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BOCCIARDI, RENATA

BOCCIARDI, RENATA  

100009 - Dipartimento di Neuroscienze, Riabilitazione, Oftalmologia, Genetica e Scienze Materno-Infantili  

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Titolo Data di pubblicazione Autore(i) File
"Pesto" Mutation: Phenotypic and Genotypic Characteristics of Eight GCK/MODY Ligurian Patients 1-gen-2023 Salina, Alessandro; Bassi, Marta; Aloi, Concetta; Strati, Marina Francesca; Bocciardi, Renata; D'Annunzio, Giuseppe; Maghnie, Mohamad; Minuto, Nicola
A BCR-JAK2 fusion gene as the result of a t(9;22)(p24;q11) in a patient with acute myeloid leukemia 1-gen-2008 Cirmena, Gabriella; Aliano, Stefania; Fugazza, Giuseppina; Bruzzone, Roberto; Garuti, A; Bocciardi, Renata; Bacigalupo, A; Ravazzolo, Roberto; Ballestrero, Alberto; Sessarego, Mario
A case of Fibrodysplasia Ossificans Progressiva associated with a novel variant of the ACVR1 gene 1-gen-2021 Cappato, S.; Traberg, R.; Gintautiene, J.; Zara, F.; Bocciardi, R.
A new form of IRIDA due to combined heterozygous mutations of TMPRSS6 and ACVR1A encoding the BMP receptor ALK2 1-gen-2017 Pagani, Alessia; Colucci, Silvia; Bocciardi, Renata; Bertamino, Marta; Dufour, Carlo; Ravazzolo, Roberto; Silvestri, Laura; Camaschella, Clara
A novel p63 mutation in a fetus with ultrasound detection of split hand/foot malformation 1-gen-2012 Simonazzi, G; Miccoli, S; Salfi, N; Bonasoni, Mp; Bocciardi, Renata; Ravazzolo, Roberto; Seri, M; Curti, A; Pilu, G; Rizzo, N; Turchetti, D.
A novel stop codon variant affecting ΔNp63 isoforms associated with non-syndromic limb-mammary phenotype and uterine cervix dysplasia 1-gen-2020 Guazzarotti, L.; Sani, I.; Giglio, S.; Brunello, F.; Perilongo, G.; Bocciardi, R.
A single-nucleotide polymorphic variant of the RET proto-oncogene is underrepresented in sporadic Hirschsprung disease 1-gen-2000 Griseri, P; Sancandi, M; Patrone, G; Bocciardi, Renata; Hofstra, R; Ravazzolo, Roberto; Devoto, M; Romeo, G; Ceccherini, I.
A spectrum of LMX1B mutations in Nail-Patella syndrome: New point mutations, deletion, and evidence of mosaicism in unaffected parents 1-gen-2010 Marini, M; Bocciardi, R; Gimelli, S; DI DUCA, M; Divizia, Mt; Baban, A; Gaspar, H; Mammi, I; Garavelli, L; Cerone, R; Emma, F; Bedeschi, Mf; Tenconi, R; Sensi, A; Salmaggi, A; Bengala, M; Mari, F; Colussi, G; Szczaluba, K; Antonarakis, Se; Seri, M; Lerone, M; Ravazzolo, R.
A very short segment of the murine Ret promoter contains elements sensitive to in vitro neural cell differentiation 1-gen-2005 Zordan, P.; Ravazzolo, Roberto; Bocciardi, Renata
ACVR1 p.Q207E causes classic fibrodysplasia ossificans progressiva and is functionally distinct from the engineered constitutively active ACVR1 p.Q207D variant 1-gen-2014 J., Haupt; A., Deichsel; K., Stange; C., Ast; Bocciardi, Renata; Ravazzolo, Roberto; M., Di Rocco; P., Ferrari; A., Landi; F. S., Kaplan; E. M., Shore; C., Reissner; P., Seemann
