Medizinische Universität Graz Austria/Österreich - Forschungsportal - Medical University of Graz
Publikationen
Suchbegriffe: CONSANGUINITY - , . Treffer: 12
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
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Kröner, C; Wittmann, T; Reu, S; Teusch, V; Klemme, M; Rauch, D; Hengst, M; Kappler, M; Cobanoglu, N; Sismanlar, T; Aslan, AT; Campo, I; Proesmans, M; Schaible, T; Terheggen-Lagro, S; Regamey, N; Eber, E; Seidenberg, J; Schwerk, N; Aslanidis, C; Lohse, P; Brasch, F; Zarbock, R; Griese, M
Lung disease caused by ABCA3 mutations.
Thorax. 2017; 72(3):213-220
Doi: 10.1136/thoraxjnl-2016-208649
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Plecko, B; Zweier, M; Begemann, A; Mathis, D; Schmitt, B; Striano, P; Baethmann, M; Vari, MS; Beccaria, F; Zara, F; Crowther, LM; Joset, P; Sticht, H; Papuc, SM; Rauch, A
Confirmation of mutations in PROSC as a novel cause of vitamin B 6 -dependent epilepsy.
J Med Genet. 2017; 54(12): 809-814.
Doi: 10.1136/jmedgenet-2017-104521
(- Case Report)
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2016
Khan, MA; Mohan, S; Zubair, M; Windpassinger, C
Homozygosity mapping identified a novel protein truncating mutation (p.Ser100Leufs*24) of the BBS9 gene in a consanguineous Pakistani family with Bardet Biedl syndrome.
BMC Med Genet. 2016; 17(6): 10-10.
Doi: 10.1186/s12881-016-0271-9
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2015
Seidel, MG; Hirschmugl, T; Gamez-Diaz, L; Schwinger, W; Serwas, N; Deutschmann, A; Gorkiewicz, G; Zenz, W; Windpassinger, C; Grimbacher, B; Urban, C; Boztug, K
Long-term remission after allogeneic hematopoietic stem cell transplantation in LPS-responsive beige-like anchor (LRBA) deficiency.
J Allergy Clin Immunol. 2015; 135(5):1384-90.e1-1384-90.e8
Doi: 10.1016/j.jaci.2014.10.048
(- Case Report)
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Turley, AJ; Gathmann, B; Bangs, C; Bradbury, M; Seneviratne, S; Gonzalez-Granado, LI; Hackett, S; Kutukculer, N; Alachkar, H; Hambleton, S; Ritterbusch, H; Kralickova, P; Marodi, L; Seidel, MG; Dueckers, G; Roesler, J; Huissoon, A; Baxendale, H; Litzman, J; Arkwright, PD
Spectrum and management of complement immunodeficiencies (excluding hereditary angioedema) across Europe.
J Clin Immunol. 2015; 35(2):199-205
Doi: 10.1007/s10875-015-0137-5
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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
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Khan, MA; Rupp, V; Khan, MA; Khan, MP; Ansar, M; Windpassinger, C
Genetic analysis of a consanguineous Pakistani family with Leber congenital amaurosis identifies a novel mutation in GUCY2D gene.
J Genet. 2014; 93(2):527-530
Doi: 10.1007/s12041-014-0394-8
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2013
Cullup, T; Kho, AL; Dionisi-Vici, C; Brandmeier, B; Smith, F; Urry, Z; Simpson, MA; Yau, S; Bertini, E; McClelland, V; Al-Owain, M; Koelker, S; Koerner, C; Hoffmann, GF; Wijburg, FA; ten Hoedt, AE; Rogers, RC; Manchester, D; Miyata, R; Hayashi, M; Said, E; Soler, D; Kroisel, PM; Windpassinger, C; Filloux, FM; Al-Kaabi, S; Hertecant, J; Del Campo, M; Buk, S; Bodi, I; Goebel, HH; Sewry, CA; Abbs, S; Mohammed, S; Josifova, D; Gautel, M; Jungbluth, H;
Recessive mutations in EPG5 cause Vici syndrome, a multisystem disorder with defective autophagy.
Nat Genet. 2013; 45(1):83-87
Doi: 10.1038/ng.2497
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2010
Papić, L; Fischer, D; Trajanoski, S; Höftberger, R; Fischer, C; Ströbel, T; Schmidt, WM; Bittner, RE; Schabhüttl, M; Gruber, K; Pieber, TR; Janecke, AR; Auer-Grumbach, M
SNP-array based whole genome homozygosity mapping: a quick and powerful tool to achieve an accurate diagnosis in LGMD2 patients.
Eur J Med Genet. 2010; 54(3):214-219
Doi: 10.1016/j.ejmg.2010.12.003
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2009
Noor, A; Windpassinger, C; Vitcu, I; Orlic, M; Arshad Rafiq, M; Khalid, M; Nasir Malik, M; Ayub, M; Alman, B; Vincent, JB
Oligodontia is caused by mutation in LTBP3, the gene encoding latent TGF-beta binding protein 3.
Am J Hum Genet. 2009; 84(4): 519-523.
Doi: 10.1016/j.ajhg.2009.03.007
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2008
Noor, A; Windpassinger, C; Patel, M; Stachowiak, B; Mikhailov, A; Azam, M; Irfan, M; Siddiqui, ZK; Naeem, F; Paterson, AD; Lutfullah, M; Vincent, JB; Ayub, M
CC2D2A, encoding a coiled-coil and C2 domain protein, causes autosomal-recessive mental retardation with retinitis pigmentosa.
Am J Hum Genet. 2008; 82(4):1011-1018
Doi: 10.1016/j.ajhg.2008.01.021
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