Severe growth hormone deficiency and pituitary malformation in a patient with chromosome 2p25 duplication and 2q37 deletion

Por Vetro, Annalisa, Pagani, Sara, Silengo, Margherita, Severino, Mariasavina, Bozzola, Elena, Meazza, Cristina, Zuffardi, Orsetta, Bozzola, Mauro
Publicado em 2014

3-M syndrome associated with growth hormone deficiency: 18 year follow-up of a patient

Por Meazza, Cristina, Lausch, Ekkehard, Pagani, Sara, Bozzola, Elena, Calcaterra, Valeria, Superti-Furga, Andrea, Silengo, Margherita, Bozzola, Mauro
Publicado em 2013

Subtelomeric FISH analysis in 76 patients with syndromic developmental delay/intellectual disability

Por Belligni, Elga F, Biamino, Elisa, Molinatto, Cristina, Messa, Jole, Pierluigi, Mauro, Faravelli, Francesca, Zuffardi, Orsetta, Ferrero, Giovanni B, Silengo, Margherita Cirillo
Publicado em 2009

Distinct Methylation Changes at the IGF2-H19 Locus in Congenital Growth Disorders and Cancer

Por Murrell, Adele, Ito, Yoko, Verde, Gaetano, Huddleston, Joanna, Woodfine, Kathryn, Silengo, Margherita Cirillo, Spreafico, Filippo, Perotti, Daniela, De Crescenzo, Agostina, Sparago, Angela, Cerrato, Flavia, Riccio, Andrea
Publicado em 2008

Functional evaluation of circulating hematopoietic progenitors in Noonan syndrome

Por TIMEUS, FABIO, CRESCENZIO, NICOLETTA, BALDASSARRE, GIUSEPPINA, DORIA, ALESSANDRA, VALLERO, STEFANO, FOGLIA, LUISELDA, PAGLIANO, SARA, ROSSI, CESARE, SILENGO, MARGHERITA CIRILLO, RAMENGHI, UGO, FAGIOLI, FRANCA, DI MONTEZEMOLO, LUCA CORDERO, FERRERO, GIOVANNI BATTISTA
Publicado em 2013

First Reported Patient with Human ERCC1 Deficiency Has Cerebro-Oculo-Facio-Skeletal Syndrome with a Mild Defect in Nucleotide Excision Repair and Severe Developmental Failure

Por Jaspers, Nicolaas G. J., Raams, Anja, Silengo, Margherita Cirillo, Wijgers, Nils, Niedernhofer, Laura J., Robinson, Andria Rasile, Giglia-Mari, Giuseppina, Hoogstraten, Deborah, Kleijer, Wim J., Hoeijmakers, Jan H. J., Vermeulen, Wim
Publicado em 2007

Transcriptional Hallmarks of Noonan Syndrome and Noonan-Like Syndrome with Loose Anagen Hair

Por Ferrero, Giovanni Battista, Picco, Gabriele, Baldassarre, Giuseppina, Flex, Elisabetta, Isella, Claudio, Cantarella, Daniela, Corá, Davide, Chiesa, Nicoletta, Crescenzio, Nicoletta, Timeus, Fabio, Merla, Giuseppe, Mazzanti, Laura, Zampino, Giuseppe, Rossi, Cesare, Silengo, Margherita, Tartaglia, Marco, Medico, Enzo
Publicado em 2012

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

Por Chiesa, Nicoletta, De Crescenzo, Agostina, Mishra, Kankadeb, Perone, Lucia, Carella, Massimo, Palumbo, Orazio, Mussa, Alessandro, Sparago, Angela, Cerrato, Flavia, Russo, Silvia, Lapi, Elisabetta, Cubellis, Maria Vittoria, Kanduri, Chandrasekhar, Cirillo Silengo, Margherita, Riccio, Andrea, Ferrero, Giovanni Battista
Publicado em 2012

Relative Burden of Large CNVs on a Range of Neurodevelopmental Phenotypes

Por 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.
Publicado em 2011

The molecular function and clinical phenotype of partial deletions of the IGF2/H19 imprinting control region depends on the spatial arrangement of the remaining CTCF-binding sites

