|
🐜
|
Increased sensitivity to peroxidative agents as a possible pathogenic factor of melanocyte damage in vitiligo.
8 auth.
V. Maresca,
Maria Roccella,
F. Roccella,
E. Camera,
G. Del Porto,
S. Passi,
...
P. Grammatico,
M. Picardo
|
8 |
1997 |
8
🐜
|
|
🐜
|
Germline missense mutations affecting KRAS Isoform B are associated with a severe Noonan syndrome phenotype.
14 auth.
C. Carta,
F. Pantaleoni,
G. Bocchinfuso,
L. Stella,
I. Vasta,
A. Sarkozy,
C. Digilio,
A. Palleschi,
A. Pizzuti,
P. Grammatico,
...
G. Zampino,
B. Dallapiccola,
B. Gelb,
M. Tartaglia
|
7 |
2006 |
7
🐜
|
|
🐜
|
Spectrum of hemojuvelin gene mutations in 1q-linked juvenile hemochromatosis.
14 auth.
Carmela Lanzara,
A. Roetto,
F. Daraio,
Silvain Rivard,
R. Ficarella,
H. Simard,
T. Cox,
M. Cazzola,
A. Piperno,
A. Gimenez-Roqueplo,
...
P. Grammatico,
S. Volinia,
P. Gasparini,
C. Camaschella
|
7 |
2004 |
7
🐜
|
|
🐢
|
Natural history and manifestations of the hypermobility type Ehlers–Danlos syndrome: A pilot study on 21 patients
7 auth.
M. Castori,
F. Camerota,
C. Celletti,
C. Danese,
V. Santilli,
V. Saraceni,
...
P. Grammatico
|
7 |
2010 |
7
🐢
|
|
🐜
|
Mutations in KCNH1 and ATP6V1B2 cause Zimmermann-Laband syndrome
23 auth.
F. Kortüm,
V. Caputo,
C. Bauer,
L. Stella,
A. Ciolfi,
M. Alawi,
G. Bocchinfuso,
E. Flex,
S. Paolacci,
M. Dentici,
...
P. Grammatico,
G. Korenke,
V. Leuzzi,
D. Mowat,
L. D. Nair,
T. Nguyen,
P. Thierry,
S. White,
B. Dallapiccola,
A. Pizzuti,
Philippe M. Campeau,
M. Tartaglia,
K. Kutsche
|
7 |
2015 |
7
🐜
|
|
🐢
|
Syndromic true hermaphroditism due to an R‐spondin1 (RSPO1) homozygous mutation
13 auth.
Sara Tomaselli,
F. Megiorni,
C. De Bernardo,
A. Felici,
G. Marrocco,
G. Maggiulli,
B. Grammatico,
D. Remotti,
P. Saccucci,
Felipe Valentini,
...
M. C. Mazzilli,
S. Majore,
P. Grammatico
|
7 |
2008 |
7
🐢
|
|
🐢
|
Management of pain and fatigue in the joint hypermobility syndrome (a.k.a. Ehlers–Danlos syndrome, hypermobility type): Principles and proposal for a multidisciplinary approach
8 auth.
M. Castori,
S. Morlino,
C. Celletti,
M. Celli,
A. Morrone,
M. Colombi,
...
F. Camerota,
P. Grammatico
|
7 |
2012 |
7
🐢
|
|
🐜
|
Re‐writing the natural history of pain and related symptoms in the joint hypermobility syndrome/Ehlers–Danlos syndrome, hypermobility type
8 auth.
M. Castori,
S. Morlino,
C. Celletti,
G. Ghibellini,
Michela Bruschini,
P. Grammatico,
...
C. Blundo,
F. Camerota
|
7 |
2013 |
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
🐜
|
|
🐜
|
Cancer risk associated with STK11/LKB1 germline mutations in Peutz-Jeghers syndrome patients: results of an Italian multicenter study.
30 auth.
N. Resta,
D. Pierannunzio,
G. M. Lenato,
A. Stella,
R. Capocaccia,
R. Bagnulo,
P. Lastella,
F. Susca,
C. Bozzao,
D. Loconte,
C. Sabbà,
E. Urso,
P. Sala,
M. Fornasarig,
P. Grammatico,
...
A. Piepoli,
Cristina Host,
D. Turchetti,
A. Viel,
L. Memo,
L. Giunti,
V. Stigliano,
L. Varesco,
L. Bertario,
M. Genuardi,
E. Lucci Cordisco,
M. Tibiletti,
C. di Gregorio,
A. Andriulli,
M. Ponz de Leòn
|
7 |
2013 |
7
🐜
|
|
🐜
|
Melanoma prone families with CDK4 germline mutation: phenotypic profile and associations with MC1R variants
33 auth.
H. Puntervoll,
Xiaohong R. Yang,
H. Vetti,
Ingeborg M. Bachmann,
M. Avril,
M. Benfodda,
C. Catricalà,
S. Dalle,
A. Duval-Modeste,
P. Ghiorzo,
P. Grammatico,
M. Harland,
N. Hayward,
Hui‐Han Hu,
T. Jouary,
...
T. Martin‐Denavit,
A. Ozola,
J. Palmer,
L. Pastorino,
D. Pjanova,
N. Soufir,
S. Steine,
A. Stratigos,
L. Thomas,
J. Tinat,
H. Tsao,
Rūta Veinalde,
M. Tucker,
B. Bressac-de Paillerets,
J. Newton-Bishop,
A. Goldstein,
L. Akslen,
A. Molven
|
7 |
2013 |
7
🐜
|
