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Left pulmonary artery in 22q11.2 deletion syndrome. Echocardiographic evaluation in patients without cardiac defects and role of Tbx1 in mice.
Mastromoro G, Calcagni G, Versacci P, Putotto C, Chinali M, Lambiase C, Unolt M, Pelliccione E, Anaclerio S, Caprio C, Cioffi S, Bilio M, Baban A, Drago F, Digilio MC, Marino B, Baldini A. Mastromoro G, et al. PLoS One. 2019 Apr 1;14(4):e0211170. doi: 10.1371/journal.pone.0211170. eCollection 2019. PLoS One. 2019. PMID: 30933971 Free PMC article.
Crossed pulmonary arteries: An underestimated cardiovascular variant with a strong association with genetic syndromes-A report of 74 cases with systematic review of the literature.
Mastromoro G, Calcagni G, Vignaroli W, Anaclerio S, Pugnaloni F, Rinelli G, Secinaro A, Bordonaro V, Putotto C, Unolt M, Digilio MC, Marino B, Versacci P. Mastromoro G, et al. Am J Med Genet A. 2022 Aug;188(8):2351-2359. doi: 10.1002/ajmg.a.62763. Epub 2022 May 2. Am J Med Genet A. 2022. PMID: 35491976 Review.
Neonatal Marfan Syndrome by Inherited Mutation.
Mastromoro G, Guida V, Cellitti R, Cardilli V, De Luca A, Pizzuti A, Versacci P. Mastromoro G, et al. Indian J Pediatr. 2021 Feb;88(2):176-177. doi: 10.1007/s12098-020-03411-y. Epub 2020 Jun 17. Indian J Pediatr. 2021. PMID: 32557139 No abstract available.
Variants of SOS2 are a rare cause of Noonan syndrome with particular predisposition for lymphatic complications.
Lissewski C, Chune V, Pantaleoni F, De Luca A, Capri Y, Brinkmann J, Lepri F, Daniele P, Leenders E, Mazzanti L, Scarano E, Radio FC, Kutsche K, Kuechler A, Gérard M, Ranguin K, Legendre M, Vial Y, van der Burgt I, Rinne T, Andreucci E, Mastromoro G, Digilio MC, Cave H, Tartaglia M, Zenker M. Lissewski C, et al. Among authors: mastromoro g. Eur J Hum Genet. 2021 Jan;29(1):51-60. doi: 10.1038/s41431-020-00708-6. Epub 2020 Aug 12. Eur J Hum Genet. 2021. PMID: 32788663 Free PMC article.
Clinical and functional characterization of a novel RASopathy-causing SHOC2 mutation associated with prenatal-onset hypertrophic cardiomyopathy.
Motta M, Giancotti A, Mastromoro G, Chandramouli B, Pinna V, Pantaleoni F, Di Giosaffatte N, Petrini S, Mazza T, D'Ambrosio V, Versacci P, Ventriglia F, Chillemi G, Pizzuti A, Tartaglia M, De Luca A. Motta M, et al. Among authors: mastromoro g. Hum Mutat. 2019 Aug;40(8):1046-1056. doi: 10.1002/humu.23767. Epub 2019 May 6. Hum Mutat. 2019. PMID: 31059601
Fetal echocardiographic features of absent pulmonary valve syndrome.
Piacentini G, Mastromoro G, Romano V, Riccardi R, Orfeo L. Piacentini G, et al. Among authors: mastromoro g. Am J Obstet Gynecol. 2022 Aug;227(2):331-332. doi: 10.1016/j.ajog.2022.02.023. Epub 2022 Feb 22. Am J Obstet Gynecol. 2022. PMID: 35216967 No abstract available.
When to test fetuses for RASopathies? Proposition from a systematic analysis of 352 multicenter cases and a postnatal cohort.
Scott A, Di Giosaffatte N, Pinna V, Daniele P, Corno S, D'Ambrosio V, Andreucci E, Marozza A, Sirchia F, Tortora G, Mangiameli D, Di Marco C, Romagnoli M, Donati I, Zonta A, Grosso E, Naretto VG, Mastromoro G, Versacci P, Pantaleoni F, Radio FC, Mazza T, Damante G, Papi L, Mattina T, Giancotti A, Pizzuti A, Laberge AM, Tartaglia M, Delrue MA, De Luca A. Scott A, et al. Among authors: mastromoro g. Genet Med. 2021 Jun;23(6):1116-1124. doi: 10.1038/s41436-020-01093-7. Epub 2021 Feb 10. Genet Med. 2021. PMID: 33568805 Free article.
38 results