2023 - Research.com Biology and Biochemistry in Italy Leader Award
Gain-of-function RAF1 mutations cause Noonan and LEOPARD syndromes with hypertrophic cardiomyopathy
Bhaswati Pandit;Anna Sarkozy;Len A Pennacchio;Claudio Carta.
Nature Genetics (2007)
Practical Guidelines for Managing Patients with 22q11.2 Deletion Syndrome
Anne S Bassett;Donna M McDonald-McGinn;Koenraad Devriendt;Maria Cristina Digilio.
The Journal of Pediatrics (2011)
Grouping of multiple-lentigines/LEOPARD and Noonan syndromes on the PTPN11 gene.
Maria Cristina Digilio;Emanuela Conti;Anna Sarkozy;Rita Mingarelli.
American Journal of Human Genetics (2002)
Mutation of SHOC2 promotes aberrant protein N-myristoylation and causes Noonan-like syndrome with loose anagen hair
Viviana Cordeddu;Elia Di Schiavi;Len A. Pennacchio;Len A. Pennacchio;Avi Ma’ayan.
Nature Genetics (2009)
Germline BRAF mutations in noonan, LEOPARD, and cardiofaciocutaneous Syndromes: Molecular diversity and associated phenotypic spectrum
Anna Sarkozy;Claudio Carta;Sonia Moretti;Giuseppe Zampino.
Human Mutation (2009)
Anna Sarkozy;Maria Cristina Digilio;Bruno Dallapiccola.
Deletion of KDM6A, a Histone Demethylase Interacting with MLL2, in Three Patients with Kabuki Syndrome
Damien Lederer;Bernard Grisart;Maria Cristina Digilio;Valérie Benoit.
American Journal of Human Genetics (2012)
Congenital heart diseases in children with Noonan syndrome: An expanded cardiac spectrum with high prevalence of atrioventricular canal☆☆☆
Bruno Marino;Maria Cristina Digilio;Alessandra Toscano;Aldo Giannotti.
The Journal of Pediatrics (1999)
Heterozygous Germline Mutations in the CBL Tumor-Suppressor Gene Cause a Noonan Syndrome-like Phenotype
Simone Martinelli;Alessandro De Luca;Emilia Stellacci;Cesare Rossi.
American Journal of Human Genetics (2010)
Do interactions between plant roots and the rhizosphere affect parasitoid behaviour
Emilio Guerrieri;Guido Lingua;Maria Cristina Digilio;Nadia Massa.
Ecological Entomology (2004)
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