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9 results for Costella,+Alessandra

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ArticlesPeer ReviewedFull Text
Preliminary molecular evidence associating a novel BRCA1 synonymous variant with hereditary ovarian cancer syndrome
Author / Creator:Minucci, Angelo ; Concolino, Paola ; De Bonis, Maria ; Costella, Alessandra ; Paris, Ida ; Scambia, Giovanni ; Capoluongo, Ettore
Publisher:London: Nature Publishing Group UK
Journal title:Human genome variation, 2018-04, Vol.5 (1), p.2-4, Article 2
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Congenital Adrenal Hyperplasia (CAH) due to 21-Hydroxylase Deficiency: A Comprehensive Focus on 233 Pathogenic Variants of CYP21A2 Gene
Author / Creator:Concolino, Paola ; Costella, Alessandra
Publisher:Cham: Springer International Publishing
Journal title:Molecular diagnosis & therapy, 2018-06, Vol.22 (3), p.261-280
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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
Author / Creator:Costella, Alessandra ; De Leo, Rossella ; Guarino, Donatella ; D’Indinosante, Marco ; Concolino, Paola ; Mazzuccato, Giorgia ; Urbani, Andrea ; Scambia, Giovanni ; Capoluongo, Ettore ; Fagotti, Anna ; Minucci, Angelo
Publisher:London: Nature Publishing Group UK
Journal title:Human genome variation, 2018-06, Vol.5 (1), p.10-4, Article 10
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Mutational Landscape of Resistance to Thyroid Hormone Beta (RTHβ)
Author / Creator:Concolino, Paola ; Costella, Alessandra ; Paragliola, Rosa Maria
Publisher:Cham: Springer International Publishing
Journal title:Molecular diagnosis & therapy, 2019-06, Vol.23 (3), p.353-368
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BRCA1 and BRCA2 Testing through Next Generation Sequencing in a Small Cohort of Italian Breast/Ovarian Cancer Patients: Novel Pathogenic and Unknown Clinical Significance Variants
Author / Creator:Concolino, Paola ; Gelli, Gianfranco ; Rizza, Roberta ; Costella, Alessandra ; Scambia, Giovanni ; Capoluongo, Ettore
Publisher:Switzerland: MDPI AG
Journal title:International journal of molecular sciences, 2019-07, Vol.20 (14), p.3442
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A Novel Pathogenic Variant in the N-Terminal Domain of the Glucocorticoid Receptor, Causing Glucocorticoid Resistance
Author / Creator:Paragliola, Rosa Maria ; Costella, Alessandra ; Corsello, Andrea ; Urbani, Andrea ; Concolino, Paola
Publisher:Cham: Springer International Publishing
Journal title:Molecular diagnosis & therapy, 2020-08, Vol.24 (4), p.473-485
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Identification and Characterization of a New BRCA2 Rearrangement in an Italian Family with Hereditary Breast and Ovarian Cancer Syndrome
Author / Creator:Concolino, Paola ; Rizza, Roberta ; Hackmann, Karl ; Minucci, Angelo ; Scaglione, Giovanni Luca ; De Bonis, Maria ; Costella, Alessandra ; Zuppi, Cecilia ; Schrock, Evelin ; Capoluongo, Ettore
Publisher:Cham: Springer International Publishing
Journal title:Molecular diagnosis & therapy, 2017-10, Vol.21 (5), p.539-545
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ReportsFull Text
Preliminary molecular evidence associating a novel BRCA1 synonymous variant with hereditary ovarian cancer syndrome
Author / Creator:Minucci, Angelo ; Concolino, Paola ; De Bonis, Maria ; Costella, Alessandra ; Paris, Ida ; Scambia, Giovanni ; Capoluongo, Ettore
Journal title:Human genome variation, 2018, Vol.5, p.2-2
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ReportsFull Text
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
Author / Creator:Costella, Alessandra ; De Leo, Rossella ; Guarino, Donatella ; D'Indinosante, Marco ; Concolino, Paola ; Mazzuccato, Giorgia ; Urbani, Andrea ; Scambia, Giovanni ; Capoluongo, Ettore ; Fagotti, Anna ; Minucci, Angelo
Journal title:Human genome variation, 2018, Vol.5, p.10-10
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Preliminary molecular evidence associating a novel BRCA1 synonymous variant with hereditary ovarian cancer syndrome

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Congenital Adrenal Hyperplasia (CAH) due to 21-Hydroxylase Deficiency: A Comprehensive Focus on 233 Pathogenic Variants of CYP21A2 Gene

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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

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Mutational Landscape of Resistance to Thyroid Hormone Beta (RTHβ)

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BRCA1 and BRCA2 Testing through Next Generation Sequencing in a Small Cohort of Italian Breast/Ovarian Cancer Patients: Novel Pathogenic and Unknown Clinical Significance Variants

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A Novel Pathogenic Variant in the N-Terminal Domain of the Glucocorticoid Receptor, Causing Glucocorticoid Resistance

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

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Preliminary molecular evidence associating a novel BRCA1 synonymous variant with hereditary ovarian cancer syndrome

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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

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