Condition: Loeys-Dietz Syndrome


rs111426349 in TGFBR1 gene and Loeys-Dietz Syndrome PMID 16928994 2006 Aneurysm syndromes caused by mutations in the TGF-beta receptor.

PMID 21358634 2011 Multiple self-healing squamous epithelioma is caused by a disease-specific spectrum of mutations in TGFBR1.

PMID 21267002 2011 Dexamethasone normalizes aberrant elastic fiber production and collagen 1 secretion by Loeys-Dietz syndrome fibroblasts: a possible treatment?

PMID 22113417 2012 Clinical features and genetic analysis of Korean patients with Loeys-Dietz syndrome.

PMID 16791849 2006 Identification and in silico analyses of novel TGFBR1 and TGFBR2 mutations in Marfan syndrome-related disorders.

PMID 18455604 2008 Aortic dissection in a young man with Loeys-Dietz syndrome.

PMID 16799921 2006 TGFBR1 and TGFBR2 mutations in patients with features of Marfan syndrome and Loeys-Dietz syndrome.

PMID 26877057 2016 Genetic testing of 10 patients with features of Loeys-Dietz syndrome.

PMID 26848186 2016 Heterogeneity of aortic disease severity in patients with Loeys-Dietz syndrome.

PMID 19542084 2009 Analysis of multigenerational families with thoracic aortic aneurysms and dissections due to TGFBR1 or TGFBR2 mutations.

PMID 27879313 2016 International Registry of Patients Carrying TGFBR1 or TGFBR2 Mutations: Results of the MAC (Montalcino Aortic Consortium).

PMID 18703712 2008 Germline allele-specific expression of TGFBR1 confers an increased risk of colorectal cancer.

PMID 25644172 2015 Gene panel sequencing in heritable thoracic aortic disorders and related entities - results of comprehensive testing in a cohort of 264 patients.

PMID 18781618 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.

rs104893810 in TGFBR2 gene and Loeys-Dietz Syndrome PMID 18781618 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.

PMID 15731757 2005 A syndrome of altered cardiovascular, craniofacial, neurocognitive and skeletal development caused by mutations in TGFBR1 or TGFBR2.

PMID 17330129 2007 Severe aortic and arterial aneurysms associated with a TGFBR2 mutation.

PMID 23884466 2013 TGFβ receptor mutations impose a strong predisposition for human allergic disease.

PMID 21098638 2010 Quantitative analysis of TGFBR2 mutations in Marfan-syndrome-related disorders suggests a correlation between phenotypic severity and Smad signaling activity.

PMID 16928994 2006 Aneurysm syndromes caused by mutations in the TGF-beta receptor.

PMID 17935258 2008 A new locus-specific database (LSDB) for mutations in the TGFBR2 gene: UMD-TGFBR2.

PMID 22113417 2012 Clinical features and genetic analysis of Korean patients with Loeys-Dietz syndrome.

PMID 27879313 2016 International Registry of Patients Carrying TGFBR1 or TGFBR2 Mutations: Results of the MAC (Montalcino Aortic Consortium).

PMID 18084123 2007 A Japanese family of typical Loeys-Dietz syndrome with a TGFBR2 mutation.

PMID 21267002 2011 Dexamethasone normalizes aberrant elastic fiber production and collagen 1 secretion by Loeys-Dietz syndrome fibroblasts: a possible treatment?

PMID 16799921 2006 TGFBR1 and TGFBR2 mutations in patients with features of Marfan syndrome and Loeys-Dietz syndrome.

PMID 24220024 2013 We report a 7-year-old Japanese boy with Loeys-Dietz syndrome who carried a novel, de novo missense mutation in TGFBR2 (c.1142g > c, R381P).

PMID 16835936 2006 Comprehensive genetic analysis of relevant four genes in 49 patients with Marfan syndrome or Marfan-related phenotypes.

PMID 16283890 2005 Identification of a novel TGFBR2 gene mutation in a Korean patient with Loeys-Dietz aortic aneurysm syndrome; no mutation in TGFBR2 gene in 30 patients with classic Marfan's syndrome.

PMID 22095581 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.

PMID 28182693 2017 Molecular modeling and molecular dynamic simulation of the effects of variants in the TGFBR2 kinase domain as a paradigm for interpretation of variants obtained by next generation sequencing.

PMID 22772377 2013 Exon 47 skipping of fibrillin-1 leads preferentially to cardiovascular defects in patients with thoracic aortic aneurysms and dissections.

PMID 18852674 2009 Histopathologic findings in ascending aortas from individuals with Loeys-Dietz syndrome (LDS).