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Distinct disease phenotypes linked to different combinations of GAA mutations in a large late-onset GSDII sibship.
Published in:
Orphanet Journal of Rare Diseases, 2013, v. 8, n. 1, p. 1, doi. 10.1186/1750-1172-8-159
By:
- Sampaolo, Simone;
- Esposito, Teresa;
- Farina, Olimpia;
- Formicola, Daniela;
- Diodato, Daria;
- Gianfrancesco, Fernando;
- Cipullo, Federica;
- Cremone, Gaetana;
- Cirillo, Mario;
- Viscovo, Luca Del;
- Toscano, Antonio;
- Angelini, Corrado;
- Iorio, Giuseppe Di
Publication type:
Article
Digenic mutational inheritance of the integrin alpha 7 and the myosin heavy chain 7B genes causes congenital myopathy with left ventricular non-compact cardiomyopathy.
Published in:
Orphanet Journal of Rare Diseases, 2013, v. 8, n. 1, p. 1, doi. 10.1186/1750-1172-8-91
By:
- Esposito, Teresa;
- Sampaolo, Simone;
- Limongelli, Giuseppe;
- Varone, Antonio;
- Formicola, Daniela;
- Diodato, Daria;
- Farina, Olimpia;
- Napolitano, Filomena;
- Pacileo, Giuseppe;
- Gianfrancesco, Fernando;
- Di Iorio, Giuseppe
Publication type:
Article
Distinct disease phenotypes linked to different combinations of GAA mutations in a large late-onset GSDII sibship.
Published in:
2013
By:
- Sampaolo, Simone;
- Esposito, Teresa;
- Farina, Olimpia;
- Formicola, Daniela;
- Diodato, Daria;
- Gianfrancesco, Fernando;
- Cipullo, Federica;
- Cremone, Gaetana;
- Cirillo, Mario;
- Del Viscovo, Luca;
- Toscano, Antonio;
- Angelini, Corrado;
- Di Iorio, Giuseppe
Publication type:
journal article
Digenic mutational inheritance of the integrin alpha 7 and the myosin heavy chain 7B genes causes congenital myopathy with left ventricular non-compact cardiomyopathy.
Published in:
2013
By:
- Esposito, Teresa;
- Sampaolo, Simone;
- Limongelli, Giuseppe;
- Varone, Antonio;
- Formicola, Daniela;
- Diodato, Daria;
- Farina, Olimpia;
- Napolitano, Filomena;
- Pacileo, Giuseppe;
- Gianfrancesco, Fernando;
- Di Iorio, Giuseppe
Publication type:
journal article
Giant cell tumor occurring in familial Paget's disease of bone: Report of clinical characteristics and linkage analysis of a large pedigree.
Published in:
Journal of Bone & Mineral Research, 2013, v. 28, n. 2, p. 341, doi. 10.1002/jbmr.1750
By:
- Gianfrancesco, Fernando;
- Rendina, Domenico;
- Merlotti, Daniela;
- Esposito, Teresa;
- Amyere, Mustapha;
- Formicola, Daniela;
- Muscariello, Riccardo;
- De Filippo, Gianpaolo;
- Strazzullo, Pasquale;
- Nuti, Ranuccio;
- Vikkula, Mikka;
- Gennari, Luigi
Publication type:
Article
A nonsynonymous TNFRSF11A variation increases NFκB activity and the severity of Paget's disease.
Published in:
Journal of Bone & Mineral Research, 2012, v. 27, n. 2, p. 443, doi. 10.1002/jbmr.542
By:
- Gianfrancesco, Fernando;
- Rendina, Domenico;
- Di Stefano, Marco;
- Mingione, Alessandra;
- Esposito, Teresa;
- Merlotti, Daniela;
- Gallone, Salvatore;
- Magliocca, Sara;
- Goode, Alice;
- Formicola, Daniela;
- Morello, Giovanna;
- Layfield, Robert;
- Frattini, Annalisa;
- De Filippo, Gianpaolo;
- Nuti, Ranuccio;
- Searle, Mark;
- Strazzullo, Pasquale;
- Isaia, Giancarlo;
- Mossetti, Giuseppe;
- Gennari, Luigi
Publication type:
Article
PIEZO1 mutations impact on early clinical manifestations of myelodysplastic syndromes.
