Medizinische Universität Graz Austria/Österreich - Forschungsportal - Medical University of Graz
Publikationen
Suchbegriffe: MICROCEPHALY - GENETICS , . Treffer: 9
2022
Hussain, S; Nawaz, A; Hamid, M; Ullah, W; Khan, IN; Afshan, M; Rehman, A; Nawaz, H; Halswick, J; Rehman, SU; Ahmad, S; Muzammal, M; Muhammad, N; Jan, A; Khan, S; Windpassinger, C; Khan, MA
Mutation screening of multiple Pakistani MCPH families revealed novel and recurrent protein-truncating mutations of ASPM.
Biotechnol Appl Biochem. 2022; 69(6):2296-2303
Doi: 10.1002/bab.2286
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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]
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Smolle, MA; Heitzer, E; Geigl, JB; Al, Kaissi, A; Liegl-Atzwanger, B; Seidel, MG; Holzer, LA; Leithner, A
A novel mutation in ATRX associated with intellectual disability, syndromic features, and osteosarcoma.
Pediatr Blood Cancer. 2017; 64(10):
Doi: 10.1002/pbc.26522
(- Case Report)
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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.
Doi: 10.1001/jamapsychiatry.2015.2123
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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
Doi: 10.1093/hmg/ddu318
[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
Doi: 10.1186/s12881-014-0107-4
(- Case Report)
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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.
Doi: 10.1111/j.1399-0004.2011.01686.x
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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
Doi: 10.1002/uog.3858
[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
Doi: 10.1136/jmg.37.11.892
(- Case Report)
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