Atonal homolog 7 (ATOH7) loss-of-function mutations in predominant bilateral optic nerve hypoplasia
Atac, David, Koller, Samuel, Hanson, James V M, Feil, Silke, Tiwari, Amit, Bahr, Angela, Baehr, Luzy, Magyar, István, Kottke, Raimund, Gerth-Kahlert, Christina, Berger, Wolfgang
Published in Human molecular genetics (01.01.2020)
Published in Human molecular genetics (01.01.2020)
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Arrhythmogenic right ventricular cardiomyopathy: implications of next-generation sequencing in appropriate diagnosis
Medeiros-Domingo, Argelia, Saguner, Ardan M, Magyar, István, Bahr, Angela, Akdis, Deniz, Brunckhorst, Corinna, Duru, Firat, Berger, Wolfgang
Published in Europace (London, England) (01.06.2017)
Published in Europace (London, England) (01.06.2017)
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C2orf71 Mutations as a Frequent Cause of Autosomal-Recessive Retinitis Pigmentosa: Clinical Analysis and Presentation of 8 Novel Mutations
Gerth-Kahlert, Christina, Tiwari, Amit, Hanson, James V M, Batmanabane, Vaishnavi, Traboulsi, Elias, Pennesi, Mark E, Al-Qahtani, Abdullah A, Lam, Byron L, Heckenlively, John, Zweifel, Sandrine A, Vincent, Ajoy, Fierz, Fabienne, Barthelmes, Daniel, Branham, Kari, Khan, Naheed, Bahr, Angela, Baehr, Luzy, Magyar, István, Koller, Samuel, Azzarello-Burri, Silvia, Niedrist, Dunja, Heon, Elise, Berger, Wolfgang
Published in Investigative ophthalmology & visual science (01.08.2017)
Published in Investigative ophthalmology & visual science (01.08.2017)
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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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A non-ancestral RPGR missense mutation in families with either recessive or semi-dominant X-linked retinitis pigmentosa
Banin, Eyal, Mizrahi-Meissonnier, Liliana, Neis, Ruhama, Silverstein, Shira, Magyar, István, Abeliovich, Dvorah, Roepman, Ronald, Berger, Wolfgang, Rosenberg, Thomas, Sharon, Dror
Published in American journal of medical genetics. Part A (01.06.2007)
Published in American journal of medical genetics. Part A (01.06.2007)
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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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Novel VCAN mutations and evidence for unbalanced alternative splicing in the pathogenesis of Wagner syndrome
Kloeckener-Gruissem, Barbara, Neidhardt, John, Magyar, István, Plauchu, Henri, Zech, Jean-Christophe, Morlé, Laurette, Palmer-Smith, Sheila M, MacDonald, Moira J, Nas, Véronique, Fry, Andrew E, Berger, Wolfgang
Published in European journal of human genetics : EJHG (01.03.2013)
Published in European journal of human genetics : EJHG (01.03.2013)
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Application of WES Towards Molecular Investigation of Congenital Cataracts: Identification of Novel Alleles and Genes in a Hospital-Based Cohort of South India
Kandaswamy, Dinesh Kumar, Prakash, Makarla Venkata Sathya, Graw, Jochen, Koller, Samuel, Magyar, István, Tiwari, Amit, Berger, Wolfgang, Santhiya, Sathiyaveedu Thyagarajan
Published in International journal of molecular sciences (16.12.2020)
Published in International journal of molecular sciences (16.12.2020)
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Journal Article
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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Journal Article
Novel VCAN mutations and evidence for unbalanced alternative splicing in the pathogenesis of Wagner syndrome
Kloeckener-Gruissem, Barbara, Neidhardt, John, Magyar, István, Plauchu, Henri, Zech, Jean-Christophe, Morlé, Laurette, Palmer-Smith, Sheila M, Macdonald, Moira J, Nas, Véronique, Fry, Andrew E, Berger, Wolfgang
Published in European journal of human genetics : EJHG (01.03.2013)
Published in European journal of human genetics : EJHG (01.03.2013)
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Serum DBH activity in psychotic vs. nonpsychotic unipolar and bipolar depression
Mód, László, Rihmer, Zoltán, Magyar, István, Arató, Mihály, Alföldi, Antal, Bagdy, György
Published in Psychiatry research (01.12.1986)
Published in Psychiatry research (01.12.1986)
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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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Dexamethasone suppression test and coping behavior in psychosocial stress
Frecska, Ede, Lukács, Hedvig, Arató, Mihály, Mód, László, Alföldi, Antal, Magyar, István
Published in Psychiatry research (01.02.1988)
Published in Psychiatry research (01.02.1988)
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Journal Article
Mutations in CABP4, the Gene Encoding the Ca 2+-Binding Protein 4, Cause Autosomal Recessive Night Blindness
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
Published in American journal of human genetics (2006)
Published in American journal of human genetics (2006)
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Journal Article
216-01: Arrhythmogenic Right Ventricular Cardiomyopathy: Implications of Next Generation Sequencing in Appropriate Diagnosis
Domingo, Argelia Medeiros, Saguner, Ardan, Magyar, Istvan, Bahr, Angela, Akdis, Deniz, Brunckhorst, Corinna, Duru, Firat, Berger, Wolfgang
Published in Europace (London, England) (01.06.2016)
Published in Europace (London, England) (01.06.2016)
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Journal Article
Alterations of the 5'untranslated region of SLC16A12 lead to age-related cataract
Zuercher, Jurian, Neidhardt, John, Magyar, Istvan, Labs, Stephan, Moore, Anthony T, Tanner, Felix C, Waseem, Naushin, Schorderet, Daniel F, Munier, Francis L, Bhattacharya, Shomi, Berger, Wolfgang, Kloeckener-Gruissem, Barbara
Published in Investigative ophthalmology & visual science (01.07.2010)
Published in Investigative ophthalmology & visual science (01.07.2010)
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