|
🐜
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Mutations of the Wiskott-Aldrich Syndrome Protein (WASP): hotspots, effect on transcription, and translation and phenotype/genotype correlation.
11 auth.
C. Mazza,
J. Christie,
S. Giliani,
M. Fiorini,
P. Mella,
F. Gandellini,
...
D. Stewart,
Qili Zhu,
D. Nelson,
L. Notarangelo,
H. Ochs
|
8 |
2004 |
8
🐜
|
|
🐜
|
In-utero transplantation of parental CD34 haematopoietic progenitor cells in a patient with X-linked severe combined immunodeficiency (SCIDX1)
15 auth.
G. Wengler,
A. Lanfranchi,
T. Frusca,
R. Verardi,
A. Neva,
D. Brugnoni,
S. Giliani,
M. Fiorini,
P. Mella,
F. Guandalini,
...
E. Mazzolari,
L. Notarangelo,
S. Pecorelli,
F. Porta,
A. Ugazio
|
7 |
1996 |
7
🐜
|
|
🐜
|
Structural and functional basis for JAK3-deficient severe combined immunodeficiency.
17 auth.
F. Candotti,
Scott A Oakes,
J. Johnston,
S. Giliani,
R. Schumacher,
P. Mella,
M. Fiorini,
A. Ugazio,
R. Badolato,
L. Notarangelo,
...
F. Bozzi,
Paolo Macchi,
D. Strina,
P. Vezzoni,
R. Blaese,
J. O’Shea,
A. Villa
|
7 |
1997 |
7
🐜
|
|
🐜
|
Mutations in severe combined immune deficiency (SCID) due to JAK3 deficiency
8 auth.
L. Notarangelo,
P. Mella,
Alison L Jones,
G. de Saint Basile,
G. Savoldi,
T. Cranston,
...
M. Vihinen,
R. Schumacher
|
6 |
2001 |
6
🐜
|
|
🐜
|
Of genes and phenotypes: the immunological and molecular spectrum of combined immune deficiency.Defects of the gc‐JAK3 signaling pathway as a model
14 auth.
L. Notarangelo,
S. Giliani,
C. Mazza,
P. Mella,
G. Savoldi,
C. Rodriguez-Pérez,
E. Mazzolari,
M. Fiorini,
M. Duse,
A. Plebani,
...
A. Ugazio,
M. Vihinen,
F. Candotti,
R. Schumacher
|
6 |
2000 |
6
🐜
|
|
🐜
|
IN-UTERO TRANSPLANTATION OF PARENTAL CD34 HAEMATOPOIETIC PROGENITOR CELLS IN A PATIENT WITH X-LINKED SEVERE COMBINED IMMUNODEFICIENCY (SCIDXI)
15 auth.
G. Wengler,
A. Lanfranchi,
T. Frusca,
R. Verardi,
A. Neva,
D. Brugnoni,
S. Giliani,
M. Fiorini,
P. Mella,
F. Guandalini,
...
E. Mazzolari,
S. Pecorelli,
L. Notarangelo,
F. Porta,
A. Ugazio
|
6 |
1997 |
6
🐜
|
|
🐜
|
Common polymorphisms of the growth hormone (GH) receptor do not correlate with the growth response to exogenous recombinant human GH in GH-deficient children.
8 auth.
A. Pilotta,
P. Mella,
M. Filisetti,
B. Felappi,
E. Prandi,
G. Parrinello,
...
L. Notarangelo,
F. Buzi
|
6 |
2006 |
6
🐜
|
|
🐜
|
High prevalence of nonsense, frame shift, and splice-site mutations in 16 patients with full-blown Wiskott-Aldrich syndrome.
8 auth.
G. Wengler,
Luigi D. Notarangelo,
S. Berardelli,
G. Pollonni,
P. Mella,
Anders Fasth,
...
Alberto G. Ugazio,
O. Parolini
|
6 |
1995 |
6
🐜
|
|
🐜
|
Unexpected and variable phenotypes in a family with JAK3 deficiency
20 auth.
D. M. Frucht,
Massimo Gadina,
G. J. Jagadeesh,
Ivona Aksentijevich,
K. Takada,
J. Bleesing,
Joel W. Nelson,
Linda Muul,
G. Perham,
Grace G. Morgan,
...
Grace G. Morgan,
E. Gerritsen,
R. Schumacher,
P. Mella,
P. Veys,
Thomas A. Fleisher,
E. R. Kaminski,
L. D. Notarangelo,
John J. O'Shea,
Fabio Candotti
|
5 |
2001 |
5
🐜
|
|
🐜
|
Complete genomic organization of the human JAK3 gene and mutation analysis in severe combined immunodeficiency by single-strand conformation polymorphism
11 auth.
R. Schumacher,
P. Mella,
R. Badolato,
M. Fiorini,
G. Savoldi,
S. Giliani,
...
Anna Villa,
Fabio Candotti,
A. Tampalini,
John J. O'Shea,
L. Notarangelo
|
5 |
1999 |
5
🐜
|
