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ZNF687 Mutations in an Extended Cohort of Neoplastic Transformations in Paget's Disease of Bone: Implications for Clinical Pathology.

Scotto di Carlo F, Pazzaglia L, Mumm S, Benassi MS, De Chiara A, Franchi A, Parafioriti A, Righi A, Esposito T, Whyte MP, Gianfrancesco F.

J Bone Miner Res. 2020 Feb 27. doi: 10.1002/jbmr.3993. [Epub ahead of print]


The Loss of Profilin 1 Causes Early Onset Paget's Disease of Bone.

Scotto di Carlo F, Pazzaglia L, Esposito T, Gianfrancesco F.

J Bone Miner Res. 2020 Jan 28. doi: 10.1002/jbmr.3964. [Epub ahead of print]


Early posterior vitreous detachment is associated with LAMA5 dominant mutation.

Napolitano F, Di Iorio V, Di Iorio G, Melone MAB, Gianfrancesco F, Simonelli F, Esposito T, Testa F, Sampaolo S.

Ophthalmic Genet. 2019 Feb;40(1):39-42. doi: 10.1080/13816810.2018.1558261. Epub 2018 Dec 27.


The identification of H3F3A mutation in giant cell tumour of the clivus and the histological diagnostic algorithm of other clival lesions permit the differential diagnosis in this location.

Scotto di Carlo F, Divisato G, Iacoangeli M, Esposito T, Gianfrancesco F.

BMC Cancer. 2018 Apr 2;18(1):358. doi: 10.1186/s12885-018-4291-z. Review.


ZNF687 mutations are frequently found in pagetic patients from South Italy: implication in the pathogenesis of Paget's disease of bone.

Divisato G, Scotto di Carlo F, Petrillo N, Esposito T, Gianfrancesco F.

Clin Genet. 2018 Jun;93(6):1240-1244. doi: 10.1111/cge.13247. Epub 2018 Apr 11.


Autosomal-dominant myopia associated to a novel P4HA2 missense variant and defective collagen hydroxylation.

Napolitano F, Di Iorio V, Testa F, Tirozzi A, Reccia MG, Lombardi L, Farina O, Simonelli F, Gianfrancesco F, Di Iorio G, Melone MAB, Esposito T, Sampaolo S.

Clin Genet. 2018 May;93(5):982-991. doi: 10.1111/cge.13217. Epub 2018 Mar 5.


Identification of a novel locus on chromosome 2q13, which predisposes to clinical vertebral fractures independently of bone density.

Alonso N, Estrada K, Albagha OME, Herrera L, Reppe S, Olstad OK, Gautvik KM, Ryan NM, Evans KL, Nielson CM, Hsu YH, Kiel DP, Markozannes G, Ntzani EE, Evangelou E, Feenstra B, Liu X, Melbye M, Masi L, Brandi ML, Riches P, Daroszewska A, Olmos JM, Valero C, Castillo J, Riancho JA, Husted LB, Langdahl BL, Brown MA, Duncan EL, Kaptoge S, Khaw KT, Usategui-Martín R, Del Pino-Montes J, González-Sarmiento R, Lewis JR, Prince RL, D'Amelio P, García-Giralt N, Nogués X, Mencej-Bedrac S, Marc J, Wolstein O, Eisman JA, Oei L, Medina-Gómez C, Schraut KE, Navarro P, Wilson JF, Davies G, Starr J, Deary I, Tanaka T, Ferrucci L, Gianfrancesco F, Gennari L, Lucas G, Elosua R, Uitterlinden AG, Rivadeneira F, Ralston SH.

Ann Rheum Dis. 2018 Mar;77(3):378-385. doi: 10.1136/annrheumdis-2017-212469. Epub 2017 Nov 23.


Effect of genetic variants of OPTN in the pathophysiology of Paget's disease of bone.

Silva IAL, Conceição N, Gagnon É, Caiado H, Brown JP, Gianfrancesco F, Michou L, Cancela ML.

Biochim Biophys Acta Mol Basis Dis. 2018 Jan;1864(1):143-151. doi: 10.1016/j.bbadis.2017.10.008. Epub 2017 Oct 6.


The distinct clinical features of giant cell tumor of bone in pagetic and non-pagetic patients are associated with genetic, biochemical and histological differences.

Divisato G, Scotto di Carlo F, Pazzaglia L, Rizzo R, Coviello DA, Benassi MS, Picci P, Esposito T, Gianfrancesco F.

Oncotarget. 2017 Jun 27;8(38):63121-63131. doi: 10.18632/oncotarget.18670. eCollection 2017 Sep 8.


Identification of the first dominant mutation of LAMA5 gene causing a complex multisystem syndrome due to dysfunction of the extracellular matrix.

