about
Mutations in CABP4, the gene encoding the Ca2+-binding protein 4, cause autosomal recessive night blindnessMedical treatment of aortic aneurysms in Marfan syndrome and other heritable conditionsNovel mutations in CACNA1F and NYX in Dutch families with X-linked congenital stationary night blindnessQuantification of single nucleotide polymorphisms: a novel method that combines primer extension assay and capillary electrophoresis.Cardiovascular surgery in Marfan syndrome: implications of new molecular concepts in thoracic aortic disease.Barth syndrome in a female patient.Hemizygous deletion of COL3A1, COL5A2, and MSTN causes a complex phenotype with aortic dissection: a lesson for and from true haploinsufficiencyMutations in GRM6 cause autosomal recessive congenital stationary night blindness with a distinctive scotopic 15-Hz flicker electroretinogram.Scoliosis, blindness and arachnodactyly in a large Turkish family: is it a new syndrome?Update of the UMD-FBN1 mutation database and creation of an FBN1 polymorphism database.New insights into the performance of human whole-exome capture platforms.Birt-Hogg-Dubé syndrome: novel FLCN frameshift deletion in daughter and father with renal cell carcinomas.Clinical sequencing: is WGS the better WES?Re: Management of patients with aortic dissection. New insights.Polar body biopsy for Curschmann-Steinert disease and successful pregnancy following embryo vitrification.HMOX1 and GST variants modify attenuation of FEF25-75% decline due to PM10 reduction.The common G-allele of interleukin-18 single-nucleotide polymorphism is a genetic risk factor for atopic asthma. The SAPALDIA Cohort Study.Novel mutations in the folliculin gene associated with spontaneous pneumothorax.Genetic variation of oaks ( Quercus spp.) in Switzerland. 3. Lack of impact of postglacial recolonization history on nuclear gene loci.Clinical sequencing: from raw data to diagnosis with lifetime value.Need for speed in accurate whole-genome data analysis: GENALICE MAP challenges BWA/GATK more than PEMapper/PECaller and Isaac.Tandem repeats in plant mitochondrial genomes: application to the analysis of population differentiation in the conifer Norway spruce.Clinical profiles of four patients with Rett syndrome carrying a novel exon 1 mutation or genomic rearrangement in the MECP2 gene.Acute aortic dissection determines the fate of initially untreated aortic segments in Marfan syndrome.Identification and in silico analyses of novel TGFBR1 and TGFBR2 mutations in Marfan syndrome-related disorders.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.Phenotypic spectrum of the SMAD3-related aneurysms–osteoarthritis syndromeDe novo mutation of the latency-associated peptide domain of TGFB3 in a patient with overgrowth and Loeys-Dietz syndrome featuresMarfan syndrome--a diagnostic challenge caused by phenotypic and genetic heterogeneityEvaluation and application of denaturing HPLC for mutation detection in Marfan syndrome: Identification of 20 novel mutations and two novel polymorphisms in the FBN1 geneLarge genomic fibrillin-1 (FBN1) gene deletions provide evidence for true haploinsufficiency in Marfan syndromeA