Clinical Phenotype of DiGeorge Syndrome with Negative Genetic Tests: A Case of DiGeorge-Like Syndrome?

por Laccetta, Gianluigi, Toschi, Benedetta, Fogli, Antonella, Bertini, Veronica, Valetto, Angelo, Consolini, Rita
Publicado 2015

Deletion Extents Are Not the Cause of Clinical Variability in 22q11.2 Deletion Syndrome: Does the Interaction between DGCR8 and miRNA-CNVs Play a Major Role?

por Bertini, Veronica, Azzarà, Alessia, Legitimo, Annalisa, Milone, Roberta, Battini, Roberta, Consolini, Rita, Valetto, Angelo
Publicado 2017

Familial Interstitial 6q23.2 Deletion Including Eya4 Associated With Otofaciocervical Syndrome

por Gana, Simone, Valetto, Angelo, Toschi, Benedetta, Sardelli, Irene, Cappelli, Susanna, Peroni, Diego, Bertini, Veronica
Publicado 2019

A Case of 22q11 Deletion Syndrome (22q11DS) with a Panayiotopoulos Epileptic Pattern: Are Additional Copy-Number Variations a Possible Second Hit in Modulating the 22q11DS Phenotyp...

por Bertini, Veronica, Valetto, Angelo, Azzarà, Alessia, Legitimo, Annalisa, Saggese, Giuseppe, Consolini, Rita, Orsini, Alessandro, Bonuccelli, Alice
Publicado 2017

Clinical, Immunological, and Genetic Findings in a Cohort of Patients with the DiGeorge Phenotype without 22q11.2 Deletion

por Alberio, Antonino Maria Quintilio, Legitimo, Annalisa, Bertini, Veronica, Baroncelli, Giampiero I., Costagliola, Giorgio, Valetto, Angelo, Consolini, Rita
Publicado 2022

A novel genetic variant in DNAI2 detected by custom gene panel in a newborn with Primary Ciliary Dyskinesia: case report

por Rocca, Maria Santa, Piatti, Gioia, Michelucci, Angela, Guazzo, Raffaella, Bertini, Veronica, Vinanzi, Cinzia, Caligo, Maria Adelaide, Valetto, Angelo, Foresta, Carlo
Publicado 2020

Enhancing DLG2 Implications in Neuropsychiatric Disorders: Analysis of a Cohort of Eight Patients with 11q14.1 Imbalances

por Bertini, Veronica, Milone, Roberta, Cristofani, Paola, Cambi, Francesca, Bosetti, Chiara, Barbieri, Filippo, Bertelloni, Silvano, Cioni, Giovanni, Valetto, Angelo, Battini, Roberta
Publicado 2022

Phenotypic Spectrum of NFIA Haploinsufficiency: Two Additional Cases and Review of the Literature

por Bertini, Veronica, Cambi, Francesca, Orsini, Alessandro, Bonuccelli, Alice, Fiorini, Aureliano, Santangelo, Andrea, Scacciati, Massimo, Elia, Maurizio, Galesi, Ornella, Peroni, Diego, Valetto, Angelo
Publicado 2022

In Tandem Intragenic Duplication of Doublesex and Mab-3-Related Transcription Factor 1 (DMRT1) in an SRY-Negative Boy with a 46,XX Disorder of Sex Development

por Bertini, Veronica, Baldinotti, Fulvia, Parma, Pietro, Tyutyusheva, Nina, Sepich, Margherita, Bertolucci, Giulia, Rosano, Camillo, Caligo, Maria Adelaide, Peroni, Diego, Valetto, Angelo, Bertelloni, Silvano
Publicado 2023

Sorafenib Induced Complete Cytogenetic and Molecular Response in a Chronic Eosinophilic Leukemia Case with t(12;13) Translocation

por Ricci, Federica, Balducci, Serena, Guerrini, Francesca, Grassi, Susanna, Ciabatti, Elena, Baratè, Claudia, Ferreri, Maria Immacolata, Giuliani, Cecilia, Valetto, Angelo, Petrini, Mario, Galimberti, Sara
Publicado 2020

Insertional translocation involving an additional nonchromothriptic chromosome in constitutional chromothripsis: Rule or exception?

por Kurtas, Nehir Edibe, Xumerle, Luciano, Giussani, Ursula, Pansa, Alessandra, Cardarelli, Laura, Bertini, Veronica, Valetto, Angelo, Liehr, Thomas, Clara Bonaglia, Maria, Errichiello, Edoardo, Delledonne, Massimo, Zuffardi, Orsetta
Publicado 2018

Myelodysplastic syndromes: advantages of a combined cytogenetic and molecular diagnostic workup

por Ciabatti, Elena, Valetto, Angelo, Bertini, Veronica, Ferreri, Maria Immacolata, Guazzelli, Alice, Grassi, Susanna, Guerrini, Francesca, Petrini, Iacopo, Metelli, Maria Rita, Caligo, Maria Adelaide, Rossi, Simona, Galimberti, Sara
Publicado 2017

Next generation sequencing technologies for a successful diagnosis in a cold case of Leigh syndrome

por Aretini, Paolo, Mazzanti, Chiara Maria, La Ferla, Marco, Franceschi, Sara, Lessi, Francesca, De Gregorio, Veronica, Nesti, Claudia, Valetto, Angelo, Bertini, Veronica, Toschi, Benedetta, Battini, Roberta, Caligo, Maria Adelaide
Publicado 2018

The Polycomb BMI1 Protein Is Co-expressed With CD26+ in Leukemic Stem Cells of Chronic Myeloid Leukemia

por Galimberti, Sara, Grassi, Susanna, Baratè, Claudia, Guerrini, Francesca, Ciabatti, Elena, Perutelli, Francesca, Ricci, Federica, Del Genio, Giada, Montali, Marina, Barachini, Serena, Giuliani, Cecilia, Ferreri, Maria Immacolata, Valetto, Angelo, Abruzzese, Elisabetta, Ippolito, Chiara, Iurlo, Alessandra, Bocchia, Monica, Sicuranza, Anna, Martino, Bruno, Iovino, Lorenzo, Buda, Gabriele, Salehzadeh, Serena, Petrini, Mario, Di Paolo, Antonello, Mattii, Letizia
Publicado 2018

Expanding Phenotype of Poirier–Bienvenu Syndrome: New Evidence from an Italian Multicentrical Cohort of Patients

por Orsini, Alessandro, Santangelo, Andrea, Bravin, Francesca, Bonuccelli, Alice, Peroni, Diego, Battini, Roberta, Foiadelli, Thomas, Bertini, Veronica, Valetto, Angelo, Iacomino, Michele, Nigro, Vincenzo, Torella, Anna Laura, Scala, Marcello, Capra, Valeria, Vari, Maria Stella, Fetta, Anna, Di Pisa, Veronica, Montanari, Francesca, Epifanio, Roberta, Bonanni, Paolo, Giorda, Roberto, Operto, Francesca, Pastorino, Grazia, Sarigecili, Esra, Sardaroglu, Esra, Okuyaz, Cetin, Bozdogan, Sevgan, Musante, Luciana, Faletra, Flavio, Zanus, Caterina, Ferretti, Alessandro, Vigevano, Federico, Striano, Pasquale, Cordelli, Duccio Maria
Publicado 2022