TeresaAEspositoDO

PubMed

• 12 citations
  Vacuolated PAS‐positive lymphocytes as an hallmark of Pompe disease and other myopathies related to impaired autophagy
  Angelo Pascarella, Chiara Terracciano, Olimpia Farina, Luca Lombardi, Teresa Esposito, Filomena Napolitano, Giuseppina Franzese, Giovanni Panella, Francesco Tuccillo, ...> ;Journal of Cellular Physiology. 2018 Aug 1
• 17 citations
  Autosomal-dominant myopia associated to a novel P4HA2 missense variant and defective collagen hydroxylation.
  Filomena Napolitano, V. Di Iorio, Francesco Testa, Alfonsina Tirozzi, Mafalda Giovanna Reccia, Luca Lombardi, Olimpia Farina, Francesca Simonelli, Fernando Gianfrances...> ;Clinical Genetics. 2018 May 1
• 7 citations
  The identification of H3F3A mutation in giant cell tumour of the clivus and the histological diagnostic algorithm of other clival lesions permit the differential diagn...
  Federica Scotto di Carlo, Giuseppina Divisato, Maurizio Iacoangeli, Teresa Esposito, Fernando Gianfrancesco> ;BMC Cancer. 2018 Apr 2
• 32 citations
  Identification of the first dominant mutation of LAMA5 gene causing a complex multisystem syndrome due to dysfunction of the extracellular matrix
  Simone Sampaolo, Filomena Napolitano, Alfonsina Tirozzi, Mafalda Giovanna Reccia, Luca Lombardi, Olimpia Farina, Adriano Barra, F. Cirillo, Mariarosa A. B. Melone, Fer...> ;Journal of Medical Genetics. 2017 Oct 1
• 6 citations
  Dysregulation of the Expression of Asparagine-Linked Glycosylation 13 Short Isoform 2 Affects Nephrin Function by Altering Its N-Linked Glycosylation
  Teresa Esposito, Giovanni De Stefano, Mafalda Giovanna Reccia, Ilaria Di Lorenzo, Filomena Napolitano, Francesco Scalabrì, Alessia Lombardi, Moin A. Saleem, Lyn R. Gri...> ;Nephron. 2017 Feb 9
• 3 citations
  Hormonal regulation and characterization of MHG30 gene, a desaturase-like gene of hamster harderian gland
  Teresa Esposito, Pasquale Tammaro, Giuseppe Paolisso, Bruno Varriale> ;The Journal of Steroid Biochemistry and Molecular Biology. 2015 Nov 1
• 29 citations
  Clinical Characteristics and Evolution of Giant Cell Tumor Occurring in Paget's Disease of Bone
  Domenico Rendina, Gianpaolo De Filippo, Stuart H. Ralston, Daniela Merlotti, Fernando Gianfrancesco, Teresa Esposito, Riccardo Muscariello, Ranuccio Nuti, Pasquale Str...> ;Journal of Bone and Mineral Research. 2015 Feb 1
• 9 citations
  A novel GBE1 mutation and features of polyglucosan bodies autophagy in Adult Polyglucosan Body Disease
  Simone Sampaolo, Teresa Esposito, Fernando Gianfrancesco, Filomena Napolitano, Luca Lombardi, Roberta De Luca, Franco Roperto, Giuseppe Di Iorio> ;Neuromuscular Disorders. 2015 Mar 1
• 22 citations
  Paget disease of bone-associated UBA domain mutations of SQSTM1 exert distinct effects on protein structure and function
  Alice Goode, Jed Long, Barry Shaw, Stuart H. Ralston, Micaela Rios Visconti, Fernando Gianfrancesco, Teresa Esposito, Luigi Gennari, Daniela Merlotti, Domenico Rendina...> ;Biochimica Et Biophysica Acta. 2014 Jul 1
• 12 citations
  Distinct disease phenotypes linked to different combinations of GAA mutations in a large late-onset GSDII sibship
  Simone Sampaolo, Teresa Esposito, Olimpia Farina, Daniela Formicola, Daria Diodato, Fernando Gianfrancesco, Federica Cipullo, Gaetana Cremone, Mario Cirillo, Luca Del ...> ;Orphanet Journal of Rare Diseases. 2013 Oct 10
• 19 citations
  Association of a GRIA3 gene polymorphism with migraine in an Australian case-control cohort.
  Bridget H. Maher, Rod A. Lea, Jordan Gary Follett, Hannah Cox, Francesca Fernandez, Teresa Esposito, Fernando Gianfrancesco, Larisa M. Haupt, Lyn R. Griffiths> ;Headache. 2013 Sep 1
• 38 citations
  Digenic mutational inheritance of the integrin alpha 7 and the myosin heavy chain 7B genes causes congenital myopathy with left ventricular non-compact cardiomyopathy
  Teresa Esposito, Simone Sampaolo, Giuseppe Limongelli, Antonio Varone, Daniela Formicola, Daria Diodato, Olimpia Farina, Filomena Napolitano, Giuseppe Pacileo, Fernand...> ;Orphanet Journal of Rare Diseases. 2013 Jun 21
• 20 citations
  Unique X-linked familial FSGS with co-segregating heart block disorder is associated with a mutation in the NXF5 gene
  Teresa Esposito, Rodney A. Lea, Bridget H. Maher, Dianne Moses, Hannah Cox, Sara Magliocca, Andrea Angius, Dale R. Nyholt, Thomas Titus, Troy Kay, Nicholas A Gray, Mar...> ;Human Molecular Genetics. 2013 May 16
• 37 citations
  Common susceptibility alleles and SQSTM1 mutations predict disease extent and severity in a multinational study of patients with Paget's disease.
