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

द्वारा Dehghani, Mohammadreza, Rossi, Elena, Vetro, Annalisa, Russo, Gianni, Hashemian, Zahra, Zuffardi, Orsetta
प्रकाशित 2014

XX males SRY negative: a confirmed cause of infertility

द्वारा Vetro, Annalisa, Ciccone, Roberto, Giorda, Roberto, Patricelli, Maria Grazia, Della Mina, Erika, Forlino, Antonella, Zuffardi, Orsetta
प्रकाशित 2011

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

द्वारा Vetro, Annalisa, Pagani, Sara, Silengo, Margherita, Severino, Mariasavina, Bozzola, Elena, Meazza, Cristina, Zuffardi, Orsetta, Bozzola, Mauro
प्रकाशित 2014

A Data Fusion Approach to Enhance Association Study in Epilepsy

द्वारा Marini, Simone, Limongelli, Ivan, Rizzo, Ettore, Malovini, Alberto, Errichiello, Edoardo, Vetro, Annalisa, Da, Tan, Zuffardi, Orsetta, Bellazzi, Riccardo
में प्रकाशित 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

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

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

द्वारा Papoulidis, Ioannis, Vetro, Annalisa, Paspaliaris, Vassilis, Ziegler, Monika, Kreskowski, Katharina, Daskalakis, George, Papadopoulos, Vasilios, Dagklis, Themistoklis, Liehr, Thomas, Thomaidis, Loretta, Manolakos, Emmanouil
में प्रकाशित Curr Genomics (2018)

Early infantile epileptic-dyskinetic encephalopathy due to biallelic PIGP mutations

द्वारा Vetro, Annalisa, Pisano, Tiziana, Chiaro, Silvia, Procopio, Elena, Guerra, Azzurra, Parrini, Elena, Mei, Davide, Virdò, Simona, Mangone, Giusi, Azzari, Chiara, Guerrini, Renzo
में प्रकाशित Neurol Genet (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

द्वारा Errichiello, Edoardo, Vetro, Annalisa, Mina, Tommaso, Wischmeijer, Anita, Berrino, Enrico, Carella, Miriam, Romagnoli, Maria, Sacchini, Patrizia, Venesio, Tiziana, Zecca, Marco, Zuffardi, Orsetta
में प्रकाशित Blood Cells Mol Dis (2017)

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

द्वारा Errichiello, Edoardo, Mustafa, Noor, Vetro, Annalisa, Notarangelo, Lucia Dora, de Jonge, Hugo, Rinaldi, Berardo, Vergani, Debora, Giglio, Sabrina Rita, Morbini, Patrizia, Zuffardi, Orsetta
में प्रकाशित J Pathol (2017)

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

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

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

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

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

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

Multiple genomic copy number variants associated with periventricular nodular heterotopia indicate extreme genetic heterogeneity

द्वारा Cellini, Elena, Vetro, Annalisa, Conti, Valerio, Marini, Carla, Doccini, Viola, Clementella, Claudia, Parrini, Elena, Giglio, Sabrina, Della Monica, Matteo, Fichera, Marco, Musumeci, Sebastiano Antonino, Guerrini, Renzo
में प्रकाशित Eur J Hum Genet (2019)

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

द्वारा 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
में प्रकाशित Sci Rep (2020)

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

द्वारा 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
में प्रकाशित Mol Med Rep (2017)

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

द्वारा 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
प्रकाशित 2011

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

द्वारा 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
प्रकाशित 2011

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

द्वारा 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
प्रकाशित 2013

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

द्वारा 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
में प्रकाशित Front Physiol (2019)

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

द्वारा 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
प्रकाशित 2010