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Seven mutations in the human insulin gene linked to permanent neonatal/infancy-onset diabetes mellitus.
Colombo C, Porzio O, Liu M, Massa O, Vasta M, Salardi S, Beccaria L, Monciotti C, Toni S, Pedersen O, Hansen T, Federici L, Pesavento R, Cadario F, Federici G, Ghirri P, Arvan P, Iafusco D, Barbetti F; Early Onset Diabetes Study Group of the Italian Society of Pediatric Endocrinology and Diabetes (SIEDP). Colombo C, et al. Among authors: ghirri p. J Clin Invest. 2008 Jun;118(6):2148-56. doi: 10.1172/JCI33777. J Clin Invest. 2008. PMID: 18451997 Free PMC article.
Retinol-binding protein 4 in neonates born small for gestational age.
Giacomozzi C, Ghirri P, Lapolla R, Bartoli A, Scirè G, Serino L, Germani D, Boldrini A, Cianfarani S. Giacomozzi C, et al. Among authors: ghirri p. J Endocrinol Invest. 2010 Apr;33(4):218-21. doi: 10.1007/BF03345782. Epub 2010 May 5. J Endocrinol Invest. 2010. PMID: 20503483 Free article.
Identification of three novel mutations in the CHD7 gene in patients with clinical signs of typical or atypical CHARGE syndrome.
Michelucci A, Ghirri P, Iacopetti P, Conidi ME, Fogli A, Baldinotti F, Lunardi S, Forli F, Moscuzza F, Berrettini S, Boldrini A, Simi P, Pellegrini S. Michelucci A, et al. Among authors: ghirri p. Int J Pediatr Otorhinolaryngol. 2010 Dec;74(12):1441-4. doi: 10.1016/j.ijporl.2010.09.006. Epub 2010 Oct 12. Int J Pediatr Otorhinolaryngol. 2010. PMID: 20943277
Somatic mutations and progressive monosomy modify SAMD9-related phenotypes in humans.
Buonocore F, Kühnen P, Suntharalingham JP, Del Valle I, Digweed M, Stachelscheid H, Khajavi N, Didi M, Brady AF, Blankenstein O, Procter AM, Dimitri P, Wales JKH, Ghirri P, Knöbl D, Strahm B, Erlacher M, Wlodarski MW, Chen W, Kokai GK, Anderson G, Morrogh D, Moulding DA, McKee SA, Niemeyer CM, Grüters A, Achermann JC. Buonocore F, et al. Among authors: ghirri p. J Clin Invest. 2017 May 1;127(5):1700-1713. doi: 10.1172/JCI91913. Epub 2017 Mar 27. J Clin Invest. 2017. PMID: 28346228 Free PMC article.
86 results