Search Results - "Ferrero, Giovanni B."

Relative burden of large CNVs on a range of neurodevelopmental phenotypes by Girirajan, Santhosh, Brkanac, Zoran, Coe, Bradley P, Baker, Carl, Vives, Laura, Vu, Tiffany H, Shafer, Neil, Bernier, Raphael, Ferrero, Giovanni B, Silengo, Margherita, Warren, Stephen T, Moreno, Carlos S, Fichera, Marco, Romano, Corrado, Raskind, Wendy H, Eichler, Evan E

“…While numerous studies have implicated copy number variants (CNVs) in a range of neurological phenotypes, the impact relative to disease severity has been…”
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Mutation of SHOC2 promotes aberrant protein N-myristoylation and causes Noonan-like syndrome with loose anagen hair by Gelb, Bruce D, Tartaglia, Marco, Cordeddu, Viviana, Di Schiavi, Elia, Pennacchio, Len A, Ma'ayan, Avi, Sarkozy, Anna, Fodale, Valentina, Cecchetti, Serena, Cardinale, Alessio, Martin, Joel, Schackwitz, Wendy, Lipzen, Anna, Zampino, Giuseppe, Mazzanti, Laura, Digilio, Maria C, Martinelli, Simone, Flex, Elisabetta, Lepri, Francesca, Bartholdi, Deborah, Kutsche, Kerstin, Ferrero, Giovanni B, Anichini, Cecilia, Selicorni, Angelo, Rossi, Cesare, Tenconi, Romano, Zenker, Martin, Merlo, Daniela, Dallapiccola, Bruno, Iyengar, Ravi, Bazzicalupo, Paolo

“…N-myristoylation is a common form of co-translational protein fatty acylation resulting from the attachment of myristate to a required N-terminal glycine…”
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Cardiac defects, morbidity and mortality in patients affected by RASopathies. CARNET study results by Calcagni, Giulio, Limongelli, Giuseppe, D'Ambrosio, Angelo, Gesualdo, Francesco, Digilio, M. Cristina, Baban, Anwar, Albanese, Sonia B., Versacci, Paolo, De Luca, Enrica, Ferrero, Giovanni B., Baldassarre, Giuseppina, Agnoletti, Gabriella, Banaudi, Elena, Marek, Jan, Kaski, Juan P., Tuo, Giulia, Russo, M. Giovanna, Pacileo, Giuseppe, Milanesi, Ornella, Messina, Daniela, Marasini, Maurizio, Cairello, Francesca, Formigari, Roberto, Brighenti, Maurizio, Dallapiccola, Bruno, Tartaglia, Marco, Marino, Bruno

“…RASopathies are developmental disease caused by mutations in genes encoding for signal transducers of the RAS-MAPK cascade. The aim of the present study was to…”
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Heterozygous Germline Mutations in the CBL Tumor-Suppressor Gene Cause a Noonan Syndrome-like Phenotype by Martinelli, Simone, De Luca, Alessandro, Stellacci, Emilia, Rossi, Cesare, Checquolo, Saula, Lepri, Francesca, Caputo, Viviana, Silvano, Marianna, Buscherini, Francesco, Consoli, Federica, Ferrara, Grazia, Digilio, Maria C., Cavaliere, Maria L., van Hagen, Johanna M., Zampino, Giuseppe, van der Burgt, Ineke, Ferrero, Giovanni B., Mazzanti, Laura, Screpanti, Isabella, Yntema, Helger G., Nillesen, Willy M., Savarirayan, Ravi, Zenker, Martin, Dallapiccola, Bruno, Gelb, Bruce D., Tartaglia, Marco

“…RAS signaling plays a key role in controlling appropriate cell responses to extracellular stimuli and participates in early and late developmental processes…”
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Nomenclature and definition in asymmetric regional body overgrowth by Kalish, Jennifer M., Biesecker, Leslie G., Brioude, Frederic, Deardorff, Matthew A., Di Cesare‐Merlone, Alessandra, Druley, Todd, Ferrero, Giovanni B., Lapunzina, Pablo, Larizza, Lidia, Maas, Saskia, Macchiaiolo, Marina, Maher, Eamonn R., Maitz, Silvia, Martinez‐Agosto, Julian A., Mussa, Alessandro, Robinson, Peter, Russo, Silvia, Selicorni, Angelo, Hennekam, Raoul C.

