Medizinische Universität Graz Austria/Österreich - Forschungsportal - Medical University of Graz
Publikationen
Suchbegriffe: GENES, RECESSIVE - , . Treffer: 13
2016
Khan, MA; Khan, S; Windpassinger, C; Badar, M; Nawaz, Z; Mohammad, RM
The Molecular Genetics of Autosomal Recessive Nonsyndromic Intellectual Disability: a Mutational Continuum and Future Recommendations.
Ann Hum Genet. 2016; 80(6):342-368
Doi: 10.1111/ahg.12176
[OPEN ACCESS]
Web of Science
PubMed
FullText
FullText_MUG
2015
Heidari, A; Tongsook, C; Najafipour, R; Musante, L; Vasli, N; Garshasbi, M; Hu, H; Mittal, K; McNaughton, AJ; Sritharan, K; Hudson, M; Stehr, H; Talebi, S; Moradi, M; Darvish, H; Arshad Rafiq, M; Mozhdehipanah, H; Rashidinejad, A; Samiei, S; Ghadami, M; Windpassinger, C; Gillessen-Kaesbach, G; Tzschach, A; Ahmed, I; Mikhailov, A; Stavropoulos, DJ; Carter, MT; Keshavarz, S; Ayub, M; Najmabadi, H; Liu, X; Ropers, HH; Macheroux, P; Vincent, JB
Mutations in the histamine N-methyltransferase gene, HNMT, are associated with nonsyndromic autosomal recessive intellectual disability.
Hum Mol Genet. 2015; 24(20):5697-5710
Doi: 10.1093/hmg/ddv286
(- Case Report)
[OPEN ACCESS]
Web of Science
PubMed
FullText
FullText_MUG
Rafiq, MA; Leblond, CS; Saqib, MA; Vincent, AK; Ambalavanan, A; Khan, FS; Ayaz, M; Shaheen, N; Spiegelman, D; Ali, G; Amin-ud-Din, M; Laurent, S; Mahmood, H; Christian, M; Ali, N; Fennell, A; Nanjiani, Z; Egger, G; Caron, C; Waqas, A; Ayub, M; Rasheed, S; Forgeot d'Arc, B; Johnson, A; So, J; Brohi, MQ; Mottron, L; Ansar, M; Vincent, JB; Xiong, L
Novel VPS13B Mutations in Three Large Pakistani Cohen Syndrome Families Suggests a Baloch Variant with Autistic-Like Features.
BMC Med Genet. 2015; 16(7):41-41
Doi: 10.1186/s12881-015-0183-0
(- Case Report)
[OPEN ACCESS]
Web of Science
PubMed
FullText
FullText_MUG
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
FullText
FullText_MUG
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
[OPEN ACCESS]
Web of Science
PubMed
FullText
FullText_MUG
Gordon, CT; Petit, F; Kroisel, PM; Jakobsen, L; Zechi-Ceide, RM; Oufadem, M; Bole-Feysot, C; Pruvost, S; Masson, C; Tores, F; Hieu, T; Nitschké, P; Lindholm, P; Pellerin, P; Guion-Almeida, ML; Kokitsu-Nakata, NM; Vendramini-Pittoli, S; Munnich, A; Lyonnet, S; Holder-Espinasse, M; Amiel, J
Mutations in endothelin 1 cause recessive auriculocondylar syndrome and dominant isolated question-mark ears.
Am J Hum Genet. 2013; 93(6):1118-1125
Doi: 10.1016/j.ajhg.2013.10.023
(- Case Report)
[OPEN ACCESS]
Web of Science
PubMed
FullText
FullText_MUG
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
Klein, A; Lillis, S; Munteanu, I; Scoto, M; Zhou, H; Quinlivan, R; Straub, V; Manzur, AY; Roper, H; Jeannet, PY; Rakowicz, W; Jones, DH; Jensen, UB; Wraige, E; Trump, N; Schara, U; Lochmuller, H; Sarkozy, A; Kingston, H; Norwood, F; Damian, M; Kirschner, J; Longman, C; Roberts, M; Auer-Grumbach, M; Hughes, I; Bushby, K; Sewry, C; Robb, S; Abbs, S; Jungbluth, H; Muntoni, F
Clinical and genetic findings in a large cohort of patients with ryanodine receptor 1 gene-associated myopathies.
