1 - 25 of 51 results for author:"Ravazzolo R." in Literature citations
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| Nephrin expression in adult rodent central nervous system and its interaction with glutamate receptors. Li M., Armelloni S., Ikehata M., Corbelli A., Pesaresi M., Calvaresi N., Giardino L., Mattinzoli D., Nistico F., Andreoni S. et al. J. Pathol. 225:118-128(2011) · Mapped (15) |
| Albuminuria and glomerular damage in mice lacking the metabotropic glutamate receptor 1. Puliti A., Rossi P.I., Caridi G., Corbelli A., Ikehata M., Armelloni S., Li M., Zennaro C., Conti V., Vaccari C.M. et al. Am. J. Pathol. 178:1257-1269(2011) · Mapped (3) |
| A polymorphism in the 5' UTR of the DEFB1 gene is associated with the lung phenotype in F508del homozygous Italian cystic fibrosis patients. Crovella S., Segat L., Amato A., Athanasakis E., Bezzerri V., Braggion C., Casciaro R., Castaldo G., Colombo C., Covone A.E. et al. Clin. Chem. Lab. Med. 49:49-54(2011) · Mapped (3) |
| A spectrum of LMX1B mutations in Nail-Patella syndrome: new point mutations, deletion, and evidence of mosaicism in unaffected parents. Marini M., Bocciardi R., Gimelli S., Di Duca M., Divizia M.T., Baban A., Gaspar H., Mammi I., Garavelli L., Cerone R. et al. Genet. Med. 12:431-439(2010) · Mapped (6) |
| The osteopontin gene +1239A/C single nucleotide polymorphism is associated with type 1 diabetes mellitus in the Italian population. Chiocchetti A., Orilieri E., Cappellano G., Barizzone N., D' Alfonso S., D' Annunzio G., Lorini R., Ravazzolo R., Cadario F., Martinetti M. et al. Int J Immunopathol Pharmacol 23:263-269(2010) · Mapped (8) |
| Functional characterization of a minimal sequence essential for the expression of human TLX2 gene. Borghini S., Bachetti T., Fava M., Duca M.D., Ravazzolo R., Ceccherini I. BMB Rep 42:788-793(2009) · Mapped (1) |
| The metabotropic glutamate receptor 1, GRM1: evaluation as a candidate gene for inherited forms of cerebellar ataxia. Rossi P.I., Vaccari C.M., Terracciano A., Doria-Lamba L., Facchinetti S., Priolo M., Ayuso C., De Jorge L., Gimelli S., Santorelli F.M. et al. J. Neurol. 257:598-602(2010) · Mapped (2) |
| Regulation of TMEM16A chloride channel properties by alternative splicing. Ferrera L., Caputo A., Ubby I., Bussani E., Zegarra-Moran O., Ravazzolo R., Pagani F., Galietta L.J. J. Biol. Chem. 284:33360-33368(2009) · Mapped (4) |
| Search for pathogenetic variants of the SPRY2 gene in intestinal innervation defects. Borghini S., Duca M.D., Pini Prato A., Lerone M., Martucciello G., Jasonni V., Ravazzolo R., Ceccherini I. Intern Med J 39:335-337(2009) · Mapped (2) |
| C-type natriuretic peptide and overgrowth. Bocciardi R., Ravazzolo R. Endocr Dev 14:61-66(2009) · Mapped (2) |
| Association of alleles at polymorphic sites in the Osteopontin encoding gene in young type 1 diabetic patients. Marciano R., D'Annunzio G., Minuto N., Pasquali L., Santamaria A., Di Duca M., Ravazzolo R., Lorini R. Clin. Immunol. 131:84-91(2009) · Mapped (8) |
| Mutational analysis of the ACVR1 gene in Italian patients affected with fibrodysplasia ossificans progressiva: confirmations and advancements. Bocciardi R., Bordo D., Di Duca M., Di Rocco M., Ravazzolo R. Eur. J. Hum. Genet. 17:311-318(2009) · Mapped (5) |
| TMEM16A, a membrane protein associated with calcium-dependent chloride channel activity. Caputo A., Caci E., Ferrera L., Pedemonte N., Barsanti C., Sondo E., Pfeffer U., Ravazzolo R., Zegarra-Moran O., Galietta L.J. Science 322:590-594(2008) · Mapped (4) |
