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Page 1
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.
Role of ductus venosus agenesis in right ventricle development.
Mastromoro G, Pizzuti A, Ventriglia F. Mastromoro G, et al. J Matern Fetal Neonatal Med. 2022 Aug;35(16):3110-3113. doi: 10.1080/14767058.2020.1810231. Epub 2020 Aug 25. J Matern Fetal Neonatal Med. 2022. PMID: 32842801 Free 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.
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
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.
External hydrocephalus as a prenatal feature of noonan syndrome.
Mastromoro G, De Luca A, Marchionni E, Spagnuolo A, Ventriglia F, Manganaro L, Pizzuti A. Mastromoro G, et al. Ann Hum Genet. 2021 Nov;85(6):249-252. doi: 10.1111/ahg.12436. Epub 2021 Jun 2. Ann Hum Genet. 2021. PMID: 34075583
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