R Ravazzolo
R Ravazzolo
Professore di Genetica, Università di Genova, Istituto G. Gaslini
Bestätigte E-Mail-Adresse bei unige.it
Zitiert von
Zitiert von
TMEM16A, a membrane protein associated with calcium-dependent chloride channel activity
A Caputo, E Caci, L Ferrera, N Pedemonte, C Barsanti, E Sondo, U Pfeffer, ...
Science 322 (5901), 590-594, 2008
Mirror extreme BMI phenotypes associated with gene dosage at the chromosome 16p11. 2 locus
S Jacquemont, A Reymond, F Zufferey, L Harewood, RG Walters, ...
Nature 478 (7367), 97-102, 2011
Mutations in MYH9 result in the May-Hegglin anomaly, and Fechtner and Sebastian syndromes
M Seri, R Cusano, S Gangarossa, G Caridi, D Bordo, CL Nigro, ...
Nature genetics 26 (1), 103-105, 2000
MYH9-related disease: May-Hegglin anomaly, Sebastian syndrome, Fechtner syndrome, and Epstein syndrome are not distinct entities but represent a variable expression of a single …
M Seri, A Pecci, F Di Bari, R Cusano, M Savino, E Panza, A Nigro, P Noris, ...
Medicine 82 (3), 203-215, 2003
Mutations in MTMR13, a new pseudophosphatase homologue of MTMR2 and Sbf1, in two families with an autosomal recessive demyelinating form of Charcot-Marie-Tooth disease …
H Azzedine, A Bolino, T Taieb, N Birouk, M Di Duca, A Bouhouche, ...
The American Journal of Human Genetics 72 (5), 1141-1153, 2003
PHOX2B mutations and polyalanine expansions correlate with the severity of the respiratory phenotype and associated symptoms in both congenital and late onset Central …
I Matera, T Bachetti, F Puppo, M Di Duca, F Morandi, GM Casiraghi, ...
Journal of medical genetics 41 (5), 373-380, 2004
Regulation of TMEM16A chloride channel properties by alternative splicing
L Ferrera, A Caputo, I Ubby, E Bussani, O Zegarra-Moran, R Ravazzolo, ...
Journal of Biological Chemistry 284 (48), 33360-33368, 2009
Neutrophils from patients with TNFRSF1A mutations display resistance to tumor necrosis factor–induced apoptosis: Pathogenetic and clinical implications
A D'Osualdo, F Ferlito, I Prigione, L Obici, A Meini, F Zulian, A Pontillo, ...
Arthritis & Rheumatism 54 (3), 998-1008, 2006
IL-4 is a potent modulator of ion transport in the human bronchial epithelium in vitro
LJV Galietta, P Pagesy, C Folli, E Caci, L Romio, B Costes, E Nicolis, ...
The Journal of Immunology 168 (2), 839-845, 2002
Genetic polymorphism of the renin-angiotensin system and organ damage in essential hypertension
R Pontremoli, M Ravera, F Viazzi, C Nicolella, V Berruti, G Leoncini, ...
Kidney international 57 (2), 561-569, 2000
Polymorphisms in the osteopontin promoter affect its transcriptional activity
F Giacopelli, R Marciano, A Pistorio, P Catarsi, S Canini, G Karsenty, ...
Physiological genomics 20 (1), 87-96, 2004
Betaine, dimethyl sulfoxide, and 7-deaza-dGTP, a powerful mixture for amplification of GC-rich DNA sequences
M Musso, R Bocciardi, S Parodi, R Ravazzolo, I Ceccherini
The Journal of Molecular Diagnostics 8 (5), 544-550, 2006
Lysyl oxidase activates the transcription activity of human collagene iii promoter possible involvement of ku antigen
M Giampuzzi, G Botti, M Di Duca, L Arata, GM Ghiggeri, R Gusmano, ...
Journal of Biological Chemistry 275 (46), 36341-36349, 2000
Thiocyanate transport in resting and IL-4-stimulated human bronchial epithelial cells: role of pendrin and anion channels
N Pedemonte, E Caci, E Sondo, A Caputo, K Rhoden, U Pfeffer, ...
The Journal of Immunology 178 (8), 5144-5153, 2007
Ectodermal dysplasias: not only ‘skin’deep
M Priolo, M Silengo, M Lerone, R Ravazzolo
Clinical genetics 58 (6), 415-430, 2000
The deletion polymorphism of the angiotensin I-converting enzyme gene is associated with target organ damage in essential hypertension.
R Pontremoli, A Sofia, A Tirotta, M Ravera, C Nicolella, F Viazzi, ...
Journal of the American Society of Nephrology 7 (12), 2550-2558, 1996
Two single‐nucleotide polymorphisms in the 5′ and 3′ ends of the osteopontin gene contribute to susceptibility to systemic lupus erythematosus
S D'Alfonso, N Barizzone, M Giordano, A Chiocchetti, C Magnani, ...
Arthritis & Rheumatism: Official Journal of the American College of …, 2005
Genetics, clinical and pathological features of glomerulonephrites associated with mutations of nonmuscle myosin IIA (Fechtner syndrome)
GM Ghiggeri, G Caridi, U Magrini, A Sessa, A Savoia, M Seri, A Pecci, ...
American journal of kidney diseases 41 (1), 95-104, 2003
Lactoferrin binding sites and nuclear localization in K562 (S) cells
C Garré, G Bianchi‐Scarrà, M Sirito, M Musso, R Ravazzolo
Journal of cellular physiology 153 (3), 477-482, 1992
Association of TMEM16A chloride channel overexpression with airway goblet cell metaplasia
P Scudieri, E Caci, S Bruno, L Ferrera, M Schiavon, E Sondo, V Tomati, ...
The Journal of physiology 590 (23), 6141-6155, 2012
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