Acro-cardio-facial syndrome

Por Digilio, Maria Cristina, Dallapiccola, Bruno
Publicado em 2010

What Is New in Genetics of Congenital Heart Defects?

Por Digilio, Maria Cristina, Marino, Bruno
Publicado no Front Pediatr (2016)

Leopard syndrome

Por Sarkozy, Anna, Digilio, Maria Cristina, Dallapiccola, Bruno
Publicado em 2008

Grouping of Multiple-Lentigines/LEOPARD and Noonan Syndromes on the PTPN11 Gene

Por Digilio, Maria Cristina, Conti, Emanuela, Sarkozy, Anna, Mingarelli, Rita, Dottorini, Tania, Marino, Bruno, Pizzuti, Antonio, Dallapiccola, Bruno
Publicado em 2002

Prosystemin Overexpression in Tomato Enhances Resistance to Different Biotic Stresses by Activating Genes of Multiple Signaling Pathways

Por Coppola, Mariangela, Corrado, Giandomenico, Coppola, Valentina, Cascone, Pasquale, Martinelli, Rosanna, Digilio, Maria Cristina, Pennacchio, Francesco, Rao, Rosa
Publicado no Plant Mol Biol Report (2014)

16p subtelomeric duplication: a clinically recognizable syndrome

Por Digilio, Maria Cristina, Bernardini, Laura, Capalbo, Anna, Capolino, Rossella, Gagliardi, Maria Giulia, Marino, Bruno, Novelli, Antonio, Dallapiccola, Bruno
Publicado em 2009

Deletion of KDM6A, a Histone Demethylase Interacting with MLL2, in Three Patients with Kabuki Syndrome

Por Lederer, Damien, Grisart, Bernard, Digilio, Maria Cristina, Benoit, Valérie, Crespin, Marianne, Ghariani, Sophie Claire, Maystadt, Isabelle, Dallapiccola, Bruno, Verellen-Dumoulin, Christine
Publicado em 2012

Multiplex Ligation-Dependent Probe Amplification Analysis of GATA4 Gene Copy Number Variations in Patients with Isolated Congenital Heart Disease

Por Guida, Valentina, Lepri, Francesca, Vijzelaar, Raymon, De Zorzi, Andrea, Versacci, Paolo, Digilio, Maria Cristina, Marino, Bruno, De Luca, Alessandro, Dallapiccola, Bruno
Publicado em 2010

CHARGE syndrome due to deletion of region upstream of CHD7 gene START codon

Por Pisaneschi, Elisa, Sirleto, Pietro, Lepri, Francesca Romana, Genovese, Silvia, Dentici, Maria Lisa, Petrocchi, Stefano, Angioni, Adriano, Digilio, Maria Cristina, Dallapiccola, Bruno
Publicado no BMC Med Genet (2015)

Complex chromosome rearrangements related 15q14 microdeletion plays a relevant role in phenotype expression and delineates a novel recurrent syndrome

Por Roberti, Maria Cristina, Surace, Cecilia, Digilio, Maria Cristina, D'Elia, Gemma, Sirleto, Pietro, Capolino, Rossella, Lombardo, Antonietta, Tomaiuolo, Anna Cristina, Petrocchi, Stefano, Angioni, Adriano
Publicado em 2011

Array-CGH characterization and genotype-phenotype analysis in a patient with a ring chromosome 6

Por Ciocca, Laura, Surace, Cecilia, Digilio, Maria Cristina, Roberti, Maria Cristina, Sirleto, Pietro, Lombardo, Antonietta, Russo, Serena, Brizi, Valerio, Grotta, Simona, Cini, Claudio, Angioni, Adriano
Publicado em 2013

Transcriptomic and proteomic analysis of a compatible tomato-aphid interaction reveals a predominant salicylic acid-dependent plant response

Por Coppola, Valentina, Coppola, Mariangela, Rocco, Mariapina, Digilio, Maria Cristina, D’Ambrosio, Chiara, Renzone, Giovanni, Martinelli, Rosanna, Scaloni, Andrea, Pennacchio, Francesco, Rao, Rosa, Corrado, Giandomenico
Publicado em 2013

High-resolution SNP arrays in mental retardation diagnostics: how much do we gain?

