A newborn with ambiguous genitalia and a complex X;Y rearrangement

Por Dehghani, Mohammadreza, Rossi, Elena, Vetro, Annalisa, Russo, Gianni, Hashemian, Zahra, Zuffardi, Orsetta
Publicado em 2014

XX males SRY negative: a confirmed cause of infertility

Por Vetro, Annalisa, Ciccone, Roberto, Giorda, Roberto, Patricelli, Maria Grazia, Della Mina, Erika, Forlino, Antonella, Zuffardi, Orsetta
Publicado em 2011

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

A Data Fusion Approach to Enhance Association Study in Epilepsy

Por Marini, Simone, Limongelli, Ivan, Rizzo, Ettore, Malovini, Alberto, Errichiello, Edoardo, Vetro, Annalisa, Da, Tan, Zuffardi, Orsetta, Bellazzi, Riccardo
Publicado no PLoS One (2016)

Proximal 10q duplication in a child with severe central hypotonia characterized by array-comparative genomic hybridization: A case report and review of the literature

Por MANOLAKOS, EMMANOUIL, VETRO, ANNALISA, GARAS, ANTONIOS, THOMAIDIS, LORETTA, KEFALAS, KONSTANTINOS, KITSOS, GEORGE, ZIEGLER, MONIKA, LIEHR, THOMAS, ZUFFARDI, ORSETTA, PAPOULIDIS, IOANNIS
Publicado em 2014

Prenatal diagnosis of Wolf-Hirschhorn syndrome confirmed by comparative genomic hybridization array: report of two cases and review of the literature

Por Sifakis Stavros, Manolakos Emmanouil, Vetro Annalisa, Kappou Dimitra, Peitsidis Panagiotis, Kontodiou Maria, Garas Antonios, Vrachnis Nikolaos, Konstandinidou Anastasia, Zuffardi Orsetta, Orru Sandro, Papoulidis Ioannis
Publicado em 2012-02-01

Prenatal diagnosis of Wolf-Hirschhorn syndrome confirmed by comparative genomic hybridization array: report of two cases and review of the literature

Por Sifakis, Stavros, Manolakos, Emmanouil, Vetro, Annalisa, Kappou, Dimitra, Peitsidis, Panagiotis, Kontodiou, Maria, Garas, Antonios, Vrachnis, Nikolaos, Konstandinidou, Anastasia, Zuffardi, Orsetta, Orru, Sandro, Papoulidis, Ioannis
Publicado em 2012

Sox9 Duplications Are a Relevant Cause of Sry-Negative XX Sex Reversal Dogs

Por Rossi, Elena, Radi, Orietta, De Lorenzi, Lisa, Vetro, Annalisa, Groppetti, Debora, Bigliardi, Enrico, Luvoni, Gaia Cecilia, Rota, Ada, Camerino, Giovanna, Zuffardi, Orsetta, Parma, Pietro
Publicado em 2014

Combined 22q11.1-q11.21 deletion with 15q11.2-q13.3 duplication identified by array-CGH in a 6 years old boy

Por Manolakos, Emmanouil, Sarri, Catherine, Vetro, Annalisa, Kefalas, Konstantinos, Leze, Eleni, Sofocleus, Christalena, Kitsos, George, Merou, Konstantina, Kokotas, Haris, Papadopoulou, Anna, Attilakos, Achilleas, Petersen, Michael B, Kitsiou-Tzeli, Sofia
Publicado em 2011

Combined 22q11.1-q11.21 deletion with 15q11.2-q13.3 duplication identified by array-CGH in a 6 years old boy

Por Manolakos, Emmanouil, Sarri, Catherine, Vetro, Annalisa, Kefalas, Konstantinos, Leze, Eleni, Sofocleus, Christalena, Kitsos, George, Merou, Konstantina, Kokotas, Haris, Papadopoulou, Anna, Attilakos, Achilleas, Petersen, Michael B, Kitsiou-Tzeli, Sofia
Publicado em 2011

Prenatal diagnosis of two de novo 4q35-qter deletions characterized by array-CGH

Por Manolakos, Emmanouil, Kefalas, Konstantinos, Vetro, Annalisa, Oikonomidou, Eirini, Daskalakis, George, Psara, Natasa, Siomou, Elisa, Papageorgiou, Elena, Sevastopoulou, Eirini, Konstantinidou, Anastasia, Vrachnis, Nikolaos, Thomaidis, Loretta, Zuffardi, Orsetta, Papoulidis, Ioannis
Publicado em 2013

The use of array-CGH in a cohort of Greek children with developmental delay

Por Manolakos, Emmanouil, Vetro, Annalisa, Kefalas, Konstantinos, Rapti, Stamatia-Maria, Louizou, Eirini, Garas, Antonios, Kitsos, George, Vasileiadis, Lefteris, Tsoplou, Panagiota, Eleftheriades, Makarios, Peitsidis, Panagiotis, Orru, Sandro, Liehr, Thomas, Petersen, Michael B, Thomaidis, Loretta
Publicado em 2010

Primary coenzyme Q(10) deficiency presenting as fatal neonatal multiorgan failure

