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A silent mutation in exon 14 of the APC gene is associated with exon skipping in a FAP familyClinical and functional characterization of a novel mutation in lamin a/c gene in a multigenerational family with arrhythmogenic cardiac laminopathyLoss of STK11 expression is an early event in prostate carcinogenesis and predicts therapeutic response to targeted therapy against MAPK/p38.Analysis of the LKB1-STRAD-MO25 complexDevelopment of an Italian RM Y-STR haplotype database: Results of the 2013 GEFI collaborative exerciseThe 2011 GeFI collaborative exercise. Concordance study, proficiency testing and Italian population data on the new ENFSI/EDNAP loci D1S1656, D2S441, D10S1248, D12S391, D22S1045.In silico and in vivo splicing analysis of MLH1 and MSH2 missense mutations shows exon- and tissue-specific effects.Stat3-positive tumor cells contribute to vessels neoformation in primary central nervous system lymphomaCharacterization of the rs2802292 SNP identifies FOXO3A as a modifier locus predicting cancer risk in patients with PJS and PHTS hamartomatous polyposis syndromesTwo novel mutations and a new STK11/LKB1 gene isoform in Peutz-Jeghers patients.A homozygous frameshift mutation in the ESCO2 gene: evidence of intertissue and interindividual variation in Nmd efficiency.COQ4 mutations cause a broad spectrum of mitochondrial disorders associated with CoQ10 deficiency.Molecular and Functional Characterization of Three Different Postzygotic Mutations in PIK3CA-Related Overgrowth Spectrum (PROS) Patients: Effects on PI3K/AKT/mTOR Signaling and Sensitivity to PIK3 Inhibitors.Cancer risks in LKB1 germline mutation carriers.Parallelism of DOG1 expression with recurrence risk in gastrointestinal stromal tumors bearing KIT or PDGFRA mutations.The Italian National External quality assessment program in molecular genetic testing: results of the VII round (2010-2011).The association of adrenocortical carcinoma and thyroid cancer in a child with Peutz-Jeghers syndrome.Phosphatase and tensin homolog (PTEN) gene mutations and autism: literature review and a case report of a patient with Cowden syndrome, autistic disorder, and epilepsy.Association of autoimmune thyroiditis and celiac disease with Juvenile Polyposis due to 10q23.1q23.31 deletion: Potential role of PI3K/Akt pathway dysregulation.The Italian external quality control program for familial adenomatous polyposis of the colon: five years of experience.Novel splice isoforms of STRADalpha differentially affect LKB1 activity, complex assembly and subcellular localization.Functional analysis of LKB1/STK11 mutants and two aberrant isoforms found in Peutz-Jeghers Syndrome patients.The proliferative response of HT-29 human colon adenocarcinoma cells to bombesin-like peptides.The molecular characterization of a depurinated trial DNA sample can be a model to understand the reliability of the results in forensic genetics.Allele frequencies of the new European Standard Set (ESS) loci in a population of Apulia (Southern Italy).Endoglin gene mutations and polymorphisms in Italian patients with hereditary haemorrhagic telangiectasia.DHPLC-based mutation analysis of ENG and ALK-1 genes in HHT Italian population.Gait disturbance and lower limb pain in a patient with PIK3CA-related disorder.Molecular genetic analysis in a case of ganglioglioma: identification of a new mutation.Corrigendum to "Development of an Italian RM Y-STR haplotype database: Results of the 2013 GEFI collaborative exercise" [Forensic. Sci. Int. Genet. 15 (2015) 56-63].Survey of KRAS, BRAF and PIK3CA mutational status in 209 consecutive Italian colorectal cancer patients.Accurate Classification of NF1 Gene Variants in 84 Italian Patients with Neurofibromatosis Type 1.In vitro efficacy of ARQ 092, an allosteric AKT inhibitor, on primary fibroblast cells derived from patients with PIK3CA-related overgrowth spectrum (PROS).Two novel cases of compound heterozygous mutations in mitofusin2: Finding out the inheritance.SCE frequency measurement could be useful in the prenatal diagnosis of Roberts syndrome.Breakpoint determination of 15 large deletions in Peutz-Jeghers subjects.Hereditary hemorrhagic telangiectasia: arteriovenous malformations in children.Cancer risk associated with STK11/LKB1 germline mutations in Peutz-Jeghers syndrome patients: results of an Italian multicenter study.Association of beta-adrenergic receptor polymorphisms and progression to heart failure in patients with idiopathic dilated cardiomyopathy.De novo unbalanced translocation leading to monosomy 9p24.3p24.1 and trisomy 19q13.42q13.43 characterized by microarray-based comparative genomic hybridization in a child with partial cortical dysplasia and craniofacial dysmorphisms without trigonoce
P50
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հետազոտող
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P106
P1153
6603847760
P31
P496
0000-0001-8640-5532