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1.
Functional analysis of three new alpha-thalassemia deletions involving MCS-R2 reveals the presence of an additional enhancer element in the 5' boundary region.
PLoS Genet
; 19(5): e1010727, 2023 05.
Artículo
en Inglés
| MEDLINE | ID: mdl-37216374
2.
Alpha-Thalassemia in Southern Italy: Characterization of Five New Deletions Removing the Alpha-Globin Gene Cluster.
Int J Mol Sci
; 24(3)2023 Jan 30.
Artículo
en Inglés
| MEDLINE | ID: mdl-36768900
3.
Simplified Criteria for Identification of Familial Hypercholesterolemia in Children: Application in Real Life.
J Cardiovasc Dev Dis
; 11(4)2024 Apr 17.
Artículo
en Inglés
| MEDLINE | ID: mdl-38667741
4.
Impact of 12-SNP and 6-SNP Polygenic Scores on Predisposition to High LDL-Cholesterol Levels in Patients with Familial Hypercholesterolemia.
Genes (Basel)
; 15(4)2024 04 06.
Artículo
en Inglés
| MEDLINE | ID: mdl-38674396
5.
Calprotectin Levels and Neutrophil Count Are Prognostic Markers of Mortality in COVID-19 Patients.
Diagnostics (Basel)
; 12(10)2022 Oct 20.
Artículo
en Inglés
| MEDLINE | ID: mdl-36292243
6.
mRNA Analysis of Frameshift Mutations with Stop Codon in the Last Exon: The Case of Hemoglobins Campania [α1 cod95 (-C)] and Sciacca [α1 cod109 (-C)].
Biomedicines
; 9(10)2021 Oct 04.
Artículo
en Inglés
| MEDLINE | ID: mdl-34680508
7.
WTAP and BIRC3 are involved in the posttranscriptional mechanisms that impact on the expression and activity of the human lactonase PON2.
Cell Death Dis
; 11(5): 324, 2020 05 07.
Artículo
en Inglés
| MEDLINE | ID: mdl-32382056
8.
Effect of Mutations on mRNA and Globin Stability: The Cases of Hb Bernalda/Groene Hart and Hb Southern Italy.
Genes (Basel)
; 11(8)2020 07 31.
Artículo
en Inglés
| MEDLINE | ID: mdl-32751969
9.
Role of nonsense-mediated decay and nonsense-associated altered splicing in the mRNA pattern of two new α-thalassemia mutants.
Int J Biochem Cell Biol
; 91(Pt B): 212-222, 2017 10.
Artículo
en Inglés
| MEDLINE | ID: mdl-28743675
10.
Identification and molecular characterization of a novel 163 kb deletion: The Italian (ϵγδß)(0)-thalassemia.
Hematology
; 21(5): 317-24, 2016 Jun.
Artículo
en Inglés
| MEDLINE | ID: mdl-27077761
11.
α-Thalassemia associated with hb instability: a tale of two features. the case of Hb Rogliano or α1 Cod 108(G15)ThrâAsn and Hb Policoro or α2 Cod 124(H7)SerâPro.
PLoS One
; 10(3): e0115738, 2015.
Artículo
en Inglés
| MEDLINE | ID: mdl-25730315
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