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Monogenic Diabetes Accounts for 6.3% of Cases Referred to 15 Italian Pediatric Diabetes Centers During 2007 to 2012.
Delvecchio M, Mozzillo E, Salzano G, Iafusco D, Frontino G, Patera PI, Rabbone I, Cherubini V, Grasso V, Tinto N, Giglio S, Contreas G, Di Paola R, Salina A, Cauvin V, Tumini S, d'Annunzio G, Iughetti L, Mantovani V, Maltoni G, Toni S, Marigliano M, Barbetti F; Diabetes Study Group of the Italian Society of Pediatric Endocrinology and Diabetes (ISPED). Delvecchio M, et al. Among authors: di paola r. J Clin Endocrinol Metab. 2017 Jun 1;102(6):1826-1834. doi: 10.1210/jc.2016-2490. J Clin Endocrinol Metab. 2017. PMID: 28323911
Low prevalence of HNF1A mutations after molecular screening of multiple MODY genes in 58 Italian families recruited in the pediatric or adult diabetes clinic from a single Italian hospital.
Delvecchio M, Ludovico O, Menzaghi C, Di Paola R, Zelante L, Marucci A, Grasso V, Trischitta V, Carella M, Barbetti F, Gallo F, Coccioli MS, Zecchino C, Faienza MF, Cardinale G, Franzese A, Mozzillo E, Iafusco D, Zanfardino A. Delvecchio M, et al. Among authors: di paola r. Diabetes Care. 2014 Dec;37(12):e258-60. doi: 10.2337/dc14-1788. Diabetes Care. 2014. PMID: 25414397 No abstract available.
Loss-of-Function Mutations in APPL1 in Familial Diabetes Mellitus.
Prudente S, Jungtrakoon P, Marucci A, Ludovico O, Buranasupkajorn P, Mazza T, Hastings T, Milano T, Morini E, Mercuri L, Bailetti D, Mendonca C, Alberico F, Basile G, Romani M, Miccinilli E, Pizzuti A, Carella M, Barbetti F, Pascarella S, Marchetti P, Trischitta V, Di Paola R, Doria A. Prudente S, et al. Among authors: di paola r. Am J Hum Genet. 2015 Jul 2;97(1):177-85. doi: 10.1016/j.ajhg.2015.05.011. Epub 2015 Jun 11. Am J Hum Genet. 2015. PMID: 26073777 Free PMC article.
Association of a homozygous GCK missense mutation with mild diabetes.
Marucci A, Biagini T, Di Paola R, Menzaghi C, Fini G, Castellana S, Cardinale GM, Mazza T, Trischitta V. Marucci A, et al. Among authors: di paola r. Mol Genet Genomic Med. 2019 Jul;7(7):e00728. doi: 10.1002/mgg3.728. Epub 2019 Jun 14. Mol Genet Genomic Med. 2019. PMID: 31197960 Free PMC article.
A Serum Resistin and Multicytokine Inflammatory Pathway Is Linked With and Helps Predict All-cause Death in Diabetes.
Scarale MG, Antonucci A, Cardellini M, Copetti M, Salvemini L, Menghini R, Mazza T, Casagrande V, Ferrazza G, Lamacchia O, De Cosmo S, Di Paola R, Federici M, Trischitta V, Menzaghi C. Scarale MG, et al. Among authors: di paola r. J Clin Endocrinol Metab. 2021 Oct 21;106(11):e4350-e4359. doi: 10.1210/clinem/dgab472. J Clin Endocrinol Metab. 2021. PMID: 34192323
Gain of Function of Malate Dehydrogenase 2 and Familial Hyperglycemia.
Jungtrakoon Thamtarana P, Marucci A, Pannone L, Bonnefond A, Pezzilli S, Biagini T, Buranasupkajorn P, Hastings T, Mendonca C, Marselli L, Di Paola R, Abubakar Z, Mercuri L, Alberico F, Flex E, Ceròn J, Porta-de-la-Riva M, Ludovico O, Carella M, Martinelli S, Marchetti P, Mazza T, Froguel P, Trischitta V, Doria A, Prudente S. Jungtrakoon Thamtarana P, et al. Among authors: di paola r. J Clin Endocrinol Metab. 2022 Feb 17;107(3):668-684. doi: 10.1210/clinem/dgab790. J Clin Endocrinol Metab. 2022. PMID: 34718610 Free PMC article.
Contribution of ONECUT1 variants to different forms of non-autoimmune diabetes mellitus in Italian patients.
Prudente S, Andreozzi F, Mercuri L, Alberico F, Di Giamberardino A, Mannino GC, Ludovico O, Piscitelli P, Di Paola R, Morano S, Penno G, Carella M, De Cosmo S, Trischitta V, Barbetti F. Prudente S, et al. Among authors: di giamberardino a, di paola r. Acta Diabetol. 2022 Aug;59(8):1113-1116. doi: 10.1007/s00592-022-01889-w. Epub 2022 Apr 28. Acta Diabetol. 2022. PMID: 35482136 No abstract available.
723 results