Lista de obras - Gabor Matyas - Dominio Público Uruguay

A bioinformatics framework for genotype-phenotype correlation in humans with Marfan syndrome caused by FBN1 gene mutations

artículo científico publicado en 2005

Acute aortic dissection determines the fate of initially untreated aortic segments in Marfan syndrome

artículo científico publicado en 2013

Added Value of Clinical Sequencing: WGS-Based Profiling of Pharmacogenes

artículo científico publicado en 2020

Barth syndrome in a female patient

artículo científico publicado en 2012

Birt-Hogg-Dubé syndrome: novel FLCN frameshift deletion in daughter and father with renal cell carcinomas.

artículo científico publicado en 2015

Cardiovascular surgery in Marfan syndrome: implications of new molecular concepts in thoracic aortic disease.

artículo científico publicado en 2011

Clinical profiles of four patients with Rett syndrome carrying a novel exon 1 mutation or genomic rearrangement in the MECP2 gene

artículo científico publicado en 2006

Clinical sequencing: from raw data to diagnosis with lifetime value

artículo científico publicado en 2017

Clinical sequencing: is WGS the better WES?

artículo científico publicado en 2016

De novo mutation of the latency-associated peptide domain of TGFB3 in a patient with overgrowth and Loeys-Dietz syndrome features

artículo científico publicado en 2014

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

artículo científico publicado en 2002

Gene polymorphisms as risk factors for predicting the cardiovascular manifestations in Marfan syndrome. Role of folic acid metabolism enzyme gene polymorphisms in Marfan syndrome

scientific article published on 11 June 2015

Genetic variation of oaks ( Quercus spp.) in Switzerland. 3. Lack of impact of postglacial recolonization history on nuclear gene loci

artículo científico publicado en 2002

HMOX1 and GST variants modify attenuation of FEF25-75% decline due to PM10 reduction

artículo científico publicado en 2010

Hemizygous deletion of COL3A1, COL5A2, and MSTN causes a complex phenotype with aortic dissection: a lesson for and from true haploinsufficiency

artículo científico publicado en 2010

Identification and in silico analyses of novel TGFBR1 and TGFBR2 mutations in Marfan syndrome-related disorders

artículo científico publicado en 2006

Large genomic fibrillin-1 (FBN1) gene deletions provide evidence for true haploinsufficiency in Marfan syndrome

scientific article published on 10 May 2007

Marfan syndrome--a diagnostic challenge caused by phenotypic and genetic heterogeneity

artículo científico publicado en 2005

Medical treatment of aortic aneurysms in Marfan syndrome and other heritable conditions

artículo científico publicado en 2014

Mutations in CABP4, the gene encoding the Ca2+-binding protein 4, cause autosomal recessive night blindness

artículo científico publicado en 2006

Mutations in GRM6 cause autosomal recessive congenital stationary night blindness with a distinctive scotopic 15-Hz flicker electroretinogram.

artículo científico publicado en 2005

Need for speed in accurate whole-genome data analysis: GENALICE MAP challenges BWA/GATK more than PEMapper/PECaller and Isaac

artículo científico publicado en 2017

New insights into the performance of human whole-exome capture platforms.

artículo científico publicado en 2015

Novel mutations in CACNA1F and NYX in Dutch families with X-linked congenital stationary night blindness

artículo científico publicado en 2005

Novel mutations in the folliculin gene associated with spontaneous pneumothorax.

artículo científico publicado en 2008

Outcome of aortic surgery in patients with Loeys-Dietz syndrome primarily treated as having Marfan syndrome

artículo científico publicado en 2014

Phenotypic spectrum of the SMAD3-related aneurysms–osteoarthritis syndrome

article by Ingrid M B H van de Laar et al published 13 December 2011 in Journal of Medical Genetics

Polar body biopsy for Curschmann-Steinert disease and successful pregnancy following embryo vitrification

artículo científico publicado en 2009

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

artículo científico publicado en 2013

Proteomic analysis in aortic media of patients with Marfan syndrome reveals increased activity of calpain 2 in aortic aneurysms

artículo científico publicado en 2009

Quantification of single nucleotide polymorphisms: a novel method that combines primer extension assay and capillary electrophoresis.

artículo científico publicado en 2002

Quantitative sequence analysis of FBN1 premature termination codons provides evidence for incomplete NMD in leukocytes

artículo científico publicado en 2009

Re: Management of patients with aortic dissection. New insights

artículo científico publicado en 2009

Recurrent spontaneous coronary dissections in a patient with a de novo fibrillin-1 mutation without Marfan syndrome

artículo científico publicado en 2014

Response to: The genetics and pathogenesis of thoracic aortic aneurysm disorder and dissections

artículo científico publicado en 2017

Scoliosis, blindness and arachnodactyly in a large Turkish family: is it a new syndrome?

