M. Turturo

Long-term monitoring for short/branched-chain acyl-CoA dehydrogenase deficiency: A single-center 4-year experience and open issues

G. Parenti, P. Strisciuglio, M. Ruoppolo, 2022, Frontiers in Pediatrics.

Identification and characterization of seven novel mutations of elastin gene in a cohort of patients affected by supravalvular aortic stenosis

M. Digilio, C. Izzi, G. Merla, 2010, European Journal of Human Genetics.

VEGFR3 modulates brain microvessel branching in a mouse model of 22q11.2 deletion syndrome

E. Illingworth, M. Bilio, Gemma Flore, 2022, Life Science Alliance.

GPR143 mutational analysis in two Italian families with X-linked ocular albinism.

G. Merla, L. Micale, C. Fusco, 2009, Genetic testing and molecular biomarkers.

An atypical 7q11.23 deletion in a normal IQ Williams–Beuren syndrome patient

Alexandre Reymond, Giuseppe Merla, C. Howald, 2010, European Journal of Human Genetics.

TRIM8 modulates p53 activity to dictate cell cycle arrest

G. Pesole, E. Sbisà, G. Merla, 2012, Cell cycle.

A dual role for Tbx1 in cardiac lymphangiogenesis through genetic interaction with Vegfr3

E. Illingworth, A. Baldini, Maria Giuseppina Turturo, 2020, FASEB journal : official publication of the Federation of American Societies for Experimental Biology.

Tbx1 interacts genetically with Vegfr3 to regulate cardiac lymphangiogenesis in mice

E. Illingworth, A. Baldini, Maria Giuseppina Turturo, 2019, bioRxiv.