Medizinische Universität Graz Austria/Österreich - Forschungsportal - Medical University of Graz

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Publikationen

Suchbegriffe: MICROCEPHALY - GENETICS , . Treffer: 7

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 [OPEN ACCESS]
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2016

D'Angelo, D; Lebon, S; Chen, Q; Martin-Brevet, S; Snyder, LG; Hippolyte, L; Hanson, E; Maillard, AM; Faucett, WA; Macé, A; Pain, A; Bernier, R; Chawner, SJ; David, A; Andrieux, J; Aylward, E; Baujat, G; Caldeira, I; Conus, P; Ferrari, C; Forzano, F; Gérard, M; Goin-Kochel, RP; Grant, E; Hunter, JV; Isidor, B; Jacquette, A; Jønch, AE; Keren, B; Lacombe, D; Le Caignec, C; Martin, CL; Männik, K; Metspalu, A; Mignot, C; Mukherjee, P; Owen, MJ; Passeggeri, M; Rooryck-Thambo, C; Rosenfeld, JA; Spence, SJ; Steinman, KJ; Tjernagel, J; Van Haelst, M; Shen, Y; Draganski, B; Sherr, EH; Ledbetter, DH; van den Bree, MB; Beckmann, JS; Spiro, JE; Reymond, A; Jacquemont, S; Chung, WK; Cardiff University Experiences of Children With Copy Number Variants (ECHO) Study; 16p11.2 European Consortium; Simons Variation in Individuals Project (VIP) Consortium Defining the Effect of the 16p11.2 Duplication on Cognition, Behavior, and Medical Comorbidities.
JAMA Psychiatry. 2016; 73(1): 20-30. [OPEN ACCESS]
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2014

Khan, MA; Rupp, VM; Orpinell, M; Hussain, MS; Altmüller, J; Steinmetz, MO; Enzinger, C; Thiele, H; Höhne, W; Nürnberg, G; Baig, SM; Ansar, M; Nürnberg, P; Vincent, JB; Speicher, MR; Gönczy, P; Windpassinger, C A missense mutation in the PISA domain of HsSAS-6 causes autosomal recessive primary microcephaly in a large consanguineous Pakistani family.
Hum Mol Genet. 2014; 23(22):5940-5949 [OPEN ACCESS]
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Rupp, V; Rauf, S; Naveed, I; Windpassinger, C; Mir, A A novel single base pair duplication in WDR62 causes primary microcephaly.
BMC Med Genet. 2014; 15(10):107-107 (- Case Report) [OPEN ACCESS]
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2011

Bhat, V; Girimaji, SC; Mohan, G; Arvinda, HR; Singhmar, P; Duvvari, MR; Kumar, A Mutations in WDR62, encoding a centrosomal and nuclear protein, in Indian primary microcephaly families with cortical malformations.
Clin Genet. 2011; 80(6): 532-540.
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2006

Borenstein, M; Dagklis, T; Csapo, B; Sotiriadis, A; Nicolaides, KH Brachycephaly and frontal lobe hypoplasia in fetuses with trisomy 21 at 11 + 0 to 13 + 6 weeks.
Ultrasound Obstet Gynecol. 2006; 28(7):870-875 [OPEN ACCESS]
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2000

Emberger, W; Petek, E; Plecko-Starting, B; Kroisel, PM; Zierler, H; Wagner, K A de novo complex chromosomal rearrangement involving chromosomes 2, 3, and 10 associated with microcephaly and early onset spasticity.
J Med Genet. 2000; 37(11):892-896 (- Case Report) [OPEN ACCESS]
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