Por Beygo, Jasmin, Citro, Valentina, Sparago, Angela, De Crescenzo, Agostina, Cerrato, Flavia, Heitmann, Melanie, Rademacher, Katrin, Guala, Andrea, Enklaar, Thorsten, Anichini, Cecilia, Cirillo Silengo, Margherita, Graf, Notker, Prawitt, Dirk, Cubellis, Maria Vittoria, Horsthemke, Bernhard, Buiting, Karin, Riccio, Andrea
Publicado em 2013

A Restricted Spectrum of Mutations in the SMAD4 Tumor-Suppressor Gene Underlies Myhre Syndrome

Por Caputo, Viviana, Cianetti, Luciano, Niceta, Marcello, Carta, Claudio, Ciolfi, Andrea, Bocchinfuso, Gianfranco, Carrani, Eugenio, Dentici, Maria Lisa, Biamino, Elisa, Belligni, Elga, Garavelli, Livia, Boccone, Loredana, Melis, Daniela, Andria, Generoso, Gelb, Bruce D., Stella, Lorenzo, Silengo, Margherita, Dallapiccola, Bruno, Tartaglia, Marco
Publicado em 2012

(Epi)genotype–phenotype correlations in Beckwith–Wiedemann syndrome

Por Mussa, Alessandro, Russo, Silvia, De Crescenzo, Agostina, Freschi, Andrea, Calzari, Luciano, Maitz, Silvia, Macchiaiolo, Marina, Molinatto, Cristina, Baldassarre, Giuseppina, Mariani, Milena, Tarani, Luigi, Bedeschi, Maria Francesca, Milani, Donatella, Melis, Daniela, Bartuli, Andrea, Cubellis, Maria Vittoria, Selicorni, Angelo, Cirillo Silengo, Margherita, Larizza, Lidia, Riccio, Andrea, Ferrero, Giovanni Battista
Publicado no Eur J Hum Genet (2016)

Different TBX5 interactions in heart and limb defined by Holt–Oram syndrome mutations

Por Basson, Craig T., Huang, Taosheng, Lin, Robert C., Bachinsky, David R., Weremowicz, Stanislawa, Vaglio, Alicia, Bruzzone, Rina, Quadrelli, Roberto, Lerone, Margherita, Romeo, Giovanni, Silengo, Margherita, Pereira, Alexandre, Krieger, Jose, Mesquita, Sonia F., Kamisago, Mitsuhiro, Morton, Cynthia C., Pierpont, Mary Ella M., Müller, Chistoph W., Seidman, J. G., Seidman, Christine E.
Publicado em 1999

Large cryptic genomic rearrangements with apparently normal karyotypes detected by array-CGH

Por Di Gregorio, Eleonora, Savin, Elisa, Biamino, Elisa, Belligni, Elga Fabia, Naretto, Valeria Giorgia, D’Alessandro, Gaetana, Gai, Giorgia, Fiocchi, Franco, Calcia, Alessandro, Mancini, Cecilia, Giorgio, Elisa, Cavalieri, Simona, Talarico, Flavia, Pappi, Patrizia, Gandione, Marina, Grosso, Monica, Asnaghi, Valentina, Restagno, Gabriella, Mandrile, Giorgia, Botta, Giovanni, Silengo, Margherita Cirillo, Grosso, Enrico, Ferrero, Giovanni Battista, Brusco, Alfredo
Publicado no Mol Cytogenet (2014)

Germline BRAF mutations in Noonan, LEOPARD and cardiofaciocutaneous syndromes: molecular diversity and associated phenotypic spectrum

Por 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
Publicado em 2009

SOS1 Mutations in Noonan Syndrome: Molecular Spectrum, Structural Insights on Pathogenic Effects, and Genotype–Phenotype Correlations