  Omar M. E. Albagha, Micaela Rios Visconti, Nerea Alonso, Sachin Wani, Kirsteen Goodman, William D. Fraser, Luigi Gennari, Daniela Merlotti, Fernando Gianfrancesco, Ter...> ;Journal of Bone and Mineral Research. 2013 Nov 1
• 17 citations
  FMO3 allelic variants in Sicilian and Sardinian populations: trimethylaminuria and absence of fish-like body odor.
  Rosalia D'Angelo, Teresa Esposito, Marco Calabrò, Carmela Rinaldi, Renato Robledo, Bruno Varriale, Antonina Sidoti> ;Gene. 2013 Feb 25
• 13 citations
  Giant cell tumor occurring in familial Paget's disease of bone: report of clinical characteristics and linkage analysis of a large pedigree.
  Fernando Gianfrancesco, Domenico Rendina, Daniela Merlotti, Teresa Esposito, Mustapha Amyere, Daniela Formicola, Riccardo Muscariello, Gianpaolo De Filippo, Pasquale S...> ;Journal of Bone and Mineral Research. 2013 Feb 1
• 15 citations
  A functional allelic variant of the FGF23 gene is associated with renal phosphate leak in calcium nephrolithiasis.
  Domenico Rendina, Teresa Esposito, Giuseppe Mossetti, Gianpaolo De Filippo, Fernando Gianfrancesco, Anna Perfetti, Sara Magliocca, Pietro Formisano, Dominique Prié, Pa...> ;The Journal of Clinical Endocrinology and Metabolism. 2012 Mar 14
• 8 citations
  Confirmation that Xq27 and Xq28 are susceptibility loci for migraine in independent pedigrees and a case-control cohort
  Bridget H. Maher, M. Kerr, Hannah Cox, John MacMillan, Peter J. Brimage, Teresa Esposito, Fernando Gianfrancesco, Larisa M. Haupt, Dale R. Nyholt, Rodney A. Lea, Lyn R...> ;Neurogenetics. 2012 Feb 1
• 30 citations
  A nonsynonymous TNFRSF11A variation increases NFκB activity and the severity of Paget's disease.
  Fernando Gianfrancesco, Domenico Rendina, Marco Di Stefano, Alessandra Mingione, Teresa Esposito, Daniela Merlotti, Salvatore Gallone, Sara Magliocca, Alice Goode, Dan...> ;Journal of Bone and Mineral Research. 2012 Feb 1
• 20 citations
  The melatonin receptor 1A (MTNR1A) gene is associated with recurrent and idiopathic calcium nephrolithiasis
  Teresa Esposito, Domenico Rendina, A. Aloia, Daniela Formicola, Sara Magliocca, Gianpaolo De Filippo, Riccardo Muscariello, Giuseppe Mossetti, Fernando Gianfrancesco, ...> ;Nephrology, Dialysis, Transplantation. 2012 Jan 1
• 57 citations
  piR_015520 belongs to Piwi-associated RNAs regulates expression of the human melatonin receptor 1A gene.
  Teresa Esposito, Sara Magliocca, Daniela Formicola, Fernando Gianfrancesco> ;Plos One. 2011 Jul 26
• 69 citations
  FSHR gene polymorphisms influence bone mineral density and bone turnover in postmenopausal women
  Domenico Rendina, Fernando Gianfrancesco, Gianpaolo De Filippo, Daniela Merlotti, Teresa Esposito, Alessandra Mingione, Ranuccio Nuti, Pasquale Strazzullo, Giuseppe Mo...> ;European Journal of Endocrinology. 2010 Jul 1
• 38 citations
  Common variants in the regulative regions of GRIA1 and GRIA3 receptor genes are associated with migraine susceptibility
  Daniela Formicola, A. Aloia, Simone Sampaolo, Olimpia Farina, Daria Diodato, Lyn R. Griffiths, Fernando Gianfrancesco, Giuseppe Di Iorio, Teresa Esposito> ;BMC Medical Genetics. 2010 Jun 25
• 55 citations
  SQSTM1 gene analysis and gene-environment interaction in Paget's disease of bone
  Luigi Gennari, Fernando Gianfrancesco, Marco Di Stefano, Domenico Rendina, Daniela Merlotti, Teresa Esposito, Salvatore Gallone, Pina Fusco, Innocenzo Rainero, P Fenog...> ;Journal of Bone and Mineral Research. 2010 Jun 1
• 9 citations
  Epidemiological, clinical, and genetic characteristics of Paget's disease of bone in a rural area of Calabria, Southern Italy.
  Domenico Rendina, Fernando Gianfrancesco, G. De Filippo, Daniela Merlotti, Teresa Esposito, A. Aloia, Domenico Benvenuto, Carmen Liliana Vivona, G. Annunziata, R. Nuti...> ;Journal of Endocrinological Investigation. 2010 Sep 1
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