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List of works by Giovanni Luca Scaglione

<i>HLA-Cw6</i> and other HLA-C alleles, as well as <i>MICB-DT, DDX58</i> and <i>TYK2</i> genetic variants associate with optimal response to anti-IL-17A treatment in patients with psoriasis

scientific article published on 09 December 2020

A Whole Germline BRCA2 Gene Deletion: How to Learn from CNV In Silico Analysis.

scientific article

A preliminary Quality Control (QC) for next generation sequencing (NGS) library evaluation turns out to be a very useful tool for a rapid detection of BRCA1/2 deleterious mutations.

scientific article

A rapid screening of a recurrent CYP24A1 pathogenic variant opens the way to molecular testing for Idiopathic Infantile Hypercalcemia (IIH)

scientific article published on 21 March 2018

CYP24A1 and SLC34A1 genetic defects associated with idiopathic infantile hypercalcemia: from genotype to phenotype

scientific article published on 01 October 2019

Capillary electrophoresis as alternative method to detect tumor genetic mutations: the model built on the founder BRCA1 c.4964_4982del19 variant

scientific article published on 01 January 2019

Clinical impact on ovarian cancer patients of massive parallel sequencing for BRCA mutation detection: the experience at Gemelli hospital and a literature review.

scientific article published on 26 August 2015

Competitive PCR-High Resolution Melting Analysis (C-PCR-HRMA) for large genomic rearrangements (LGRs) detection: A new approach to assess quantitative status of BRCA1 gene in a reference laboratory

scientific article published on 29 April 2017

High-resolution melting analysis to screen the ST18 gene functional risk variant for pemphigus vulgaris: The occasion to open a debate on its usefulness in clinical setting

scientific article published on 26 March 2019

Identification and Characterization of a New BRCA2 Rearrangement in an Italian Family with Hereditary Breast and Ovarian Cancer Syndrome.

scientific article published on 15 June 2017

Paradoxical psoriasis induced by TNF-α blockade shows immunological features typical of the early phase of psoriasis development

scientific article published on 29 October 2019