Associated Papers
Identification of TGFBR1 Gene Variants in Two Chinese Pedigrees with Loeys-Dietz Syndrome.
Qiu J et al.
Brazilian Journal of Cardiovascular Surgery, 2025
Optimising the mutation screening strategy in Marfan syndrome and identifying genotypes with more severe aortic involvement.
Stengl R et al.
Orphanet Journal of Rare Diseases, 2020
33059708 (PubMed )
Supplement: 13023_2020_1569_MOESM1_ESM.pdf
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
Establishment, molecular and biological characterization of HCB-514: a novel human cervical cancer cell line.
Rosa MN et al.
Scientific Reports, 2019
Comprehensive evaluation of coding region point mutations in microsatellite-unstable colorectal cancer.
Kondelin J et al.
Embo Molecular Medicine, 2018
30108113 (PubMed )
Supplement: EMMM-10-e8552-s004.xlsx › Sheet1
Sporadic Early-Onset Diffuse Gastric Cancers Have High Frequency of Somatic CDH1 Alterations, but Low Frequency of Somatic RHOA Mutations Compared With Late-Onset Cancers.
Cho SY et al.
Gastroenterology, 2017
28522256 (PubMed )
Supplement: NIHMS1058936-supplement-Table_S3.xlsx › VCF
Next-generation sequencing for diagnosis of thoracic aortic aneurysms and dissections: diagnostic yield, novel mutations and genotype phenotype correlations.
Poninska JK et al.
Journal of Translational Medicine, 2016
Heterogeneity of aortic disease severity in patients with Loeys-Dietz syndrome.
Teixidó-Tura G et al.
Heart (british Cardiac Society), 2016
Genetic alterations of the TGF-beta signaling pathway in colorectal cancer cell lines: a novel mutation in Smad3 associated with the inactivation of TGF-beta-induced transcriptional activation.
Ku JL et al.
Cancer Letters, 2007
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