Published in:
American Journal of Hematology, 2023, v. 98, n. 4, p. E72, doi. 10.1002/ajh.26863
By:
- Attardi, Enrico;
- Andolfo, Immacolata;
- Russo, Roberta;
- Tiberi, Lucia;
- Raddi, Marco Gabriele;
- Rosato, Barbara Eleni;
- Marra, Roberta;
- Formicola, Daniela;
- Del Giudice, Federica;
- Brogi, Alice;
- Consagra, Angela;
- Amato, Cristina;
- Sanna, Alessandro;
- Artuso, Rosangela;
- Iolascon, Achille;
- Santini, Valeria
Publication type:
Article
piR_015520 Belongs to Piwi-Associated RNAs Regulates Expression of the Human Melatonin Receptor 1A Gene.
Published in:
PLoS ONE, 2011, v. 6, n. 7, p. 1, doi. 10.1371/journal.pone.0022727
By:
- Esposito, Teresa;
- Magliocca, Sara;
- Formicola, Daniela;
- Gianfrancesco, Fernando
Publication type:
Article
Kinome multigenic panel identified novel druggable EPHB4‐V871I somatic variant in high‐risk neuroblastoma.
Published in:
Journal of Cellular & Molecular Medicine, 2020, v. 24, n. 11, p. 6459, doi. 10.1111/jcmm.15297
By:
- Andolfo, Immacolata;
- Lasorsa, Vito A.;
- Manna, Francesco;
- Rosato, Barbara E.;
- Formicola, Daniela;
- Iolascon, Achille;
- Capasso, Mario
Publication type:
Article
The functional variant rs34330 of CDKN1B is associated with risk of neuroblastoma.
Published in:
Journal of Cellular & Molecular Medicine, 2017, v. 21, n. 12, p. 3224, doi. 10.1111/jcmm.13226
By:
- Capasso, Mario;
- McDaniel, Lee D.;
- Cimmino, Flora;
- Cirino, Andrea;
- Formicola, Daniela;
- Russell, Mike R.;
- Raman, Pichai;
- Cole, Kristina A.;
- Diskin, Sharon J.
Publication type:
Article
Neural crest-derived tumor neuroblastoma and melanoma share 1p13.2 as susceptibility locus that shows a long-range interaction with the SLC16A1 gene.
Published in:
Carcinogenesis, 2020, v. 41, n. 3, p. 284, doi. 10.1093/carcin/bgz153
By:
- Avitabile, Marianna;
- Succoio, Mariangela;
- Testori, Alessandro;
- Cardinale, Antonella;
- Vaksman, Zalman;
- Lasorsa, Vito Alessandro;
- Cantalupo, Sueva;
- Esposito, Matteo;
- Cimmino, Flora;
- Montella, Annalaura;
- Formicola, Daniela;
- Koster, Jan;
- Andreotti, Virginia;
- Ghiorzo, Paola;
- Romano, Maria Fiammetta;
- Staibano, Stefania;
- Scalvenzi, Massimiliano;
- Ayala, Fabrizio;
- Hakonarson, Hakon;
- Corrias, Maria Valeria
Publication type:
Article
Functional annotation and investigation of the 10q24.33 melanoma risk locus identifies a common variant that influences transcriptional regulation of OBFC1.
