Publications by authors named "Alessandra Costella"

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A Novel Pathogenic Variant in the N-Terminal Domain of the Glucocorticoid Receptor, Causing Glucocorticoid Resistance.
Rosa Maria Paragliola, Alessandra Costella, Andrea Corsello, Andrea Urbani, Paola Concolino

Mol Diagn Ther· August 2020

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and Testing through Next Generation Sequencing in a Small Cohort of Italian Breast/Ovarian Cancer Patients: Novel Pathogenic and Unknown Clinical Significance Variants.
Paola Concolino, Gianfranco Gelli, Roberta Rizza, Alessandra Costella, Giovanni Scambia

Int J Mol Sci· July 2019

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Mutational Landscape of Resistance to Thyroid Hormone Beta (RTHβ).
Paola Concolino, Alessandra Costella, Rosa Maria Paragliola

Mol Diagn Ther· June 2019

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Congenital Adrenal Hyperplasia (CAH) due to 21-Hydroxylase Deficiency: A Comprehensive Focus on 233 Pathogenic Variants of CYP21A2 Gene.
Paola Concolino, Alessandra Costella

Mol Diagn Ther· June 2018

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High-resolution melting analysis coupled with next-generation sequencing as a simple tool for the identification of a novel somatic BRCA2 variant: a case report.
Alessandra Costella, Rossella De Leo, Donatella Guarino, Marco D'Indinosante, Paola Concolino

Hum Genome Var· June 2018

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A comprehensive BRCA1/2 NGS pipeline for an immediate Copy Number Variation (CNV) detection in breast and ovarian cancer molecular diagnosis.
Paola Concolino, Roberta Rizza, Flavio Mignone, Alessandra Costella, Donatella Guarino

Clin Chim Acta· May 2018

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Preliminary molecular evidence associating a novel BRCA1 synonymous variant with hereditary ovarian cancer syndrome.
Angelo Minucci, Paola Concolino, Maria De Bonis, Alessandra Costella, Ida Paris

Hum Genome Var· April 2018

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Identification and Characterization of a New BRCA2 Rearrangement in an Italian Family with Hereditary Breast and Ovarian Cancer Syndrome.
Paola Concolino, Roberta Rizza, Karl Hackmann, Angelo Minucci, Giovanni Luca Scaglione, Alessandra Costella

Mol Diagn Ther· October 2017

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CYP21A2 intronic variants causing 21-hydroxylase deficiency.
Paola Concolino, Roberta Rizza, Alessandra Costella, Cinzia Carrozza, Cecilia Zuppi

Metabolism· June 2017

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Multidisciplinary team for elucidation of any new mutation and how this approach can be useful to individualize any genetic result: the case of BRCA2 c.631G>A/c.7008-2A>T genotype Response to: Nagy PL, Mansukhani M. The role of clinical genomic testing in diagnosis and discovery of pathogenic mutations. Expert Rev Mol Diagn 2015;15(9):1101-5.
Angelo Minucci, Maria De Bonis, Alessandra Costella, Giovanni Scambia, Giuseppa Scandurra

Expert Rev Mol Diagn· July 2016

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Clinical impact on ovarian cancer patients of massive parallel sequencing for BRCA mutation detection: the experience at Gemelli hospital and a literature review.
Angelo Minucci, Giovanni Scambia, Concetta Santonocito, Paola Concolino, Giulia Canu, Alessandra Costella

Expert Rev Mol Diagn· June 2016

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Multiple endocrine neoplasia type 1 (MEN1): An update of 208 new germline variants reported in the last nine years.
Paola Concolino, Alessandra Costella, Ettore Capoluongo

Cancer Genet· June 2016

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CYP21A2 genetics: When genotype does not fit phenotype.
Ilaria Sani, Aurora Natalia Rossodivita, Michela Mariani, Alessandra Costella, Rossana Molinario

Clin Biochem· April 2016

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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.
Paola Concolino, Alessandra Costella, Angelo Minucci, Giovanni Luca Scaglione, Concetta Santonocito

Clin Chim Acta· November 2014

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