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Defining the variant-phenotype correlation in patients affected by Noonan syndrome with the RAF1:c.770C>T p.(Ser257Leu) variant.
Gazzin A, Fornari F, Niceta M, Leoni C, Dentici ML, Carli D, Villar AM, Calcagni G, Banaudi E, Massuras S, Cardaropoli S, Airulo E, Daniele P, Monda E, Limongelli G, Riggi C, Zampino G, Digilio MC, De Luca A, Tartaglia M, Ferrero GB, Mussa A. Gazzin A, et al. Among authors: villar am. Eur J Hum Genet. 2024 Aug;32(8):964-971. doi: 10.1038/s41431-024-01643-6. Epub 2024 Jun 1. Eur J Hum Genet. 2024. PMID: 38824260
MEK Inhibition in a Newborn with RAF1-Associated Noonan Syndrome Ameliorates Hypertrophic Cardiomyopathy but Is Insufficient to Revert Pulmonary Vascular Disease.
Mussa A, Carli D, Giorgio E, Villar AM, Cardaropoli S, Carbonara C, Campagnoli MF, Galletto P, Palumbo M, Olivieri S, Isella C, Andelfinger G, Tartaglia M, Botta G, Brusco A, Medico E, Ferrero GB. Mussa A, et al. Among authors: villar am. Genes (Basel). 2021 Dec 21;13(1):6. doi: 10.3390/genes13010006. Genes (Basel). 2021. PMID: 35052347 Free PMC article.
Acute Cardiovascular Manifestations in 286 Children With Multisystem Inflammatory Syndrome Associated With COVID-19 Infection in Europe.
Valverde I, Singh Y, Sanchez-de-Toledo J, Theocharis P, Chikermane A, Di Filippo S, Kuciñska B, Mannarino S, Tamariz-Martel A, Gutierrez-Larraya F, Soda G, Vandekerckhove K, Gonzalez-Barlatay F, McMahon CJ, Marcora S, Napoleone CP, Duong P, Tuo G, Deri A, Nepali G, Ilina M, Ciliberti P, Miller O; AEPC COVID-19 Rapid Response Team*. Valverde I, et al. Circulation. 2021 Jan 5;143(1):21-32. doi: 10.1161/CIRCULATIONAHA.120.050065. Epub 2020 Nov 9. Circulation. 2021. PMID: 33166189 Free article.
An unusual heart.
Gabbarini F, Villar A, Agnoletti G. Gabbarini F, et al. Eur Heart J. 2011 Sep;32(17):2152. doi: 10.1093/eurheartj/ehr175. Epub 2011 May 30. Eur Heart J. 2011. PMID: 21624901 No abstract available.
Assessment of Individualized Mean Perfusion Pressure Targets for the Prevention of Cardiac Surgery-Associated Acute Kidney Injury-The PrevHemAKI Randomized Controlled Trial.
Molina-Andujar A, Rios J, Piñeiro GJ, Sandoval E, Ibañez C, Quintana E, Matute P, Andrea R, Lopez-Sobrino T, Mercadal J, Reverter E, Rovira I, Villar AM, Fernandez S, Castellà M, Poch E. Molina-Andujar A, et al. Among authors: villar am. J Clin Med. 2023 Dec 18;12(24):7746. doi: 10.3390/jcm12247746. J Clin Med. 2023. PMID: 38137815 Free PMC article.
44 results