Associated Papers
Acute Transverse Myelitis in a Patient With Type 2 Loeys-Dietz Syndrome: A Report of a Rare Case From India.
Parida S et al.
Cureus, 2024
Amelogenesis imperfecta: Next-generation sequencing sheds light on Witkop's classification.
Bloch-Zupan A et al.
Frontiers in Physiology, 2023
Advantages and Limitations of Monitoring Circulating Tumor DNA Levels to Predict the Prognosis of Patients Diagnosed With Gastric Cancer.
He W et al.
Biomarker Insights, 2022
36533271 (PubMed )
Supplement: sj-xlsx-2-bmi-10.1177_11772719221141525.xlsx › mutation_list_of_the_former_22_
Human Marfan and Marfan-like Syndrome associated mutations lead to altered trafficking of the Type II TGFβ receptor in Caenorhabditis elegans.
Lin J et al.
Plos One, 2019
New population-based exome data question the pathogenicity of some genetic variants previously associated with Marfan syndrome.
Yang RQ et al.
Bmc Genetics, 2014
24941995 (PubMed )
Supplement: 1471-2156-15-74-S2.docx
Germline TGF-beta receptor mutations and skeletal fragility: a report on two patients with Loeys-Dietz syndrome.
Kirmani S et al.
American Journal of Medical Genetics. Part A, 2010
Recent progress in genetics of Marfan syndrome and Marfan-associated disorders.
Mizuguchi T et al.
Journal of Human Genetics, 2007
Identification and in silico analyses of novel TGFBR1 and TGFBR2 mutations in Marfan syndrome-related disorders.
Mátyás G et al.
Human Mutation, 2006
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