Por 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
Publicado em 2011

A restricted spectrum of NRAS mutations causes Noonan syndrome

Por Cirstea, Ion C, Kutsche, Kerstin, Dvorsky, Radovan, Gremer, Lothar, Carta, Claudio, Horn, Denise, Roberts, Amy E, Lepri, Francesca, Merbitz-Zahradnik, Torsten, König, Rainer, Kratz, Christian P, Pantaleoni, Francesca, Dentici, Maria L, Joshi, Victoria A, Kucherlapati, Raju S, Mazzanti, Laura, Mundlos, Stefan, Patton, Michael A, Silengo, Margherita Cirillo, Rossi, Cesare, Zampino, Giuseppe, Digilio, Cristina, Stuppia, Liborio, Seemanova, Eva, Pennacchio, Len A, Gelb, Bruce D, Dallapiccola, Bruno, Wittinghofer, Alfred, Ahmadian, Mohammad R, Tartaglia, Marco, Zenker, Martin
Publicado em 2009

The phenotype of recurrent 10q22q23 deletions and duplications

Por van Bon, Bregje W M, Balciuniene, Jorune, Fruhman, Gary, Nagamani, Sandesh Chakravarthy Sreenath, Broome, Diane L, Cameron, Elizabeth, Martinet, Danielle, Roulet, Eliane, Jacquemont, Sebastien, Beckmann, Jacques S, Irons, Mira, Potocki, Lorraine, Lee, Brendan, Cheung, Sau Wai, Patel, Ankita, Bellini, Melissa, Selicorni, Angelo, Ciccone, Roberto, Silengo, Margherita, Vetro, Annalisa, Knoers, Nine V, de Leeuw, Nicole, Pfundt, Rolph, Wolf, Barry, Jira, Petr, Aradhya, Swaroop, Stankiewicz, Pawel, Brunner, Han G, Zuffardi, Orsetta, Selleck, Scott B, Lupski, James R, de Vries, Bert B A
Publicado em 2011

Molecular Analysis, Pathogenic Mechanisms, and Readthrough Therapy on a Large Cohort of Kabuki Syndrome Patients

Por Micale, Lucia, Augello, Bartolomeo, Maffeo, Claudia, Selicorni, Angelo, Zucchetti, Federica, Fusco, Carmela, De Nittis, Pasquelena, Pellico, Maria Teresa, Mandriani, Barbara, Fischetto, Rita, Boccone, Loredana, Silengo, Margherita, Biamino, Elisa, Perria, Chiara, Sotgiu, Stefano, Serra, Gigliola, Lapi, Elisabetta, Neri, Marcella, Ferlini, Alessandra, Cavaliere, Maria Luigia, Chiurazzi, Pietro, Monica, Matteo Della, Scarano, Gioacchino, Faravelli, Francesca, Ferrari, Paola, Mazzanti, Laura, Pilotta, Alba, Patricelli, Maria Grazia, Bedeschi, Maria Francesca, Benedicenti, Francesco, Prontera, Paolo, Toschi, Benedetta, Salviati, Leonardo, Melis, Daniela, Di Battista, Eliana, Vancini, Alessandra, Garavelli, Livia, Zelante, Leopoldo, Merla, Giuseppe
Publicado no Hum Mutat (2014)

Mutation spectrum of MLL2 in a cohort of kabuki syndrome patients

Por Micale, Lucia, Augello, Bartolomeo, Fusco, Carmela, Selicorni, Angelo, Loviglio, Maria N, Silengo, Margherita Cirillo, Reymond, Alexandre, Gumiero, Barbara, Zucchetti, Federica, D'Addetta, Ester V, Belligni, Elga, Calcagnì, Alessia, Digilio, Maria C, Dallapiccola, Bruno, Faravelli, Francesca, Forzano, Francesca, Accadia, Maria, Bonfante, Aldo, Clementi, Maurizio, Daolio, Cecilia, Douzgou, Sofia, Ferrari, Paola, Fischetto, Rita, Garavelli, Livia, Lapi, Elisabetta, Mattina, Teresa, Melis, Daniela, Patricelli, Maria G, Priolo, Manuela, Prontera, Paolo, Renieri, Alessandra, Mencarelli, Maria A, Scarano, Gioacchino, Monica, Matteo della, Toschi, Benedetta, Turolla, Licia, Vancini, Alessandra, Zatterale, Adriana, Gabrielli, Orazio, Zelante, Leopoldo, Merla, Giuseppe
Publicado em 2011