Silvia Russo - Dissemin

Papers authored by Silvia Russo

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2011 Alessandro Mussa, Licia Peruzzi, Nicoletta Chiesa, Agostina De Crescenzo, Silvia Russo

, Daniela Melis, Luigi Tarani, Giuseppina Baldassarre, Lidia Larizza, Andrea Riccio, Margherita Silengo, Giovanni Battista Ferrero

Nephrological findings and genotype-phenotype correlation in Beckwith-Wiedemann syndrome

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Nicoletta Chiesa, Agostina De Crescenzo, Kankadeb Mishra, Lucia Perone, Massimo Carella, Orazio Palumbo, Alessandro Mussa, Angela Sparago, Flavia Cerrato, Silvia Russo

, Elisabetta Lapi, Maria Vittoria Cubellis, Chandrasekhar Kanduri, Margherita Cirillo Silengo, Margherita Cirillo Silengo and 2 other authors

The KCNQ1OT1 imprinting control region and non-coding RNA: New properties derived from the study of Beckwith–Wiedemann syndrome and Silver–Russell syndrome cases

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Guia Guffanti, Luisa Strik Lievers, Maria Teresa Bonati, Margherita Marchi, Lupo Geronazzo, Nardo Nardocci, Margherita Estienne, Lidia Larizza, Fabio Macciardi, Silvia Russo

Role of UBE3A and ATP10A genes in autism susceptibility region 15q11-q13 in an Italian population: A positive replication for UBE3A

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2010 L. Giordano, S. Sartori, S. Russo

, P. Accorsi, J. Galli, A. Tiberti, E. Bettella, M. Marchi, A. Vignoli, F. Darra, A. Murgia, B. Dalla Bernardina, B. Dalla Bernardina

Familial Ohtahara Syndrome Due to a Novel ARX Gene Mutation

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P. Castronovo, A. Delahaye-Duriez, C. Gervasini, J. Azzollini, F. Minier, S. Russo

, M. Masciadri, A. Selicorni, A. Verloes, L. Larizza

Somatic mosaicism in Cornelia de Lange syndrome: a further contributor to the wide clinical expressivity?

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Maria Pintaudi, Maria Grazia Calevo, Aglaia Vignoli, Elena Parodi, Francesca Aiello, Maria Giuseppina Baglietto, Yussef Hayek, Sabrina Buoni, Alessandra Renieri, Silvia Russo

, Francesca Cogliati, Lucio Giordano, MariaPaola Canevini, Edvige Veneselli

Epilepsy in Rett syndrome: Clinical and genetic features

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Daniela Giardino, Aglaia Vignoli, Lucia Ballarati, Maria Paola Recalcati, Silvia Russo

, Nicole Camporeale, Margherita Marchi, Palma Finelli, Patrizia Accorsi, Lucio Giordano, Francesca La Briola, Valentina Chiesa, Maria Paola Canevini, Lidia Larizza

Genetic investigations on 8 patients affected by ring 20 chromosome syndrome

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Mauro Longoni, Silvia Moncini, Mariangela Cisternino, Ilaria M. Morella, Serena Ferraiuolo, Silvia Russo

, Savina Mannarino, Valeria Brazzelli, Paola Coi, Renata Zippel, Marco Venturin

, Paola Riva

Noonan Syndrome Associated With Both a New Jnk-Activating Familial SOS1 and a De Novo RAF1 Mutations

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Giuseppe Limongelli, Silvia Russo

, Maria Cristina Digilio, Maura Masciadri, Giuseppe Pacileo, Fiorella Fratta, Francesca Martone, Valeria Maddaloni, Raffaella D'Alessandro, Paolo Calabro, Maria Giovanna Russo, Raffaele Calabro, Lidia Larizza

Hypertrophic cardiomyopathy in a girl with Cornelia de Lange syndrome due to mutation in SMC1A

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Maila Giannandrea, Veronica Bianchi, Maria Lidia Mignogna, Alessandra Sirri, Salvatore Carrabino, Errico D'Elia, Matteo Vecellio

