
[OPEN ACCESS]
Web of Science
PubMed
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2012
Khan, MA; Rafiq, MA; Noor, A; Hussain, S; Flores, JV; Rupp, V; Vincent, AK; Malli, R; Ali, G; Khan, FS; Ishak, GE; Doherty, D; Weksberg, R; Ayub, M; Windpassinger, C; Ibrahim, S; Frye, M; Ansar, M; Vincent, JB
Mutation in NSUN2, which encodes an RNA methyltransferase, causes autosomal-recessive intellectual disability.
Am J Hum Genet. 2012; 90(5):856-863
Doi: 10.1016/j.ajhg.2012.03.023
[OPEN ACCESS]
Web of Science
PubMed
FullText
FullText_MUG