artículo científico publicado en 2008

Severe phenotype with cis-acting heterozygous PMP22 mutations

artículo científico publicado en 2008

Tandem repeats in plant mitochondrial genomes: application to the analysis of population differentiation in the conifer Norway spruce

artículo científico publicado en 2001

The common G-allele of interleukin-18 single-nucleotide polymorphism is a genetic risk factor for atopic asthma. The SAPALDIA Cohort Study

artículo científico publicado en 2006

Update of the UMD-FBN1 mutation database and creation of an FBN1 polymorphism database

artículo científico publicado en 2003

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

scientific article published on 01 October 2019

Vascular Ehlers-Danlos syndrome: Can the beneficial effect of celiprolol be extrapolated to bisoprolol?

scientific article published on 06 November 2019

Lista de obras de Gabor Matyas

A bioinformatics framework for genotype-phenotype correlation in humans with Marfan syndrome caused by FBN1 gene mutations

Acute aortic dissection determines the fate of initially untreated aortic segments in Marfan syndrome

Added Value of Clinical Sequencing: WGS-Based Profiling of Pharmacogenes

Barth syndrome in a female patient

Birt-Hogg-Dubé syndrome: novel FLCN frameshift deletion in daughter and father with renal cell carcinomas.

Cardiovascular surgery in Marfan syndrome: implications of new molecular concepts in thoracic aortic disease.

Clinical profiles of four patients with Rett syndrome carrying a novel exon 1 mutation or genomic rearrangement in the MECP2 gene

Clinical sequencing: from raw data to diagnosis with lifetime value

Clinical sequencing: is WGS the better WES?

De novo mutation of the latency-associated peptide domain of TGFB3 in a patient with overgrowth and Loeys-Dietz syndrome features

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

Gene polymorphisms as risk factors for predicting the cardiovascular manifestations in Marfan syndrome. Role of folic acid metabolism enzyme gene polymorphisms in Marfan syndrome

Genetic variation of oaks ( Quercus spp.) in Switzerland. 3. Lack of impact of postglacial recolonization history on nuclear gene loci

HMOX1 and GST variants modify attenuation of FEF25-75% decline due to PM10 reduction

Hemizygous deletion of COL3A1, COL5A2, and MSTN causes a complex phenotype with aortic dissection: a lesson for and from true haploinsufficiency

Identification and in silico analyses of novel TGFBR1 and TGFBR2 mutations in Marfan syndrome-related disorders

Large genomic fibrillin-1 (FBN1) gene deletions provide evidence for true haploinsufficiency in Marfan syndrome

Marfan syndrome--a diagnostic challenge caused by phenotypic and genetic heterogeneity

Medical treatment of aortic aneurysms in Marfan syndrome and other heritable conditions

Mutations in CABP4, the gene encoding the Ca2+-binding protein 4, cause autosomal recessive night blindness

Mutations in GRM6 cause autosomal recessive congenital stationary night blindness with a distinctive scotopic 15-Hz flicker electroretinogram.

Need for speed in accurate whole-genome data analysis: GENALICE MAP challenges BWA/GATK more than PEMapper/PECaller and Isaac

New insights into the performance of human whole-exome capture platforms.

Novel mutations in CACNA1F and NYX in Dutch families with X-linked congenital stationary night blindness

Novel mutations in the folliculin gene associated with spontaneous pneumothorax.

Outcome of aortic surgery in patients with Loeys-Dietz syndrome primarily treated as having Marfan syndrome

Phenotypic spectrum of the SMAD3-related aneurysms–osteoarthritis syndrome

Polar body biopsy for Curschmann-Steinert disease and successful pregnancy following embryo vitrification

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

Proteomic analysis in aortic media of patients with Marfan syndrome reveals increased activity of calpain 2 in aortic aneurysms

Quantification of single nucleotide polymorphisms: a novel method that combines primer extension assay and capillary electrophoresis.

Quantitative sequence analysis of FBN1 premature termination codons provides evidence for incomplete NMD in leukocytes

Re: Management of patients with aortic dissection. New insights

Recurrent spontaneous coronary dissections in a patient with a de novo fibrillin-1 mutation without Marfan syndrome

Response to: The genetics and pathogenesis of thoracic aortic aneurysm disorder and dissections

Scoliosis, blindness and arachnodactyly in a large Turkish family: is it a new syndrome?

Severe phenotype with cis-acting heterozygous PMP22 mutations

Tandem repeats in plant mitochondrial genomes: application to the analysis of population differentiation in the conifer Norway spruce

The common G-allele of interleukin-18 single-nucleotide polymorphism is a genetic risk factor for atopic asthma. The SAPALDIA Cohort Study

Update of the UMD-FBN1 mutation database and creation of an FBN1 polymorphism database

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

Vascular Ehlers-Danlos syndrome: Can the beneficial effect of celiprolol be extrapolated to bisoprolol?