“…We designate a novel term “isolated lateralized overgrowth” (ILO) for the findings previously described as “isolated hemihypertrophy” and “isolated…”
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SOS1 mutations in Noonan syndrome: molecular spectrum, structural insights on pathogenic effects, and genotype-phenotype correlations by Lepri, Francesca, De Luca, Alessandro, Stella, Lorenzo, Rossi, Cesare, Baldassarre, Giuseppina, Pantaleoni, Francesca, Cordeddu, Viviana, Williams, Bradley J., Dentici, Maria L., Caputo, Viviana, Venanzi, Serenella, Bonaguro, Michela, Kavamura, Ines, Faienza, Maria F., Pilotta, Alba, Stanzial, Franco, Faravelli, Francesca, Gabrielli, Orazio, Marino, Bruno, Neri, Giovanni, Silengo, Margherita Cirillo, Ferrero, Giovanni B., Torrrente, Isabella, Selicorni, Angelo, Mazzanti, Laura, Digilio, Maria C., Zampino, Giuseppe, Dallapiccola, Bruno, Gelb, Bruce D., Tartaglia, Marco

“…Noonan syndrome (NS) is among the most common nonchromosomal disorders affecting development and growth. NS is caused by aberrant RAS‐MAPK signaling and is…”
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Data on cardiac defects, morbidity and mortality in patients affected by RASopathies. CARNET study results by Calcagni, Giulio, Limongelli, Giuseppe, D'Ambrosio, Angelo, Gesualdo, Francesco, Digilio, Maria Cristina, Baban, Anwar, Albanese, Sonia B., Versacci, Paolo, De Luca, Enrica, Ferrero, Giovanni B., Baldassarre, Giuseppina, Agnoletti, Gabriella, Banaudi, Elena, Marek, Jan, Kaski, Juan P., Tuo, Giulia, Russo, Maria Giovanna, Pacileo, Giuseppe, Milanesi, Ornella, Messina, Daniela, Marasini, Maurizio, Cairello, Francesca, Formigari, Roberto, Brighenti, Maurizio, Dallapiccola, Bruno, Tartaglia, Marco, Marino, Bruno

“…A comprehensive description of morbidity and mortality in patients affected by mutations in genes encoding for signal transducers of the RAS-MAPK cascade…”
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SMAD4 mutations causing Myhre syndrome are under positive selection in the male germline by Wood, Katherine A, Tong, R Spencer, Motta, Marialetizia, Cordeddu, Viviana, Scimone, Eleanor R, Bush, Stephen J, Maxwell, Dale W, Giannoulatou, Eleni, Caputo, Viviana, Traversa, Alice, Mancini, Cecilia, Ferrero, Giovanni B, Benedicenti, Francesco, Grammatico, Paola, Melis, Daniela, Steindl, Katharina, Brunetti-Pierri, Nicola, Trevisson, Eva, Wilkie, Andrew Om, Lin, Angela E, Cormier-Daire, Valerie, Twigg, Stephen Rf, Tartaglia, Marco, Goriely, Anne

“…While it is widely thought that de novo mutations (DNMs) occur randomly, we previously showed that some DNMs are enriched because they are positively selected…”
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DNA methylation episignature and comparative epigenomic profiling of HNRNPU-related neurodevelopmental disorder by Rooney, Kathleen, van der Laan, Liselot, Trajkova, Slavica, Haghshenas, Sadegheh, Relator, Raissa, Lauffer, Peter, Vos, Niels, Levy, Michael A., Brunetti-Pierri, Nicola, Terrone, Gaetano, Mignot, Cyril, Keren, Boris, de Villemeur, Thierry B., Volker-Touw, Catharina M.L., Verbeek, Nienke, van der Smagt, Jasper J., Oegema, Renske, Brusco, Alfredo, Ferrero, Giovanni B., Misra-Isrie, Mala, Hochstenbach, Ron, Alders, Mariëlle, Mannens, Marcel M.A.M., Sadikovic, Bekim, van Haelst, Mieke M., Henneman, Peter

“…HNRNPU haploinsufficiency is associated with developmental and epileptic encephalopathy 54. This neurodevelopmental disorder is characterized by developmental…”
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NBAS pathogenic variants: Defining the associated clinical and facial phenotype and genotype–phenotype correlations by Carli, Diana, Giorgio, Elisa, Pantaleoni, Francesca, Bruselles, Alessandro, Barresi, Sabina, Riberi, Evelise, Licciardi, Francesco, Gazzin, Andrea, Baldassarre, Giuseppina, Pizzi, Simone, Niceta, Marcello, Radio, Francesca C., Molinatto, Cristina, Montin, Davide, Calvo, Pier L., Ciolfi, Andrea, Fleischer, Nicole, Ferrero, Giovanni B., Brusco, Alfredo, Tartaglia, Marco

