Sfoglia per Autore
Congenital bilateral absence of vas deferens with a new missense mutation (P499A) in the CFTR gene.
1998-01-01 ARDUINO C ;FERRONE M ;BRUSCO A ;GARNERONE S ;FONTANA D ;ROLLE L ;CARBONARA AO
Polyvariant mutant CFTR genes in patients with chronic pancreatitis.
1999-01-01 ARDUINO C ;GALLO M ;BRUSCO A ;GARNERONE S ;PIANA MR ;DI MAGGIO S ;GERBINO PROMIS G ;FERRONE M ;ANGELI A ;GAIA E
Molecular genetic analysis of von Hippel-Lindau disease by denaturing high-performance liquid chromatography.
2001-01-01 MENEGATTI E ;FERRONE M ;GALLONE S ;MAMELI M ;GROSSO E ;MIGONE N
Mutations in the POLG1 gene are not a relevant cause of cerebellar ataxia in Italy
2008-01-01 CAGNOLI C; BRUSSINO A; DI GREGORIO E; CAROPPO P; STOLA S; DRAGONE E; FERRONE M; PADOVAN S; MIGONE N; ORSI L; BRUSCO A
Spinocerebellar ataxia type 12 identified in two Italian families
2009-01-01 Brussino A; Graziano C; Giobbe D; Dragone E; Ferrone M; Lodi R; Tonon C; Gabellino AS; Rinaldi R; Miccoli S; Grosso E; Bellati MC; Orsi L; Migone N; Brusco A
Spinocerebellar ataxia type 12 identified in two italian families may mimic sporadic ataxia
2010-01-01 Brussino A; Graziano C; Giobbe D; Ferrone M.M.T.; Dragone E; Arduino C; Lodi R; Tonon C; Gabellino AS; Rinaldi R; Miccoli S; Grosso E; Bellati MC; Orsi L; Migone N; Brusco A
SCA Tethering-PCR: A Rapid Genetic Test for the Diagnosis of SCA1-3, 6, and 7 by PCR and Capillary Electrophoresis
2018-01-01 Cagnoli, Claudia; Brussino, Alessandro; Mancini, Cecilia; Ferrone, Marina; Orsi, Laura; Salmin, Paola; Pappi, Patrizia; Giorgio, Elisa; Pozzi, Elisa; Cavalieri, Simona; Di Gregorio, Eleonora; Ferrero, Marta; Filla, Alessandro; De Michele, Giuseppe; Gellera, Cinzia; Mariotti, Caterina; Nethisinghe, Suran; Giunti, Paola; Stevanin, Giovanni; Brusco, Alfredo
ATXN2 intermediate repeat expansions influence the clinical phenotype in frontotemporal dementia
2019-01-01 Rubino E, Mancini C, Boschi S, Ferrero P, Ferrone M, Bianca S, Zucca M, Orsi L, Pinessi L4 Govone F, Vacca A, Gai A, Giordana MT, Brusco A, Rainero I.
Titolo | Data di pubblicazione | Autore(i) | File |
---|---|---|---|
Congenital bilateral absence of vas deferens with a new missense mutation (P499A) in the CFTR gene. | 1998 | ARDUINO C ;FERRONE M ;BRUSCO A ;GARNERONE S ;FONTANA D ;ROLLE L ;CARBONARA AO | |
Polyvariant mutant CFTR genes in patients with chronic pancreatitis. | 1999 | ARDUINO C ;GALLO M ;BRUSCO A ;GARNERONE S ;PIANA MR ;DI MAGGIO S ;GERBINO PROMIS G ;FERRONE M ;ANGELI A ;GAIA E | |
Molecular genetic analysis of von Hippel-Lindau disease by denaturing high-performance liquid chromatography. | 2001 | MENEGATTI E ;FERRONE M ;GALLONE S ;MAMELI M ;GROSSO E ;MIGONE N | |
Mutations in the POLG1 gene are not a relevant cause of cerebellar ataxia in Italy | 2008 | CAGNOLI C; BRUSSINO A; DI GREGORIO E; CAROPPO P; STOLA S; DRAGONE E; FERRONE M; PADOVAN S; MIGONE N; ORSI L; BRUSCO A | |
Spinocerebellar ataxia type 12 identified in two Italian families | 2009 | Brussino A; Graziano C; Giobbe D; Dragone E; Ferrone M; Lodi R; Tonon C; Gabellino AS; Rinaldi R; Miccoli S; Grosso E; Bellati MC; Orsi L; Migone N; Brusco A | |
Spinocerebellar ataxia type 12 identified in two italian families may mimic sporadic ataxia | 2010 | Brussino A; Graziano C; Giobbe D; Ferrone M.M.T.; Dragone E; Arduino C; Lodi R; Tonon C; Gabellino AS; Rinaldi R; Miccoli S; Grosso E; Bellati MC; Orsi L; Migone N; Brusco A | |
SCA Tethering-PCR: A Rapid Genetic Test for the Diagnosis of SCA1-3, 6, and 7 by PCR and Capillary Electrophoresis | 2018 | Cagnoli, Claudia; Brussino, Alessandro; Mancini, Cecilia; Ferrone, Marina; Orsi, Laura; Salmin, Paola; Pappi, Patrizia; Giorgio, Elisa; Pozzi, Elisa; Cavalieri, Simona; Di Gregorio, Eleonora; Ferrero, Marta; Filla, Alessandro; De Michele, Giuseppe; Gellera, Cinzia; Mariotti, Caterina; Nethisinghe, Suran; Giunti, Paola; Stevanin, Giovanni; Brusco, Alfredo | |
ATXN2 intermediate repeat expansions influence the clinical phenotype in frontotemporal dementia | 2019 | Rubino E, Mancini C, Boschi S, Ferrero P, Ferrone M, Bianca S, Zucca M, Orsi L, Pinessi L4 Govone F, Vacca A, Gai A, Giordana MT, Brusco A, Rainero I. |
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