D'Annunzio G - Search Results

1

A novel CISD2 intragenic deletion, optic neuropathy and platelet aggregation defect in Wolfram syndrome type 2.

Mozzillo E, Delvecchio M, Carella M, Grandone E, Palumbo P, Salina A, Aloi C, Buono P, Izzo A, D'Annunzio G, Vecchione G, Orrico A, Genesio R, Simonelli F, Franzese A. Mozzillo E, et al. BMC Med Genet. 2014 Jul 24;15:88. doi: 10.1186/1471-2350-15-88. BMC Med Genet. 2014. PMID: 25056293 Free PMC article.

2

Estimation of genetic risk for Type 1 diabetes mellitus in newborns on dried blood spot.

Giannattasio A, Caruso U, Napoli F, Salina A, Aloi C, Lorini R, d'Annunzio G. Giannattasio A, et al. J Endocrinol Invest. 2010 Jun;33(6):406-8. doi: 10.1007/BF03346612. Epub 2010 Jan 22. J Endocrinol Invest. 2010. PMID: 20101097

3

Neonatal diabetes caused by pancreatic agenesia: which other genes should be used for diagnosis?

Salina A, Pasquali L, Aloi C, Lugani F, d'Annunzio G, Lorini R. Salina A, et al. Diabetes Care. 2010 Aug;33(8):e112. doi: 10.2337/dc10-0876. Diabetes Care. 2010. PMID: 20668147 Free PMC article. No abstract available.

4

A novel hepatocyte nuclear factor-1β (MODY 5) gene mutation in a Romanian boy with pancreatic calcifications, renal and hepatic dysfunction.

Banin P, Giovannini M, Raimondi F, D'Annunzio G, Sala S, Salina A, Aloi C, De Sanctis V. Banin P, et al. Georgian Med News. 2011 Apr;(193):55-60. Georgian Med News. 2011. PMID: 21617276

5

Mother and daughter carrying the same KCNJ11 mutation but with a different response to switching from insulin to sulfonylurea.

Russo C, Salina A, Aloi C, Iafusco D, Lorini R, d'Annunzio G. Russo C, et al. Diabetes Res Clin Pract. 2011 Nov;94(2):e50-2. doi: 10.1016/j.diabres.2011.07.039. Epub 2011 Aug 25. Diabetes Res Clin Pract. 2011. PMID: 21871684

6

Wolfram syndrome: new mutations, different phenotype.

Aloi C, Salina A, Pasquali L, Lugani F, Perri K, Russo C, Tallone R, Ghiggeri GM, Lorini R, d'Annunzio G. Aloi C, et al. PLoS One. 2012;7(1):e29150. doi: 10.1371/journal.pone.0029150. Epub 2012 Jan 4. PLoS One. 2012. PMID: 22238590 Free PMC article.

7

Hyperglycaemia and β-cell antibodies: is it always pre-type 1 diabetes?

d'Annunzio G, Marchi M, Aloi C, Salina A, Lugani F, Lorini R. d'Annunzio G, et al. Diabetes Res Clin Pract. 2013 Apr;100(1):e20-2. doi: 10.1016/j.diabres.2013.01.003. Epub 2013 Jan 24. Diabetes Res Clin Pract. 2013. PMID: 23352578

8

Novel homozygous mutation in exon 5 of WFS1 gene in an Apulian family with mild phenotypic expression of Wolfram syndrome.

Piccinno E, Ortolani F, Vendemiale M, Tummolo A, Masciopinto M, Natale MP, De Luca A, Agolini E, Aloi C, Salina A, D'Annunzio G, Fischetto R, Papadia F. Piccinno E, et al. Clin Genet. 2014 Aug;86(2):197-8. doi: 10.1111/cge.12260. Epub 2013 Oct 3. Clin Genet. 2014. PMID: 24117146 No abstract available.

9

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. J Clin Endocrinol Metab. 2017 Jun 1;102(6):1826-1834. doi: 10.1210/jc.2016-2490. J Clin Endocrinol Metab. 2017. PMID: 28323911

10

Glucokinase mutations in pediatric patients with impaired fasting glucose.

Aloi C, Salina A, Minuto N, Tallone R, Lugani F, Mascagni A, Mazza O, Cassanello M, Maghnie M, d'Annunzio G. Aloi C, et al. Acta Diabetol. 2017 Oct;54(10):913-923. doi: 10.1007/s00592-017-1021-y. Epub 2017 Jul 19. Acta Diabetol. 2017. PMID: 28726111

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