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

A Therapeutic Challenge: Liddle's Syndrome Managed with Amiloride during Pregnancy

por Caretto, Amelia, Primerano, Liviana, Novara, Francesca, Zuffardi, Orsetta, Genovese, Stefano, Rondinelli, Maurizio
Publicado 2014

Phenotypic Expansion in Nasu-Hakola Disease: Immunological Findings in Three Patients and Proposal of a Unifying Pathogenic Hypothesis

por Errichiello, Edoardo, Dardiotis, Efthimios, Mannino, Fiorenza, Paloneva, Juha, Mattina, Teresa, Zuffardi, Orsetta
Publicado 2019

RB1CC1 duplication and aberrant overexpression in a patient with schizophrenia: further phenotype delineation and proposal of a pathogenetic mechanism

por Errichiello, Edoardo, Giorda, Roberto, Gambale, Antonella, Iolascon, Achille, Zuffardi, Orsetta, Giglio, Sabrina
Publicado 2020

Case Report: Decrypting an interchromosomal insertion associated with Marfan’s syndrome: how optical genome mapping emphasizes the morbid burden of copy-neutral variants

por Bonaglia, Maria Clara, Salvo, Eliana, Sironi, Manuela, Bertuzzo, Sara, Errichiello, Edoardo, Mattina, Teresa, Zuffardi, Orsetta
Publicado 2023

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

Non-Invasive Detection of a De Novo Frameshift Variant of STAG2 in a Female Fetus: Escape Genes Influence the Manifestation of X-Linked Diseases in Females

por Provenzano, Aldesia, La Barbera, Andrea, Lai, Francesco, Perra, Andrea, Farina, Antonio, Cariati, Ettore, Zuffardi, Orsetta, Giglio, Sabrina
Publicado 2022

MECP2 duplication phenotype in symptomatic females: report of three further cases

por Novara, Francesca, Simonati, Alessandro, Sicca, Federico, Battini, Roberta, Fiori, Simona, Contaldo, Annarita, Criscuolo, Lucia, Zuffardi, Orsetta, Ciccone, Roberto
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

A donor splice site mutation in CISD2 generates multiple truncated, non-functional isoforms in Wolfram syndrome type 2 patients

por Cattaneo, Monica, La Sala, Lucia, Rondinelli, Maurizio, Errichiello, Edoardo, Zuffardi, Orsetta, Puca, Annibale Alessandro, Genovese, Stefano, Ceriello, Antonio
Publicado 2017

Targeted next-generation sequencing identifies the disruption of the SHANK3 and RYR2 genes in a patient carrying a de novo t(1;22)(q43;q13.3) associated with signs of Phelan-McDerm...

por Bonaglia, Maria Clara, Bertuzzo, Sara, Ciaschini, Anna Maria, Discepoli, Giancarlo, Castiglia, Lucia, Romaniello, Romina, Zuffardi, Orsetta, Fichera, Marco
Publicado 2020

Prenatal Noninvasive Trio-WES in a Case of Pregnancy-Related Liver Disorder

por Provenzano, Aldesia, Farina, Antonio, Seidenari, Anna, Azzaroli, Francesco, Serra, Carla, Della Gatta, Anna, Zuffardi, Orsetta, Giglio, Sabrina Rita
Publicado 2021

Highly Conserved Non-Coding Sequences and the 18q Critical Region for Short Stature: A Common Mechanism of Disease?

por Rizzolio, Flavio, Bione, Silvia, Sala, Cinzia, Tribioli, Carla, Ciccone, Roberto, Zuffardi, Orsetta, di Iorgi, Natascia, Maghnie, Mohamad, Toniolo, Daniela
Publicado 2008

Clinical Manifestations in a Girl with NAA10-Related Syndrome and Genotype–Phenotype Correlation in Females

por Maini, Ilenia, Caraffi, Stefano G., Peluso, Francesca, Valeri, Lara, Nicoli, Davide, Laurie, Steven, Baldo, Chiara, Zuffardi, Orsetta, Garavelli, Livia
Publicado 2021

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

Gene Copy Number Variation in Male Breast Cancer by aCGH

por Tommasi, Stefania, Mangia, Anita, Iannelli, Giuseppina, Chiarappa, Patrizia, Rossi, Elena, Ottini, Laura, Mottolese, Marcella, Zoli, Wainer, Zuffardi, Orsetta, Paradiso, Angelo
Publicado 2010

Dissection of partial 21q monosomy in different phenotypes: clinical and molecular characterization of five cases and review of the literature

por Errichiello, Edoardo, Novara, Francesca, Cremante, Anna, Verri, Annapia, Galli, Jessica, Fazzi, Elisa, Bellotti, Daniela, Losa, Laura, Cisternino, Mariangela, Zuffardi, Orsetta
Publicado 2016

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 2009

Transcutaneous electrical stimulation therapy and genetic analysis in Dercum's disease: A pilot study

por Caretto, Amelia, Errichiello, Edoardo, Patricelli, Maria Grazia, Zuffardi, Orsetta, Cristel, Giulia, Ravelli, Silvia, Sirtori, Marcella, Scavini, Marina, Bosi, Emanuele, Martinenghi, Sabina
Publicado 2021