Zobrazeno 1 - 10
of 14
pro vyhledávání: '"Gábor Mátyás"'
Autor:
Roland Stengl, Bence Ágg, Miklós Pólos, Gábor Mátyás, Gábor Szabó, Béla Merkely, Tamás Radovits, Zoltán Szabolcs, Kálmán Benke
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 16, Iss 1, Pp 1-15 (2021)
Abstract Background Marfan syndrome (MFS) is a genetically determined systemic connective tissue disorder, caused by a mutation in the FBN1 gene. In MFS mainly the cardiovascular, musculoskeletal and ocular systems are affected. The most dangerous ma
Externí odkaz:
https://doaj.org/article/d5770b91bcf14a498d790756b0c096e6
Akademický článek
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Autor:
Kálmán, Benke, Bence, Ágg, Janine, Meienberg, Anna M, Kopps, Nathalie, Fattorini, Roland, Stengl, Noémi, Daradics, Miklós, Pólos, András, Bors, Tamás, Radovits, Béla, Merkely, Julie, De Backer, Zoltán, Szabolcs, Gábor, Mátyás
Publikováno v:
Journal of thoracic disease. 10(4)
Copy number variations (CNVs) comprise about 10% of reported disease-causing mutations in Mendelian disorders. Nevertheless, pathogenic CNVs may have been under-detected due to the lack or insufficient use of appropriate detection methods. In this re
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::ec21fd077b1fa8966df68894b5f9ff11
https://pubmed.ncbi.nlm.nih.gov/29850152
https://pubmed.ncbi.nlm.nih.gov/29850152
Autor:
Sven G.M de Vries, Rémy J. Petit, Andrew J. Lowe, Marie-Hélène Pemonge, Joan Cottrell, Amanda C. M. Gillies, John D Deans, R.C. Munro, Sándor Bordács, Armin O. König, S. Dumolin-Lapègue, H.E. Tabbener, Ulrike M Csaikl, Antoine Kremer, Jan Svejgaard Jensen, D. Taurchini, Flaviu Popescu, Els Coart, Kornel Burg, Birgit Ziegenhagen, Danko Slade, Gábor Mátyás, Pablo G. Goicoechea, Reiner Finkeldey, Søren Flemming Madsen, Izabela Glaz, Maria Olalde, Silvia Fineschi, Barbara van Dam
Publikováno v:
Forest Ecology and Management. 156:5-26
A consortium of 16 laboratories have studied chloroplast DNA (cpDNA) variation in European white oaks. A common strategy for molecular screening, based on restriction analysis of four PCR-amplified cpDNA fragments, was used to allow comparison among
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::cd5eacf90188c3105ef8f8416082e177
https://doi.org/10.1016/s0378-1127(01)00645-4
https://doi.org/10.1016/s0378-1127(01)00645-4
Autor:
Christina, Zeitz, Roberta, Minotti, Silke, Feil, Gábor, Mátyás, Frans P M, Cremers, Carel B, Hoyng, Wolfgang, Berger
Publikováno v:
Molecular vision. 11
To describe the clinical features and genetic analysis of eight X-linked congenital stationary night blindness (XLCSNB) Dutch patients.Electroretinogram (ERG) measurements were assessed in Dutch patients. Molecular genetic testing by denaturing high
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::1550296d12651d086e9e0e81f993681c
https://pubmed.ncbi.nlm.nih.gov/15761389
https://pubmed.ncbi.nlm.nih.gov/15761389
Autor:
Roland Stengl, András Bors, Bence Ágg, Miklós Pólos, Gabor Matyas, Mária Judit Molnár, Bálint Fekete, Dóra Csabán, Hajnalka Andrikovics, Béla Merkely, Tamás Radovits, Zoltán Szabolcs, Kálmán Benke
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 15, Iss 1, Pp 1-13 (2020)
Abstract Background Marfan syndrome (MFS) is a systemic connective tissue disorder with life-threatening manifestations affecting the ascending aorta. MFS is caused by dominant negative (DN) and haploinsufficient (HI) mutations of the FBN1 gene. Our
Externí odkaz:
https://doaj.org/article/8223e04783934362a464360837cf6ff9
Autor:
Gábor, Mátyás, Anne, De Paepe, Dorothy, Halliday, Catherine, Boileau, Gerard, Pals, Beat, Steinmann
Publikováno v:
Human mutation. 19(4)
Mutations in the human fibrillin 1 gene (FBN1) cause the Marfan syndrome (MFS), an autosomal dominant connective tissue disorder. Knowledge about FBN1 mutations is important for early diagnosis, management, and genetic counseling. However, mutation d
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::28cc313118270542f5a0be73359cd840
https://pubmed.ncbi.nlm.nih.gov/11933199
https://pubmed.ncbi.nlm.nih.gov/11933199
Publikováno v:
Human mutation. 19(1)
We present a novel method for accurate quantification of single nucleotide polymorphism (SNP) variants in transcripts and pooled DNAs in a one-tube reaction. Our approach is based on single- nucleotide primer extension (SNuPE) and laser-induced fluor
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::4038d8dbc707a207ca5f970c6f88ed12
https://pubmed.ncbi.nlm.nih.gov/11754104
https://pubmed.ncbi.nlm.nih.gov/11754104