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Items: 12

1.

An 18 gene expression-based score classifier predicts the clinical outcome in stage 4 neuroblastoma.

Formicola D, Petrosino G, Lasorsa VA, Pignataro P, Cimmino F, Vetrella S, Longo L, Tonini GP, Oberthuer A, Iolascon A, Fischer M, Capasso M.

J Transl Med. 2016 May 17;14(1):142. doi: 10.1186/s12967-016-0896-7.

2.

Exome and deep sequencing of clinically aggressive neuroblastoma reveal somatic mutations that affect key pathways involved in cancer progression.

Lasorsa VA, Formicola D, Pignataro P, Cimmino F, Calabrese FM, Mora J, Esposito MR, Pantile M, Zanon C, De Mariano M, Longo L, Hogarty MD, de Torres C, Tonini GP, Iolascon A, Capasso M.

Oncotarget. 2016 Apr 19;7(16):21840-52. doi: 10.18632/oncotarget.8187.

3.

ZNF687 Mutations in Severe Paget Disease of Bone Associated with Giant Cell Tumor.

Divisato G, Formicola D, Esposito T, Merlotti D, Pazzaglia L, Del Fattore A, Siris E, Orcel P, Brown JP, Nuti R, Strazzullo P, Benassi MS, Cancela ML, Michou L, Rendina D, Gennari L, Gianfrancesco F.

Am J Hum Genet. 2016 Feb 4;98(2):275-86. doi: 10.1016/j.ajhg.2015.12.016.

4.

Higher Neuromuscular Manifestations of Fatigue in Dynamic than Isometric Pull-Up Tasks in Rock Climbers.

Boccia G, Pizzigalli L, Formicola D, Ivaldi M, Rainoldi A.

J Hum Kinet. 2015 Oct 14;47:31-9. doi: 10.1515/hukin-2015-0059. eCollection 2015 Sep 29.

5.

Distinct disease phenotypes linked to different combinations of GAA mutations in a large late-onset GSDII sibship.

Sampaolo S, Esposito T, Farina O, Formicola D, Diodato D, Gianfrancesco F, Cipullo F, Cremone G, Cirillo M, Del Viscovo L, Toscano A, Angelini C, Di Iorio G.

Orphanet J Rare Dis. 2013 Oct 10;8:159. doi: 10.1186/1750-1172-8-159.

6.

Digenic mutational inheritance of the integrin alpha 7 and the myosin heavy chain 7B genes causes congenital myopathy with left ventricular non-compact cardiomyopathy.

Esposito T, Sampaolo S, Limongelli G, Varone A, Formicola D, Diodato D, Farina O, Napolitano F, Pacileo G, Gianfrancesco F, Di Iorio G.

Orphanet J Rare Dis. 2013 Jun 21;8:91. doi: 10.1186/1750-1172-8-91.

7.

Giant cell tumor occurring in familial Paget's disease of bone: report of clinical characteristics and linkage analysis of a large pedigree.

Gianfrancesco F, Rendina D, Merlotti D, Esposito T, Amyere M, Formicola D, Muscariello R, De Filippo G, Strazzullo P, Nuti R, Vikkula M, Gennari L.

J Bone Miner Res. 2013 Feb;28(2):341-50. doi: 10.1002/jbmr.1750.

8.

A nonsynonymous TNFRSF11A variation increases NFκB activity and the severity of Paget's disease.

Gianfrancesco F, Rendina D, Di Stefano M, Mingione A, Esposito T, Merlotti D, Gallone S, Magliocca S, Goode A, Formicola D, Morello G, Layfield R, Frattini A, De Filippo G, Nuti R, Searle M, Strazzullo P, Isaia G, Mossetti G, Gennari L.

J Bone Miner Res. 2012 Feb;27(2):443-52. doi: 10.1002/jbmr.542.

9.

piR_015520 belongs to Piwi-associated RNAs regulates expression of the human melatonin receptor 1A gene.

Esposito T, Magliocca S, Formicola D, Gianfrancesco F.

PLoS One. 2011;6(7):e22727. doi: 10.1371/journal.pone.0022727. Epub 2011 Jul 26.

10.

The melatonin receptor 1A (MTNR1A) gene is associated with recurrent and idiopathic calcium nephrolithiasis.

Esposito T, Rendina D, Aloia A, Formicola D, Magliocca S, De Filippo G, Muscariello R, Mossetti G, Gianfrancesco F, Strazzullo P.

Nephrol Dial Transplant. 2012 Jan;27(1):210-8. doi: 10.1093/ndt/gfr216. Epub 2011 Jun 6.

PMID:
21652546
11.

Common variants in the regulative regions of GRIA1 and GRIA3 receptor genes are associated with migraine susceptibility.

Formicola D, Aloia A, Sampaolo S, Farina O, Diodato D, Griffiths LR, Gianfrancesco F, Di Iorio G, Esposito T.

BMC Med Genet. 2010 Jun 25;11:103. doi: 10.1186/1471-2350-11-103.

12.

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