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 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 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 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 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 2014

A Girl with 10 Mb Distal Xp Deletion Arising from Maternal Pericentric Inversion: Clinical Data and Molecular Characterization

por Papoulidis, Ioannis, Vetro, Annalisa, Paspaliaris, Vassilis, Ziegler, Monika, Kreskowski, Katharina, Daskalakis, George, Papadopoulos, Vasilios, Dagklis, Themistoklis, Liehr, Thomas, Thomaidis, Loretta, Manolakos, Emmanouil
Publicado 2018

Early infantile epileptic-dyskinetic encephalopathy due to biallelic PIGP mutations

por Vetro, Annalisa, Pisano, Tiziana, Chiaro, Silvia, Procopio, Elena, Guerra, Azzurra, Parrini, Elena, Mei, Davide, Virdò, Simona, Mangone, Giusi, Azzari, Chiara, Guerrini, Renzo
Publicado 2020

Whole exome sequencing in the differential diagnosis of Diamond-Blackfan anemia: Clinical and molecular study of three patients with novel RPL5 and mosaic RPS19 mutations

por Errichiello, Edoardo, Vetro, Annalisa, Mina, Tommaso, Wischmeijer, Anita, Berrino, Enrico, Carella, Miriam, Romagnoli, Maria, Sacchini, Patrizia, Venesio, Tiziana, Zecca, Marco, Zuffardi, Orsetta
Publicado 2017

SMARCA4 inactivating mutations cause concomitant Coffin–Siris syndrome, microphthalmia and small‐cell carcinoma of the ovary hypercalcaemic type

por Errichiello, Edoardo, Mustafa, Noor, Vetro, Annalisa, Notarangelo, Lucia Dora, de Jonge, Hugo, Rinaldi, Berardo, Vergani, Debora, Giglio, Sabrina Rita, Morbini, Patrizia, Zuffardi, Orsetta
Publicado 2017

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 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 2014

Shedding light on dark genes: enhanced targeted resequencing by optimizing the combination of enrichment technology and DNA fragment length

por Iadarola, Barbara, Xumerle, Luciano, Lavezzari, Denise, Paterno, Marta, Marcolungo, Luca, Beltrami, Cristina, Fortunati, Elisabetta, Mei, Davide, Vetro, Annalisa, Guerrini, Renzo, Parrini, Elena, Rossato, Marzia, Delledonne, Massimo
Publicado 2020

Partial monosomy 8p and trisomy 16q in two children with developmental delay detected by array comparative genomic hybridization

por Papadopoulou, Zoe, Papoulidis, Ioannis, Sifakis, Stavros, Markopoulos, Georgios, Vetro, Annalisa, Vlaikou, Angeliki-Maria, Ziegler, Monica, Liehr, Thomas, Thomaidis, Loretta, Zuffardi, Orsetta, Syrrou, Maria, George, Kitsos, Manolakos, Emmanouil
Publicado 2017

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 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 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 2013

PIEZO1 Hypomorphic Variants in Congenital Lymphatic Dysplasia Cause Shape and Hydration Alterations of Red Blood Cells

por Andolfo, Immacolata, De Rosa, Gianluca, Errichiello, Edoardo, Manna, Francesco, Rosato, Barbara Eleni, Gambale, Antonella, Vetro, Annalisa, Calcaterra, Valeria, Pelizzo, Gloria, De Franceschi, Lucia, Zuffardi, Orsetta, Russo, Roberta, Iolascon, Achille
Publicado 2019

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 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 2015

Mutations in the exocyst component EXOC2 cause severe defects in human brain development

por Van Bergen, Nicole J., Ahmed, Syed Mukhtar, Collins, Felicity, Cowley, Mark, Vetro, Annalisa, Dale, Russell C., Hock, Daniella H., de Caestecker, Christian, Menezes, Minal, Massey, Sean, Ho, Gladys, Pisano, Tiziana, Glover, Seana, Gusman, Jovanka, Stroud, David A., Dinger, Marcel, Guerrini, Renzo, Macara, Ian G., Christodoulou, John
Publicado 2020