An example of parenchymal renal sparing in the context of complex malformations due to a novel mutation in the PBX1 gene 1-gen-2022 Ruscitti, Federica; Cerminara, Maria; Iascone, Maria; Pezzoli, Laura; Romano, Ferruccio; Ronchetto, Patrizia; Martucciello, Giuseppe; Buratti, Silvia; Buffelli, Francesca; Bocciardi, Renata; Puliti, Aldamaria; Teresa Divizia, Maria
Anomalie réductionnelle transverse et fibrodysplasie ossifiante progressive atypique, à propos d'un cas de diagnostic tardif 1-gen-2017 Paysal, J; Sarret, C.; Merlin, E.; Ravazzolo, Roberto; Bocciardi, Renata; Garcier, J. M.; Monnot, S.; Laffargue, F.; Baujat, G.; Echaubard, S.
Betaine, dimethyl sulfoxide, and 7-deaza-dGTP, a powerful mixture for amplification of GC-rich DNA sequences. 1-gen-2006 Musso, M; Bocciardi, Renata; Parodi, S; Ravazzolo, Roberto; Ceccherini, I.
Clinical Consequences and Functional Impact of the Rare S737F CFTR Variant and Its Responsiveness to CFTR Modulators 1-gen-2023 Terlizzi, V.; Pesce, E.; Capurro, V.; Tomati, V.; Lena, M.; Pastorino, C.; Bocciardi, R.; Zara, F.; Centrone, C.; Taccetti, G.; Castellani, C.; Pedemonte, N.
Clinical Utility Gene Card for: Fibrodysplasia ossificans progressiva 1-gen-2015 Bravenboer, Nathalie; Micha, Dimitra; Triffit, James T; Bullock, Alex N; Ravazzolo, Roberto; Bocciardi, Renata; di Rocco, Maja; Netelenbos, J. Coen; Ten Dijke, Peter; Sánchez Duffhues, Gonzalo; Kaplan, Fred S; Shore, Eileen M; Pignolo, Robert J; Seemann, Petra; Ventura, Francesc; Beaujat, Genevieve; Eekhoff, Elizabeth M. W; Pals, Gerard
Close linkage with the RET protooncogene and boundaries of deletion mutations in autosomal dominant Hirschsprung disease. 1-gen-1993 Luo, Y; Ceccherini, I; Pasini, B; Matera, I; Bicocchi, Mp; Barone, V; Bocciardi, Renata; Kääriäinen, H; Weber, D; Devoto, M.
Cytogenetic damage induced in human lymphocytes by four vanadium compounds and micronucleus analysis by fluorescence in situ hybridization with a centromeric probe. 1-gen-1993 Migliore, L; Bocciardi, Renata; Macrì, C; LO JACONO, F.
DNA polymorphisms and conditions for SSCP analysis of the 20 exons of the ret proto-oncogene. 1-gen-1995 Ceccherini, I; Hofstra, Rm; Luo, Y; Stulp, Rp; Barone, V; Stelwagen, T; Bocciardi, Renata; Nijveen, H; Bolino, A; Seri, M; Ronchetto, P; Bozzano, M; Buys, Chcm; Romeo, G.
Double heterozygosity for a RET substitution interfering with splicing and an EDNRB missense mutation in Hirschsprung disease. 1-gen-1999 Auricchio, A; Griseri, P; Carpentieri, Ml; Betsos, N; Staiano, A; Tozzi, A; Priolo, M; Thompson, H; Bocciardi, Renata; Romeo, G; Ballabio, A; Ceccherini, I.
EEC- and ADULT-AssociatedTP63Mutations Exhibit Functional Heterogeneity Toward P63 Responsive Sequences 1-gen-2013 Paola, Monti; Debora, Russo; Bocciardi, Renata; Foggetti, Giorgia; Paola, Menichini; Maria T., Divizia; Margherita, Lerone; Claudio, Graziano; Anita, Wischmeijer; Hector, Viadiu; Ravazzolo, Roberto; Alberto, Inga; Gilberto, Fronza