Emmanouil Athanasakis

Could the MED13 mutations manifest as a Kabuki-like syndrome?

Authors:

Laura De Nardi Flavio Faletra Adamo Pio D'Adamo Anna Monica Rosaria Bianco Emmanouil Athanasakis Irene Bruno Egidio Barbi

Am J Med Genet A 2020 Nov 30. Epub 2020 Nov 30.

University of Trieste, Trieste, Italy.

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November 2020

Proteins involved in oxidative stress in leiomyoma tissues treated with ulipristal acetate.

Authors:

Blendi Ura Lorenzo Monasta Yeraldin Chiquinquira Castillo De Spelorzi Giorgio Arrigoni Cinzia Franchin Stefania Biffi Michelangelo Aloisio Bartolomea Gaita Danilo Licastro Emmanouil Athanasakis Federica Scrimin Guglielmo Stabile Federico Romano Giovanni Di Lorenzo Giuseppe Ricci

Mol Med Rep 2021 Jan 12;23(1). Epub 2020 Nov 12.

Institute for Maternal and Child Health‑IRCCS 'Burlo Garofolo', I‑34137 Trieste, Italy.

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January 2021

Copy number variation, gene expression and histological localization of human beta-defensin 2 in patients with adeno-tonsillar hypertrophy.

Authors:

Fulvio Celsi Luisa Zupin Emmanouil Athanasakis Eva Orzan Domenico Leonardo Grasso Sergio Crovella

Biotech Histochem 2020 Nov 18;95(8):634-640. Epub 2020 Jun 18.

Department of Advance Diagnostics, Institute for Maternal and Child Health IRCCS Burlo Garofolo , Trieste, Italy.

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November 2020

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

Authors:

Liza Vecchi Brumatti Valentina Rosolen Marika Mariuz Elisa Piscianz Erica Valencic Maura Bin Emmanouil Athanasakis Pio D'Adamo Eirini Fragkiadoulaki Gemma Calamandrei Öykü Dinckol Fabio Barbone Luca Ronfani

J Epidemiol 2020 Apr 4. Epub 2020 Apr 4.

Institute for Maternal and Child Health - IRCCS "Burlo Garofolo".

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April 2020

Could a chimeric condition be responsible for unexpected genetic syndromes? The role of the single nucleotide polymorphism-array analysis.

Authors:

Roberta Bottega Stefania Cappellani Antonella Fabretto Alessandro Mauro Spinelli Giovanni Maria Severini Michelangelo Aloisio Michela Faleschini Emmanouil Athanasakis Irene Bruno Flavio Faletra Vanna Pecile

Mol Genet Genomic Med 2019 03 9;7(3):e546. Epub 2019 Jan 9.

Institute for Maternal and Child Health - IRCCS "Burlo Garofolo", Trieste, Italy.

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March 2019

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

Authors:

Paola Secchiero Rebecca Voltan Erika Rimondi Elisabetta Melloni Emmanouil Athanasakis Veronica Tisato Stefania Gallo Gian Matteo Rigolin Giorgio Zauli

Oncotarget 2017 Aug 22;8(35):59235-59245. Epub 2017 Jul 22.

Department of Morphology, Surgery and Experimental Medicine and LTTA Centre, University of Ferrara, Ferrara, Italy.

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August 2017

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

Authors:

Clara Rizzardi Emmanouil Athanasakis Francesca Cammisuli Simeone Dal Monego Yeraldin Chiquinquira Castillo DE Spelorzi Fulvio Costantinides Fabiola Giudici Maurizio Pinamonti Vincenzo Canzonieri Mauro Melato Lorella Pascolo

Anticancer Res 2017 06;37(6):3073-3083

Department of Medical, Surgical and Health Sciences, University of Trieste, Trieste, Italy.

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June 2017

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

Authors:

Michelangelo Aloisio Barbara Bortot Ilaria Gandin Giovanni Maria Severini Emmanouil Athanasakis

Genome 2017 Feb 14;60(2):183-192. Epub 2016 Oct 14.

b Medical Genetics, Institute for Maternal and Child Health, IRCCS "Burlo Garofolo", Trieste, Italy.

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February 2017

A technical application of quantitative next generation sequencing for chimerism evaluation.

Authors:

Michelangelo Aloisio Danilo Licastro Luciana Caenazzo Valentina Torboli Angela D'Eustacchio Giovanni Maria Severini Emmanouil Athanasakis

Mol Med Rep 2016 Oct 4;14(4):2967-74. Epub 2016 Aug 4.

Department of Advanced Diagnostic and Clinical Trials, Institute for Maternal and Child Health, IRCCS 'Burlo Garofolo', I‑34137 Trieste, Italy.

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October 2016

Abnormal expression of leiomyoma cytoskeletal proteins involved in cell migration.

Authors:

Blendi Ura Federica Scrimin Giorgio Arrigoni Emmanouil Athanasakis Michelangelo Aloisio Lorenzo Monasta Giuseppe Ricci

Oncol Rep 2016 May 17;35(5):3094-100. Epub 2016 Mar 17.

