Detalhe da pesquisa
1.
Adapting the ACMG/AMP variant classification framework: A perspective from the ClinGen Hemoglobinopathy Variant Curation Expert Panel.
Hum Mutat
; 43(8): 1089-1096, 2022 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-34510646
2.
Optimized Droplet Digital PCR Assay on Cell-Free DNA Samples for Non-Invasive Prenatal Diagnosis: Application to Beta-Thalassemia.
Clin Chem
; 68(8): 1053-1063, 2022 07 27.
Artigo
em Inglês
| MEDLINE | ID: mdl-35652459
3.
CRISPR Editing Enables Consequential Tag-Activated MicroRNA-Mediated Endogene Deactivation.
Int J Mol Sci
; 23(3)2022 Jan 19.
Artigo
em Inglês
| MEDLINE | ID: mdl-35163006
4.
A Novel Tool for the Analysis and Detection of Copy Number Variants Associated with Haemoglobinopathies.
Int J Mol Sci
; 23(24)2022 Dec 14.
Artigo
em Inglês
| MEDLINE | ID: mdl-36555557
5.
Effect of HBB genotype on survival in a cohort of transfusion-dependent thalassemia patients in Cyprus.
Haematologica
; 106(9): 2458-2468, 2021 09 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-32732363
6.
Distinct miRNA Signatures and Networks Discern Fetal from Adult Erythroid Differentiation and Primary from Immortalized Erythroid Cells.
Int J Mol Sci
; 22(7)2021 Mar 31.
Artigo
em Inglês
| MEDLINE | ID: mdl-33807258
7.
Acid Ceramidase Depletion Impairs Neuronal Survival and Induces Morphological Defects in Neurites Associated with Altered Gene Transcription and Sphingolipid Content.
Int J Mol Sci
; 21(5)2020 Feb 26.
Artigo
em Inglês
| MEDLINE | ID: mdl-32111095
8.
Relative and Absolute Quantification of Aberrant and Normal Splice Variants in HBBIVSI-110 (G > A) ß-Thalassemia.
Int J Mol Sci
; 21(18)2020 Sep 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-32933098
9.
A novel mutation in the erythroid transcription factor KLF1 is likely responsible for ameliorating ß-thalassemia major.
Hum Mutat
; 40(10): 1768-1780, 2019 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-31115947
10.
2'-O-methoxyethyl splice-switching oligos correct splicing from IVS2-745 ß-thalassemia patient cells restoring HbA production and chain rebalance.
Haematologica
; 106(5): 1433-1442, 2019 May 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-32439726
11.
57Fe enrichment in mice for ß-thalassaemia studies via Mössbauer spectroscopy of blood samples.
Eur Biophys J
; 48(7): 635-643, 2019 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-31302726
12.
MS-275 Chemical Analogues Promote Hemoglobin Production and Erythroid Differentiation of K562 Cells.
Hemoglobin
; 43(2): 116-121, 2019 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-31280628
13.
Newborn screening for sickle cell disease in Europe: recommendations from a Pan-European Consensus Conference.
Br J Haematol
; 183(4): 648-660, 2018 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-30334577
14.
First study on iron complexes in blood and organ samples from thalassaemic and normal laboratory mice using Mössbauer spectroscopy.
Eur Biophys J
; 47(2): 131-138, 2018 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-28695249
15.
Plerixafor+G-CSF-mobilized CD34+ cells represent an optimal graft source for thalassemia gene therapy.
Blood
; 126(5): 616-9, 2015 Jul 30.
Artigo
em Inglês
| MEDLINE | ID: mdl-26089395
16.
Suitability of small diagnostic peripheral-blood samples for cell-therapy studies.
Cytotherapy
; 19(2): 311-326, 2017 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-28088294
17.
The investigation of resveratrol and analogs as potential inducers of fetal hemoglobin.
Blood Cells Mol Dis
; 58: 6-12, 2016 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-27067481
18.
Sex-specific transcriptional profiles identified in ß-thalassemia patients.
Haematologica
; 106(4): 1207-1211, 2021 04 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-32817281
19.
The International Hemoglobinopathy Research Network (INHERENT): An international initiative to study the role of genetic modifiers in hemoglobinopathies.
Am J Hematol
; 96(11): E416-E420, 2021 11 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-34406671
20.
The Molecular Basis of α-Thalassemia in the Qatari Pediatric Population.
Hemoglobin
; 39(5): 350-4, 2015.
Artigo
em Inglês
| MEDLINE | ID: mdl-26161810