Works by Grasso, Maurizia

Results: 16

A novel mutation of the glomulin gene in an Italian family with autosomal dominant cutaneous glomuvenous malformations.
Published in:
Experimental Dermatology, 2011, v. 20, n. 12, p. 1032, doi. 10.1111/j.1600-0625.2011.01387.x
By:
- Borroni, Riccardo G.;
- Narula, Nupoor;
- Diegoli, Marta;
- Grasso, Maurizia;
- Concardi, Monica;
- Rosso, Renato;
- Cerica, Alessandra;
- Brazzelli, Valeria;
- Arbustini, Eloisa
Publication type:
Article
Glomuvenous malformations with smooth muscle and eccrine glands: unusual histopathologic features in a familial setting.
Published in:
Journal of Cutaneous Pathology, 2014, v. 41, n. 3, p. 308, doi. 10.1111/cup.12283
By:
- Borroni, Riccardo G.;
- Grassi, Sara;
- Concardi, Monica;
- Puccio, Ignazio;
- Giordano, Calogero;
- Agozzino, Manuela;
- Caspani, Clelia;
- Grasso, Maurizia;
- Diegoli, Marta;
- Arbustini, Eloisa
Publication type:
Article
Identification of sixty-two novel and twelve known FBN1 mutations in eighty-one unrelated probands with Marfan syndrome and other fibrillinopathies.
Published in:
Human Mutation, 2005, v. 26, n. 5, p. 494, doi. 10.1002/humu.9377
By:
- Arbustini, Eloisa;
- Grasso, Maurizia;
- Ansaldi, Silvia;
- Malattia, Clara;
- Pilotto, Andrea;
- Porcu, Emanuele;
- Disabella, Eliana;
- Marziliano, Nicola;
- Pisani, Angela;
- Lanzarini, Luca;
- Mannarino, Savina;
- Larizza, Daniela;
- Mosconi, Mario;
- Antoniazzi, Elena;
- Zoia, M. Cristina;
- Meloni, Giulia;
- Magrassi, Lorenzo;
- Brega, Agnese;
- Bedeschi, Maria Francesca;
- Torrente, Isabella
Publication type:
Article
Pathologic Findings at Risk Reducing Surgery in BRCA and Non- BRCA Mutation Carriers: A Single-Center Experience.
Published in:
Diagnostics (2075-4418), 2022, v. 12, n. 12, p. 3054, doi. 10.3390/diagnostics12123054
By:
- Cassani, Chiara;
- Rossi, Chiara;
- Camnasio, Cristina Angela;
- Urtis, Mario;
- Fiandrino, Giacomo;
- Grasso, Maurizia;
- Zanellini, Francesca;
- Lucioni, Marco;
- D'Ambrosio, Gioacchino;
- Di Toro, Alessandro;
- Rossi, Margherita;
- Roccio, Marianna;
- Ferrari, Alberta;
- Secondino, Simona;
- Nappi, Rossella Elena;
- Arbustini, Eloisa;
- Paulli, Marco;
- Spinillo, Arsenio;
- Cesari, Stefania
Publication type:
Article
Unambiguous Interpretation of the Pathogenicity of the GLA c.547+3A>G Variant Causing Fabry Disease.
Published in:
Genes, 2024, v. 15, n. 9, p. 1212, doi. 10.3390/genes15091212
By:
- Urtis, Mario;
- Cavaliere, Claudia;
- Vilardo, Viviana;
- Paganini, Chiara;
- Smirnova, Alexandra;
- Giorgianni, Carmelina;
- Di Toro, Alessandro;
- Chiapparini, Luisa;
- Pellegrini, Carlo;
- Grasso, Maurizia;
- Arbustini, Eloisa
Publication type:
Article
Myocardial iron grading by endomyocardial biopsy. A clinico-pathologic study on iron overloaded patients.
Published in:
European Journal of Haematology, 1989, v. 42, n. 4, p. 382, doi. 10.1111/j.1600-0609.1989.tb01229.x
By:
- Barosi, Giovanni;
- Arbustini, Eloisa;
- Gavazzi, Antonello;
- Grasso, Maurizia;
- Pucci, Angela
Publication type:
Article
Genome-wide association analysis in dilated cardiomyopathy reveals two new players in systolic heart failure on chromosomes 3p25.1 and 22q11.23.
Published in:
European Heart Journal, 2021, v. 42, n. 20, p. 2000, doi. 10.1093/eurheartj/ehab030
By:
- Garnier, Sophie;
- Harakalova, Magdalena;
- Weiss, Stefan;
- Mokry, Michal;
- Regitz-Zagrosek, Vera;
- Hengstenberg, Christian;
- Cappola, Thomas P;
- Isnard, Richard;
- Arbustini, Eloisa;
- Cook, Stuart A;
- Setten, Jessica van;
- Calis, Jorg J A;
- Hakonarson, Hakon;
- Morley, Michael P;
- Stark, Klaus;
- Prasad, Sanjay K;
- Li, Jin;
- O'Regan, Declan P;
- Grasso, Maurizia;
- Müller-Nurasyid, Martina
Publication type:
Article
RE: BRCA2 Polymorphic Stop Codon K3326X and the Risk of Breast, Prostate, and Ovarian Cancers.
