Detalhe da pesquisa
1.
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
2.
Unravelling the Complexity of the +33 C>G [HBB:c.-18C>G] Variant in Beta Thalassemia.
Biomedicines
; 12(2)2024 Jan 27.
Artigo
em Inglês
| MEDLINE | ID: mdl-38397898
3.
A minimal set of SNPs for the noninvasive prenatal diagnosis of ß-thalassaemia.
Ann Hum Genet
; 77(2): 115-24, 2013 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-23362932
4.
ThalassoChip, an array mutation and single nucleotide polymorphism detection tool for the diagnosis of ß-thalassaemia.
Clin Chem Lab Med
; 48(12): 1713-8, 2010 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-20704537
5.
Fast Temperature-Gradient COLD PCR for the enrichment of the paternally inherited SNPs in cell free fetal DNA; an application to non-invasive prenatal diagnosis of ß-thalassaemia.
PLoS One
; 13(7): e0200348, 2018.
Artigo
em Inglês
| MEDLINE | ID: mdl-30044883
6.
Noninvasive prenatal diagnostic assay for the detection of beta-thalassemia.
Ann N Y Acad Sci
; 1075: 148-53, 2006 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-17108205
7.
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
em Inglês
| MEDLINE | ID: mdl-27036548
8.
The molecular spectrum and distribution of haemoglobinopathies in Cyprus: a 20-year retrospective study.
Sci Rep
; 6: 26371, 2016 05 20.
Artigo
em Inglês
| MEDLINE | ID: mdl-27199182
9.
Next generation sequencing of SNPs for non-invasive prenatal diagnosis: challenges and feasibility as illustrated by an application to ß-thalassaemia.
Eur J Hum Genet
; 21(12): 1403-10, 2013 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-23572027
10.
Arrayed primer extension for the noninvasive prenatal diagnosis of beta-thalassemia based on detection of single nucleotide polymorphisms.
Ann N Y Acad Sci
; 1137: 302-8, 2008 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-18837964
11.
An overview of current microarray-based human globin gene mutation detection methods.
Hemoglobin
; 31(3): 289-311, 2007.
Artigo
em Inglês
| MEDLINE | ID: mdl-17654067