Increased release and activity of matrix metalloproteinase-9 in patients with mandibuloacral dysplasia type A, a rare premature ageing syndrome
Lombardi, F, Fasciglione, GF, D'Apice, MR, Vielle, A, D'Adamo, M, Sbraccia, P, Marini, S, Borgiani, P, Coletta, M, Novelli, G
Published in Clinical genetics (01.10.2008)
Published in Clinical genetics (01.10.2008)
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Different prelamin A forms accumulate in human fibroblasts: a study in experimental models and progeria
Dominici, S, Fiori, V, Magnani, M, Schena, E, Capanni, C, Camozzi, D, D'Apice, M R, Le Dour, C, Auclair, M, Caron, M, Novelli, G, Vigouroux, C, Maraldi, N M, Lattanzi, G
Published in European journal of histochemistry (01.01.2009)
Published in European journal of histochemistry (01.01.2009)
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Journal Article
Mandibuloacral dysplasia: A premature ageing disease with aspects of physiological ageing
Cenni, Vittoria, D'Apice, Maria Rosaria, Garagnani, Paolo, Columbaro, Marta, Novelli, Giuseppe, Franceschi, Claudio, Lattanzi, Giovanna
Published in Ageing research reviews (01.03.2018)
Published in Ageing research reviews (01.03.2018)
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Journal Article
Autophagic degradation of farnesylated prelamin A as a therapeutic approach to lamin-linked progeria
Cenni, V, Capanni, C, Columbaro, M, Ortolani, M, D'Apice, M R, Novelli, G, Fini, M, Marmiroli, S, Scarano, E, Maraldi, N M, Squarzoni, S, Prencipe, S, Lattanzi, G
Published in European journal of histochemistry (19.10.2011)
Published in European journal of histochemistry (19.10.2011)
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Journal Article
Mandibuloacral Dysplasia Is Caused by a Mutation in LMNA-Encoding Lamin A/C
Novelli, Giuseppe, Muchir, Antoine, Sangiuolo, Federica, Helbling-Leclerc, Anne, D’Apice, Maria Rosaria, Massart, Catherine, Capon, Francesca, Sbraccia, Paolo, Federici, Massimo, Lauro, Renato, Tudisco, Cosimo, Pallotta, Rosanna, Scarano, Gioacchino, Dallapiccola, Bruno, Merlini, Luciano, Bonne, Gisèle
Published in American journal of human genetics (01.08.2002)
Published in American journal of human genetics (01.08.2002)
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Variation in a Repeat Sequence Determines Whether a Common Variant of the Cystic Fibrosis Transmembrane Conductance Regulator Gene Is Pathogenic or Benign
Groman, Joshua D., Hefferon, Timothy W., Casals, Teresa, Bassas, Lluís, Estivill, Xavier, Des Georges, Marie, Guittard, Caroline, Koudova, Monika, Fallin, M. Daniele, Nemeth, Krisztina, Fekete, Gyorgy, Kadasi, Ludovit, Friedman, Ken, Schwarz, Martin, Bombieri, Cristina, Pignatti, Pier Franco, Kanavakis, Emmanuel, Tzetis, Maria, Schwartz, Marianne, Novelli, Giuseppe, D’Apice, Maria Rosaria, Sobczynska-Tomaszewska, Agnieszka, Bal, Jerzy, Stuhrmann, Manfred, Macek, Milan, Claustres, Mireille, Cutting, Garry R.