| Presynaptic mGlu1 and mGlu5 autoreceptors facilitate glutamate exocytosis from mouse cortical nerve endings. Musante V., Neri E., Feligioni M., Puliti A., Pedrazzi M., Conti V., Usai C., Diaspro A., Ravazzolo R., Henley J.M. et al. Neuropharmacology 55:474-482(2008) · Mapped (10) |
| A BCR-JAK2 fusion gene as the result of a t(9;22)(p24;q11) in a patient with acute myeloid leukemia. Cirmena G., Aliano S., Fugazza G., Bruzzone R., Garuti A., Bocciardi R., Bacigalupo A., Ravazzolo R., Ballestrero A., Sessarego M. Cancer Genet. Cytogenet. 183:105-108(2008) · Mapped (34) |
| Evidence for direct CFTR inhibition by CFTR(inh)-172 based on Arg347 mutagenesis. Caci E., Caputo A., Hinzpeter A., Arous N., Fanen P., Sonawane N., Verkman A.S., Ravazzolo R., Zegarra-Moran O., Galietta L.J. Biochem. J. 413:135-142(2008) · Mapped (45) |
| Mild functional effects of a novel GFAP mutant allele identified in a familial case of adult-onset Alexander disease. Bachetti T., Caroli F., Bocca P., Prigione I., Balbi P., Biancheri R., Filocamo M., Mariotti C., Pareyson D., Ravazzolo R. et al. Eur. J. Hum. Genet. 16:462-470(2008) · Mapped (7) |
| Parental origin and somatic mosaicism of PHOX2B mutations in Congenital Central Hypoventilation Syndrome. Parodi S., Bachetti T., Lantieri F., Di Duca M., Santamaria G., Ottonello G., Matera I., Ravazzolo R., Ceccherini I. Hum. Mutat. 29:206-206(2008) · Mapped (1) |
| GFAP mutations and polymorphisms in 13 unrelated Italian patients affected by Alexander disease. Caroli F., Biancheri R., Seri M., Rossi A., Pessagno A., Bugiani M., Corsolini F., Savasta S., Romano S., Antonelli C. et al. Clin. Genet. 72:427-433(2007) · Mapped (7) |
| Transcriptional regulation of TLX2 and impaired intestinal innervation: possible role of the PHOX2A and PHOX2B genes. Borghini S., Di Duca M., Santamaria G., Vargiolu M., Bachetti T., Cargnin F., Pini Prato A., De Giorgio R., Lerone M., Stanghellini V. et al. Eur. J. Hum. Genet. 15:848-855(2007) · Mapped (2) |
| Overexpression of the C-type natriuretic peptide (CNP) is associated with overgrowth and bone anomalies in an individual with balanced t(2;7) translocation. Bocciardi R., Giorda R., Buttgereit J., Gimelli S., Divizia M.T., Beri S., Garofalo S., Tavella S., Lerone M., Zuffardi O. et al. Hum. Mutat. 28:724-731(2007) · UniProtKB (1) |
| The breakpoint identified in a balanced de novo translocation t(7;9)(p14.1;q31.3) disrupts the A-kinase (PRKA) anchor protein 2 gene (AKAP2) on chromosome 9 in a patient with Kallmann syndrome and bone anomalies. Panza E., Gimelli G., Passalacqua M., Cohen A., Gimelli S., Giglio S., Ghezzi C., Sparatore B., Heye B., Zuffardi O. et al. Int. J. Mol. Med. 19:429-435(2007) · Mapped (1) |
| AIRE gene polymorphisms in systemic sclerosis associated with autoimmune thyroiditis. Ferrera F., Rizzi M., Sprecacenere B., Balestra P., Sessarego M., Di Carlo A., Filaci G., Gabrielli A., Ravazzolo R., Indiveri F. Clin. Immunol. 122:13-17(2007) · Mapped (1) |
| crv4, a mouse model for human ataxia associated with kyphoscoliosis caused by an mRNA splicing mutation of the metabotropic glutamate receptor 1 (Grm1). Conti V., Aghaie A., Cilli M., Martin N., Caridi G., Musante L., Candiano G., Castagna M., Fairen A., Ravazzolo R. et al. Int. J. Mol. Med. 18:593-600(2006) · Mapped (3) |
| A variation in a Pit-1 site in the growth hormone gene (GH1) promoter induces a differential transcriptional activity. Giordano M., Godi M., Giacopelli F., Lessi M., Mellone S., Paracchini R., Petri A., Bellone J., Ravazzolo R., Bona G. et al. Mol. Cell. Endocrinol. 249:51-57(2006) · Mapped (7) |