Institute for Maternal and Child Health - IRCCS 'Burlo Garofolo', Trieste, Italy.

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May 2016

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

Authors:

Carlo De Pieri Josef Vuch Eleonora De Martino Anna M Bianco Luca Ronfani Emmanouil Athanasakis Barbara Bortot Sergio Crovella Andrea Taddio Giovanni M Severini Alberto Tommasini

Pediatr Rheumatol Online J 2015 10;13:11. Epub 2015 Apr 10.

Institute for Maternal and Child Health IRCCS Burlo Garofolo, Trieste, Italy.

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September 2015

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

Authors:

Emmanouil Athanasakis Elisabetta Melloni Gian Matteo Rigolin Chiara Agnoletto Rebecca Voltan Diego Vozzi Elisa Piscianz Ludovica Segat Simeone Dal Monego Antonio Cuneo Paola Secchiero Giorgio Zauli

Oncotarget 2014 Dec;5(24):12635-45

Institute for Maternal and Child Health, IRCCS "Burlo Garofolo", Trieste, Italy.

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December 2014

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

Authors:

Carlo De Pieri Josef Vuch Emmanouil Athanasakis Giovanni Maria Severini Sergio Crovella Anna Monica Bianco Alberto Tommasini

Clin Exp Rheumatol 2014 Nov-Dec;32(6):993-4. Epub 2014 Oct 20.

Department of Paediatrics, Institute for Maternal and Child Health, IRCCS Burlo Garofolo, Trieste, Italy.

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March 2015

Ex vivo molecular rejuvenation improves the therapeutic activity of senescent human cardiac stem cells in a mouse model of myocardial infarction.

Stem Cells 2014 Sep;32(9):2373-85

Department of Medical and Biological Sciences, University of Udine, Udine, Italy.

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September 2014

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

Authors:

Raffaella Franca Paola Rebora Emmanouil Athanasakis Diego Favretto Federico Verzegnassi Giuseppe Basso Alberto Tommasini Maria Grazia Valsecchi Giuliana Decorti Marco Rabusin

Pharmacogenomics 2014 Apr;15(5):619-27

Institute for Maternal & Child Health (I.R.C.C.S) Burlo Garofolo, UO Pediatric Hemato-Oncology, Via dell'Istria 65/1, 34137 Trieste, Italy.

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April 2014

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

Authors:

Emmanouil Athanasakis Danilo Licastro Flavio Faletra Antonella Fabretto Savina Dipresa Diego Vozzi Anna Morgan Adamo P d'Adamo Vanna Pecile Xevi Biarnés Paolo Gasparini

Am J Med Genet A 2014 Jan 4;164A(1):170-6. Epub 2013 Dec 4.

Institute for Maternal and Child Health-IRCCS "Burlo Garofolo", Trieste, Italy.

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January 2014

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

Authors:

Flavio Faletra Adamo P D'Adamo Irene Bruno Emmanouil Athanasakis Saskia Biskup Laura Esposito Paolo Gasparini

Am J Med Genet A 2014 Jan 22;164A(1):42-7. Epub 2013 Nov 22.

Institute for Maternal and Child Health-IRCCS "Burlo Garofolo"-Trieste, Italy.

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January 2014

Complex rearrangement of the exon 6 genomic region among Opitz G/BBB Syndrome MID1 alterations.

Authors:

Chiara Migliore Emmanouil Athanasakis Sophie Dahoun Ambroise Wonkam Melissa Lees Olga Calabrese Fiona Connell Sally Ann Lynch Claudia Izzi Eva Pompilii Seema Thakur Merel van Maarle Louise C Wilson Germana Meroni

Eur J Med Genet 2013 Aug 19;56(8):404-10. Epub 2013 Jun 19.

Institute for Maternal and Child Health - IRCCS "Burlo Garofolo", Trieste, Italy.

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August 2013

Congenital hyperinsulinism: clinical and molecular analysis of a large Italian cohort.

Authors:

Flavio Faletra Emmanouil Athanasakis Anna Morgan Xevi Biarnés Federico Fornasier Rossella Parini Francesca Furlan Arianna Boiani Arianna Maiorana Carlo Dionisi-Vici Laura Giordano Alberto Burlina Alessandro Ventura Paolo Gasparini

Gene 2013 May 16;521(1):160-5. Epub 2013 Mar 16.

Institute for Maternal and Child Health-IRCCS "Burlo Garofolo", Trieste, Italy.

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May 2013

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

Authors:

Flavio Faletra Kara Snider Show-Ling Shyng Irene Bruno Emmanouil Athanasakis Paolo Gasparini Carlo Dionisi-Vici Alessandro Ventura Qing Zhou Charles A Stanley Alberto Burlina

Gene 2013 Mar 22;516(1):122-5. Epub 2012 Dec 22.

Medical Genetics, Institute for Maternal and Child Health - IRCCS "Burlo Garofolo", Trieste, Italy.

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March 2013

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