about
Polymorphisms in innate immunity genes and patients response to dendritic cell-based HIV immuno-treatmentAbnormal expression of leiomyoma cytoskeletal proteins involved in cell migration.Molecular diagnosis of Usher syndrome: application of two different next generation sequencing-based procedures.Association of a variant in the CHRNA5-A3-B4 gene cluster region to heavy smoking in the Italian population.The p53 transcriptional pathway is preserved in ATMmutated and NOTCH1mutated chronic lymphocytic leukemias.Genetic profiling of autoinflammatory disorders in patients with periodic fever: a prospective study.A technical application of quantitative next generation sequencing for chimerism evaluationTwo Novel COH1 Mutations in an Italian Patient with Cohen Syndrome.Alagille Syndrome: A New Missense Mutation Detected by Whole-Exome Sequencing in a Case Previously Found to Be Negative by DHPLC and MLPA.Phospholipase C-β3 is a key modulator of IL-8 expression in cystic fibrosis bronchial epithelial cells.Puzzling Results from BAP1 Germline Mutations Analysis in a Group of Asbestos-Exposed Patients in a High-risk Area of Northeast Italy.The γ-secretase inhibitors enhance the anti-leukemic activity of ibrutinib in B-CLL cells.Co-inheritance of two ABCC8 mutations causing an unresponsive congenital hyperinsulinism: clinical and functional characterization of two novel ABCC8 mutations.Analysis of DEFB1 regulatory SNPs in cystic fibrosis patients from North-Eastern Italy.A polymorphism in the 5' UTR of the DEFB1 gene is associated with the lung phenotype in F508del homozygous Italian cystic fibrosis patients.Genetics of food preferences: a first view from silk road populations.A semi-nested real-time PCR method to detect low chimerism percentage in small quantity of hematopoietic stem cell transplant DNA samples.High-throughput genotyping robot-assisted method for mutation detection in patients with hypertrophic cardiomyopathy.TNF-α SNP rs1800629 and risk of relapse in childhood acute lymphoblastic leukemia: relation to immunophenotype.Next generation sequencing in nonsyndromic intellectual disability: from a negative molecular karyotype to a possible causative mutation detection.Autosomal recessive Stickler syndrome due to a loss of function mutation in the COL9A3 gene.F402L variant in NLRP12 in subjects with undiagnosed periodic fevers and in healthy controlsEx Vivo Molecular Rejuvenation Improves the Therapeutic Activity of Senescent Human Cardiac Stem Cells in a Mouse Model of Myocardial InfarctionA 3'UTR SNP in NLRP3 gene is associated with susceptibility to HIV-1 infectionVertebral defects in patients with Peters plus syndrome and mutations in B3GALTLImpact of methylmercury and other heavy metals exposure on neurocognitive function in children of 7 years old: study protocol of the follow-up
P50
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description
researcher
@en
wetenschapper
@nl
հետազոտող
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name
Emmanouil Athanasakis
@ast
Emmanouil Athanasakis
@en
Emmanouil Athanasakis
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Emmanouil Athanasakis
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Emmanouil Athanasakis
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type
label
Emmanouil Athanasakis
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Emmanouil Athanasakis
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Emmanouil Athanasakis
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Emmanouil Athanasakis
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Emmanouil Athanasakis
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prefLabel
Emmanouil Athanasakis
@ast
Emmanouil Athanasakis
@en
Emmanouil Athanasakis
@es
Emmanouil Athanasakis
@nl
Emmanouil Athanasakis
@sl
P106
P1153
36087097700
P31
P496
0000-0002-7707-2665