a) “Genetic mapping of two inherited disorders showing autosomal
dominant transmission”. Ricerca Corrente, Ministry of Health.
b) “Molecular Biology and Biotechnologies in Medical Genetics:
mapping and identification of genes involved in inherited disorders
and in common multifactorial diseases”. Ricerca Finalizzata,
Ministry of Health.
c) “Genetic mapping in a large Italian family of a gene responsible
for an autosomal dominant disease showing congenital bilateral
cataract, gastroesophageal reflux and spastic paraparesis with
amyotrophy”. Telethon Project.
d) “DNA Microarrays for the molecular diagnosis of Multiple
Endocrine Neoplasias type 2: identification of the causative
mutations in the RET proto-oncogene”. Progetto Finalizzato
e) “Identification of the gene responsible for Fechtner Syndrome”
f) “Linkage studies and mutational analysis in Hereditary Spastic
Paraplegias” Ricerca Finalizzata, Ministry of Health.
g) “Molecular characterization of hereditary thrombocytopenias and
thrombocytopathies: MYH9-related diseases and identification of
non-muscle myosin heavy chain type II A (NMMHC-IIA) interacting
proteins” Ministry of Research, Project COFIN 2003.
h) “Search of new disease causing genes and
genotype-phenotype correlation in Hereditary Spastic Paraplegia”
i) “Linkage analysis in families with recurrence of autosomal
recessive hereditary spastic paraplegia and thin corpus callosum:
analysis of the 15q13-q15 locus and identification of new disease
loci ” Ministry of Research, Project COFIN 2006 .
j) “Genetic bases of birth
defects” Ricerca Finalizzata, Ministry of Health.
k) “Genetic Mapping and
identification of new genes responsible for different forms of
Hereditary Spastic Paraplegia". Ministry of Research, Project COFIN
l) “A new gene for inherited
thrombocytopenias: clinical, pathogenetic and pharmacological
studies” Telethon Project.
m) “Identification of new
disease-causing genes in hereditary spastic paraplegia” Telethon
“Mutations in ANKRD26 cause a novel inherited
thrombocytopenia at risk of developing acute leukemia: dissecting
the clinical and molecular consequences of ANKRD26 mutations to
better understand the mechanisms of both thrombocytopenia
Ricerca Finalizzata, Ministero della Sanità.
“Combining next generation sequencing with clinical
studies to unravel novel inherited thrombocytopenias affecting half of the patients”. Progetto Telethon
“Sviluppo ed applicazione della metodica array-CGH in un campione
di 100 pazienti affetti da ritardo mentale sindromico” Fondazione
“Developing Medical Genetics Education through
Curriculum Reforms and Establishment of Postgraduate Training
Programs (MedGen)” Progetto Tempus, EU