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 panc... von D’Amato, E., Giacopelli, F., Giannattasio, A., D’Annunzio, G., Bocciardi, R., Musso, M., Lorini, R., Ravazzolo, R.

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Transverse reductional anomaly and atypical fibrodysplasia ossificans progressiva: A case diagnosed late von Paysal, J, Sarret, C, Merlin, E, Ravazzolo, R, Bocciardi, R, Garcier, J-M, Monnot, S, Laffargue, F, Baujat, G, Echaubard, S

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Neural Crest Neuroblasts Can Colonise Aganglionic and Ganglionic Gut In Vivo von Martucciello, G., Brizzolara, A., Favre, A., Lombardi, L., Bocciardi, R., Sanguineti, M., Pini Prato, A., Jasonni, V.

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P004 Clinical consequences and functional impact of the rare S737F CFTR variant von Terlizzi, V., Pesce, E., Lena, M.T., Tomati, V., Capurro, V., Pastorino, C., Bocciardi, R., Centrone, C., Taccetti, G., Castellani, C., Pedemonte, N.

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Double Heterozygosity for a RET Substitution Interfering with Splicing and an EDNRB Missense Mutation in Hirschsprung Disease von Auricchio, Alberto, Griseri, Paola, Carpentieri, Maria Luisa, Betsos, Nicola, Staiano, Annamaria, Tozzi, Arturo, Priolo, Manuela, Thompson, Helen, Bocciardi, Renata, Romeo, Giovanni, Ballabio, Andrea, Ceccherini, Isabella

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The Sensitivity of Activated Cys Ret Mutants to Glial Cell Line-Derived Neurotrophic Factor Is Mandatory To Rescue Neuroectodermic Cells from Apoptosis von Mograbi, Baharia, Bocciardi, Renata, Bourget, Isabelle, Juhel, Thierry, Farahi-Far, Dariush, Romeo, Giovanni, Ceccherini, Isabella, Rossi, Bernard

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EEC- and ADULT-Associated TP63 Mutations Exhibit Functional Heterogeneity Toward P63 Responsive Sequences von Monti, Paola, Russo, Debora, Bocciardi, Renata, Foggetti, Giorgia, Menichini, Paola, Divizia, Maria T., Lerone, Margherita, Graziano, Claudio, Wischmeijer, Anita, Viadiu, Hector, Ravazzolo, Roberto, Inga, Alberto, Fronza, Gilberto

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Exon Structure and Flanking Intronic Sequences of the Human RET Proto-oncogene von Ceccherini, I., Bocciardi, R., Luo, Y., Pasini, B., Hofstra, R., Takahashi, M., Romeo, G.

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A spectrum of LMX1B mutations in Nail-Patella syndrome: New point mutations, deletion, and evidence of mosaicism in unaffected parents von Marini, Monica, Bocciardi, Renata, Gimelli, Stefania, Di Duca, Marco, Divizia, Maria T., Baban, Anwar, Gaspar, Harald, Mammi, Isabella, Garavelli, Livia, Cerone, Roberto, Emma, Francesco, Bedeschi, Maria F., Tenconi, Romano, Sensi, Alberto, Salmaggi, Andrea, Bengala, Mario, Mari, Francesca, Colussi, Gianluca, Szczaluba, Krzysztof, Antonarakis, Stylianos E., Seri, Marco, Lerone, Margherita, Ravazzolo, Roberto

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Point mutations affecting the tyrosine kinase domain of the RET proto-oncogene in Hirschsprung's disease von Romeo, Giovanni, Ronchetto, Patrizia, Luo, Yin, Barone, Virginia, Seri, Marco, Ceccherini, Isabella, Pasini, Barbara, Bocciardi, Renata, Lerone, Margherita, Kääriäinen, Helena, Martucciello, Giuseppe

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Glial cell line-derived neurotrophic factor-stimulated phosphatidylinositol 3-kinase and Akt activities exert opposing effects on the ERK pathway: importance for the rescue of neur... von Mograbi, B, Bocciardi, R, Bourget, I, Busca, R, Rochet, N, Farahi-Far, D, Juhel, T, Rossi, B

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Heterogeneity and low detection rate of RET mutations in Hirschsprung disease von Yin, L, Barone, V, Seri, M, Bolino, A, Bocciardi, R, Ceccherini, I, Pasini, B, Tocco, T, Lerone, M, Cywes, S

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Molecular characterization of a t(2;6) balanced translocation that is associated with a complex phenotype and leads to truncation of the TCBA1 gene von Bocciardi, Renata, Giorda, Roberto, Marigo, Valeria, Zordan, Paola, Montanaro, Donatella, Gimelli, Stefania, Seri, Marco, Lerone, Margherita, Ravazzolo, Roberto, Gimelli, Giorgio

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Loss of function effect of RET mutations causing Hirschsprung disease von Pasini, Barbara, Borrello, Maria Grazia, Greco, Angela, Bongarzone, Italia, Luo, Yin, Mondellini, Piera, Alberti, Luisella, Miranda, Claudia, Arighi, Elena, Bocciardi, Renata, Seri, Marco, Barone, Virginia, Radice, Maria Teresa, Romeo, Giovanni, Pierotti, Marco A

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Anomalie réductionnelle transverse et fibrodysplasie ossifiante progressive atypique, à propos d’un cas de diagnostic tardif von Paysal, J., Sarret, C., Merlin, E., Ravazzolo, R., Bocciardi, R., Garcier, J.-M., Monnot, S., Laffargue, F., Baujat, G., Echaubard, S.

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Frequency of RET mutations in long- and short-segment Hirschsprung disease von Seri, Marco, Yin, Luo, Barone, Virginia, Bolino, Alessandra, Celli, Iacopo, Bocciardi, Renata, Pasini, Barbara, Ceccherini, Isabella, Lerone, Margherita, Kristoffersson, Ulf, Larsson, Lars T., Casasa, Josep Maria, Cass, Daniel T., Abramowicz, Marc Joel, Vanderwinden, Jean-Marie, Kravčenkiene, Ingrida, Baric, Ivo, Silengo, Margherita, Martucciello, Giuseppe, Romeo, Giovanni

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The multiple endocrine neoplasia type 2B point mutation switches the specificity of the Ret tyrosine kinase towards cellular substrates that are susceptible to interact with Crk an... von BOCCIARDI, R, MOGRABI, B, PASINI, B, BORRELLO, M. G, PIEROTTI, M. A, BOURGET, I, FISCHER, S, ROMEO, G, ROSSI, B

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A single-nucleotide polymorphic variant of the RET proto-oncogene is underrepresented in sporadic Hirschsprung disease von Griseri, P, Sancandi, M, Patrone, G, Bocciardi, R, Hofstra, R, Ravazzolo, R, Devoto, M, Romeo, G, Ceccherini, I

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Histochemical study of Dom mouse: a model for Waardenburg-Hirschsprung’s phenotype von Brizzolara, Antonella, Torre, Michele, Favre, Anna, Pini Prato, Alessio, Bocciardi, Renata, Martucciello, Giuseppe

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Sequence and characterisation of the RET proto-oncogene 5′ flanking region: analysis of retinoic acid responsiveness at the transcriptional level von Patrone, Giovanna, Puliti, Aldamaria, Bocciardi, Renata, Ravazzolo, Roberto, Romeo, Giovanni

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