Published in:
2016
By:
- Arbustini, Eloisa;
- Sgarella, Adele;
- Ferrari, Alberta;
- Grasso, Donatella;
- Cassani, Chiara;
- Lucioni, Marco;
- Di Giulio, Giuseppe;
- Grasso, Maurizia
Publication type:
Letter
Incomplete penetrance of GLMN gene c.395-1G>C mutation in a family with glomuvenous malformations.
Published in:
International Journal of Dermatology, 2014, v. 53, n. 11, p. 1362, doi. 10.1111/ijd.12588
By:
- Borroni, Riccardo G.;
- Grasso, Maurizia;
- Arbustini, Eloisa;
- Grassi, Sara;
- Diegoli, Marta
Publication type:
Article
Incomplete penetrance of GLMN gene c.395–1G>C mutation in a family with glomuvenous malformations.
Published in:
International Journal of Dermatology, 2014, v. 53, n. 6, p. 1, doi. 10.1111/ijd.12588
By:
- Borroni, Riccardo G.;
- Grassi, Sara;
- Diegoli, Marta;
- Grasso, Maurizia;
- Arbustini, Eloisa
Publication type:
Article
Two novel and one known mutation of the TGFBR2 gene in Marfan syndrome not associated with FBN1 gene defects.
Published in:
European Journal of Human Genetics, 2006, v. 14, n. 1, p. 34, doi. 10.1038/sj.ejhg.5201502
By:
- Disabella, Eliana;
- Grasso, Maurizia;
- Marziliano, Nicola;
- Ansaldi, Silvia;
- Lucchelli, Claudia;
- Porcu, Emanuele;
- Tagliani, Marilena;
- Pilotto, Andrea;
- Diegoli, Marta;
- Lanzarini, Luca;
- Malattia, Clara;
- Pelliccia, Antonio;
- Ficcadenti, Anna;
- Gabrielli, Orazio;
- Arbustini, Eloisa
Publication type:
Article
The mitochondrial DNA mutation T12297C affects a highly conserved nucleotide of tRNA<sup>Leu(CUN)</sup> and is associated with dilated cardiomyopathy.
Published in:
European Journal of Human Genetics, 2001, v. 9, n. 4, p. 311, doi. 10.1038/sj.ejhg.5200622
By:
- Grasso, Maurizia;
- Diegoli, Marta;
- Brega, Agnese;
- Campana, Carlo;
- Tavazzi, Luigi;
- Arbustini, Eloisa
Publication type:
Article
Atrial amyloid deposits in the failing human heart display both atrial and brain natriuretic peptide-like immunoreactivity.
Published in:
Journal of Pathology, 1991, v. 165, n. 3, p. 235, doi. 10.1002/path.1711650307
By:
- Pucci, Angela;
- Wharton, John;
- Arbustini, Eloisa;
- Grasso, Maurizia;
- Diegoli, Marta;
- Needleman, Philip;
- Viganò, Mario;
- Polak, Julia M.
Publication type:
Article
Gender-specific differences in major cardiac events and mortality in lamin A/C mutation carriers.
Published in:
2013
By:
- van Rijsingen, Ingrid A W;
- Nannenberg, Eline A;
- Arbustini, Eloisa;
- Elliott, Perry M;
- Mogensen, Jens;
- Hermans-van Ast, Johanna F;
- van der Kooi, Anneke J;
- van Tintelen, J Peter;
- van den Berg, Maarten P;
- Grasso, Maurizia;
- Serio, Alessandra;
- Jenkins, Sharon;
- Rowland, Camilla;
- Richard, Pascale;
- Wilde, Arthur A M;
- Perrot, Andreas;
- Pankuweit, Sabine;
- Zwinderman, Aeilko H;
- Charron, Philippe;
- Christiaans, Imke
Publication type:
Journal Article
Gender-specific differences in major cardiac events and mortality in lamin A/C mutation carriers.
Published in:
European Journal of Heart Failure, 2013, v. 15, n. 4, p. 376, doi. 10.1093/eurjhf/hfs191
By:
- Rijsingen, Ingrid A.W.;
- Nannenberg, Eline A.;
- Arbustini, Eloisa;
- Elliott, Perry M.;
- Mogensen, Jens;
- Hermans ‐ van Ast, Johanna F.;
- Kooi, Anneke J.;
- Tintelen, J. Peter;
- Berg, Maarten P.;
- Grasso, Maurizia;
- Serio, Alessandra;
- Jenkins, Sharon;
- Rowland, Camilla;
- Richard, Pascale;
- Wilde, Arthur A.M.;
- Perrot, Andreas;
- Pankuweit, Sabine;
- Zwinderman, Aeilko H.;
- Charron, Philippe;
- Christiaans, Imke
Publication type:
Article
Desmin accumulation restrictive cardiomyopathy and atrioventricular block associated with desmin gene defects
Published in:
European Journal of Heart Failure, 2006, v. 8, n. 5, p. 477, doi. 10.1016/j.ejheart.2005.11.003
By:
- Arbustini, Eloisa;
- Pasotti, Michele;
- Pilotto, Andrea;
- Pellegrini, Carlo;
- Grasso, Maurizia;
- Previtali, Stefano;
- Repetto, Alessandra;
- Bellini, Ornella;
- Azan, Gaetano;
- Scaffino, Manuela;
- Campana, Carlo;
- Piccolo, Giovanni;
- Viganò, Mario;
- Tavazzi, Luigi
Publication type:
Article