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Expanding the phenotype of RTTN variations: a new family with primary microcephaly, severe growth failure, brain malformations and dermatitis.
Grandone A, Torella A, Santoro C, Giugliano T, Del Vecchio Blanco F, Mutarelli M, Cirillo M, Cirillo G, Piluso G, Capristo C, Festa A, Marzuillo P, Miraglia Del Giudice E, Perrone L, Nigro V. Grandone A, et al. Clin Genet. 2016 Nov;90(5):445-450. doi: 10.1111/cge.12771. Epub 2016 Apr 29. Clin Genet. 2016. PMID: 26940245
Effect of the rs997509 polymorphism on the association between ectonucleotide pyrophosphatase phosphodiesterase 1 and metabolic syndrome and impaired glucose tolerance in childhood obesity.
Santoro N, Cirillo G, Lepore MG, Palma A, Amato A, Savarese P, Marzuillo P, Grandone A, Perrone L, Del Giudice EM. Santoro N, et al. Among authors: grandone a. J Clin Endocrinol Metab. 2009 Jan;94(1):300-5. doi: 10.1210/jc.2008-1659. Epub 2008 Oct 21. J Clin Endocrinol Metab. 2009. PMID: 18940878
Prevalence of pathogenetic MC4R mutations in Italian children with early onset obesity, tall stature and familial history of obesity.
Santoro N, Cirillo G, Xiang Z, Tanas R, Greggio N, Morino G, Iughetti L, Vottero A, Salvatoni A, Di Pietro M, Balsamo A, Crinò A, Grandone A, Haskell-Luevano C, Perrone L, del Giudice EM. Santoro N, et al. Among authors: grandone a. BMC Med Genet. 2009 Mar 12;10:25. doi: 10.1186/1471-2350-10-25. BMC Med Genet. 2009. PMID: 19284607 Free PMC article.
117 results