Published in:
Human Molecular Genetics, 2022, v. 31, n. 6, p. 863, doi. 10.1093/hmg/ddab293
By:
- Cardinale, Antonella;
- Cantalupo, Sueva;
- Lasorsa, Vito Alessandro;
- Montella, Annalaura;
- Cimmino, Flora;
- Succoio, Mariangela;
- Vermeulen, Michiel;
- Baltissen, Marijke P;
- Esposito, Matteo;
- Avitabile, Marianna;
- Formicola, Daniela;
- Testori, Alessandro;
- Bonfiglio, Ferdinando;
- Ghiorzo, Paola;
- Scalvenzi, Massimiliano;
- Ayala, Fabrizio;
- Zambrano, Nicola;
- Iles, Mark M;
- Xu, Mai;
- Law, Matthew H
Publication type:
Article
Fine mapping of 2q35 high‐risk neuroblastoma locus reveals independent functional risk variants and suggests full‐length BARD1 as tumor‐suppressor.
Published in:
International Journal of Cancer, 2018, v. 143, n. 11, p. 2828, doi. 10.1002/ijc.31822
By:
- Cimmino, Flora;
- Avitabile, Marianna;
- Diskin, Sharon J.;
- Vaksman, Zalman;
- Pignataro, Piero;
- Formicola, Daniela;
- Cardinale, Antonella;
- Testori, Alessandro;
- Koster, Jan;
- de Torres, Carmen;
- Devoto, Marcella;
- Maris, John M.;
- Iolascon, Achille;
- Capasso, Mario
Publication type:
Article
An 18 gene expression-based score classifier predicts the clinical outcome in stage 4 neuroblastoma.
Published in:
2016
By:
- Formicola, Daniela;
- Petrosino, Giuseppe;
- Lasorsa, Vito Alessandro;
- Pignataro, Piero;
- Cimmino, Flora;
- Vetrella, Simona;
- Longo, Luca;
- Tonini, Gian Paolo;
- Oberthuer, André;
- Iolascon, Achille;
- Fischer, Matthias;
- Capasso, Mario
Publication type:
journal article
The melatonin receptor 1A (MTNR1A) gene is associated with recurrent and idiopathic calcium nephrolithiasis.
Published in:
Nephrology Dialysis Transplantation, 2012, v. 27, n. 1, p. 210, doi. 10.1093/ndt/gfr216
By:
- Esposito, Teresa;
- Rendina, Domenico;
- Aloia, Andrea;
- Formicola, Daniela;
- Magliocca, Sara;
- De Filippo, Gianpaolo;
- Muscariello, Riccardo;
- Mossetti, Giuseppe;
- Gianfrancesco, Fernando;
- Strazzullo, Pasquale
Publication type:
Article
Dualistic Role of BARD1 in Cancer.
Published in:
Genes, 2017, v. 8, n. 12, p. 375, doi. 10.3390/genes8120375
By:
- Cimmino, Flora;
- Formicola, Daniela;
- Capasso, Mario
Publication type:
Article
A pathogenic variant in the FLCN gene presenting with pure dementia: is autophagy at the intersection between neurodegeneration and cancer?
Published in:
Frontiers in Neuroscience, 2024, p. 1, doi. 10.3389/fnins.2023.1304080
By:
- Bottillo, Irene;
- Laino, Luigi;
- Azzarà, Alessia;
- Lintas, Carla;
- Cassano, Ilaria;
- Di Lazzaro, Vincenzo;
- Ursini, Francesca;
- Motolese, Francesco;
- Bargiacchi, Simone;
- Formicola, Daniela;
- Grammatico, Paola;
- Gurrieri, Fiorella
Publication type:
Article
Common variants in the regulative regions ofGRIA1 and GRIA3 receptor genes are associatedwith migraine susceptibility.
Published in:
BMC Medical Genetics, 2010, v. 11, p. 103, doi. 10.1186/1471-2350-11-103
By:
- Formicola, Daniela;
- Aloia, Andrea;
- Sampaolo, Simone;
- Farina, Olimpia;
- Diodato, Daria;
- Griffiths, Lyn R.;
- Gianfrancesco, Fernando;
- Di Iorio, Giuseppe;
- Esposito, Teresa
Publication type:
Article

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