Potential predictors of severe cardiovascular involvement in Marfan syndrome: the emphasized role of genotype–phenotype correlations in improving risk stratification—a literature review
Stengl, Roland, Ãgg, Bence, Pólos, Miklós, Mátyás, Gábor, Szabó, Gábor, Merkely, Béla, Radovits, Tamás, Szabolcs, Zoltán, Benke, Kálmán
Published in Orphanet journal of rare diseases (31.05.2021)
Published in Orphanet journal of rare diseases (31.05.2021)
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Identification and in silico analyses of novel TGFBR1 and TGFBR2 mutations in Marfan syndrome-related disorders
Mátyás, Gábor, Arnold, Eliane, Carrel, Thierry, Baumgartner, Daniela, Boileau, Catherine, Berger, Wolfgang, Steinmann, Beat
Published in Human mutation (01.08.2006)
Published in Human mutation (01.08.2006)
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Mutations in CABP4, the gene encoding the Ca2+-binding protein 4, cause autosomal recessive night blindness
ZEITZ, Christina, KLOECKENER-GRUISSEM, Barbara, MUNIER, Francis L, BERGER, Wolfgang, FORSTER, Ursula, KOHL, Susanne, MAGYAR, Istvan, WISSINGER, Bernd, MATYAS, Gabor, BORRUAT, Francois-Xavier, SCHORDERET, Daniel F, ZRENNER, Eberhart
Published in American journal of human genetics (01.10.2006)
Published in American journal of human genetics (01.10.2006)
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Large genomic fibrillin-1 (FBN1) gene deletions provide evidence for true haploinsufficiency in Marfan syndrome
MATYAS, Gabor, ALONSO, Sira, PATRIGNANI, Andrea, MARTI, Myriam, ARNOLD, Eliane, MAGYAR, Istvan, HENGGELER, Caroline, CARREL, Thierry, STEINMANN, Beat, BERGER, Wolfgang
Published in Human genetics (01.08.2007)
Published in Human genetics (01.08.2007)
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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
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
Published in Thrombosis and haemostasis (01.10.2015)
Published in Thrombosis and haemostasis (01.10.2015)
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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
MEIENBERG, Janine, ROHRBACH, Marianne, AZZARELLO-BURRI, Silvia, STEINER, Bernhard, NYGREN, Anders Oh, CARREL, Thierry, STEINMANN, Beat, MATYAS, Gábor, NEUENSCHWANDER, Stefan, SPANAUS, Katharina, GIUNTA, Cecilia, ALONSO, Sira, ARNOLD, Eliane, HENGGELER, Caroline, REGENASS, Stephan, PATRIGNANI, Andrea
Published in European journal of human genetics : EJHG (01.12.2010)
Published in European journal of human genetics : EJHG (01.12.2010)
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Hungarian Marfan family with large FBN1 deletion calls attention to copy number variation detection in the current NGS era
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
Published in Journal of thoracic disease (01.04.2018)
Published in Journal of thoracic disease (01.04.2018)
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Mutations in GRM6 Cause Autosomal Recessive Congenital Stationary Night Blindness with a Distinctive Scotopic 15-Hz Flicker Electroretinogram
Zeitz, Christina, van Genderen, Maria, Neidhardt, John, Luhmann, Ulrich F. O, Hoeben, Frank, Forster, Ursula, Wycisk, Katharina, Matyas, Gabor, Hoyng, Carel B, Riemslag, Frans, Meire, Francoise, Cremers, Frans P. M, Berger, Wolfgang
Published in Investigative ophthalmology & visual science (01.11.2005)
Published in Investigative ophthalmology & visual science (01.11.2005)
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Quantitative sequence analysis of FBN1 premature termination codons provides evidence for incomplete NMD in leukocytes
Magyar, István, Colman, Dvora, Arnold, Eliane, Baumgartner, Daniela, Bottani, Armand, Fokstuen, Siv, Addor, Marie-Claude, Berger, Wolfgang, Carrel, Thierry, Steinmann, Beat, Mátyás, Gábor
Published in Human mutation (01.09.2009)
Published in Human mutation (01.09.2009)
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A bioinformatics framework for genotype–phenotype correlation in humans with Marfan syndrome caused by FBN1 gene mutations
Baumgartner, Christian, Mátyás, Gábor, Steinmann, Beat, Eberle, Martin, Stein, Jörg I., Baumgartner, Daniela
Published in Journal of biomedical informatics (01.04.2006)
Published in Journal of biomedical informatics (01.04.2006)
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Added Value of Clinical Sequencing: WGS-Based Profiling of Pharmacogenes
Caspar, Sylvan M, Schneider, Timo, Meienberg, Janine, Matyas, Gabor
Published in International journal of molecular sciences (26.03.2020)
Published in International journal of molecular sciences (26.03.2020)
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Optimising the mutation screening strategy in Marfan syndrome and identifying genotypes with more severe aortic involvement
Stengl, Roland, Bors, András, Ágg, Bence, Pólos, Miklós, Matyas, Gabor, Molnár, Mária Judit, Fekete, Bálint, Csabán, Dóra, Andrikovics, Hajnalka, Merkely, Béla, Radovits, Tamás, Szabolcs, Zoltán, Benke, Kálmán
Published in Orphanet journal of rare diseases (15.10.2020)
Published in Orphanet journal of rare diseases (15.10.2020)
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Acute Aortic Dissection Determines the Fate of Initially Untreated Aortic Segments in Marfan Syndrome
SCHOENHOFF, Florian S, JUNGI, Silvan, CZERNY, Martin, ROOST, Eva, REINEKE, David, MATYAS, Gabor, STEINMANN, Beat, SCHMIDLI, Juerg, KADNER, Alexander, CARREL, Thierry
Published in Circulation (New York, N.Y.) (16.04.2013)
Published in Circulation (New York, N.Y.) (16.04.2013)
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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
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
Published in Swiss medical weekly (03.04.2020)
Published in Swiss medical weekly (03.04.2020)
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Evaluation and application of denaturing HPLC for mutation detection in Marfan syndrome: Identification of 20 novel mutations and two novel polymorphisms in the FBN1 gene
Mátyás, Gábor, De Paepe, Anne, Halliday, Dorothy, Boileau, Catherine, Pals, Gerard, Steinmann, Beat
Published in Human mutation (01.04.2002)
Published in Human mutation (01.04.2002)
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Large genomic fibrillin-1
Mátyás, Gábor, Alonso, Sira, Patrignani, Andrea, Marti, Myriam, Arnold, Eliane, Magyar, István, Henggeler, Caroline
Published in Human genetics (01.08.2007)
Published in Human genetics (01.08.2007)
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Journal Article
Identification and in silico analyses of novelTGFBR1 andTGFBR2 mutations in Marfan syndrome-related disorders
Mátyás, Gábor, Arnold, Eliane, Carrel, Thierry, Baumgartner, Daniela, Boileau, Catherine, Berger, Wolfgang, Steinmann, Beat
Published in Human mutation (01.08.2006)
Published in Human mutation (01.08.2006)
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