WES in a family trio suggests involvement of TECPR2 in a complex form of progressive motor neuron disease
Covone, A.E., Fiorillo, C., Acquaviva, M., Trucco, F., Morana, G., Ravazzolo, R., Minetti, C.
Published in Clinical genetics (01.08.2016)
Published in Clinical genetics (01.08.2016)
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Genetic investigation in an Italian child with an unusual association of atrial septal defect, attributable to a new familial GATA4 gene mutation, and neonatal diabetes due to pancreatic agenesis
D’Amato, E., Giacopelli, F., Giannattasio, A., D’Annunzio, G., Bocciardi, R., Musso, M., Lorini, R., Ravazzolo, R.
Published in Diabetic medicine (01.10.2010)
Published in Diabetic medicine (01.10.2010)
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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 Associated with Early-Onset Glaucoma
Azzedine, H., Bolino, A., Taïeb, T., Birouk, N., Di Duca, M., Bouhouche, A., Benamou, S., Mrabet, A., Hammadouche, T., Chkili, T., Gouider, R., Ravazzolo, R., Brice, A., Laporte, J., LeGuern, E.
Published in American journal of human genetics (01.05.2003)
Published in American journal of human genetics (01.05.2003)
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PHOX2B mutations and polyalanine expansions correlate with the severity of the respiratory phenotype and associated symptoms in both congenital and late onset Central Hypoventilation syndrome
Matera, I, Bachetti, T, Puppo, F, Di Duca, M, Morandi, F, Casiraghi, G M, Cilio, M R, Hennekam, R, Hofstra, R, Schöber, J G, Ravazzolo, R, Ottonello, G, Ceccherini, I
Published in Journal of medical genetics (01.05.2004)
Published in Journal of medical genetics (01.05.2004)
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Journal Article
Transverse reductional anomaly and atypical fibrodysplasia ossificans progressiva: A case diagnosed late
Paysal, J, Sarret, C, Merlin, E, Ravazzolo, R, Bocciardi, R, Garcier, J-M, Monnot, S, Laffargue, F, Baujat, G, Echaubard, S
Published in Archives de pédiatrie : organe officiel de la Société française de pédiatrie (01.06.2017)
Published in Archives de pédiatrie : organe officiel de la Société française de pédiatrie (01.06.2017)
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Lysyl oxidase activates the transcription activity of human collagene III promoter. Possible involvement of Ku antigen
Giampuzzi, M, Botti, G, Di Duca, M, Arata, L, Ghiggeri, G, Gusmano, R, Ravazzolo, R, Di Donato, A
Published in The Journal of biological chemistry (17.11.2000)
Published in The Journal of biological chemistry (17.11.2000)
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Nuclear Run-On Assay Using Biotin Labeling, Magnetic Bead Capture and Analysis by Fluorescence-Based RT-PCR
Patrone, G, Puppo, F, Cusano, R, Scaranari, M, Ceccherini, I, Puliti, A, Ravazzolo, R
Published in BioTechniques (01.11.2000)
Published in BioTechniques (01.11.2000)
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IL-4 Is a Potent Modulator of Ion Transport in the Human Bronchial Epithelium In Vitro
Galietta, Luis J. V, Pagesy, Patrick, Folli, Chiara, Caci, Emanuela, Romio, Leila, Costes, Bruno, Nicolis, Elena, Cabrini, Giulio, Goossens, Michel, Ravazzolo, Roberto, Zegarra-Moran, Olga
Published in The Journal of immunology (1950) (15.01.2002)
Published in The Journal of immunology (1950) (15.01.2002)
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Journal Article
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, Romano, A, Pareyson, D, Gambero, P, Uziel, G, Ravazzolo, R, Ceccherini, I, Filocamo, M
Published in Clinical genetics (01.11.2007)
Published in Clinical genetics (01.11.2007)
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Journal Article
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
Published in Clinical Immunology (01.01.2007)
Published in Clinical Immunology (01.01.2007)
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Search for pathogenetic variants of the SPRY2 gene in intestinal innervation defects
Borghini, S., Duca, M. Di, Prato, A. Pini, Lerone, M., Martucciello, G., Jasonni, V., Ravazzolo, R., Ceccherini, I.
Published in Internal medicine journal (01.05.2009)
Published in Internal medicine journal (01.05.2009)
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A Next Generation Sequencing approach to the mutational screening of patients affected with systemic autoinflammatory disorders: diagnosis improvement and interpretation of complex clinical phenotypes
Rusmini, M, Federici, S, Caroli, F, Grossi, A, Baldi, M, Obici, L, Insalaco, A, Tommasini, A, Caorsi, R, Gallo, E, Olivieri, AN, Marzano, AV, Coviello, D, Ravazzolo, R, Martini, A, Gattorno, M, Ceccherini, I
Published in Pediatric rheumatology online journal (28.09.2015)
Published in Pediatric rheumatology online journal (28.09.2015)
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Haplotypes of the Human RET Proto‐oncogene Associated with Hirschsprung Disease in the Italian Population Derive from a Single Ancestral Combination of Alleles
Lantieri, F., Griseri, P., Puppo, F., Campus, R., Martucciello, G., Ravazzolo, R., Devoto, M., Ceccherini, I.
Published in Annals of human genetics (01.01.2006)
Published in Annals of human genetics (01.01.2006)
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Single nucleotide polymorphic alleles in the 5′ region of the RET proto-oncogene define a risk haplotype in Hirschsprung’s disease
Sancandi, M, Griseri, P, Pesce, B, Patrone, G, Puppo, F, Lerone, M, Martucciello, G, Romeo, G, Ravazzolo, R, Devoto, M, Ceccherini, I
Published in Journal of medical genetics (01.09.2003)
Published in Journal of medical genetics (01.09.2003)
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Refinement of the SPG9 locus on chromosome 10q23.3-24.2 and exclusion of candidate genes
Panza, E., Pippucci, T., Cusano, R., Lo Nigro, C., Pradella, L., Contardi, S., Rouleau, G. A., Stevanin, G., Ravazzolo, R., Liguori, R., Montagna, P., Romeo, G., Seri, M.
Published in European journal of neurology (01.05.2008)
Published in European journal of neurology (01.05.2008)
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Journal Article
Nail-patella syndrome and renal involvement. Description of three cases and literature review
Granata, A, Nori, G, Ravazzolo, R, Marini, M, Castellino, S, Sicurezza, E, Fiore, C E, Mignani, R
Published in Clinical nephrology (01.05.2008)
Published in Clinical nephrology (01.05.2008)
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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., Calcaterra, V., Cerutti, F., Bruno, G., Larizza, D., Dianzani, U.
Published in International journal of immunopathology and pharmacology (01.01.2010)
Published in International journal of immunopathology and pharmacology (01.01.2010)
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A polymorphic variant inside the osteopontin gene shows association with disease course in oligoarticular juvenile idiopathic arthritis
Marciano, R, Giacopelli, F, Divizia, M T, Gattorno, M, Felici, E, Pistorio, A, Martini, A, Ravazzolo, R, Picco, P
Published in Annals of the rheumatic diseases (01.05.2006)
Published in Annals of the rheumatic diseases (01.05.2006)
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Journal Article
Rescue of human RET gene expression by sodium butyrate: a novel powerful tool for molecular studies in Hirschsprung disease
Griseri, P, Patrone, G, Puppo, F, Romeo, G, Ravazzolo, R, Ceccherini, I
Published in Gut (01.08.2003)
Published in Gut (01.08.2003)
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