Papadia F - Search Results

1

Clinical and molecular characterization of a second family with the 12q14 microdeletion syndrome and review of the literature.

Fischetto R, Palumbo O, Ortolani F, Palumbo P, Leone MP, Causio FA, Pesce S, Digilio MC, Carella M, Papadia F. Fischetto R, et al. Among authors: papadia f. Am J Med Genet A. 2017 Jul;173(7):1922-1930. doi: 10.1002/ajmg.a.38253. Epub 2017 Apr 13. Am J Med Genet A. 2017. PMID: 28407409

2

"Evidence-based medicine: open and laparoscopic bariatric surgery" by Gentileschi et al., published in Surgical Endoscopy (2002) 16: 736-744.

Papadia FS. Papadia FS. Surg Endosc. 2003 Apr;17(4):666; author reply 667. doi: 10.1007/s00464-002-9110-5. Epub 2003 Feb 17. Surg Endosc. 2003. PMID: 12698335 No abstract available.

3

Pseudodiastrophic dysplasia type Burgio in a newborn.

Fischetto R, Causio F, Corso G, Lillo V, Natale B, Papadia F. Fischetto R, et al. Among authors: papadia f. Am J Med Genet. 1997 Aug 8;71(2):222-5. doi: 10.1002/(sici)1096-8628(19970808)71:2<222::aid-ajmg20>3.0.co;2-f. Am J Med Genet. 1997. PMID: 9217227

4

Novel TMEM67 mutations and genotype-phenotype correlates in meckelin-related ciliopathies.

Iannicelli M, Brancati F, Mougou-Zerelli S, Mazzotta A, Thomas S, Elkhartoufi N, Travaglini L, Gomes C, Ardissino GL, Bertini E, Boltshauser E, Castorina P, D'Arrigo S, Fischetto R, Leroy B, Loget P, Bonnière M, Starck L, Tantau J, Gentilin B, Majore S, Swistun D, Flori E, Lalatta F, Pantaleoni C, Penzien J, Grammatico P; International JSRD Study Group; Dallapiccola B, Gleeson JG, Attie-Bitach T, Valente EM. Iannicelli M, et al. Hum Mutat. 2010 May;31(5):E1319-31. doi: 10.1002/humu.21239. Hum Mutat. 2010. PMID: 20232449 Free PMC article.

5

A novel microdeletion syndrome at 3q13.31 characterised by developmental delay, postnatal overgrowth, hypoplastic male genitals, and characteristic facial features.

Molin AM, Andrieux J, Koolen DA, Malan V, Carella M, Colleaux L, Cormier-Daire V, David A, de Leeuw N, Delobel B, Duban-Bedu B, Fischetto R, Flinter F, Kjaergaard S, Kok F, Krepischi AC, Le Caignec C, Ogilvie CM, Maia S, Mathieu-Dramard M, Munnich A, Palumbo O, Papadia F, Pfundt R, Reardon W, Receveur A, Rio M, Ronsbro Darling L, Rosenberg C, Sá J, Vallee L, Vincent-Delorme C, Zelante L, Bondeson ML, Annerén G. Molin AM, et al. Among authors: papadia f. J Med Genet. 2012 Feb;49(2):104-9. doi: 10.1136/jmedgenet-2011-100534. Epub 2011 Dec 17. J Med Genet. 2012. PMID: 22180640 Free PMC article.

6

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. Among authors: papadia f. 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.

7

High rate of spontaneous normalization of celiac serology in a cohort of 446 children with type 1 diabetes: a prospective study.

Castellaneta S, Piccinno E, Oliva M, Cristofori F, Vendemiale M, Ortolani F, Papadia F, Catassi C, Cavallo L, Francavilla R. Castellaneta S, et al. Among authors: papadia f. Diabetes Care. 2015 May;38(5):760-6. doi: 10.2337/dc14-2890. Epub 2015 Mar 17. Diabetes Care. 2015. PMID: 25784659

8

Diabetes associated with dominant insulin gene mutations: outcome of 24-month, sensor-augmented insulin pump treatment.

Ortolani F, Piccinno E, Grasso V, Papadia F, Panzeca R, Cortese C, Felappi B, Tummolo A, Vendemiale M, Barbetti F. Ortolani F, et al. Among authors: papadia f. Acta Diabetol. 2016 Jun;53(3):499-501. doi: 10.1007/s00592-015-0793-1. Epub 2015 Aug 4. Acta Diabetol. 2016. PMID: 26239141 Free PMC article. No abstract available.

9

De novo microduplication of CHL1 in a patient with non-syndromic developmental phenotypes.

Palumbo O, Fischetto R, Palumbo P, Nicastro F, Papadia F, Zelante L, Carella M. Palumbo O, et al. Among authors: papadia f. Mol Cytogenet. 2015 Aug 16;8:66. doi: 10.1186/s13039-015-0170-3. eCollection 2015. Mol Cytogenet. 2015. PMID: 26279679 Free PMC article.

10

PARK2 Microduplication: Clinical and Molecular Characterization of a Further Case and Review of the Literature.

Palumbo O, Palumbo P, Leone MP, Stallone R, Palladino T, Vendemiale M, Palladino S, Papadia F, Carella M, Fischetto R. Palumbo O, et al. Among authors: papadia f. Mol Syndromol. 2016 Oct;7(5):282-286. doi: 10.1159/000448852. Epub 2016 Sep 2. Mol Syndromol. 2016. PMID: 27867343 Free PMC article.

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