BOCCIARDI, RENATA

BOCCIARDI, RENATA  

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

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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 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.
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
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.
C-type natriuretic peptide and overgrowth. 1-gen-2009 Bocciardi, Renata; Ravazzolo, Roberto
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.
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.
Condition for SSCP analysis, common polymorphisms and mutations of the RET protooncogene in Hirschsprung patients. 1-gen-1994 L., Yin; V., Barone; I., Ceccherini; Bocciardi, Renata; M., Seri; A., Bolino; M., Bozzano; T., Tocco; B., Pasini; P., Ronchetto; R., Hofstra; C., Buys; M., Lerone; Martucciello, Giuseppe; G., Romeo
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.
Detection of RET mutations in higher among long segment than short segment Hirschsprung patients. 1-gen-1995 G., Romeo; M., Seri; L., Yin; V., Baronwe; A., Bolino; J., Celli; Bocciardi, Renata; B., Pasini; I., Ceccherini; M., Lerone; M., Silengo; Martucciello, Giuseppe
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
Evaluating the influence of a g-quadruplex prone sequence on the transactivation potential by wild-type and/or mutant p53 family proteins through a yeast-based functional assay 1-gen-2021 Monti, P.; Brazda, V.; Bohalova, N.; Porubiakova, O.; Menichini, P.; Speciale, A.; Bocciardi, R.; Inga, A.; Fronza, G.
An example of parenchymal renal sparing in the context of complex malformations due to a novel mutation in the PBX1 gene In corso di stampa 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
Exon structure and flanking intronic sequences of the human RET proto-oncogene. 1-gen-1993 Ceccherini, I; Bocciardi, Renata; Luo, Y; Pasini, B; Hofstra, R; Takahashi, M; Romeo, G.
Fibrodysplasia ossificans progressiva with minor unilateral hallux anomaly in a sporadic case from Northern Tanzania with the common ACVR1c.617G>A mutation 1-gen-2015 Saleh, Mohammed; Commandeur, Joost; Bocciardi, Renata; Kinabo, Grace; Hamel, Ben
Fibrodysplasia Ossificans Progressiva: What Have We Achieved and Where Are We Now? Follow-up to the 2015 Lorentz Workshop 1-gen-2021 de Ruiter, R. D.; Smilde, B. J.; Pals, G.; Bravenboer, N.; Knaus, P.; Schoenmaker, T.; Botman, E.; Sanchez-Duffhues, G.; Pacifici, M.; Pignolo, R. J.; Shore, E. M.; van Egmond, M.; Van Oosterwyck, H.; Kaplan, F. S.; Hsiao, E. C.; Yu, P. B.; Bocciardi, R.; De Cunto, C. L.; Longo Ribeiro Delai, P.; de Vries, T. J.; Hilderbrandt, S.; Jaspers, R. T.; Keen, R.; Koolwijk, P.; Morhart, R.; Netelenbos, J. C.; Rustemeyer, T.; Scott, C.; Stockklausner, C.; ten Dijke, P.; Triffit, J.; Ventura, F.; Ravazzolo, R.; Micha, D.; Eekhoff, E. M. W.