19952019

Research output per year

If you made any changes in Pure these will be visible here soon.

Research Output

Filter
Article
2019

FAS-mediated apoptosis impairment in patients with ALPS/ALPS-like phenotype carrying variants on CASP10 gene

Miano, M., Cappelli, E., Pezzulla, A., Venè, R., Grossi, A., Terranova, P., Palmisani, E., Maggiore, R., Guardo, D., Lanza, T., Calvillo, M., Micalizzi, C., Pierri, F., Vernarecci, C., Beccaria, A., Corsolini, F., Lanciotti, M., Russo, G., Ceccherini, I., Dufour, C. & 1 others, Fioredda, F., 2019, In : British Journal of Haematology. 187, 4, p. 502-508 7 p.

Research output: Contribution to journalArticle

FAS-mediated apoptosis impairment in patients with ALPS/ALPS-like phenotype carrying variants on CASP10 gene

Miano, M., Cappelli, E., Pezzulla, A., Venè, R., Grossi, A., Terranova, P., Palmisani, E., Maggiore, R., Guardo, D., Lanza, T., Calvillo, M., Micalizzi, C., Pierri, F., Vernarecci, C., Beccaria, A., Corsolini, F., Lanciotti, M., Russo, G., Ceccherini, I., Dufour, C. & 1 others, Fioredda, F., 2019, In : British Journal of Haematology. 187, 4, p. 502-508 7 p.

Research output: Contribution to journalArticle

Two further patients with Warsaw breakage syndrome. Is a mild phenotype possible?

Bottega, R., Napolitano, L. M. R., Carbone, A., Cappelli, E., Corsolini, F., Onesti, S., Savoia, A., Gasparini, P. & Faletra, F., May 2019, In : Molecular Genetics and Genomic Medicine. 7, 5, e639.

Research output: Contribution to journalArticle

Open Access

Two further patients with Warsaw breakage syndrome. Is a mild phenotype possible?

Bottega, R., Napolitano, L. M. R., Carbone, A., Cappelli, E., Corsolini, F., Onesti, S., Savoia, A., Gasparini, P. & Faletra, F., 2019, In : Molecular Genetics and Genomic Medicine. 7, 5

Research output: Contribution to journalArticle

2018

Hypomorphic FANCA mutations correlate with mild mitochondrial and clinical phenotype in Fanconi anemia

Bottega, R., Nicchia, E., Cappelli, E., Ravera, S., De Rocco, D., Faleschini, M., Corsolini, F., Pierri, F., Calvillo, M., Russo, G., Casazza, G., Ramenghi, U., Farruggia, P., Dufour, C. & Savoia, A., Mar 2018, In : Haematologica. 103, 3, p. 417-426 10 p.

Research output: Contribution to journalArticle

Hypomorphic FANCA mutations correlate with mild mitochondrial and clinical phenotype in Fanconi anemia

Bottega, R., Nicchia, E., Cappelli, E., Ravera, S., De Rocco, D., Faleschini, M., Corsolini, F., Pierri, F., Calvillo, M., Russo, G., Casazza, G., Ramenghi, U., Farruggia, P., Dufour, C. & Savoia, A., Feb 28 2018, In : Haematologica. 103, 3, p. 417-426 10 p.

Research output: Contribution to journalArticle

Hypomorphic FANCA mutations correlate with mild mitochondrial and clinical phenotype in Fanconi anemia

Bottega, R., Nicchia, E., Cappelli, E., Ravera, S., De Rocco, D., Faleschini, M., Corsolini, F., Pierri, F., Calvillo, M., Russo, G., Casazza, G., Ramenghi, U., Farruggia, P., Dufour, C. & Savoia, A., 2018, In : Haematologica. 103, 3, p. 417-426 10 p.

Research output: Contribution to journalArticle

2017

In vitro recapitulation of the site-specific editing (to wild-type) of mutant IDS mRNA transcripts, and the characterization of IDS protein translated from the edited mRNAs

Lualdi, S., Del Zotto, G., Zegarra-Moran, O., Pedemonte, N., Corsolini, F., Bruschi, M., Tomati, V., Amico, G., Candiano, G., Dardis, A., Cooper, D. N. & Filocamo, M., Jul 2017, In : Human Mutation. 38, 7, p. 849-862 14 p.

Research output: Contribution to journalArticle

2016

Evaluation of energy metabolism and calcium homeostasis in cells affected by Shwachman-Diamond syndrome

Ravera, S., Dufour, C., Cesaro, S., Bottega, R., Faleschini, M., Cuccarolo, P., Corsolini, F., Usai, C., Columbaro, M., Cipolli, M., Savoia, A., Degan, P. & Cappelli, E., May 5 2016, In : Scientific Reports. 6, 25441.