Sampaolo S, Napolitano F, Tirozzi A, Reccia MG, Lombardi L, Farina O, Barra A, Cirillo F, Melone MAB, Gianfrancesco F, Iorio GD, Esposito T.

J Med Genet. 2017 Oct;54(10):710-720. doi: 10.1136/jmedgenet-2017-104555. Epub 2017 Jul 22.


The mapping competences of the nurse Case/Care Manager in the context of Intensive Care.

Alfieri E, Ferrini AC, Gianfrancesco F, Lise G, Messana G, Tirelli L, Lorenzo A, Sarli L.

Acta Biomed. 2017 Mar 15;88(1S):69-75. doi: 10.23750/abm.v88i1 -S.6285.


Dysregulation of the Expression of Asparagine-Linked Glycosylation 13 Short Isoform 2 Affects Nephrin Function by Altering Its N-Linked Glycosylation.

Esposito T, De Stefano G, Reccia MG, Di Lorenzo I, Napolitano F, Scalabrì F, Lombardi A, Saleem MA, Griffiths LR, Gianfrancesco F.

Nephron. 2017;136(2):143-150. doi: 10.1159/000455129. Epub 2017 Feb 9.


Evidence for epistatic interaction between VDR and SLC13A2 genes in the pathogenesis of hypocitraturia in recurrent calcium oxalate stone formers.

Rendina D, De Filippo G, Gianfrancesco F, Muscariello R, Schiano di Cola M, Strazzullo P, Esposito T.

J Nephrol. 2017 Jun;30(3):411-418. doi: 10.1007/s40620-016-0348-8. Epub 2016 Sep 17.


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.


Hypovitaminosis D and organ damage in patients with arterial hypertension: a multicenter double blind randomised controlled trial of cholecalciferol supplementation (HYPODD) : study design, clinical procedures and treatment protocol.

Rendina D, Ippolito R, D'Elia L, Giacchetti G, Lonati C, Gianfrancesco F, Fallo F, Rebellato A, Ruggiero C, Rubattu S, Volpe M, Gennari L, Merlotti D, Isaia GC, D'Amelio P, Spertino E, Fabris B, Sechi LA, Catena C, Maresca AM, Gessi V, Dalbeni A, Strazzullo P.

High Blood Press Cardiovasc Prev. 2015 Jun;22(2):135-42. doi: 10.1007/s40292-015-0080-9. Epub 2015 Mar 14.


A novel GBE1 mutation and features of polyglucosan bodies autophagy in adult polyglucosan body disease.

Sampaolo S, Esposito T, Gianfrancesco F, Napolitano F, Lombardi L, Lucà R, Roperto F, Di Iorio G.

Neuromuscul Disord. 2015 Mar;25(3):247-52. doi: 10.1016/j.nmd.2014.11.006. Epub 2014 Nov 18.


Clinical characteristics and evolution of giant cell tumor occurring in Paget's disease of bone.

Rendina D, De Filippo G, Ralston SH, Merlotti D, Gianfrancesco F, Esposito T, Muscariello R, Nuti R, Strazzullo P, Gennari L.

J Bone Miner Res. 2015 Feb;30(2):257-63. doi: 10.1002/jbmr.2349.


Exclusion of TNFRSF11B as Candidate Gene for Otosclerosis in Campania Population.

Iossa S, Morello G, Esposito T, Corvino V, Giannini P, Salvato R, Cavaliere M, Panetti M, Panetti G, Piantedosi B, Gianfrancesco F, Marciano E, Franzè A.

Indian J Otolaryngol Head Neck Surg. 2014 Sep;66(3):297-301. doi: 10.1007/s12070-014-0706-6. Epub 2014 Jan 30.


Paget disease of bone-associated UBA domain mutations of SQSTM1 exert distinct effects on protein structure and function.

Goode A, Long JE, Shaw B, Ralston SH, Visconti MR, Gianfrancesco F, Esposito T, Gennari L, Merlotti D, Rendina D, Rea SL, Sultana M, Searle MS, Layfield R.

Biochim Biophys Acta. 2014 Jul;1842(7):992-1000. doi: 10.1016/j.bbadis.2014.03.006. Epub 2014 Mar 16.


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.


Imerslund-Gräsbeck syndrome in a 25-month-old Italian girl caused by a homozygous mutation in AMN.

De Filippo G, Rendina D, Rocco V, Esposito T, Gianfrancesco F, Strazzullo P.

Ital J Pediatr. 2013 Sep 17;39:58. doi: 10.1186/1824-7288-39-58. Review.


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.


Association of a GRIA3 gene polymorphism with migraine in an Australian case-control cohort.

Maher BH, Lea RA, Follett J, Cox HC, Fernandez F, Esposito T, Gianfrancesco F, Haupt LM, Griffiths LR.

