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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: carbonara c. Genes (Basel). 2021 Dec 21;13(1):6. doi: 10.3390/genes13010006. Genes (Basel). 2021. PMID: 35052347 Free PMC article.
Variants Within TSC2 Exons 25 and 31 Are Very Unlikely to Cause Clinically Diagnosable Tuberous Sclerosis.
Ekong R, Nellist M, Hoogeveen-Westerveld M, Wentink M, Panzer J, Sparagana S, Emmett W, Dawson NL, Malinge MC, Nabbout R, Carbonara C, Barberis M, Padovan S, Futema M, Plagnol V, Humphries SE, Migone N, Povey S. Ekong R, et al. Among authors: carbonara c. Hum Mutat. 2016 Apr;37(4):364-70. doi: 10.1002/humu.22951. Epub 2016 Jan 12. Hum Mutat. 2016. PMID: 26703369 Free PMC article.
Bovine lactoferrin prevents invasive fungal infections in very low birth weight infants: a randomized controlled trial.
Manzoni P, Stolfi I, Messner H, Cattani S, Laforgia N, Romeo MG, Bollani L, Rinaldi M, Gallo E, Quercia M, Maule M, Mostert M, Decembrino L, Magaldi R, Mosca F, Vagnarelli F, Memo L, Betta PM, Stronati M, Farina D; Italian Task Force for the Study and Prevention of Neonatal Fungal Infections–the Italian Society of Neonatology. Manzoni P, et al. Pediatrics. 2012 Jan;129(1):116-23. doi: 10.1542/peds.2011-0279. Epub 2011 Dec 19. Pediatrics. 2012. PMID: 22184648 Clinical Trial.
Exposure to Gastric Acid Inhibitors Increases the Risk of Infection in Preterm Very Low Birth Weight Infants but Concomitant Administration of Lactoferrin Counteracts This Effect.
Manzoni P, García Sánchez R, Meyer M, Stolfi I, Pugni L, Messner H, Cattani S, Betta PM, Memo L, Decembrino L, Bollani L, Rinaldi M, Fioretti M, Quercia M, Maule M, Tavella E, Mussa A, Tzialla C, Laforgia N, Mosca F, Magaldi R, Mostert M, Farina D; Italian Task Force for the Study, and Prevention of Neonatal Fungal Infections and the Italian Society of Neonatology. Manzoni P, et al. J Pediatr. 2018 Feb;193:62-67.e1. doi: 10.1016/j.jpeds.2017.09.080. Epub 2017 Dec 1. J Pediatr. 2018. PMID: 29198543 Free article. Clinical Trial.