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

By B. Loeys, Junji Chen, E. Neptune, D. Judge, Megan Podowski, Tammy M. Holm, J. Meyers, C. C. Leitch, N. Katsanis, N. Sharifi and 14 more. Nature Genetics, 2005

1,760 citations recorded by the source corpus.

Subfields: Genetics, Molecular Biology

View Paper: https://www.semanticscholar.org/paper/5e65e90a6dea6623d26163d12e4bbca6264aa221

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Citations in the corpus

Guidelines for the Diagnosis and Management of Patients With Thoracic Aortic Disease (2010, background): “Chest x-ray often serves as a part of the evaluaon of patients with potential acute AoD, primarily to entify other causes of patient’s symptoms, but also as a reening test to identify findings due to a dilated aorta or eeding.”
qBase relative quantification framework and software for management and automated analysis of real-time quantitative PCR data (2007, background): “Although not yet published, this advanced and generalized model of relative quantification has been applied previously in our nucleic acid quantification studies [8-12].”
Mutations in SMAD3 cause a syndromic form of aortic aneurysms and dissections with early-onset osteoarthritis (2011, background): “This discovery led to the identification of a key role for TGF-β and downstream signal transducers in the pathogenesis of aortic aneurysm”
The revised Ghent nosology for the Marfan syndrome (2010, background): “It is caused by heterozygous mutations in the genes encoding the type 1 or 2 subunit of the transforming growth factor-b receptor (TGFBR1 or TGFBR2).(33) Other more variable clinical features that distinguish LDS from MFS include craniosynostosis, Chiari malformation, clubfoot deformity, congenital ”