Research output: Contribution to journalArticle

Evaluation of energy metabolism and calcium homeostasis in cells affected by Shwachman-Diamond syndrome

Ravera, S., Dufour, C., Cesaro, S., Bottega, R., Faleschini, M., Cuccarolo, P., Corsolini, F., Usai, C., Columbaro, M., Cipolli, M., Savoia, A., Degan, P. & Cappelli, E., May 5 2016, In : Scientific Reports. 6, 12 p., 25441.

Research output: Contribution to journalArticle

Evaluation of energy metabolism and calcium homeostasis in cells affected by Shwachman-Diamond syndrome

Ravera, S., Dufour, C., Cesaro, S., Bottega, R., Faleschini, M., Cuccarolo, P., Corsolini, F., Usai, C., Columbaro, M., Cipolli, M., Savoia, A., Degan, P. & Cappelli, E., May 5 2016, In : Scientific Reports. 6, 25441.

Research output: Contribution to journalArticle

Evaluation of energy metabolism and calcium homeostasis in cells affected by Shwachman-Diamond syndrome

Ravera, S., Dufour, C., Cesaro, S., Bottega, R., Faleschini, M., Cuccarolo, P., Corsolini, F., Usai, C., Columbaro, M., Cipolli, M., Savoia, A., Degan, P. & Cappelli, E., May 5 2016, In : Scientific Reports. 6, 25441.

Research output: Contribution to journalArticle

Somatic, hematologic phenotype, long-term outcome, and effect of hematopoietic stem cell transplantation. An analysis of 97 Fanconi anemia patients from the Italian national database on behalf of the Marrow Failure Study Group of the AIEOP (Italian Association of Pediatric Hematology–Oncology)

Svahn, J., Bagnasco, F., Cappelli, E., Onofrillo, D., Caruso, S., Corsolini, F., De Rocco, D., Savoia, A., Longoni, D., Pillon, M., Marra, N., Ramenghi, U., Farruggia, P., Locasciulli, A., Addari, C., Cerri, C., Mastrodicasa, E., Casazza, G., Verzegnassi, F., Riccardi, F. & 5 others, Haupt, R., Barone, A., Cesaro, S., Cugno, C. & Dufour, C., Jul 1 2016, In : American Journal of Hematology. 91, 7, p. 666-671 6 p.

Research output: Contribution to journalArticle

Somatic, hematologic phenotype, long-term outcome, and effect of hematopoietic stem cell transplantation. An analysis of 97 Fanconi anemia patients from the Italian national database on behalf of the Marrow Failure Study Group of the AIEOP (Italian Association of Pediatric Hematology–Oncology)

Svahn, J., Bagnasco, F., Cappelli, E., Onofrillo, D., Caruso, S., Corsolini, F., De Rocco, D., Savoia, A., Longoni, D., Pillon, M., Marra, N., Ramenghi, U., Farruggia, P., Locasciulli, A., Addari, C., Cerri, C., Mastrodicasa, E., Casazza, G., Verzegnassi, F., Riccardi, F. & 5 others, Haupt, R., Barone, A., Cesaro, S., Cugno, C. & Dufour, C., Jul 1 2016, In : American Journal of Hematology. 91, 7, p. 666-671 6 p.

Research output: Contribution to journalArticle

Somatic, hematologic phenotype, long-term outcome, and effect of hematopoietic stem cell transplantation. An analysis of 97 Fanconi anemia patients from the Italian national database on behalf of the Marrow Failure Study Group of the AIEOP (Italian Association of Pediatric Hematology–Oncology)

Svahn, J., Bagnasco, F., Cappelli, E., Onofrillo, D., Caruso, S., Corsolini, F., De Rocco, D., Savoia, A., Longoni, D., Pillon, M., Marra, N., Ramenghi, U., Farruggia, P., Locasciulli, A., Addari, C., Cerri, C., Mastrodicasa, E., Casazza, G., Verzegnassi, F., Riccardi, F. & 5 others, Haupt, R., Barone, A., Cesaro, S., Cugno, C. & Dufour, C., Jul 1 2016, In : American Journal of Hematology. 91, 7, p. 666-671 6 p.

Research output: Contribution to journalArticle

2015

P38 mitogen-activated protein kinase inhibition enhances invitro erythropoiesis of Fanconi anemia, complementation group A-deficient bonemarrow cells

Svahn, J., Lanza, T., Rathbun, K., Bagby, G., Ravera, S., Corsolini, F., Pistorio, A., Longoni, D., Farruggia, P., Dufour, C. & Cappelli, E., Apr 1 2015, In : Experimental Hematology. 43, 4, p. 295-299 5 p.