Headache. 2013 Sep;53(8):1245-9. doi: 10.1111/head.12151. Epub 2013 Jun 14.


Unique X-linked familial FSGS with co-segregating heart block disorder is associated with a mutation in the NXF5 gene.

Esposito T, Lea RA, Maher BH, Moses D, Cox HC, Magliocca S, Angius A, Nyholt DR, Titus T, Kay T, Gray NA, Rastaldi MP, Parnham A, Gianfrancesco F, Griffiths LR.

Hum Mol Genet. 2013 Sep 15;22(18):3654-66. doi: 10.1093/hmg/ddt215. Epub 2013 May 16.


Common susceptibility alleles and SQSTM1 mutations predict disease extent and severity in a multinational study of patients with Paget's disease.

Albagha OM, Visconti MR, Alonso N, Wani S, Goodman K, Fraser WD, Gennari L, Merlotti D, Gianfrancesco F, Esposito T, Rendina D, di Stefano M, Isaia G, Brandi ML, Giusti F, Del Pino-Montes J, Corral-Gudino L, Gonzalez-Sarmiento R, Ward L, Rea SL, Ratajczak T, Walsh JP, Ralston SH.

J Bone Miner Res. 2013 Nov;28(11):2338-46. doi: 10.1002/jbmr.1975.


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.


A functional allelic variant of the FGF23 gene is associated with renal phosphate leak in calcium nephrolithiasis.

Rendina D, Esposito T, Mossetti G, De Filippo G, Gianfrancesco F, Perfetti A, Magliocca S, Formisano P, Prié D, Strazzullo P.

J Clin Endocrinol Metab. 2012 May;97(5):E840-4. doi: 10.1210/jc.2011-1528. Epub 2012 Mar 14.


Confirmation that Xq27 and Xq28 are susceptibility loci for migraine in independent pedigrees and a case-control cohort.

Maher BH, Kerr M, Cox HC, MacMillan JC, Brimage PJ, Esposito T, Gianfrancesco F, Haupt LM, Nyholt DR, Lea RA, Griffiths LR.

Neurogenetics. 2012 Feb;13(1):97-101. doi: 10.1007/s10048-011-0312-7.


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.


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.


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.


Genome-wide association identifies three new susceptibility loci for Paget's disease of bone.

Albagha OM, Wani SE, Visconti MR, Alonso N, Goodman K, Brandi ML, Cundy T, Chung PY, Dargie R, Devogelaer JP, Falchetti A, Fraser WD, Gennari L, Gianfrancesco F, Hooper MJ, Van Hul W, Isaia G, Nicholson GC, Nuti R, Papapoulos S, Montes Jdel P, Ratajczak T, Rea SL, Rendina D, Gonzalez-Sarmiento R, Di Stefano M, Ward LC, Walsh JP, Ralston SH; Genetic Determinants of Paget's Disease (GDPD) Consortium.

Nat Genet. 2011 May 29;43(7):685-9. doi: 10.1038/ng.845.


Comparison of intravenous and intramuscular neridronate regimens for the treatment of Paget disease of bone.

Merlotti D, Rendina D, Gennari L, Mossetti G, Gianfrancesco F, Martini G, De Filippo G, Avanzati A, Franci B, Campagna MS, Strazzullo P, Nuti R.

J Bone Miner Res. 2011 Mar;26(3):512-8. doi: 10.1002/jbmr.237.


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.


FSHR gene polymorphisms influence bone mineral density and bone turnover in postmenopausal women.

Rendina D, Gianfrancesco F, De Filippo G, Merlotti D, Esposito T, Mingione A, Nuti R, Strazzullo P, Mossetti G, Gennari L.

Eur J Endocrinol. 2010 Jul;163(1):165-72. doi: 10.1530/EJE-10-0043. Epub 2010 Mar 24.


SQSTM1 gene analysis and gene-environment interaction in Paget's disease of bone.

Gennari L, Gianfrancesco F, Di Stefano M, Rendina D, Merlotti D, Esposito T, Gallone S, Fusco P, Rainero I, Fenoglio P, Mancini M, Martini G, Bergui S, De Filippo G, Isaia G, Strazzullo P, Nuti R, Mossetti G.

J Bone Miner Res. 2010 Jun;25(6):1375-84. doi: 10.1002/jbmr.31.


Epidemiological, clinical, and genetic characteristics of Paget's disease of bone in a rural area of Calabria, Southern Italy.

Rendina D, Gianfrancesco F, De Filippo G, Merlotti D, Esposito T, Aloia A, Benvenuto D, Vivona CL, Annunziata G, Nuti R, Strazzullo P, Mossetti G, Gennari L.

J Endocrinol Invest. 2010 Sep;33(8):519-25. doi: 10.3275/6768. Epub 2009 Dec 22.


