List of works - Emmanouil Athanasakis

A 3'UTR SNP in NLRP3 gene is associated with susceptibility to HIV-1 infection

scientific article published on 01 July 2010

A polymorphism in the 5' UTR of the DEFB1 gene is associated with the lung phenotype in F508del homozygous Italian cystic fibrosis patients.

scientific article published on 16 November 2010

A semi-nested real-time PCR method to detect low chimerism percentage in small quantity of hematopoietic stem cell transplant DNA samples

scientific article published on 14 October 2016

A technical application of quantitative next generation sequencing for chimerism evaluation

scientific article

Abnormal expression of leiomyoma cytoskeletal proteins involved in cell migration.

scientific article published on 17 March 2016

Alagille Syndrome: A New Missense Mutation Detected by Whole-Exome Sequencing in a Case Previously Found to Be Negative by DHPLC and MLPA.

scientific article published on 16 February 2013

Analysis of DEFB1 regulatory SNPs in cystic fibrosis patients from North-Eastern Italy.

scientific article published on 24 February 2010

Association of a variant in the CHRNA5-A3-B4 gene cluster region to heavy smoking in the Italian population

scientific article

Autosomal recessive Stickler syndrome due to a loss of function mutation in the COL9A3 gene.

scientific article

Co-inheritance of two ABCC8 mutations causing an unresponsive congenital hyperinsulinism: clinical and functional characterization of two novel ABCC8 mutations

scientific article published on 22 December 2012

Ex Vivo Molecular Rejuvenation Improves the Therapeutic Activity of Senescent Human Cardiac Stem Cells in a Mouse Model of Myocardial Infarction

scientific article published on 01 September 2014

F402L variant in NLRP12 in subjects with undiagnosed periodic fevers and in healthy controls

scientific article published on 20 October 2014

Genetic profiling of autoinflammatory disorders in patients with periodic fever: a prospective study

scientific article

Genetics of food preferences: a first view from silk road populations

scientific article

High-throughput genotyping robot-assisted method for mutation detection in patients with hypertrophic cardiomyopathy.

scientific article published in September 2011

Impact of methylmercury and other heavy metals exposure on neurocognitive function in children of 7 years old: study protocol of the follow-up

scientific article published on 04 April 2020

Molecular diagnosis of Usher syndrome: application of two different next generation sequencing-based procedures

scientific article

Next generation sequencing in nonsyndromic intellectual disability: from a negative molecular karyotype to a possible causative mutation detection.

scientific article

Phospholipase C-β3 is a key modulator of IL-8 expression in cystic fibrosis bronchial epithelial cells

scientific article published on 16 March 2011

Polymorphisms in innate immunity genes and patients response to dendritic cell-based HIV immuno-treatment

scientific article

Puzzling Results from BAP1 Germline Mutations Analysis in a Group of Asbestos-Exposed Patients in a High-risk Area of Northeast Italy.

scientific article published on June 2017

TNF-α SNP rs1800629 and risk of relapse in childhood acute lymphoblastic leukemia: relation to immunophenotype.

scientific article published in April 2014

The p53 transcriptional pathway is preserved in ATMmutated and NOTCH1mutated chronic lymphocytic leukemias.

scientific article

The γ-secretase inhibitors enhance the anti-leukemic activity of ibrutinib in B-CLL cells.

scientific article published on 22 July 2017

Two Novel COH1 Mutations in an Italian Patient with Cohen Syndrome.

scientific article

Vertebral defects in patients with Peters plus syndrome and mutations in B3GALTL

scientific article published on 14 June 2011

List of works by Emmanouil Athanasakis

A 3'UTR SNP in NLRP3 gene is associated with susceptibility to HIV-1 infection

A polymorphism in the 5' UTR of the DEFB1 gene is associated with the lung phenotype in F508del homozygous Italian cystic fibrosis patients.

A semi-nested real-time PCR method to detect low chimerism percentage in small quantity of hematopoietic stem cell transplant DNA samples

A technical application of quantitative next generation sequencing for chimerism evaluation

Abnormal expression of leiomyoma cytoskeletal proteins involved in cell migration.

Alagille Syndrome: A New Missense Mutation Detected by Whole-Exome Sequencing in a Case Previously Found to Be Negative by DHPLC and MLPA.

Analysis of DEFB1 regulatory SNPs in cystic fibrosis patients from North-Eastern Italy.

Association of a variant in the CHRNA5-A3-B4 gene cluster region to heavy smoking in the Italian population

Autosomal recessive Stickler syndrome due to a loss of function mutation in the COL9A3 gene.

Co-inheritance of two ABCC8 mutations causing an unresponsive congenital hyperinsulinism: clinical and functional characterization of two novel ABCC8 mutations

Ex Vivo Molecular Rejuvenation Improves the Therapeutic Activity of Senescent Human Cardiac Stem Cells in a Mouse Model of Myocardial Infarction

F402L variant in NLRP12 in subjects with undiagnosed periodic fevers and in healthy controls

Genetic profiling of autoinflammatory disorders in patients with periodic fever: a prospective study

Genetics of food preferences: a first view from silk road populations

High-throughput genotyping robot-assisted method for mutation detection in patients with hypertrophic cardiomyopathy.

Impact of methylmercury and other heavy metals exposure on neurocognitive function in children of 7 years old: study protocol of the follow-up

Molecular diagnosis of Usher syndrome: application of two different next generation sequencing-based procedures

Next generation sequencing in nonsyndromic intellectual disability: from a negative molecular karyotype to a possible causative mutation detection.

Phospholipase C-β3 is a key modulator of IL-8 expression in cystic fibrosis bronchial epithelial cells

Polymorphisms in innate immunity genes and patients response to dendritic cell-based HIV immuno-treatment

Puzzling Results from BAP1 Germline Mutations Analysis in a Group of Asbestos-Exposed Patients in a High-risk Area of Northeast Italy.

TNF-α SNP rs1800629 and risk of relapse in childhood acute lymphoblastic leukemia: relation to immunophenotype.

The p53 transcriptional pathway is preserved in ATMmutated and NOTCH1mutated chronic lymphocytic leukemias.

The γ-secretase inhibitors enhance the anti-leukemic activity of ibrutinib in B-CLL cells.

Two Novel COH1 Mutations in an Italian Patient with Cohen Syndrome.

Vertebral defects in patients with Peters plus syndrome and mutations in B3GALTL