Associated Papers
Variability, asymmetry and sexual dimorphism in craniofacial anomalies in Loeys-Dietz syndrome 2: geometric morphometric analysis in mice.
Devine KR et al.
Scientific Reports, 2026
Bicuspid Aortic Valve in Heritable Thoracic Aortic Disease: Insights from the Montalcino Aortic Consortium.
Asokan KL et al.
Medrxiv : the Preprint Server for Health Sciences, 2025
Scalable approaches for generating, validating and incorporating data from high-throughput functional assays to improve clinical variant classification.
Padigepati SR et al.
Human Genetics, 2024
Neurofibromatosis type 1 mosaicism in patients with constitutional mismatch repair deficiency.
Guerrini-Rousseau L et al.
Journal of Medical Genetics, 2024
Oncogenic activation revealed by FGFR2 genetic alterations in intrahepatic cholangiocarcinomas.
Pu X et al.
Cell & Bioscience, 2023
Mining cancer genomes for change-of-metabolic-function mutations.
Tu KJ et al.
Communications Biology, 2023
Loeys-Dietz and Shprintzen-Goldberg syndromes: analysis of TGF-β-opathies with craniofacial manifestations using an innovative multimodality method.
Almpani K et al.
Journal of Medical Genetics, 2022
A genetically defined signature of responsiveness to erlotinib in early-stage pancreatic cancer patients: Results from the CONKO-005 trial.
Hoyer K et al.
Ebiomedicine, 2021
Severity of oro-dental anomalies in Loeys-Dietz syndrome segregates by gene mutation.
Jani P et al.
Journal of Medical Genetics, 2020
Identification of pathogenic missense mutations using protein stability predictors.
Gerasimavicius L et al.
Scientific Reports, 2020
Diversity spectrum analysis identifies mutation-specific effects of cancer driver genes.
Dong X et al.
Communications Biology, 2020
The Immunogenic Potential of Recurrent Cancer Drug Resistance Mutations: An In Silico Study.
Punta M et al.
Frontiers in Immunology, 2020
Genotypic Categorization of Loeys-Dietz Syndrome Based on 24 Novel Families and Literature Data.
Camerota L et al.
Genes, 2019
FEVR findings in patients with Loeys-Dietz syndrome type II.
Solinski MA et al.
Ophthalmic Genetics, 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
Drug-Sensitivity Screening and Genomic Characterization of 45 HPV-Negative Head and Neck Carcinoma Cell Lines for Novel Biomarkers of Drug Efficacy.
Lepikhova T et al.
Molecular Cancer Therapeutics, 2018
High prevalence of ventricular repolarization abnormalities in people carrying TGFβR2 mutations.
Extramiana F et al.
Scientific Reports, 2018
Somatic POLE exonuclease domain mutations are early events in sporadic endometrial and colorectal carcinogenesis, determining driver mutational landscape, clonal neoantigen burden and immune response.
Temko D et al.
The Journal of Pathology, 2018
Analysis of 100,000 human cancer genomes reveals the landscape of tumor mutational burden.
Chalmers ZR et al.
Genome Medicine, 2017
Inactivation of TGFβ receptors in stem cells drives cutaneous squamous cell carcinoma.
Cammareri P et al.
Nature Communications, 2016
New population-based exome data question the pathogenicity of some genetic variants previously associated with Marfan syndrome.
Yang RQ et al.
Bmc Genetics, 2014
Primary peripheral retinal nonperfusion in a family with Loeys-Dietz syndrome.
Longmuir SQ et al.
Journal of Aapos : the Official Publication of the American Association for Pediatric Ophthalmology and Strabismus, 2014
Rapid detection of gene mutations responsible for non-syndromic aortic aneurysm and dissection using two different methods: resequencing microarray technology and next-generation sequencing.
Sakai H et al.
Human Genetics, 2012
Low bone mass and high material bone density in two patients with Loeys-Dietz syndrome caused by transforming growth factor beta receptor 2 mutations.
Ben Amor IM et al.
Journal of Bone and Mineral Research : the Official Journal of the American Society for Bone and Mineral Research, 2012
Genotype-phenotype analysis of F-helix mutations at the kinase domain of TGFBR2, including a type 2 Marfan syndrome familial study.
Zhang L et al.
Molecular Vision, 2012
Expanding the skeletal phenotype of Loeys-Dietz syndrome.
Sousa SB et al.
American Journal of Medical Genetics. Part A, 2011
Mutations of the TGFBR2 gene in Chinese patients with Marfan-related syndrome.
Chen J et al.
Clinical and Investigative Medicine. Medecine Clinique Et Experimentale, 2010
Comparison of clinical presentations and outcomes between patients with TGFBR2 and FBN1 mutations in Marfan syndrome and related disorders.
Attias D et al.
Circulation, 2009
Paternal somatic mosaicism of a TGFBR2 mutation transmitting to an affected son with Loeys-Dietz syndrome.
Watanabe Y et al.
American Journal of Medical Genetics. Part A, 2008
Identification of 23 TGFBR2 and 6 TGFBR1 gene mutations and genotype-phenotype investigations in 457 patients with Marfan syndrome type I and II, Loeys-Dietz syndrome and related disorders.
Stheneur C et al.
Human Mutation, 2008
A new locus-specific database (LSDB) for mutations in the TGFBR2 gene: UMD-TGFBR2.
Frederic MY et al.
Human Mutation, 2008
Recent progress in genetics of Marfan syndrome and Marfan-associated disorders.
Mizuguchi T et al.
Journal of Human Genetics, 2007
Clinical features in a family with an R460H mutation in transforming growth factor beta receptor 2 gene.
Law C et al.
Journal of Medical Genetics, 2006
Comprehensive genetic analysis of relevant four genes in 49 patients with Marfan syndrome or Marfan-related phenotypes.
Sakai H et al.
American Journal of Medical Genetics. Part A, 2006
Two novel and one known mutation of the TGFBR2 gene in Marfan syndrome not associated with FBN1 gene defects.
Disabella E et al.
European Journal of Human Genetics : Ejhg, 2006