, Silvia Russo

, Francesca Cogliati, Lidia Larizza, Hans-Hilger Ropers, Andreas Tzschach, Vera M. M. Kalscheuer, Barbara Oehl-Jaschkowitz, Cindy Skinner and 10 other authors

Mutations in the Small GTPase Gene RAB39B Are Responsible for X-linked Mental Retardation Associated with Autism, Epilepsy, and Macrocephaly

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Nicola Specchio, Martina Balestri, Pasquale Striano, Maria Roberta Cilio, Rosaria Nardello, Santina Patanè, Maria Luisa Margiotta, Salvatore Striano, Giuseppe D’Orsi, Silvia Russo

, Luigi Maria Specchio, Raffaella Cusmai

, Lucia Fusco, Federico Vigevano

Efficacy of levetiracetam in the treatment of drug-resistant Rett Syndrome.

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This paper was not found in any repository; the policy of its publisher is unknown or unclear.

C. Defendenti, G. Guercilena, A. Freschi, A. M. Croce, F. Servida, S. Russo

, S. Grosso, M. Longo, Spina, A. Miadonna, F. Atzeni, P. Sarzi-Puttini

Serological and clinical aspects in initial Wegener's disease. A case report,Granulomatosi di Wegener in fase acuta iniziale: Aspetti clinici e sierologici

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2009 Paola Castronovo, Cristina Gervasini, Anna Cereda, Maura Masciadri, Donatella Milani, Silvia Russo

, Angelo Selicorni, Lidia Larizza

Premature chromatid separation is not a useful diagnostic marker for Cornelia de Lange syndrome

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Veronica Saletti, Laura Canafoglia

, Paola Cambiaso, Silvia Russo

, Margherita Marchi, Daria Riva

A CDKL5 mutated child with precocious puberty

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S. Russo

, M. Marchi, F. Cogliati, M. T. Bonati, M. Pintaudi, E. Veneselli, V. Saletti, M. Balestrini, B. Ben-Zeev, L. Larizza

Novel mutations in the CDKL5 gene, predicted effects and associated phenotypes

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Andrea Riccio, Angela Sparago, Gaetano Verde, Agostina De Crescenzo, Valentina Citro

, Maria Vittoria Cubellis, Giovanni Battista Ferrero, Margherita Cirillo Silengo, Silvia Russo

, Lidia Larizza, Flavia Cerrato

Inherited and Sporadic Epimutations at the <i>IGF2-H19</i> Locus in Beckwith-Wiedemann Syndrome and Wilms’ Tumor

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2008 Jet Bliek

, Gaetano Verde, Jonathan Callaway, Saskia M. Maas, Agostina De Crescenzo, Angela Sparago, Flavia Cerrato, Silvia Russo

, Serena Ferraiuolo, Maria Michela Rinaldi, Rita Fischetto, Faustina Lalatta, Lucio Giordano, Paola Ferrari, Maria Vittoria Cubellis and 6 other authors

Hypomethylation at multiple maternally methylated imprinted regions including PLAGL1 and GNAS loci in Beckwith–Wiedemann syndrome

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Maria Pintaudi, Maria Giuseppina Baglietto, Roberto Gaggero, Elena Parodi, Alice Pessagno, Margherita Marchi, Silvia Russo

, Edvige Veneselli

Clinical and electroencephalographic features in patients with CDKL5 mutations: Two new Italian cases and review of the literature

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E. Freri, F. Ragona, I. Moroni, S. Binelli, L. Obino, S. Russo

, Franceschetti, T. Granata

Peculiar electroclinical patterns in two patients (a boy and a girl) with the same MECP2 mutation,Quadri elettroclinici particolari in due pazienti (un maschio e una femmina) con stessa mutazione del gene MECP2

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C. Gervasini, R. P. Pfundt, P. Castronovo, S. Russo

, G. Roversi, M. Masciadri, D. Milani, G. Zampino, A. Selicorni, Efpm F. P. M. Schoenmakers, L. Larizza

Search for genomic imbalances in a cohort of 24 Cornelia de Lange patients negative for mutations in the NIPBL and SMC1L1 genes.

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Papers authored by Silvia Russo