|
🦁
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Identification of a novel X-linked gene responsible for Emery-Dreifuss muscular dystrophy
7 auth.
S. Bione,
E. Maestrini,
S. Rivella,
M. Mancini,
S. Regis,
G. Romeo,
...
D. Toniolo
|
9 |
1994 |
9
🦁
|
|
🦁
|
A novel X-linked gene, G4.5. is responsible for Barth syndrome
S. Bione,
P. D’Adamo,
E. Maestrini,
A. Gedeon,
P. Bolhuis,
D. Toniolo
|
9 |
1996 |
9
🦁
|
|
🐜
|
Different mutations in the LMNA gene cause autosomal dominant and autosomal recessive Emery-Dreifuss muscular dystrophy.
18 auth.
M. R. D. Barletta,
E. Ricci,
G. Galluzzi,
P. Tonali,
M. Mora,
L. Morandi,
A. Romorini,
T. Voit,
K. Ørstavik,
L. Merlini,
...
C. Trevisan,
V. Biancalana,
Irena Housmanowa-Petrusewicz,
S. Bione,
R. Ricotti,
K. Schwartz,
Giselle Bonne,
D. Toniolo
|
8 |
2000 |
8
🐜
|
|
🦁
|
A human homologue of the Drosophila melanogaster diaphanous gene is disrupted in a patient with premature ovarian failure: evidence for conserved function in oogenesis and implications for human sterility.
12 auth.
S. Bione,
C. Sala,
Chiara Manzini,
G. Arrigo,
O. Zuffardi,
S. Banfi,
...
G. Borsani,
P. Jonveaux,
C. Philippe,
M. Zuccotti,
A. Ballabio,
D. Toniolo
|
8 |
1998 |
8
🦁
|
|
🐜
|
The X-linked gene G4.5 is responsible for different infantile dilated cardiomyopathies.
15 auth.
P. D’Adamo,
L. Fassone,
A. Gedeon,
E. Janssen,
S. Bione,
P. Bolhuis,
P. Barth,
M. Wilson,
E. Haan,
K. Örstavik,
...
M. Patton,
A. J. Green,
E. Zammarchi,
M. Donati,
D. Toniolo
|
7 |
1997 |
7
🐜
|
|
🐜
|
A family of transmembrane proteins with homology to the MET-hepatocyte growth factor receptor.
10 auth.
E. Maestrini,
L. Tamagnone,
P. Longati,
O. Cremona,
Massimo Gulisano,
S. Bione,
...
F. Tamanini,
B. Neel,
D. Toniolo,
P. Comoglio
|
7 |
1996 |
7
🐜
|
|
🐜
|
Influence of intermediate and uninterrupted FMR1 CGG expansions in premature ovarian failure manifestation.
8 auth.
B. Bodega,
S. Bione,
Leda Dalprá,
D. Toniolo,
F. Ornaghi,
W. Vegetti,
...
Enrico Ginelli,
A. Marozzi
|
7 |
2006 |
7
🐜
|
|
🐜
|
BMP15 mutations associated with primary ovarian insufficiency cause a defective production of bioactive protein
9 auth.
R. Rossetti,
E. Di Pasquale,
A. Marozzi,
S. Bione,
D. Toniolo,
P. Grammatico,
...
L. Nelson,
P. Beck‐Peccoz,
L. Persani
|
7 |
2009 |
7
🐜
|
|
🐜
|
Alterations in the expression, structure and function of progesterone receptor membrane component-1 (PGRMC1) in premature ovarian failure.
14 auth.
M. Mansouri,
J. Schuster,
J. Badhai,
Eva-Lena Stattin,
R. Lösel,
M. Wehling,
B. Carlsson,
O. Hovatta,
P. Karlström,
I. Golovleva,
...
D. Toniolo,
S. Bione,
J. Peluso,
N. Dahl
|
7 |
2008 |
7
🐜
|
|
🐜
|
Chromosomal rearrangements in Xq and premature ovarian failure: mapping of 25 new cases and review of the literature.
10 auth.
F. Rizzolio,
S. Bione,
C. Sala,
M. Goegan,
M. Gentile,
G. Gregato,
...
E. Rossi,
T. Pramparo,
O. Zuffardi,
D. Toniolo
|
6 |
2006 |
6
🐜
|
|
🦁
|
Mutation analysis of two candidate genes for premature ovarian failure, DACH2 and POF1B.
18 auth.
S. Bione,
F. Rizzolio,
C. Sala,
R. Ricotti,
M. Goegan,
M. C. Manzini,
R. Battaglia,
A. Marozzi,
W. Vegetti,
L. Dalprà,
...
P. Crosignani,
E. Ginelli,
R. Nappi,
S. Bernabini,
V. Bruni,
F. Torricelli,
O. Zuffardi,
D. Toniolo
|
6 |
2004 |
6
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|