Research output: Contribution to journalArticle

2014

Further genotype-phenotype correlation emerging from two families with PLP1 exon 4 skipping

Biancheri, R., Grossi, S., Regis, S., Rossi, A., Corsolini, F., Rossi, D. P., Cavalli, P., Severino, M. & Filocamo, M., Mar 2014, In : Clinical Genetics. 85, 3, p. 267-272 6 p.

Research output: Contribution to journalArticle

Molecular analysis of Fanconi anemia: The experience of the bone marrow failure study group of the Italian Association of Pediatric Onco-Hematology

De Rocco, D., Bottega, R., Cappelli, E., Cavani, S., Criscuolo, M., Nicchia, E., Corsolini, F., Greco, C., Borriello, A., Svahn, J., Pillon, M., Mecucci, C., Casazza, G., Verzegnassi, F., Cugno, C., Locasciulli, A., Farruggia, P., Longoni, D., Ramenghi, U., Barberi, W. & 7 others, Tucci, F., Perrotta, S., Grammatico, P., Hanenberg, H., Ragione, F. D., Dufour, C. & Savoia, A., Jun 1 2014, In : Haematologica. 99, 6, p. 1022-1031 10 p.

Research output: Contribution to journalArticle

2013

Fanconi anemia patients are more susceptible to infection with tumor virus SV40

Comar, M., De Rocco, D., Cappelli, E., Zanotta, N., Bottega, R., Svahn, J., Farruggia, P., Misuraca, A., Corsolini, F., Dufour, C. & Savoia, A., Nov 18 2013, In : PLoS One. 8, 11, e79683.

Research output: Contribution to journalArticle

Immunological profile of Fanconi anemia: A multicentric retrospective analysis of 61 patients

Korthof, E. T., Svahn, J., de Latour, R. P., Terranova, P., Moins-Teisserenc, H., Socié, G., Soulier, J., Kok, M., Bredius, R. G. M., van Tol, M., Jol-van der Zijde, E. C. M., Pistorio, A., Corsolini, F., Parodi, A., Battaglia, F., Pistoia, V., Dufour, C. & Cappelli, E., Jun 2013, In : American Journal of Hematology. 88, 6, p. 472-476 5 p.

Research output: Contribution to journalArticle

2011

Molecular Genetic Analysis of the PLP1 Gene in 38 Families with PLP1-related disorders: Identification and Functional Characterization of 11 Novel PLP1 Mutations

Grossi, S., Regis, S., Biancheri, R., Mort, M., Lualdi, S., Bertini, E., Uziel, G., Boespflug-Tanguy, O., Simonati, A., Corsolini, F., Demir, E., Marchiani, V., Percesepe, A., Stanzial, F., Rossi, A., Vaurs-Barrière, C., Cooper, D. N. & Filocamo, M., 2011, In : Orphanet Journal of Rare Diseases. 6, 1, 40.

Research output: Contribution to journalArticle

2010

Enigmatic in vivo iduronate-2-sulfatase (IDS) mutant transcript correction to wild-type in hunter syndrome

Lualdi, S., Tappino, B., Di Duca, M., Dardis, A., Anderson, C. J., Biassoni, R., Thompson, P. W., Corsolini, F., Di Rocco, M., Bembi, B., Regis, S., Cooper, D. N. & Filocamo, M., Apr 2010, In : Human Mutation. 31, 4

Research output: Contribution to journalArticle

Identification and characterization of 15 novel GALC gene mutations causing Krabbe disease

Tappino, B., Biancheri, R., Mort, M., Regis, S., Corsolini, F., Rossi, A., Stroppiano, M., Lualdi, S., Fiumara, A., Bembi, B., Di Rocco, M., Cooper, D. N. & Filocamo, M., Dec 2010, In : Human Mutation. 31, 12

Research output: Contribution to journalArticle

2009

Molecular analysis of NPC1 and NPC2 gene in 34 Niemann-Pick C Italian Patients: Identification and structural modeling of novel mutations

Fancello, T., Dardis, A., Rosano, C., Tarugi, P., Tappino, B., Zampieri, S., Pinotti, E., Corsolini, F., Fecarotta, S., D'Amico, A., Di Rocco, M., Uziel, G., Calandra, S., Bembi, B. & Filocamo, M., Jul 2009, In : Neurogenetics. 10, 3, p. 229-239 11 p.

Research output: Contribution to journalArticle

Molecular characterization of 22 novel UDP-N-acetylglucosamine-1-phosphate transferase α- and β-subunit (GNPTAB) gene mutations causing mucolipidosis types IIα/β and IIIα/β in 46 patients

Tappino, B., Chuzhanova, N. A., Regis, S., Dardis, A., Corsolini, F., Stroppiano, M., Tonoli, E., Beccari, T., Rosano, C., Mucha, J., Blanco, M., Szlago, M., Di Rocco, M., Cooper, D. N. & Filocamo, M., Nov 2009, In : Human Mutation. 30, 11

Research output: Contribution to journalArticle

2008
2007

GFAP mutations and polymorphisms in 13 unrelated Italian patients affected by Alexander disease

Caroli, F., Biancheri, R., Seri, M., Rossi, A., Pessagno, A., Bugiani, M., Corsolini, F., Savasta, S., Romano, A., Antonelli, C., Romano, A., Pareyson, D., Gambero, P., Uziel, G., Ravazzolo, R., Ceccherini, I. & Filocamo, M., Nov 2007, In : Clinical Genetics. 72, 5, p. 427-433 7 p.