bioinformatics framework for genotype-phenotype correlation in humans with Marfan syndrome caused by FBN1 gene mutationsSevere phenotype with cis-acting heterozygous PMP22 mutationsQuantitative sequence analysis of FBN1 premature termination codons provides evidence for incomplete NMD in leukocytesProteomic analysis in aortic media of patients with Marfan syndrome reveals increased activity of calpain 2 in aortic aneurysmsGene polymorphisms as risk factors for predicting the cardiovascular manifestations in Marfan syndrome. Role of folic acid metabolism enzyme gene polymorphisms in Marfan syndromePrecise breakpoint localization of large genomic deletions using PacBio and Illumina next-generation sequencersOutcome of aortic surgery in patients with Loeys-Dietz syndrome primarily treated as having Marfan syndromeVariant filtering, digenic variants, and other challenges in clinical sequencing: a lesson from fibrillinopathies
P50
Q24301994-7ADF2496-465D-4C58-9258-EA046779252EQ26823672-B6E26F41-6EAA-4722-BC12-67E55BD49724Q28239299-818EBF66-9F7F-4C3A-A265-27B87686116BQ31033018-C24E77B9-B5E0-4722-85A1-94A6343A21F1Q34204291-FABC5A27-6394-479F-B7EB-E4DCF4861FB2Q34260666-6D9BFCBA-DC76-4E5E-9123-6E30DB50448DQ34410196-CE483C69-6F23-4A76-95A1-AD8A3E707CABQ34462879-ADA8288C-0F41-4979-B3DF-590D3D3A06DCQ34875023-B38B6BE1-AB0F-4954-B39B-904BDC8A3CCCQ35205978-C98A02B4-A884-4852-B4B3-0A3AC3BC235BQ35770586-07FF3FC4-7E6A-4BAA-A958-84B6F45C14F3Q36422146-3291ACAC-5C70-4F1B-B7C9-00A170EFA6EFQ36590835-EFCA1FAA-EC6B-46EF-9151-7ACBAE3D9CA5Q41521828-2ADF52A6-547D-40B1-B762-380E24381C6CQ41610284-F9CEAFEE-EDA1-4EB3-8398-E2526D8087E1Q43147095-0E506D20-7F24-422E-BD87-559A04D2B5D1Q44559904-9A3A6CF9-CFA0-4A4E-98B7-29F76B3C5EE8Q46519211-AF39FBF9-B0B5-4FB2-9ED5-3877AC6E8391Q47314561-1B4E7D13-7534-484C-8B96-C81F422AE3B0Q47366867-D952D8BB-0083-4F94-A7BD-73F2BE5779FDQ47976068-5511E70B-5415-4335-9CEA-2899C0291ED1Q48376019-D51CB5DA-7BFF-4E7D-B0B2-CC5E9447B0CFQ48573765-B872F2EC-F9FB-416A-97A0-AFCBE908603FQ49132656-9984E2FB-87C4-4FAC-BCB2-8023E94B9DE1Q51939346-5FE44952-B2AA-4DFE-B6F5-3352CE61FB9EQ53665568-69A1821F-F2D0-4F22-B36F-9967B9586244Q53749585-913BAA3F-FEC6-4D92-AAC6-40B564DDA707Q57150245-C788091B-B12F-4ABB-820B-AF6FFF05AF74Q64050337-480282B9-C710-4B42-9FC2-9DFC207646C2Q64111722-998E001A-0D9A-4727-B233-7FC823360A99Q77880366-A1C23B4B-7F7F-402A-B710-26FDB2F56D49Q80305336-D04C5DB2-A6A1-43B0-8731-39D196D0CCC4Q80976079-9AB85F63-76B5-41ED-B7EA-7632B22EC63BQ82891080-3FE632B9-19DE-4B0A-BB8F-39A61BE4D5E2Q84256421-850436D2-88B6-4DF9-B7A6-F73E126B830CQ84500105-71CA9624-AC20-43B8-B55D-52081200420AQ85352504-BD3020B7-DB1D-4A3B-AED8-88DF9A90F979Q86065391-82B9943C-C763-4F65-8086-4A42CA642CB9Q87239152-ABF61C48-46F7-4121-BD12-8A8F20F748DEQ90047467-52089146-AACA-45CD-BED5-054744FB39BC
P50
description
hulumtues
@sq
researcher
@en
wetenschapper
@nl
հետազոտող
@hy
name
Gabor Matyas
@ast
Gabor Matyas
@en
Gabor Matyas
@es
Gabor Matyas
@nl
Gabor Matyas
@sl
type
label
Gabor Matyas
@ast
Gabor Matyas
@en
Gabor Matyas
@es
Gabor Matyas
@nl
Gabor Matyas
@sl
prefLabel
Gabor Matyas
@ast
Gabor Matyas
@en
Gabor Matyas
@es
Gabor Matyas
@nl
Gabor Matyas
@sl
P106
P21
P31
P496
0000-0002-3212-9963