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
Inglês
| MEDLINE | ID: mdl-34510646
2.
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
Inglês
| MEDLINE | ID: mdl-36555557
3.
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
Inglês
| MEDLINE | ID: mdl-32732363
4.
Submitting Novel Globin Gene Variants to Hemoglobin.
Hemoglobin
; 47(4): 135-136, 2023 Nov.
Artigo
Inglês
| MEDLINE | ID: mdl-37920883
5.
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
Inglês
| MEDLINE | ID: mdl-34406671
6.
Special Issue "Personalized Medicine in Blood Disease of Children".
J Pers Med
; 14(3)2024 Mar 05.
Artigo
Inglês
| MEDLINE | ID: mdl-38541027
7.
Unravelling the Complexity of the +33 C>G [HBB:c.-18C>G] Variant in Beta Thalassemia.
Biomedicines
; 12(2)2024 Jan 27.
Artigo
Inglês
| MEDLINE | ID: mdl-38397898
8.
The changing epidemiology of ß-thalassemia in the Greek-Cypriot population.
Hemoglobin
; 37(5): 435-43, 2013.
Artigo
Inglês
| MEDLINE | ID: mdl-24006929
9.
Sickle cell disease landscape and challenges in the EU: the ERN-EuroBloodNet perspective.
Lancet Haematol
; 10(8): e687-e694, 2023 Aug.
Artigo
Inglês
| MEDLINE | ID: mdl-37451300
10.
Evaluation of in silico predictors on short nucleotide variants in HBA1, HBA2, and HBB associated with haemoglobinopathies.
Elife
; 112022 12 01.
Artigo
Inglês
| MEDLINE | ID: mdl-36453528
11.
Global Globin Network Consensus Paper: Classification and Stratified Roadmaps for Improved Thalassaemia Care and Prevention in 32 Countries.
J Pers Med
; 12(4)2022 Mar 31.
Artigo
Inglês
| MEDLINE | ID: mdl-35455667
12.
Predicting beta-turns and their types using predicted backbone dihedral angles and secondary structures.
BMC Bioinformatics
; 11: 407, 2010 Jul 31.
Artigo
Inglês
| MEDLINE | ID: mdl-20673368
13.
Prediction of backbone dihedral angles and protein secondary structure using support vector machines.
BMC Bioinformatics
; 10: 437, 2009 Dec 22.
Artigo
Inglês
| MEDLINE | ID: mdl-20025785
14.
Genetic Modifiers at the Crossroads of Personalised Medicine for Haemoglobinopathies.
J Clin Med
; 8(11)2019 Nov 09.
Artigo
Inglês
| MEDLINE | ID: mdl-31717530
15.
Editorial: Insights in thalassemia: from genomics to clinical practice.
Front Pediatr
; 11: 1222946, 2023.
Artigo
Inglês
| MEDLINE | ID: mdl-37520048
16.
IthaPhen: An Interactive Database of Genotype-Phenotype Data for Hemoglobinopathies.
Hemasphere
; 7(7): e922, 2023 Jul.
Artigo
Inglês
| MEDLINE | ID: mdl-37359188
17.
Challenges and Opportunities of Precision Medicine in Sickle Cell Disease: Novel European Approach by GenoMed4All Consortium and ERN-EuroBloodNet.
Hemasphere
; 7(3): e844, 2023 Mar.
Artigo
Inglês
| MEDLINE | ID: mdl-36844183
18.
Prevalence of RhD status and clinical application of non-invasive prenatal determination of fetal RHD in maternal plasma: a 5 year experience in Cyprus.
BMC Res Notes
; 9: 198, 2016 Apr 01.
Artigo
Inglês
| MEDLINE | ID: mdl-27036548
19.
The molecular spectrum and distribution of haemoglobinopathies in Cyprus: a 20-year retrospective study.
Sci Rep
; 6: 26371, 2016 05 20.
Artigo
Inglês
| MEDLINE | ID: mdl-27199182
20.
IthaGenes: an interactive database for haemoglobin variations and epidemiology.
PLoS One
; 9(7): e103020, 2014.
Artigo
Inglês
| MEDLINE | ID: mdl-25058394