Por Bernardini, Laura, Alesi, Viola, Loddo, Sara, Novelli, Antonio, Bottillo, Irene, Battaglia, Agatino, Digilio, Maria Cristina, Zampino, Giuseppe, Ertel, Adam, Fortina, Paolo, Surrey, Saul, Dallapiccola, Bruno
Publicado em 2010

Identification and characterization of seven novel mutations of elastin gene in a cohort of patients affected by supravalvular aortic stenosis

Por Micale, Lucia, Turturo, Maria Giuseppina, Fusco, Carmela, Augello, Bartolomeo, Jurado, Luis A Pérez, Izzi, Claudia, Digilio, Maria Cristina, Milani, Donatella, Lapi, Elisabetta, Zelante, Leopoldo, Merla, Giuseppe
Publicado em 2010

Spectrum of MEK1 and MEK2 gene mutations in cardio-facio-cutaneous syndrome and genotype–phenotype correlations

Por Dentici, Maria Lisa, Sarkozy, Anna, Pantaleoni, Francesca, Carta, Claudio, Lepri, Francesca, Ferese, Rosangela, Cordeddu, Viviana, Martinelli, Simone, Briuglia, Silvana, Digilio, Maria Cristina, Zampino, Giuseppe, Tartaglia, Marco, Dallapiccola, Bruno
Publicado em 2009

Practical Guidelines for Managing Patients with 22q11.2 Deletion Syndrome

Por Bassett, Anne S., McDonald-McGinn, Donna M., Devriendt, Koen, Digilio, Maria Cristina, Goldenberg, Paula, Habel, Alex, Marino, Bruno, Oskarsdottir, Solveig, Philip, Nicole, Sullivan, Kathleen, Swillen, Ann, Vorstman, Jacob
Publicado em 2011

Spinal ependymoma in a patient with Kabuki syndrome: a case report

Por Roma, Davide, Palma, Paolo, Capolino, Rossella, Figà-Talamanca, Lorenzo, Diomedi-Camassei, Francesca, Lepri, Francesca Romana, Digilio, Maria Cristina, Marras, Carlo Efisio, Messina, Raffaella, Carai, Andrea, Randi, Franco, Mastronuzzi, Angela
Publicado no BMC Med Genet (2015)

Atrioventricular canal defect in patients with RASopathies

Por Digilio, Maria Cristina, Romana Lepri, Francesca, Lisa Dentici, Maria, Henderson, Alex, Baban, Anwar, Cristina Roberti, Maria, Capolino, Rossella, Versacci, Paolo, Surace, Cecilia, Angioni, Adriano, Tartaglia, Marco, Marino, Bruno, Dallapiccola, Bruno
Publicado em 2013

Diagnosis of Noonan syndrome and related disorders using target next generation sequencing

Por Lepri, Francesca Romana, Scavelli, Rossana, Digilio, Maria Cristina, Gnazzo, Maria, Grotta, Simona, Dentici, Maria Lisa, Pisaneschi, Elisa, Sirleto, Pietro, Capolino, Rossella, Baban, Anwar, Russo, Serena, Franchin, Tiziana, Angioni, Adriano, Dallapiccola, Bruno
Publicado em 2014

NF1 Gene Mutations Represent the Major Molecular Event Underlying Neurofibromatosis-Noonan Syndrome

Por De Luca, Alessandro, Bottillo, Irene, Sarkozy, Anna, Carta, Claudio, Neri, Cinzia, Bellacchio, Emanuele, Schirinzi, Annalisa, Conti, Emanuela, Zampino, Giuseppe, Battaglia, Agatino, Majore, Silvia, Rinaldi, Maria M., Carella, Massimo, Marino, Bruno, Pizzuti, Antonio, Digilio, Maria Cristina, Tartaglia, Marco, Dallapiccola, Bruno
Publicado em 2005