Výsledky vyhledávání - "Gabor Matyas"

Akademický článek

Optimising the mutation screening strategy in Marfan syndrome and identifying genotypes with more severe aortic involvement

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

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Akademický článek

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

Autor: Elisa Bombardieri, Marianne Rohrbach, Matthias Greutmann, Gabor Matyas, Roland Weber, Jovana Radulovic, Margrit Fasnacht Boillat, André Linka, Gabriella De Pasquale, Francesca Bonassin, Christine H. Attenhofer Jost

Publikováno v: Swiss Medical Weekly, Vol 150, Iss 1314 (2020)

INTRODUCTION Marfan syndrome (MFS) and related connective tissue disorders (CTDs) are increasingly recognised. Genetic testing has greatly improved the diagnostic outcome/power over the last two decades. In this study we describe a multicentre cohor

Externí odkaz: https://doaj.org/article/72a0b7e4eeec4680bb49558c60300ef0

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Akademický článek

Precise breakpoint localization of large genomic deletions using PacBio and Illumina next-generation sequencers

Autor: Michal J Okoniewski, Janine Meienberg, Andrea Patrignani, Alicja Szabelska, Gabor Matyas, Ralph Schlapbach

Publikováno v: BioTechniques, Vol 54, Iss 2, Pp 98-100 (2013)

Herein we present the applicability of single-molecule (PacBio RS) and second-generation sequencing technology (Illumina) to the characterization of large genomic deletions. By testing samples previously characterized using a Sanger approach, our met

Externí odkaz: https://doaj.org/article/f363850fc64242efa4b412ee82278823

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A pilot clinical trial with losartan in Myhre syndrome

Autor: Giuseppe Limongelli, Gerarda Cappuccio, Daniela Melis, Martina Caiazza, Marta Rubino, Nicola Brunetti-Pierri, Gabor Matyas, Antonella Iuliano, Alessandro Roca

Publikováno v: American Journal of Medical Genetics. Part a

Introduction Myhre syndrome (MS) is an ultra‐rare disorder due to pathogenic variants in the SMAD4 gene that encodes a protein regulating the TGF‐β pathway and extra‐cellular matrix (ECM) homeostasis. Main clinical features of MS include thick

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f6570d754bfd8e8894c682481b63803a
https://doi.org/10.1002/ajmg.a.62019

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Interdisziplinäre Betreuung von Menschen mit Marfan-Syndrom – Genetik, bildgebende Untersuchung und kardiovaskuläres System

Autor: Francesca Bonassin, Murat Yildiz, Giancarlo Bombardieri, Florian Schönhoff, Thierry Carrel, Gabor Matyas, Kerstin Wustmann, Kan Min, Petra Gehle, Christine Attenhofer Jost, Beatrice Früh

Publikováno v: Zeitschrift für Herz-,Thorax- und Gefäßchirurgie. 34:115-126

Das Marfan-Syndrom ist mit einer Pravalenz von etwa 1–2:10000 die haufigste hereditare Bindegewebserkrankung mit vaskularer Komponente. Ursache sind Mutationen in dem Gen, das fur das extrazellulare Matrixprotein Fibrillin‑1 kodiert. Die Erkranku

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::7d9ed866420f70ffbc00f1596da15ed2
https://doi.org/10.1007/s00398-020-00364-4

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Interdisciplinary care of people with Marfan syndrome - Pharmacology, pregnancy, eye, skeleton and organizational aspects

Autor: Kerstin Wustmann, Beatrice Früh, Murat Yildiz, Petra Gehle, Thierry Carrel, Kan Min, Florian S. Schoenhoff, Giancarlo Bombardieri, Gabor Matyas, Francesca Bonassin, Christine Attenhofer Jost

Publikováno v: Yildiz, Murat; Gabor, Matyas; Wustmann, Kerstin; Attenhofer Jost, Christine; Bonassin, Francesca; Früh, Beatrice; Kan, Min; Gehle, Petra; Bombardieri, Giancarlo; Carrel, Thierry; Schoenhoff, Florian (2021). Interdisciplinary care of people with Marfan syndrome-Pharmacology, pregnancy, eye, skeleton and organizational aspects. Zeitschrift für Herz-,Thorax-und Gefäßchirurgie, 35(4), pp. 232-241. Springer 10.1007/s00398-021-00444-z

ZusammenfassungIm ersten Teil des vorliegenden Beitrags wurde im Detail auf die Genetik, Diagnose, Differenzialdiagnose, die diagnostische Bildgebung, Follow-up, die kardiovaskulären Probleme sowie die Manifestation an Aorta und den großen Gefäße

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::16647df1ec4e00a667cec2bf02bffa57
https://boris.unibe.ch/157709/1/Yildiz2021_Article_Interdisziplin_reBetreuungVonM.pdf

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Variant filtering, digenic variants, and other challenges in clinical sequencing: a lesson from fibrillinopathies

Autor: Beat Steinmann, Gabor Matyas, Janine Meienberg, Sylvan M. Caspar, Marianne Rohrbach, Arash Najafi

Publikováno v: Clinical Genetics

Genome‐scale high‐throughput sequencing enables the detection of unprecedented numbers of sequence variants. Variant filtering and interpretation are facilitated by mutation databases, in silico tools, and population‐based reference datasets su

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::12a5630831c3ceee4127463add9491f7
https://doi.org/10.1111/cge.13640

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Potential predictors of severe cardiovascular involvement in Marfan syndrome: the emphasized role of genotype–phenotype correlations in improving risk stratification—a literature review

Autor: Miklós Pólos, Béla Merkely, Kálmán Benke, Zoltán Szabolcs, Gábor Szabó, Bence Ágg, Tamás Radovits, Gabor Matyas, Roland Stengl

Publikováno v: Orphanet Journal of Rare Diseases
Orphanet Journal of Rare Diseases, Vol 16, Iss 1, Pp 1-15 (2021)

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 manifestati

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::87c73661c2f9a0ef07caafd3b48ab646
https://doi.org/10.1186/s13023-021-01882-6

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Potential of whole-genome sequencing-based pharmacogenetic profiling

Autor: Sylvan M. Caspar, Timo Schneider, Janine Meienberg, Patricia Stoll, Gabor Matyas

Publikováno v: Pharmacogenomics. 22(3)

Pharmacogenetics represents a major driver of precision medicine, promising individualized drug selection and dosing. Traditionally, pharmacogenetic profiling has been performed using targeted genotyping that focuses on common/known variants. Recentl

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ac0daecbc9df585e75e8f7cfffc3195f
https://pubmed.ncbi.nlm.nih.gov/33517770

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[Untitled]

Autor: Yildiz, Murat, Gabor, Matyas, Wustmann, Kerstin, Attenhofer Jost, Christine, Bonassin, Francesca, Früh, Beatrice, Kan, Min, Gehle, Petra, Bombardieri, Giancarlo, Carrel, Thierry, Schoenhoff, Florian

Im ersten Teil des vorliegenden Beitrags wurde im Detail auf die Genetik, Diagnose, Differenzialdiagnose, die diagnostische Bildgebung, Follow-up, die kardiovaskulären Probleme sowie die Manifestation an Aorta und den großen Gefäßen bei Patienten

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::b2f2b539e0b2e9f2bd44904c3d71ab7a

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