Por Desbats, Maria Andrea, Vetro, Annalisa, Limongelli, Ivan, Lunardi, Giada, Casarin, Alberto, Doimo, Mara, Spinazzi, Marco, Angelini, Corrado, Cenacchi, Giovanna, Burlina, Alberto, Rodriguez Hernandez, Maria Angeles, Chiandetti, Lino, Clementi, Maurizio, Trevisson, Eva, Navas, Placido, Zuffardi, Orsetta, Salviati, Leonardo
Publicado no Eur J Hum Genet (2015)

Improving molecular diagnosis in epilepsy by a dedicated high-throughput sequencing platform

Por Mina, Erika Della, Ciccone, Roberto, Brustia, Francesca, Bayindir, Baran, Limongelli, Ivan, Vetro, Annalisa, Iascone, Maria, Pezzoli, Laura, Bellazzi, Riccardo, Perotti, Gianfranco, De Giorgis, Valentina, Lunghi, Simona, Coppola, Giangennaro, Orcesi, Simona, Merli, Pietro, Savasta, Salvatore, Veggiotti, Pierangelo, Zuffardi, Orsetta
Publicado no Eur J Hum Genet (2015)

Deletions of the PRKAR1A Locus at 17q24.2-q24.3 in Carney Complex: Genotype-Phenotype Correlations and Implications for Genetic Testing

Por Salpea, Paraskevi, Horvath, Anelia, London, Edra, Faucz, Fabio R., Vetro, Annalisa, Levy, Isaac, Gourgari, Evgenia, Dauber, Andrew, Holm, Ingrid A., Morrison, Patrick J., Keil, Margaret F., Lyssikatos, Charalampos, Smith, Eric D., Sanidad, Marc A., Kelly, JoAnn C., Dai, Zunyan, Mowrey, Philip, Forlino, Antonella, Zuffardi, Orsetta, Stratakis, Constantine A.
Publicado em 2014

Testis development in the absence of SRY: chromosomal rearrangements at SOX9 and SOX3

Por Vetro, Annalisa, Dehghani, Mohammad Reza, Kraoua, Lilia, Giorda, Roberto, Beri, Silvana, Cardarelli, Laura, Merico, Maurizio, Manolakos, Emmanouil, Parada-Bustamante, Alexis, Castro, Andrea, Radi, Orietta, Camerino, Giovanna, Brusco, Alfredo, Sabaghian, Marjan, Sofocleous, Crystalena, Forzano, Francesca, Palumbo, Pietro, Palumbo, Orazio, Calvano, Savino, Zelante, Leopoldo, Grammatico, Paola, Giglio, Sabrina, Basly, Mohamed, Chaabouni, Myriam, Carella, Massimo, Russo, Gianni, Bonaglia, Maria Clara, Zuffardi, Orsetta
Publicado no Eur J Hum Genet (2015)

Constitutive Activation of PKA Catalytic Subunit in Adrenal Cushing’s Syndrome

Por Beuschlein, Felix, Fassnacht, Martin, Assié, Guillaume, Calebiro, Davide, Stratakis, Constantine A., Osswald, Andrea, Ronchi, Cristina L., Wieland, Thomas, Sbiera, Silviu, Faucz, Fabio R., Schaak, Katrin, Schmittfull, Anett, Schwarzmayr, Thomas, Barreau, Olivia, Vezzosi, Delphine, Rizk-Rabin, Marthe, Zabel, Ulrike, Szarek, Eva, Salpea, Paraskevi, Forlino, Antonella, Vetro, Annalisa, Zuffardi, Orsetta, Kisker, Caroline, Diener, Susanne, Meitinger, Thomas, Lohse, Martin J., Reincke, Martin, Bertherat, Jérome, Strom, Tim M., Allolio, Bruno
Publicado no N Engl J Med (2014)

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 Mechanisms Generating and Stabilizing Terminal 22q13 Deletions in 44 Subjects with Phelan/McDermid Syndrome

Por Bonaglia, Maria Clara, Giorda, Roberto, Beri, Silvana, De Agostini, Cristina, Novara, Francesca, Fichera, Marco, Grillo, Lucia, Galesi, Ornella, Vetro, Annalisa, Ciccone, Roberto, Bonati, Maria Teresa, Giglio, Sabrina, Guerrini, Renzo, Osimani, Sara, Marelli, Susan, Zucca, Claudio, Grasso, Rita, Borgatti, Renato, Mani, Elisa, Motta, Cristina, Molteni, Massimo, Romano, Corrado, Greco, Donatella, Reitano, Santina, Baroncini, Anna, Lapi, Elisabetta, Cecconi, Antonella, Arrigo, Giulia, Patricelli, Maria Grazia, Pantaleoni, Chiara, D'Arrigo, Stefano, Riva, Daria, Sciacca, Francesca, Dalla Bernardina, Bernardo, Zoccante, Leonardo, Darra, Francesca, Termine, Cristiano, Maserati, Emanuela, Bigoni, Stefania, Priolo, Emanuela, Bottani, Armand, Gimelli, Stefania, Bena, Frederique, Brusco, Alfredo, di Gregorio, Eleonora, Bagnasco, Irene, Giussani, Ursula, Nitsch, Lucio, Politi, Pierluigi, Martinez-Frias, Maria Luisa, Martínez-Fernández, Maria Luisa, Martínez Guardia, Nieves, Bremer, Anna, Anderlid, Britt-Marie, Zuffardi, Orsetta
Publicado em 2011