G
Gabor Matyas
Researcher at University of Zurich
Publications - 67
Citations - 3529
Gabor Matyas is an academic researcher from University of Zurich. The author has contributed to research in topics: Marfan syndrome & Aortic dissection. The author has an hindex of 27, co-authored 67 publications receiving 3199 citations. Previous affiliations of Gabor Matyas include University of Bern & Boston Children's Hospital.
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Journal ArticleDOI
Identification of refugia and post-glacial colonisation routes of European white oaks based on chloroplast DNA and fossil pollen evidence
Rémy J. Petit,Simon Brewer,Sándor Bordács,Kornel Burg,Rachid Cheddadi,Els Coart,Joan Cottrell,Ulrike M Csaikl,Barbara van Dam,John D Deans,S. Espinel,Silvia Fineschi,Reiner Finkeldey,Izabela Glaz,Izabela Glaz,Pablo G. Goicoechea,Jan Svejgaard Jensen,Armin O. König,Andrew J. Lowe,Søren Flemming Madsen,Gabor Matyas,R.C. Munro,Flaviu Popescu,Danko Slade,Danko Slade,H.E. Tabbener,Sven G.M de Vries,Birgit Ziegenhagen,Jacques-Louis de Beaulieu,Antoine Kremer +29 more
TL;DR: Drawing conclusions on the location of glacial period refugia and the colonisation routes derived from molecular information and fossil pollen data appear to be both largely compatible and complementary.
Journal ArticleDOI
Update of the UMD-FBN1 mutation database and creation of an FBN1 polymorphism database.
Gwenaëlle Collod-Béroud,Saga Le Bourdelles,Lesley C. Adès,Lesley C. Adès,Leena Ala-Kokko,Leena Ala-Kokko,Patrick Booms,Maureen Boxer,Anne H. Child,P Comeglio,Anne De Paepe,James C. Hyland,Katerine Holman,Ilkka Kaitila,Bart Loeys,Gabor Matyas,L Nuytinck,Leena Peltonen,Terhi Rantamäki,Peter N. Robinson,Beat Steinmann,Claudine Junien,Christophe Béroud,Catherine Boileau +23 more
TL;DR: The FBN1 mutation database has recently been modified to follow the guidelines on mutation databases of the HUGO Mutation Database Initiative (MDI) and the Human Genome Variation Society (HGVS), including their approved mutation nomenclature.
Journal ArticleDOI
Clinical sequencing: is WGS the better WES?
TL;DR: WES is the better WES so that capturing is no longer necessary for the most comprehensive genomic testing of Mendelian disorders, and WGS is the best WES from a clinical/technical point of view.
Journal ArticleDOI
Phenotypic spectrum of the SMAD3-related aneurysms–osteoarthritis syndrome
Ingrid M.B.H. van de Laar,Denise van der Linde,Edwin H.G. Oei,Pieter K. Bos,Johannes H.J.M. Bessems,Sita M A Bierma-Zeinstra,Belle L. van Meer,Gerard Pals,Rogier A. Oldenburg,Jos A. Bekkers,Adriaan Moelker,Bianca M. de Graaf,Gabor Matyas,Ingrid M.E. Frohn-Mulder,Janneke Timmermans,Yvonne Hilhorst-Hofstee,Jan Maarten Cobben,Hennie T. Brüggenwirth,Lut Van Laer,Bart Loeys,Julie De Backer,Paul Coucke,Harry C. Dietz,Patrick Willems,Ben A. Oostra,Anne De Paepe,Jolien W. Roos-Hesselink,Aida M. Bertoli-Avella,Marja W. Wessels +28 more
TL;DR: In the majority of patients, early-onset joint abnormalities, including osteoarthritis and osteochondritis dissecans, were the initial symptom for which medical advice was sought, and involved mainly aortic aneurysms and dissections.
Journal ArticleDOI
Mutations in CABP4, the gene encoding the Ca2+-binding protein 4, cause autosomal recessive night blindness.
Christina Zeitz,Barbara Kloeckener-Gruissem,Ursula Forster,Susanne Kohl,István Magyar,Bernd Wissinger,Gabor Matyas,François-Xavier Borruat,Daniel F. Schorderet,Eberhart Zrenner,Francis L. Munier,Wolfgang Berger +11 more
TL;DR: It is reported for the first time that mutations in CABP4 lead to autosomal recessive CSNB, and it is suggested that the reduced amount of CABp4 is the reason for the signaling defect in these patients.