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Acute aortic dissection determines the fate of initially untreated aortic segments in Marfan syndrome. [electronic resource] by
- Schoenhoff, Florian S
- Jungi, Silvan
- Czerny, Martin
- Roost, Eva
- Reineke, David
- Matyas, Gabor
- Steinmann, Beat
- Schmidli, Juerg
- Kadner, Alexander
- Carrel, Thierry
Producer: 20130625
In:
Circulation vol. 127
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22.
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Recurrent spontaneous coronary dissections in a patient with a de novo fibrillin-1 mutation without Marfan syndrome. [electronic resource] by
- von Hundelshausen, Philipp
- Oexle, Konrad
- Bidzhekov, Kiril
- Schmitt, Martin M
- Hristov, Michael
- Blanchet, Xavier
- Kaemmerer, Harald
- Matyas, Gabor
- Meitinger, Thomas
- Weber, Christian
Producer: 20160104
In:
Thrombosis and haemostasis vol. 113
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Diagnostic power of aortic elastic properties in young patients with Marfan syndrome. [electronic resource] by
- Baumgartner, Daniela
- Baumgartner, Christian
- Mátyás, Gabor
- Steinmann, Beat
- Löffler-Ragg, Judith
- Schermer, Elisabeth
- Schweigmann, Ulrich
- Baldissera, Ivo
- Frischhut, Bernhard
- Hess, John
- Hammerer, Ignaz
Producer: 20050519
In:
The Journal of thoracic and cardiovascular surgery vol. 129
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Proteomic analysis in aortic media of patients with Marfan syndrome reveals increased activity of calpain 2 in aortic aneurysms. [electronic resource] by
- Pilop, Christiane
- Aregger, Fabienne
- Gorman, Robert C
- Brunisholz, Rene
- Gerrits, Bertran
- Schaffner, Thomas
- Gorman, Joseph H
- Matyas, Gabor
- Carrel, Thierry
- Frey, Brigitte M
Producer: 20091008
In:
Circulation vol. 120
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Quantitative sequence analysis of FBN1 premature termination codons provides evidence for incomplete NMD in leukocytes. [electronic resource] by
- Magyar, István
- Colman, Dvora
- Arnold, Eliane
- Baumgartner, Daniela
- Bottani, Armand
- Fokstuen, Siv
- Addor, Marie-Claude
- Berger, Wolfgang
- Carrel, Thierry
- Steinmann, Beat
- Mátyás, Gábor
Producer: 20091117
In:
Human mutation vol. 30
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Glutathione S-transferase genotypes modify lung function decline in the general population: SAPALDIA cohort study. [electronic resource] by
- Imboden, Medea
- Downs, Sara H
- Senn, Oliver
- Matyas, Gabor
- Brändli, Otto
- Russi, Erich W
- Schindler, Christian
- Ackermann-Liebrich, Ursula
- Berger, Wolfgang
- Probst-Hensch, Nicole M
Producer: 20070221
In:
Respiratory research vol. 8
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New insights into the performance of human whole-exome capture platforms. [electronic resource] by
- Meienberg, Janine
- Zerjavic, Katja
- Keller, Irene
- Okoniewski, Michal
- Patrignani, Andrea
- Ludin, Katja
- Xu, Zhenyu
- Steinmann, Beat
- Carrel, Thierry
- Röthlisberger, Benno
- Schlapbach, Ralph
- Bruggmann, Rémy
- Matyas, Gabor
Producer: 20150914
In:
Nucleic acids research vol. 43
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Marfan syndrome and related connective tissue disorders in the current era in Switzerland in 103 patients: medical and surgical management and impact of genetic testing. [electronic resource] by
- Bombardieri, Elisa
- Rohrbach, Marianne
- Greutmann, Matthias
- Matyas, Gabor
- Weber, Roland
- Radulovic, Jovana
- Fasnacht Boillat, Margrit
- Linka, André
- De Pasquale, Gabriela
- Bonassin, Francesca
- Attenhofer Jost, Christine H
Producer: 20210818
In:
Swiss medical weekly vol. 150
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Barth syndrome in a female patient. [electronic resource] by
- Cosson, Laure
- Toutain, Annick
- Simard, Gilles
- Kulik, Willem
- Matyas, Gabor
- Guichet, Agnès
- Blasco, Hélène
- Maakaroun-Vermesse, Zoha
- Vaillant, Marie-Catherine
- Le Caignec, Cédric
- Chantepie, Alain
- Labarthe, François
Producer: 20120925
In:
Molecular genetics and metabolism vol. 106
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31.
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Mutations in CABP4, the gene encoding the Ca2+-binding protein 4, cause autosomal recessive night blindness. [electronic resource] by
- Zeitz, Christina
- Kloeckener-Gruissem, Barbara
- Forster, Ursula
- Kohl, Susanne
- Magyar, István
- Wissinger, Bernd
- Mátyás, Gábor
- Borruat, François-Xavier
- Schorderet, Daniel F
- Zrenner, Eberhart
- Munier, Francis L
- Berger, Wolfgang
Producer: 20061031
In:
American journal of human genetics vol. 79
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32.
