Detalhe da pesquisa
1.
Challenging Molecular Diagnosis of Congenital Adrenal Hyperplasia (CAH) Due to 21-Hydroxylase Deficiency: Case Series and Novel Variants of CYP21A2 Gene.
Curr Issues Mol Biol
; 46(5): 4832-4844, 2024 May 16.
Artigo
em Inglês
| MEDLINE | ID: mdl-38785559
2.
Triple Genetic Diagnosis in a Patient with Late-Onset Leukodystrophy and Mild Intellectual Disability.
Int J Mol Sci
; 25(1)2023 Dec 29.
Artigo
em Inglês
| MEDLINE | ID: mdl-38203665
3.
BRCA testing delay during the COVID-19 pandemic: How to act?
Mol Biol Rep
; 48(1): 983-987, 2021 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-33313973
4.
Tumor BRCA testing in ovarian cancer and EQA scheme: our experience of a critical evaluation.
Mol Biol Rep
; 48(12): 8203-8209, 2021 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-34643925
5.
A rare CYP21A2 haplotype clarifies the phenotype-genotype discrepancy in an Italian patient with Non Classical Congenital Adrenal Hyperplasia (NC-CAH).
Mol Biol Rep
; 47(4): 3049-3052, 2020 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-32185686
6.
BRCA testing in a genomic diagnostics referral center during the COVID-19 pandemic.
Mol Biol Rep
; 47(6): 4857-4860, 2020 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-32388698
7.
A novel MEN1 pathogenic variant in an Italian patient with multiple endocrine neoplasia type 1.
Mol Biol Rep
; 47(9): 7313-7316, 2020 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-32808116
8.
Spliceogenic analysis of BRCA1 c.439T>C (rs794727800) variant by High Resolution Melting Analysis.
Mol Biol Rep
; 47(2): 1513-1520, 2020 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-31833030
9.
Large scale multifactorial likelihood quantitative analysis of BRCA1 and BRCA2 variants: An ENIGMA resource to support clinical variant classification.
Hum Mutat
; 40(9): 1557-1578, 2019 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-31131967
10.
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.
Int J Mol Sci
; 20(14)2019 Jul 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-31336956
11.
A Whole Germline BRCA2 Gene Deletion: How to Learn from CNV In Silico Analysis.
Int J Mol Sci
; 19(4)2018 Mar 23.
Artigo
em Inglês
| MEDLINE | ID: mdl-29570666
12.
Characterization of a new BRCA1 rearrangement in an Italian woman with hereditary breast and ovarian cancer syndrome.
Breast Cancer Res Treat
; 164(2): 497-503, 2017 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-28488140
13.
A commentary on the discrepancy between blood and tumour BRCA testing: An open question.
BJOG
; 129(9): 1422-1426, 2022 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-35319826
14.
Advanced tools for BRCA1/2 mutational screening: comparison between two methods for large genomic rearrangements (LGRs) detection.
Clin Chem Lab Med
; 52(8): 1119-27, 2014 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-24670361
15.
Chimeric Genes Causing 11ß-Hydroxylase Deficiency: Implications in Clinical and Molecular Diagnosis.
Mol Diagn Ther
; 28(2): 215-224, 2024 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-38324138
16.
Functional effect of Saffron supplementation and risk genotypes in early age-related macular degeneration: a preliminary report.
J Transl Med
; 11: 228, 2013 Sep 25.
Artigo
em Inglês
| MEDLINE | ID: mdl-24067115
17.
Genetic Characterization of a Cohort of Italian Patients with Congenital Adrenal Hyperplasia Due to 21-Hydroxylase Deficiency.
Mol Diagn Ther
; 27(5): 621-630, 2023 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-37548905
18.
Clinical Reasoning: A Young Man With Subacute Onset of Spastic Paraparesis.
Neurology
; 100(4): 199-205, 2023 Jan 24.
Artigo
em Inglês
| MEDLINE | ID: mdl-36302663
19.
Next-Generation Sequencing for Screening Analysis of Cystic Fibrosis: Spectrum and Novel Variants in a South-Central Italian Cohort.
Genes (Basel)
; 14(8)2023 08 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-37628659
20.
Identification and Molecular Characterization of a Novel Large-Scale Variant (Exons 4_18 Loss) in the LDLR Gene as a Cause of Familial Hypercholesterolaemia in an Italian Family.
Genes (Basel)
; 14(6)2023 06 16.
Artigo
em Inglês
| MEDLINE | ID: mdl-37372455