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Items: 4

1.

Unusual Segregation of APP Mutations in Monogenic Alzheimer Disease.

Mastromoro G, Gambardella S, Marchionni E, Campopiano R, Traversa A, Di Bonaventura C, Pizzuti A.

Neurodegener Dis. 2019 Oct 2:1-5. doi: 10.1159/000502906. [Epub ahead of print]

PMID:
31578030
2.

Small 7p22.3 microdeletion: Case report of Snx8 haploinsufficiency and neurological findings.

Mastromoro G, Capalbo A, Guido CA, Torres B, Fabbretti M, Traversa A, Giancotti A, Ventriglia F, Bernardini L, Spalice A, Pizzuti A.

Eur J Med Genet. 2019 Sep 27:103772. doi: 10.1016/j.ejmg.2019.103772. [Epub ahead of print]

PMID:
31568860
3.

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.

Hum Mutat. 2019 Aug;40(8):1046-1056. doi: 10.1002/humu.23767. Epub 2019 May 6.

PMID:
31059601
4.

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.

PLoS One. 2019 Apr 1;14(4):e0211170. doi: 10.1371/journal.pone.0211170. eCollection 2019.

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