Scaglione GL - Search Results

1

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

De Paolis E, Minucci A, De Bonis M, Scaglione GL, Gervasoni J, Primiano A, Ferraro PM, Cappellani D, Marcocci C, Gambaro G, Capoluongo E. De Paolis E, et al. Among authors: scaglione gl. Clin Chim Acta. 2018 Jul;482:8-13. doi: 10.1016/j.cca.2018.03.024. Epub 2018 Mar 21. Clin Chim Acta. 2018. PMID: 29574006

2

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.

Concolino P, Costella A, Minucci A, Scaglione GL, Santonocito C, Salutari V, Scambia G, Zuppi C, Capoluongo E. Concolino P, et al. Among authors: scaglione gl. Clin Chim Acta. 2014 Nov 1;437:72-7. doi: 10.1016/j.cca.2014.06.026. Epub 2014 Jul 5. Clin Chim Acta. 2014. PMID: 25007954

3

Incidental Finding of a Homozygous p.M348K Asymptomatic Italian Patient Confirms the Many Faces of Cystic Fibrosis.

Molinario R, Palumbo S, Concolino P, Rocchetti S, Rizza R, Scaglione GL, Minucci A, Capoluongo E. Molinario R, et al. Among authors: scaglione gl. Case Rep Genet. 2015;2015:289627. doi: 10.1155/2015/289627. Epub 2015 Apr 1. Case Rep Genet. 2015. PMID: 25922769 Free PMC article.

4

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

Minucci A, Scambia G, Santonocito C, Concolino P, Canu G, Mignone F, Saggese I, Guarino D, Costella A, Molinario R, De Bonis M, Ferrandina G, Petrillo M, Scaglione GL, Capoluongo E. Minucci A, et al. Among authors: scaglione gl. Expert Rev Mol Diagn. 2015;15(10):1383-403. doi: 10.1586/14737159.2015.1081059. Epub 2015 Aug 26. Expert Rev Mol Diagn. 2015. PMID: 26306726 Review.

5

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.

Minucci A, De Paolis E, Concolino P, De Bonis M, Rizza R, Canu G, Scaglione GL, Mignone F, Scambia G, Zuppi C, Capoluongo E. Minucci A, et al. Among authors: scaglione gl. Clin Chim Acta. 2017 Jul;470:83-92. doi: 10.1016/j.cca.2017.04.026. Epub 2017 Apr 30. Clin Chim Acta. 2017. PMID: 28465148

6

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

Concolino P, Rizza R, Hackmann K, Minucci A, Scaglione GL, De Bonis M, Costella A, Zuppi C, Schrock E, Capoluongo E. Concolino P, et al. Among authors: scaglione gl. Mol Diagn Ther. 2017 Oct;21(5):539-545. doi: 10.1007/s40291-017-0288-6. Mol Diagn Ther. 2017. PMID: 28620890

7

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

Scaglione GL, Concolino P, De Bonis M, De Paolis E, Minucci A, Ferrandina G, Scambia G, Capoluongo E. Scaglione GL, et al. Int J Mol Sci. 2018 Mar 23;19(4):961. doi: 10.3390/ijms19040961. Int J Mol Sci. 2018. PMID: 29570666 Free PMC article.

8

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

De Bonis M, Minucci A, Scaglione GL, De Paolis E, Zannoni G, Scambia G, Capoluongo E. De Bonis M, et al. Among authors: scaglione gl. Fam Cancer. 2019 Jan;18(1):29-35. doi: 10.1007/s10689-018-0094-2. Fam Cancer. 2019. PMID: 29934687

9

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.

De Bonis M, De Paolis E, Scaglione GL, Fania L, Lavieri MM, Mazzanti C, Di Zenzo G, Minucci A, Capoluongo E. De Bonis M, et al. Among authors: scaglione gl. Exp Mol Pathol. 2019 Jun;108:57-63. doi: 10.1016/j.yexmp.2019.03.009. Epub 2019 Mar 26. Exp Mol Pathol. 2019. PMID: 30926339

10

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

De Paolis E, Scaglione GL, De Bonis M, Minucci A, Capoluongo E. De Paolis E, et al. Among authors: scaglione gl. Clin Chem Lab Med. 2019 Oct 25;57(11):1650-1667. doi: 10.1515/cclm-2018-1208. Clin Chem Lab Med. 2019. PMID: 31188746 Free article. Review.

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