“…The pathogenic variants in the neuroblastoma‐amplified sequence (NBAS) are associated with a clinical spectrum involving the hepatic, skeletal, ocular, and…”
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Structural, Functional, and Clinical Characterization of a Novel PTPN11 Mutation Cluster Underlying Noonan Syndrome by Pannone, Luca, Bocchinfuso, Gianfranco, Flex, Elisabetta, Rossi, Cesare, Baldassarre, Giuseppina, Lissewski, Christina, Pantaleoni, Francesca, Consoli, Federica, Lepri, Francesca, Magliozzi, Monia, Anselmi, Massimiliano, Delle Vigne, Silvia, Sorge, Giovanni, Karaer, Kadri, Cuturilo, Goran, Sartorio, Alessandro, Tinschert, Sigrid, Accadia, Maria, Digilio, Maria C., Zampino, Giuseppe, Luca, Alessandro, Cavé, Hélène, Zenker, Martin, Gelb, Bruce D., Dallapiccola, Bruno, Stella, Lorenzo, Ferrero, Giovanni B., Martinelli, Simone, Tartaglia, Marco

“…ABSTRACT Germline mutations in PTPN11, the gene encoding the Src‐homology 2 (SH2) domain‐containing protein tyrosine phosphatase (SHP2), cause Noonan syndrome…”
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Clinical exome sequencing efficacy and phenotypic expansions involving anomalous pulmonary venous return by Huth, Emily A, Zhao, Xiaonan, Owen, Nichole, Luna, Pamela N, Vogel, Ida, Dorf, Inger L H, Joss, Shelagh, Clayton-Smith, Jill, Parker, Michael J, Louw, Jacoba J, Gewillig, Marc, Breckpot, Jeroen, Kraus, Alison, Sasaki, Erina, Kini, Usha, Burgess, Trent, Tan, Tiong Y, Armstrong, Ruth, Neas, Katherine, Ferrero, Giovanni B, Brusco, Alfredo, Kerstjens-Frederikse, Wihelmina S, Rankin, Julia, Helvaty, Lindsey R, Landis, Benjamin J, Geddes, Gabrielle C, McBride, Kim L, Ware, Stephanie M, Shaw, Chad A, Lalani, Seema R, Rosenfeld, Jill A, Scott, Daryl A

“…Anomalous pulmonary venous return (APVR) frequently occurs with other congenital heart defects (CHDs) or extra-cardiac anomalies. While some genetic causes…”
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Germline BRAF mutations in Noonan, LEOPARD, and cardiofaciocutaneous syndromes: Molecular diversity and associated phenotypic spectrum by Sarkozy, Anna, Carta, Claudio, Moretti, Sonia, Zampino, Giuseppe, Digilio, Maria C, Pantaleoni, Francesca, Scioletti, Anna Paola, Esposito, Giorgia, Cordeddu, Viviana, Lepri, Francesca, Petrangeli, Valentina, Dentici, Maria L, Mancini, Grazia M.S, Selicorni, Angelo, Rossi, Cesare, Mazzanti, Laura, Marino, Bruno, Ferrero, Giovanni B, Silengo, Margherita Cirillo, Memo, Luigi, Stanzial, Franco, Faravelli, Francesca, Stuppia, Liborio, Puxeddu, Efisio, Gelb, Bruce D, Dallapiccola, Bruno, Tartaglia, Marco

“…Noonan, LEOPARD, and cardiofaciocutaneous syndromes (NS, LS, and CFCS) are developmental disorders with overlapping features including distinctive facial…”
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Revisiting Wilms tumour surveillance in Beckwith-Wiedemann syndrome with IC2 methylation loss, reply by Brioude, Frédéric, Hennekam, Raoul, Bliek, Jet, Coze, Carole, Eggermann, Thomas, Ferrero, Giovanni B, Kratz, Christian, Bouc, Yves Le, Maas, Saskia M, Mackay, Deborah J G, Maher, Eamonn R, Mussa, Alessandro, Netchine, Irene