HUM MUTAT. 2012; 33(6): 981-988.
Doi: 10.1002/humu.22056
Web of Science
PubMed
FullText
FullText_MUG
Zimon, M; Baets, J; Almeida-Souza, L; De Vriendt, E; Nikodinovic, J; Parman, Y; Battaloglu, E; Matur, Z; Guergueltcheva, V; Tournev, I; Auer-Grumbach, M; De Rijk, P; Petersen, BS; Muller, T; Fransen, E; Van Damme, P; Loscher, WN; Barisic, N; Mitrovic, Z; Previtali, SC; Topaloglu, H; Bernert, G; Beleza-Meireles, A; Todorovic, S; Savic-Pavicevic, D; Ishpekova, B; Lechner, S; Peeters, K; Ooms, T; Hahn, AF; Zuchner, S; Timmerman, V; Van Dijck, P; Rasic, VM; Janecke, AR; De Jonghe, P; Jordanova, A;
Loss-of-function mutations in HINT1 cause axonal neuropathy with neuromyotonia.
NAT GENET. 2012; 44(10): 1080-1083.
Doi: 10.1038/ng.2406
Web of Science
PubMed
FullText
FullText_MUG
2009
Eckl, KM; de Juanes, S; Kurtenbach, J; Nätebus, M; Lugassy, J; Oji, V; Traupe, H; Preil, ML; Martínez, F; Smolle, J; Harel, A; Krieg, P; Sprecher, E; Hennies, HC
Molecular analysis of 250 patients with autosomal recessive congenital ichthyosis: evidence for mutation hotspots in ALOXE3 and allelic heterogeneity in ALOX12B.
J Invest Dermatol. 2009; 129(6):1421-1428
Doi: 10.1038/jid.2008.409
[OPEN ACCESS]
Web of Science
PubMed
FullText
FullText_MUG
Google Scholar
2008
Noor, A; Windpassinger, C; Patel, M; Stachowiak, B; Mikhailov, A; Azam, M; Irfan, M; Paterson, AD; Lutufullah, M; Doherty, D; Vincent, JB; Ayub, M
Addendum. CC2D2A, encoding a coiled-coil and C2 domain protein, causes autosomal-recessive mental retardation with retinitis pigmentosa.
Am J Hum Genet. 2008; 83(5): 656-656.
Doi: 10.1016/j.ajhg.2008.10.005
[OPEN ACCESS]
Web of Science
PubMed
FullText
FullText_MUG
Windpassinger, C; Schoser, B; Straub, V; Hochmeister, S; Noor, A; Lohberger, B; Farra, N; Petek, E; Schwarzbraun, T; Ofner, L; Löscher, WN; Wagner, K; Lochmüller, H; Vincent, JB; Quasthoff, S
An X-linked myopathy with postural muscle atrophy and generalized hypertrophy, termed XMPMA, is caused by mutations in FHL1.
Am J Hum Genet. 2008; 82(1): 88-99.
Doi: 10.1016/j.ajhg.2007.09.004
[OPEN ACCESS]
Web of Science
PubMed
FullText
FullText_MUG
2007
Schmidt, WM; Kraus, C; Hoger, H; Hochmeister, S; Oberndorfer, F; Branka, M; Bingemann, S; Lassmann, H; Mueller, M; Macedo-Souza, LI; Vainzof, M; Zatz, M; Reis, A; Bittner, RE
Mutation in the Scyl1 gene encoding amino-terminal kinase-like protein causes a recessive form of spinocerebellar neurodegeneration.
EMBO REP. 2007; 8(7): 691-697.
Doi: 10.1038/sj.embor.7401001
[OPEN ACCESS]
Web of Science
PubMed
FullText
FullText_MUG