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Showing results 1 to 13 of 13
Issue DateTitleAuthor(s)
2006alphaB-crystallin mutation in dilated cardiomyopathies: low prevalence in a consecutive series of 200 unrelated probandsPilotto A; Marziliano N; Pasotti M; Grasso M; Costante AM; Arbustini E
2007Analysis of ENG and ACVRL1 genes in 137 HHT Italian families identifies 76 different mutations (24 novel) Comparison with other European studiesOlivieri C; Pagella F; Semino L; Lanzarini L; Valacca C; Pilotto A; Corno S; Scappaticci S; Manfredi G; Buscarini E; Danesino C
2007Barth syndrome associated with compound hemizygosity and heterozygosity of the TAZ and LDB3 genesMarziliano N; Mannarino S; Nespoli L; Diegoli M; Pasotti M; Malattia C; Grasso M; Pilotto A; Porcu E; Raisaro A; Raineri C; Dore R; Maggio PP; Brega A; Arbustini E
2006Deletion of Glu at codon 13 of the TCAP gene encoding the titin-cap-telethonin is a rare polymorphism in a large italian populationMarziliano N; Pilotto A; Grasso M; Pasotti M; Arbustini E
2006Desmin accumulation restrictive cardiomyopathy and atrioventricular block associated with desmin gene defectsArbustini E; Pasotti M; Pilotto A; Pellegrini C; Grasso M; Previtali S; Repetto A; Bellini O; Azan G; Scaffino M; Campana C; Piccolo G; Vigano M; Tavazzi L
2005Gene symbol: CMD1A Disease: Dilated cardiomyopathy associated with conduction system diseaseArbustini E; Pasotti M; Pilotto A; Repetto A; Grasso M; Diegoli M
2007Gene symbol: LDB3 in dilated cardiomyopathyArbustini E; Rossi ML; Marziliano N; Presbitero P; Pilotto A; Pasotti M; Grasso M
2007Gene symbol: LDB3 in Dilated cardiomyopathyArbustini E; Rossi ML; Marziliano N; Presbitero P; Pilotto A; Pasotti M; Grasso M
2007Gene symbol: LMNA Emery-Dreifuss Muscular Distrophy (EDMD)Arbustini E; Pasotti M; Pilotto A; Grasso M; Porcu E; Tocco G; Marziliano N
2007Gene symbol: LMNA in atrio-ventricular block (AVB) in dilated cardiomyopathyArbustini E; Pasotti M; Pilotto A; Grasso M; Tagliani M; Lucchelli C; Campana C; Chiriatti G; Marziliano N; Landolina M
2007Gene symbol: LMNA in Dilated cardiomyopathy (DCM)Arbustini E; Pasotti M; Pilotto A; Diegoli M; Brega A; Disabella E; Grasso M; Marziliano N
2005Identification of sixty-two novel and twelve known FBN1 mutations in eighty-one unrelated probands with Marfan syndrome and other fibrillinopathiesArbustini E; Grasso M; Ansaldi S; Malattia C; Pilotto A; Porcu E; Disabella E; Marziliano N; Pisani A; Lanzarini L; Mannarino S; Larizza D; Mosconi M; Antoniazzi E; Zoia MC; Meloni G; Magrassi L; Brega A; Bedeschi MF; Torrente I; Mari F; Tavazzi L
2006Two novel and one known mutation of the TGFBR2 gene in Marfan syndrome not associated with FBN1 gene defectsDisabella E; Grasso M; Marziliano N; Ansaldi S; Lucchelli C; Porcu E; Tagliani M; Pilotto A; Diegoli M; Lanzarini L; Malattia C; Pelliccia A; Ficcadenti A; Gabrielli O; Arbustini E
Showing results 1 to 13 of 13

 

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