Associated Papers
Oxford Nanopore Technologies [ONT] Sequencing: Clinical Validation in Genetically Heterogeneous Disorders.
Urtis M et al.
Genes, 2025
Comprehensive Evaluation of a 1021-Gene Panel in FFPE and Liquid Biopsy for Analytical and Clinical Use.
Meintani A et al.
International Journal of Molecular Sciences, 2025
Hyper IgE Syndromes: Understanding, Management, and Future Perspectives: A Narrative Review.
Salehi M et al.
Health Science Reports, 2025
The endometrial cancer A230V-ALK5 (TGFBR1) mutant attenuates TGF-β signaling and exhibits reduced in vitro sensitivity to ALK5 inhibitors.
Yu EJ et al.
Plos One, 2024
Post-mortem genetic testing in sudden cardiac death and genetic screening of relatives at risk: lessons learned from a Czech pilot multidisciplinary study.
Votýpka P et al.
International Journal of Legal Medicine, 2023
Early clinical outcomes and molecular smooth muscle cell phenotyping using a prophylactic aortic arch replacement strategy in Loeys-Dietz syndrome.
Pedroza AJ et al.
The Journal of Thoracic and Cardiovascular Surgery, 2023
Association Between Genetic Diagnosis and Clinical Outcomes in Patients With Heritable Thoracic Aortic Disease.
Yagyu T et al.
Journal of the American Heart Association, 2023
Are transient protein-protein interactions more dispensable?
Ghadie MA et al.
Plos Computational Biology, 2022
Aortic root aortopathy in bicuspid aortic valve associated with high genetic risk.
Ma M et al.
Bmc Cardiovascular Disorders, 2021
A comprehensive analysis of somatic alterations in Chinese ovarian cancer patients.
Zhang Y et al.
Scientific Reports, 2021
Mutation Edgotype Drives Fitness Effect in Human.
Ghadie M et al.
Frontiers in Bioinformatics, 2021
Identification of pathogenic missense mutations using protein stability predictors.
Gerasimavicius L et al.
Scientific Reports, 2020
Genetic profiling and cardiovascular phenotypic spectrum in a Chinese cohort of Loeys-Dietz syndrome patients.
Yang H et al.
Orphanet Journal of Rare Diseases, 2020
Genotypic Categorization of Loeys-Dietz Syndrome Based on 24 Novel Families and Literature Data.
Camerota L et al.
Genes, 2019
Estimating dispensable content in the human interactome.
Ghadie M et al.
Nature Communications, 2019
Analysis of error profiles in deep next-generation sequencing data.
Ma X et al.
Genome Biology, 2019
Features of multiple self-healing squamous epithelioma and Loeys-Dietz syndrome in a patient with a novel TGFBR1 variant.
Sirisomboonwong KE et al.
American Journal of Medical Genetics. Part A, 2018
First evidence of maternally inherited mosaicism in TGFBR1 and subtle primary myocardial changes in Loeys-Dietz syndrome: a case report.
Baban A et al.
Bmc Medical Genetics, 2018
Results of next-generation sequencing gene panel diagnostics including copy-number variation analysis in 810 patients suspected of heritable thoracic aortic disorders.
Overwater E et al.
Human Mutation, 2018
Aortic dissection and stroke in a 37-year-old woman: discovering an emerging heritable connective tissue disorder.
Pieroni A et al.
Internal and Emergency Medicine, 2015
Loeys-Dietz syndrome in a Southeast Asian Hospital: a case series.
Ting TW et al.
European Journal of Pediatrics, 2014
Overexpression of Gremlin-1 in patients with Loeys-Dietz syndrome: implications on pathophysiology and early disease detection.
Wellbrock J et al.
Plos One, 2014
TGFBR1 mutations associated with Loeys-Dietz syndrome are inactivating.
Cardoso S et al.
Journal of Receptor and Signal Transduction Research, 2012
Clinical features and genetic analysis of Korean patients with Loeys-Dietz syndrome.
Yang JH et al.
Journal of Human Genetics, 2012
Dexamethasone normalizes aberrant elastic fiber production and collagen 1 secretion by Loeys-Dietz syndrome fibroblasts: a possible treatment?
Barnett CP et al.
European Journal of Human Genetics : Ejhg, 2011
Multiple self-healing squamous epithelioma is caused by a disease-specific spectrum of mutations in TGFBR1.
Goudie DR et al.
Nature Genetics, 2011
Functional analysis of the BMP9 response of ALK1 mutants from HHT2 patients: a diagnostic tool for novel ACVRL1 mutations.
Ricard N et al.
Blood, 2010
Aortic dissection in a young man with Loeys-Dietz syndrome.
Melenovsky V et al.
The Journal of Thoracic and Cardiovascular Surgery, 2008
Phenotypic heterogeneity of Marfan-like connective tissue disorders associated with mutations in the transforming growth factor-beta receptor genes.
Akutsu K et al.
Circulation Journal : Official Journal of the Japanese Circulation Society, 2007
Identification and in silico analyses of novel TGFBR1 and TGFBR2 mutations in Marfan syndrome-related disorders.
Mátyás G et al.
Human Mutation, 2006