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X-linked situs abnormalities result from mutations in ZIC3 by Gebbia, Marinella, Ferrero, Giovanni B, Pilia, Giuseppe, Bassi, Maria T, Aylsworth, Arthur S, Penman-Splitt, Miranda, Bird, Lynne M, Bamforth, John S, Burn, John, Schlessinger, David, Nelson, David L, Casey, Brett

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Excess of runs of homozygosity is associated with severe cognitive impairment in intellectual disability by Gandin, Ilaria, Faletra, Flavio, Faletra, Francesca, Carella, Massimo, Pecile, Vanna, Ferrero, Giovanni B., Biamino, Elisa, Palumbo, Pietro, Palumbo, Orazio, Bosco, Paolo, Romano, Corrado, Belcaro, Chiara, Vozzi, Diego, d’Adamo, Adamo P.

“…The harmful effects of inbreeding are well known by geneticists, and several studies have already reported cases of intellectual disability caused by recessive…”
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Subtelomeric FISH analysis in 76 patients with syndromic developmental delay/intellectual disability by Belligni, Elga F, Biamino, Elisa, Molinatto, Cristina, Messa, Jole, Pierluigi, Mauro, Faravelli, Francesca, Zuffardi, Orsetta, Ferrero, Giovanni B, Silengo, Margherita Cirillo

“…Intellectual disability affects approximately 1 to 3% of the general population. The etiology is still poorly understood and it is estimated that one-half of…”
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DNA methylation episignature and comparative epigenomic profiling for Pitt-Hopkins syndrome caused by TCF4 variants by van der Laan, Liselot, Lauffer, Peter, Rooney, Kathleen, Silva, Ananília, Haghshenas, Sadegheh, Relator, Raissa, Levy, Michael A., Trajkova, Slavica, Huisman, Sylvia A., Bijlsma, Emilia K., Kleefstra, Tjitske, van Bon, Bregje W., Baysal, Özlem, Zweier, Christiane, Palomares-Bralo, María, Fischer, Jan, Szakszon, Katalin, Faivre, Laurence, Piton, Amélie, Mesman, Simone, Hochstenbach, Ron, Elting, Mariet W., van Hagen, Johanna M., Plomp, Astrid S., Mannens, Marcel M.A.M., Alders, Mariëlle, van Haelst, Mieke M., Ferrero, Giovanni B., Brusco, Alfredo, Henneman, Peter, Sweetser, David A., Sadikovic, Bekim, Vitobello, Antonio, Menke, Leonie A.

“…Pitt-Hopkins syndrome (PTHS) is a neurodevelopmental disorder caused by pathogenic variants in TCF4, leading to intellectual disability, specific morphological…”
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Atypical cardiac defects in patients with RASopathies: Updated data on CARNET study by Calcagni, Giulio, Gagliostro, Giulia, Limongelli, Giuseppe, Unolt, Marta, De Luca, Enrica, Digilio, Maria C., Baban, Anwar, Albanese, Sonia B., Ferrero, Giovanni B., Baldassarre, Giuseppina, Agnoletti, Gabriella, Banaudi, Elena, Marek, Jan, Kaski, Juan P., Tuo, Giulia, Marasini, Maurizio, Cairello, Francesca, Madrigali, Andrea, Pacileo, Giuseppe, Russo, Maria G., Milanesi, Ornella, Formigari, Roberto, Brighenti, Maurizio, Ragni, Luca, Donti, Andrea, Drago, Fabrizio, Dallapiccola, Bruno, Tartaglia, Marco, Marino, Bruno, Versacci, Paolo

“…Background RASopathies are a set of relatively common autosomal dominant clinically and genetically heterogeneous disorders. Cardiac outcomes in terms of…”
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Array-Comparative Genomic Hybridization Analysis in Fetuses with Major Congenital Malformations Reveals that 24% of Cases Have Pathogenic Deletions/Duplications by Di Gregorio, Eleonora, Gai, Giorgia, Botta, Giovanni, Calcia, Alessandro, Pappi, Patrizia, Talarico, Flavia, Savin, Elisa, Ribotta, Marisa, Zonta, Andrea, Mancini, Cecilia, Giorgio, Elisa, Cavalieri, Simona, Restagno, Gabriella, Ferrero, Giovanni B, Viora, Elsa, Pasini, Barbara, Grosso, Enrico, Brusco, Alfredo, Brussino, Alessandro

“…Karyotyping and aCGH are routinely used to identify genetic determinants of major congenital malformations (MCMs) in fetal deaths or terminations of pregnancy…”
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