Published in American journal of human genetics (01.01.2004)
Published in American journal of human genetics (01.01.2004)
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Alterations of nuclear envelope and chromatin organization in mandibuloacral dysplasia, a rare form of laminopathy
Filesi, Ilaria, Gullotta, Francesca, Lattanzi, Giovanna, D'Apice, Maria Rosaria, Capanni, Cristina, Nardone, Anna Maria, Columbaro, Marta, Scarano, Gioacchino, Mattioli, Elisabetta, Sabatelli, Patrizia, Maraldi, Nadir M, Biocca, Silvia, Novelli, Giuseppe
Published in Physiological genomics (17.10.2005)
Published in Physiological genomics (17.10.2005)
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Characterisation of mutations in 77 patients with X-linked myotubular myopathy, including a family with a very mild phenotype
BIANCALANA, Valérie, CARON, Olivier, MANDEL, Jean-Louis, GALLATI, Sabina, BAAS, Frank, KRESS, Wolfram, NOVELLI, Giuseppe, D'APICE, Maria Rosaria, LAGIER-TOURENNE, Clotilde, BUJ-BELLO, Anna, ROMERO, Norma B
Published in Human genetics (01.02.2003)
Published in Human genetics (01.02.2003)
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Journal Article
Somatic and gonadal mosaicism in Hutchinson–Gilford progeria
Wuyts, Wim, Biervliet, Martine, Reyniers, Edwin, D'Apice, Maria Rosaria, Novelli, Giuseppe, Storm, Katrien
Published in American journal of medical genetics. Part A (15.05.2005)
Published in American journal of medical genetics. Part A (15.05.2005)
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All-trans retinoic acid and rapamycin normalize Hutchinson Gilford progeria fibroblast phenotype
Pellegrini, Camilla, Columbaro, Marta, Capanni, Cristina, D'Apice, Maria Rosaria, Cavallo, Carola, Murdocca, Michela, Lattanzi, Giovanna, Squarzoni, Stefano
Published in Oncotarget (06.10.2015)
Published in Oncotarget (06.10.2015)
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Paternal origin of LMNA mutations in Hutchinson-Gilford progeria
D'Apice, MR, Tenconi, R, Mammi, I, Ende, J van den, Novelli, G
Published in Clinical genetics (01.01.2004)
Published in Clinical genetics (01.01.2004)
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Journal Article
CARD15 mutation analysis in an Italian population. Leu1007fsinsC but neither Arg702Trp nor Gly908Arg mutations are associated with Crohn's disease
Vavassori, Piero, Borgiani, Paola, Biancone, Livia, D'Apice, Maria Rosaria, Blanco, Giovanna Del Vecchio, Vallo, Laura, De Nigris, Francesca, Monteleone, Ivan, Monteleone, Giovanni, Pallone, Francesco, Novelli, Giuseppe
Published in Inflammatory bowel diseases (01.03.2004)
Published in Inflammatory bowel diseases (01.03.2004)
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Atypical Progeroid Syndrome due to Heterozygous Missense LMNA Mutations
Garg, Abhimanyu, Subramanyam, Lalitha, Agarwal, Anil K, Simha, Vinaya, Levine, Benjamin, D'Apice, Maria Rosaria, Novelli, Giuseppe, Crow, Yanick
Published in The journal of clinical endocrinology and metabolism (01.12.2009)
Published in The journal of clinical endocrinology and metabolism (01.12.2009)
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Journal Article
Exclusion of CARD15/NOD2 as a candidate susceptibility gene to psoriasis in the Italian population
Borgiani, Paola, Vallo, Laura, D'Apice, Maria Rosaria, Giardina, Emiliano, Pucci, Sabina, Capon, Francesca, Nisticò, Steven, Chimenti, Sergio, Pallone, Francesco, Novelli, Giuseppe
Published in EJD. European journal of dermatology (01.11.2002)
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Published in EJD. European journal of dermatology (01.11.2002)
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3020insC mutation within the NOD2 gene in Crohn's disease: frequency and association with clinical pattern in an Italian population
Vavassori, P., Borgiani, P., D'Apice, M.R., De Nigris, F., Del Vecchio Blanco, G., Monteleone, I., Biancone, L., Novelli, G., Pallone, F.
Published in Digestive and liver disease (01.02.2002)
Published in Digestive and liver disease (01.02.2002)
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Toward the pharmacogenomics of cystic fibrosis - an update
Sangiuolo, Federica, D'Apice, Maria Rosaria, Gambardella, Stefano, Di Daniele, Nicola, Novelli, Giuseppe
Published in Pharmacogenomics (01.10.2004)
Published in Pharmacogenomics (01.10.2004)
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Journal Article
Segregation analysis in cystic fibrosis at-risk family demonstrates that the M348K CFTR mutation is a rare innocuous polymorphism
D'Apice, Maria Rosaria, Gambardella, Stefano, Russo, Silvia, Lucidi, Vincenzina, Nardone, Anna Maria, Pietropolli, Adalgisa, Novelli, Giuseppe
Published in Prenatal diagnosis (15.12.2004)
Published in Prenatal diagnosis (15.12.2004)
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Analysis of TNF-alpha promoter polymorphisms in the susceptibility to beryllium hypersensitivity
Dotti, Chiara, D'Apice, Maria Rosaria, Rogliani, Paola, Novelli, Giuseppe, Saltini, Cesare, Amicosante, Massimo
Published in Sarcoidosis, vasculitis, and diffuse lung diseases (01.03.2004)
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Published in Sarcoidosis, vasculitis, and diffuse lung diseases (01.03.2004)
Journal Article
Different prelamin A forms accumulate in human fibroblasts: a study in experimental models and progeria
Dominici, S, Fiori, V, Magnani, M, Schena, E, Capanni, C, Camozzi, D, D'Apice, M R, Le Dour, C, Auclair, M, Caron, M, Novelli, G, Vigouroux, C, Maraldi, N M, Lattanzi, G
Published in European journal of histochemistry (31.03.2009)
Published in European journal of histochemistry (31.03.2009)
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