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 no Case Rep Pediatr (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 no Front Genet (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 no Front Genet (2019)

Short Stature in Isodicentric Y Chromosome and Three Copies of the SHOX Gene: Clinical Report and Review of Literature

Por Valetto, Angelo, Bertini, Veronica, Michelucci, Angela, Toschi, Benedetta, Dati, Eleonora, Baroncelli, Giampietro I., Bertelloni, Silvano
Publicado no Mol Syndromol (2016)

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 no Front Pediatr (2017)

Maternal Uniparental Disomy 14 (Temple Syndrome) as a Result of a Robertsonian Translocation

Por Bertini, Veronica, Fogli, Antonella, Bruno, Rossella, Azzarà, Alessia, Michelucci, Angela, Mattina, Teresa, Bertelloni, Silvano, Valetto, Angelo
Publicado no Mol Syndromol (2017)

The best evidence for progressive myoclonic epilepsy: A pathway to precision therapy

Por Orsini, Alessandro, Valetto, Angelo, Bertini, Veronica, Esposito, Mariagrazia, Carli, Niccolò, Minassian, Berge A., Bonuccelli, Alice, Peroni, Diego, Michelucci, Roberto, Striano, Pasquale
Publicado no Seizure (2019)

Blepharophimosis, Ptosis, Epicanthus Inversus Syndrome: New Report with a 197-kb Deletion Upstream of FOXL2 and Review of the Literature

Por Bertini, Veronica, Valetto, Angelo, Baldinotti, Fulvia, Azzarà, Alessia, Cambi, Francesca, Toschi, Benedetta, Giacomina, Alessandro, Gatti, Gian L., Gana, Simone, Caligo, Maria A., Bertelloni, Silvano
Publicado no Mol Syndromol (2019)

Similarities and Differences Between the Light and Heavy Chain Ig Variable Region Gene Repertoires in Chronic Lymphocytic Leukemia

Por Ghiotto, Fabio, Fais, Franco, Albesiano, Emilia, Sison, Cristina, Valetto, Angelo, Gaidano, Gianluca, Reinhardt, Janine, Kolitz, Jonathan E, Rai, Kanti, Allen, Steven L, Ferrarini, Manlio, Chiorazzi, Nicholas
Publicado em 2006

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 no Mol Genet Genomic Med (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 no Oncotarget (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 no BMC Neurol (2018)

Remarkably similar antigen receptors among a subset of patients with chronic lymphocytic leukemia

Por Ghiotto, Fabio, Fais, Franco, Valetto, Angelo, Albesiano, Emilia, Hashimoto, Shiori, Dono, Mariella, Ikematsu, Hideyuki, Allen, Steven L., Kolitz, Jonathan, Rai, Kanti R., Nardini, Marco, Tramontano, Anna, Ferrarini, Manlio, Chiorazzi, Nicholas
Publicado em 2004

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 no Front Oncol (2018)