Bone turnover and the osteoprotegerin-RANKL pathway in tumor-induced osteomalacia: a longitudinal study of five cases.

Rendina D, De Filippo G, Tauchmanovà L, Insabato L, Muscariello R, Gianfrancesco F, Esposito T, Cioffi M, Colao A, Strazzullo P, Mossetti G.

Calcif Tissue Int. 2009 Oct;85(4):293-300. doi: 10.1007/s00223-009-9275-1. Epub 2009 Sep 10.


DDX11L: a novel transcript family emerging from human subtelomeric regions.

Costa V, Casamassimi A, Roberto R, Gianfrancesco F, Matarazzo MR, D'Urso M, D'Esposito M, Rocchi M, Ciccodicola A.

BMC Genomics. 2009 May 28;10:250. doi: 10.1186/1471-2164-10-250.


Association between antipsychotic combination therapy and treatment adherence among individuals with bipolar disorder.

Gianfrancesco FD, Sajatovic M, Tafesse E, Wang RH.

Ann Clin Psychiatry. 2009 Jan-Mar;21(1):3-16.


Potential bias in testing for hyperprolactinemia and pituitary tumors in risperidone-treated patients: a claims-based study.

Gianfrancesco FD, Pandina G, Mahmoud R, Wu J, Wang RH.

Ann Gen Psychiatry. 2009 Feb 11;8:5. doi: 10.1186/1744-859X-8-5.


De novo seven extra repeat expanded mutation in the PRNP gene in an Italian patient with early onset dementia.

Cannella M, Martino T, Simonelli M, Ciammola A, Gradini R, Ciarmiello A, Gianfrancesco F, Squitieri F.

BMJ Case Rep. 2009;2009. pii: bcr08.2008.0711. doi: 10.1136/bcr.08.2008.0711. Epub 2009 Feb 2.


Investigation of gamma-aminobutyric acid (GABA) A receptors genes and migraine susceptibility.

Fernandez F, Esposito T, Lea RA, Colson NJ, Ciccodicola A, Gianfrancesco F, Griffiths LR.

BMC Med Genet. 2008 Dec 16;9:109. doi: 10.1186/1471-2350-9-109.


Vitamin D receptor gene polymorphisms predict acquired resistance to clodronate treatment in patients with Paget's disease of bone.

Mossetti G, Gennari L, Rendina D, De Filippo G, Merlotti D, De Paola V, Fusco P, Esposito T, Gianfrancesco F, Martini G, Nuti R, Strazzullo P.

Calcif Tissue Int. 2008 Dec;83(6):414-24. doi: 10.1007/s00223-008-9193-7. Epub 2008 Nov 20.


The association between treatment adherence and antipsychotic dose among individuals with bipolar disorder.

Gianfrancesco FD, Sajatovic M, Rajagopalan K, Wang RH.

Int Clin Psychopharmacol. 2008 Nov;23(6):305-16. doi: 10.1097/YIC.0b013e32830b0f88.


Antipsychotic treatment adherence and associated mental health care use among individuals with bipolar disorder.

Gianfrancesco FD, Sajatovic M, Rajagopalan K, Wang RH.

Clin Ther. 2008 Jul;30(7):1358-74.


ZPLD1 gene is disrupted in a patient with balanced translocation that exhibits cerebral cavernous malformations.

Gianfrancesco F, Esposito T, Penco S, Maglione V, Liquori CL, Patrosso MC, Zuffardi O, Ciccodicola A, Marchuk DA, Squitieri F.

Neuroscience. 2008 Aug 13;155(2):345-9. doi: 10.1016/j.neuroscience.2008.05.030. Epub 2008 Jul 16.


Genetic variants of Y chromosome are associated with a protective lipid profile in black men.

Russo P, Siani A, Miller MA, Karanam S, Esposito T, Gianfrancesco F, Barba G, Lauria F, Strazzullo P, Cappuccio FP.

Arterioscler Thromb Vasc Biol. 2008 Aug;28(8):1569-74. doi: 10.1161/ATVBAHA.108.168641. Epub 2008 May 29.


ATP1A2 gene mutations are not present in two sisters with basilar-type migraine associated with menses.

Cologno D, d'Onofrio F, Esposito T, Gianfrancesco F, Petretta V, Casucci G, Frediani F, Buzzi MG, Bussone G.

Neurol Sci. 2008 Apr;29(2):113-5. doi: 10.1007/s10072-008-0870-0. Epub 2008 May 16.


Different spectra of genomic deletions within the CCM genes between Italian and American CCM patient cohorts.

Liquori CL, Penco S, Gault J, Leedom TP, Tassi L, Esposito T, Awad IA, Frati L, Johnson EW, Squitieri F, Marchuk DA, Gianfrancesco F.

Neurogenetics. 2008 Feb;9(1):25-31. Epub 2007 Dec 1.


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