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Gene polymorphisms as risk factors for predicting the cardiovascular manifestations in Marfan syndrome. Role of folic acid metabolism enzyme gene polymorphisms in Marfan syndrome. [electronic resource] by
- Benke, Kálmán
- Ágg, Bence
- Mátyás, Gábor
- Szokolai, Viola
- Harsányi, Gergely
- Szilveszter, Bálint
- Odler, Balázs
- Pólos, Miklós
- Maurovich-Horvat, Pál
- Radovits, Tamás
- Merkely, Béla
- Nagy, Zsolt B
- Szabolcs, Zoltán
Producer: 20160712
In:
Thrombosis and haemostasis vol. 114
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33.
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Hungarian Marfan family with large [electronic resource] by
- Benke, Kálmán
- Ágg, Bence
- Meienberg, Janine
- Kopps, Anna M
- Fattorini, Nathalie
- Stengl, Roland
- Daradics, Noémi
- Pólos, Miklós
- Bors, András
- Radovits, Tamás
- Merkely, Béla
- De Backer, Julie
- Szabolcs, Zoltán
- Mátyás, Gábor
Publication details: Journal of thoracic disease Apr 2018
In:
Journal of thoracic disease vol. 10
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34.
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Mutations in GRM6 cause autosomal recessive congenital stationary night blindness with a distinctive scotopic 15-Hz flicker electroretinogram. [electronic resource] by
- Zeitz, Christina
- van Genderen, Maria
- Neidhardt, John
- Luhmann, Ulrich F O
- Hoeben, Frank
- Forster, Ursula
- Wycisk, Katharina
- Mátyás, Gábor
- Hoyng, Carel B
- Riemslag, Frans
- Meire, Françoise
- Cremers, Frans P M
- Berger, Wolfgang
Producer: 20051221
In:
Investigative ophthalmology & visual science vol. 46
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35.
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Hemizygous deletion of COL3A1, COL5A2, and MSTN causes a complex phenotype with aortic dissection: a lesson for and from true haploinsufficiency. [electronic resource] by
- Meienberg, Janine
- Rohrbach, Marianne
- Neuenschwander, Stefan
- Spanaus, Katharina
- Giunta, Cecilia
- Alonso, Sira
- Arnold, Eliane
- Henggeler, Caroline
- Regenass, Stephan
- Patrignani, Andrea
- Azzarello-Burri, Silvia
- Steiner, Bernhard
- Nygren, Anders O H
- Carrel, Thierry
- Steinmann, Beat
- Mátyás, Gábor
Producer: 20110228
In:
European journal of human genetics : EJHG vol. 18
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Celiprolol but not losartan improves the biomechanical integrity of the aorta in a mouse model of vascular Ehlers-Danlos syndrome. [electronic resource] by
- Dubacher, Nicolo
- Münger, Justyna
- Gorosabel, Maria C
- Crabb, Jessica
- Ksiazek, Agnieszka A
- Caspar, Sylvan M
- Bakker, Erik N T P
- van Bavel, Ed
- Ziegler, Urs
- Carrel, Thierry
- Steinmann, Beat
- Zeisberger, Steffen
- Meienberg, Janine
- Matyas, Gabor
Producer: 20200911
In:
Cardiovascular research vol. 116
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37.
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Update of the UMD-FBN1 mutation database and creation of an FBN1 polymorphism database. [electronic resource] by
- Collod-Béroud, Gwenaëlle
- Le Bourdelles, Saga
- Ades, Lesley
- Ala-Kokko, Leena
- Booms, Patrick
- Boxer, Maureen
- Child, Anne
- Comeglio, Paolo
- De Paepe, Anne
- Hyland, James C
- Holman, Katerine
- Kaitila, Ilkka
- Loeys, Bart
- Matyas, Gabor
- Nuytinck, Lieve
- Peltonen, Leena
- Rantamaki, Terhi
- Robinson, Peter
- Steinmann, Beat
- Junien, Claudine
- Béroud, Christophe
- Boileau, Catherine
Producer: 20031027
In:
Human mutation vol. 22
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38.
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Phenotypic spectrum of the SMAD3-related aneurysms-osteoarthritis syndrome. [electronic resource] by
- van de Laar, Ingrid M B H
- van der Linde, Denise
- Oei, Edwin H G
- Bos, Pieter K
- Bessems, Johannes H
- Bierma-Zeinstra, Sita M
- van Meer, Belle L
- Pals, Gerard
- Oldenburg, Rogier A
- Bekkers, Jos A
- Moelker, Adriaan
- de Graaf, Bianca M
- Matyas, Gabor
- Frohn-Mulder, Ingrid M E
- Timmermans, Janneke
- Hilhorst-Hofstee, Yvonne
- Cobben, Jan M
- Bruggenwirth, Hennie T
- van Laer, Lut
- Loeys, Bart
- De Backer, Julie
- Coucke, Paul J
- Dietz, Harry C
- Willems, Patrick J
- Oostra, Ben A
- De Paepe, Anne
- Roos-Hesselink, Jolien W
- Bertoli-Avella, Aida M
- Wessels, Marja W
Producer: 20120410
In:
Journal of medical genetics vol. 49
Availability: No items available.
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