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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.
Identification and molecular characterization of a novel 55-kb deletion recurrent in southern Italy: the Italian (G) γ((A) γδß)°-thalassemia.
Eur J Haematol
; 90(3): 214-9, 2013 Mar.
Artículo
en Inglés
| MEDLINE | ID: mdl-23281611
4.
Molecular mechanisms of a novel ß-thalassaemia mutation due to the duplication of tetranucleotide 'AGCT' at the junction IVS-II/exon 3.
Ann Hematol
; 91(11): 1695-701, 2012 Nov.
Artículo
en Inglés
| MEDLINE | ID: mdl-22824996
5.
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
6.
HbA2-Partinico or delta(A2)Pro-->Thr, a new genetic variation in the delta-globin gene in cis to the beta(+) thal IVS-I-110 G>A, and the heterogeneity of delta-globin alleles in double heterozygotes for beta- and delta-globin gene defects.
Ann Hematol
; 89(2): 127-34, 2010 Feb.
Artículo
en Inglés
| MEDLINE | ID: mdl-19609526
7.
Genotype-phenotype relationship of the δ-thalassemia and Hb A(2) variants: observation of 52 genotypes.
Hemoglobin
; 34(5): 407-23, 2010.
Artículo
en Inglés
| MEDLINE | ID: mdl-20854114
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.
Molecular evidences of single mutational events followed by recurrent crossing-overs in the common delta-globin alleles in the Mediterranean area.
Gene
; 410(1): 129-38, 2008 Feb 29.
Artículo
en Inglés
| MEDLINE | ID: mdl-18221842
10.
Hb Foggia or alpha 117(GH5)Phe -> Ser: a new alpha 2 globin allele affecting the alpha Hb-AHSP interaction.
Haematologica
; 93(1): 141-2, 2008 Jan.
Artículo
en Inglés
| MEDLINE | ID: mdl-18166800
11.
South-Italy ߰-thalassemia: a novel deletion not removing the γ-globin silencing element and with 3' breakpoint in a hsRTVL-H element, associated with ߰-thalassemia and high levels of HbF.
Haematologica
; 98(8): e98-e100, 2013 Aug.
Artículo
en Inglés
| MEDLINE | ID: mdl-23812938
12.
Genotyping for known Mediterranean alpha-thalassemia point mutations using a multiplex amplification refractory mutation system.
Haematologica
; 92(2): 254-5, 2007 Feb.
Artículo
en Inglés
| MEDLINE | ID: mdl-17296579
13.
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
14.
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
15.
Sequence variations of the alpha-globin genes: scanning of high CG content genes with DHPLC and DG-DGGE.
Hum Mutat
; 24(4): 338-49, 2004 Oct.
Artículo
en Inglés
| MEDLINE | ID: mdl-15365991
16.
Beta- and alpha-globin genotypes in Albanian patients affected by beta-globin gene disorders.
Haematologica
; 87(9): 1002-3, 2002 Sep.
Artículo
en Inglés
| MEDLINE | ID: mdl-12217813
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