Show
Sort by
-
International registry of patients carrying TGFBR1 or TGFBR2 mutations results of the MAC (Montalcino Aortic Consortium)
-
NIK promotes tissue destruction independently of the alternative NF-κB pathway through TNFR1/RIP1-induced apoptosis
-
- Journal Article
- A1
- open access
Absence of cardiovascular manifestations in a haploinsufficient TGFBR1 mouse model
-
New insights into the molecular diagnosis and management of heritable thoracic aortic aneurysms and dissections
(2013) POLSKIE ARCHIWUM MEDYCYNY WEWNETRZNEJ-POLISH ARCHIVES OF INTERNAL MEDICINE. 123(12). p.693-700 -
Clinical utility gene card for: Loeys-Dietz syndrome (TGFBR1/2) and related phenotypes
-
A Turkish patient of typical Loeys-Dietz syndrome with a TGFBR2 mutation
-
- Journal Article
- A1
- open access
A new sporadic case of early-onset Loeys-Dietz syndrome due to the recurrent mutation p.R528C in the TGFBR2 gene substantiates interindividual clinical variability
-
Fortschritt in der Pathogenese des Marfan-Syndroms und verwandter Krankheiten
-
Contribution of molecular analyses in diagnosing Marfan syndrome and type I fibrillinopathies: an international study of 1009 probands