Research output: Contribution to journalArticle

2006

Somatic intragenic recombination of the arylsulfatase A gene in a metachromatic leukodystrophy patient

Regis, S., Lualdi, S., Biffi, A., Sessa, M., Corsolini, F., Parenti, G. & Filocamo, M., Sep 2006, In : Molecular Genetics and Metabolism. 89, 1-2, p. 150-155 6 p.

Research output: Contribution to journalArticle

2005

Familial nonrandom inactivation linked to the X inactivation centre in heterozygotes manifesting haemophilia A

Bicocchi, M. P., Migeon, B. R., Pasino, M., Lanza, T., Bottini, F., Boeri, E., Molinari, A. C., Corsolini, F., Morerio, C. & Acquila, M., May 2005, In : European Journal of Human Genetics. 13, 5, p. 635-640 6 p.

Research output: Contribution to journalArticle

Homozygosity for the p.K136E mutation in the SLC17A5 gene as cause of an Italian severe Salla disease

Biancheri, R., Rossi, A., Verbeek, H. A., Schot, R., Corsolini, F., Assereto, S., Mancini, G. M. S., Verheijen, F. W., Minetti, C. & Filocamo, M., Dec 2005, In : Neurogenetics. 6, 4, p. 195-199 5 p.

Research output: Contribution to journalArticle

Molecular analysis of the HEXA gene in Italian patients with infantile and late onset Tay-Sachs disease: detection of fourteen novel alleles.

Montalvo, A. L., Filocamo, M., Vlahovicek, K., Dardis, A., Lualdi, S., Corsolini, F., Bembi, B. & Pittis, M. G., Sep 2005, In : Human Mutation. 26, 3, p. 282 1 p.

Research output: Contribution to journalArticle

2004

Screening of 25 Italian patients with Niemann-Pick A reveals fourteen new mutations, one common and thirteen private, in SMPD1.

Ricci, V., Stroppiano, M., Corsolini, F., Di Rocco, M., Parenti, G., Regis, S., Grossi, S., Biancheri, R., Mazzotti, R. & Filocamo, M., Jul 2004, In : Human Mutation. 24, 1, p. 105 1 p.

Research output: Contribution to journalArticle

2003

Expression studies of two novel in CIS-mutations identified in an intermediate case of Hunter syndrome

Ricci, V., Filocamo, M., Regis, S., Corsolini, F., Stroppiano, M., Di Duca, M. & Gatti, R., Jul 1 2003, In : American Journal of Medical Genetics. 120 A, 1, p. 84-87 4 p.

Research output: Contribution to journalArticle

2002

Analysis of the glucocerebrosidase gene and mutation profile in 144 Italian gaucher patients.

Filocamo, M., Mazzotti, R., Stroppiano, M., Seri, M., Giona, F., Parenti, G., Regis, S., Corsolini, F., Zoboli, S. & Gatti, R., Sep 2002, In : Human Mutation. 20, 3, p. 234-235 2 p.

Research output: Contribution to journalArticle

2001

La diagnosi molecolare nelle malattie lisosomiali

Translated title of the contribution: Molecular analysis of lysosomal storage diseaseFilocamo, M., Stroppiano, M., Regis, S., Mazzotti, R., Corsolini, F. & Bonuccelli, G., 2001, In : Gaslini. 33, 1, p. 75-83 9 p.

Research output: Contribution to journalArticle

Molecular analysis of 40 Italian patients with mucopolysaccharidosis type II: New mutations in the iduronate-2-sulfatase (IDS) gene.

Filocamo, M., Bonuccelli, G., Corsolini, F., Mazzotti, R., Cusano, R. & Gatti, R., Aug 2001, In : Human Mutation. 18, 2, p. 164-165 2 p.

Research output: Contribution to journalArticle

Prenatal diagnosis of Pelizaeus-Merzbacher disease: Detection of proteolipid protein gene duplication by quantitative fluorescent multiplex PCR

Regis, S., Filocamo, M., Mazzotti, R., Cusano, R., Corsolini, F., Bonuccelli, G., Stroppiano, M. & Gatti, R., 2001, In : Prenatal Diagnosis. 21, 8, p. 668-671 4 p.

Research output: Contribution to journalArticle