Detalhe da pesquisa
1.
Hb Olivet (HBA1: C.40G > A; p.Ala14Thr), a Novel Silent Hemoglobin Variant in Two Families of Distinct Origin.
Hemoglobin
; 40(5): 349-352, 2016 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-27624280
2.
Hb Lansing (HBA2: c.264C > G) and a new ß promoter transversion [-52 (G > T)]: an attempt to define the phenotype of two mutations found in the Omani population.
Hemoglobin
; 39(2): 111-4, 2015.
Artigo
em Inglês
| MEDLINE | ID: mdl-25826385
3.
Broader spectrum of ß-thalassemia mutations in Oman: regional distribution and comparison with neighboring countries.
Hemoglobin
; 39(2): 107-10, 2015.
Artigo
em Inglês
| MEDLINE | ID: mdl-25677748
4.
Homozygosity for the AATAAA > AATA- - Polyadenylation Site Mutation on the α2-Globin Gene Causing Transfusion-Dependent Hb H Disease in an Iranian Patient: A Case Report.
Hemoglobin
; 39(5): 355-8, 2015.
Artigo
em Inglês
| MEDLINE | ID: mdl-26193977
5.
Molecular spectrum of α-globin gene defects in the Omani population.
Hemoglobin
; 38(6): 422-6, 2014.
Artigo
em Inglês
| MEDLINE | ID: mdl-25370869
6.
Known and new δ-globin gene mutations and other factors influencing Hb A2 measurement in the Omani population.
Hemoglobin
; 38(4): 299-302, 2014.
Artigo
em Inglês
| MEDLINE | ID: mdl-24985928
7.
Characterization of Hb Calvino (HBB: c.406G > A): a new silent ß-globin gene variant found in coexistence with α-thalassemia in a family of African origin.
Hemoglobin
; 38(5): 369-72, 2014.
Artigo
em Inglês
| MEDLINE | ID: mdl-25222042
8.
Mosaic segmental uniparental isodisomy and progressive clonal selection: a common mechanism of late onset ß-thalassemia major.
Haematologica
; 98(5): 691-5, 2013 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-22983591
9.
Exploring the use of expanded erythroid cells for autologous transfusion for anemia of prematurity.
Transfusion
; 53(12): 3230-9, 2013 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-23521158
10.
Hb Treviso [α91(FG3)LeuâPhe (α2)]: a new slightly unstable hemoglobin variant with moderately decreased oxygen affinity.
Hemoglobin
; 37(2): 107-11, 2013.
Artigo
em Inglês
| MEDLINE | ID: mdl-23350769
11.
Fine-tiling array CGH to improve diagnostics for α- and ß-thalassemia rearrangements.
Hum Mutat
; 33(1): 272-80, 2012 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-21922597
12.
A novel α(0) -thalassemia deletion in a Greek patient with HbH disease and ß-thalassemia trait.
Eur J Haematol
; 88(4): 356-62, 2012 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-22324317
13.
Non-invasive prenatal diagnosis of beta-thalassemia and sickle-cell disease using pyrophosphorolysis-activated polymerization and melting curve analysis.
Prenat Diagn
; 32(6): 578-87, 2012 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-22517437
14.
A single-tube multiplex gap-polymerase chain reaction for the detection of eight ß-globin gene cluster deletions common in Southeast Asia.
Hemoglobin
; 36(6): 571-80, 2012.
Artigo
em Inglês
| MEDLINE | ID: mdl-23181748
15.
Towards a prevention program for ß-thalassemia. The molecular spectrum in East Java, Indonesia.
Hemoglobin
; 36(1): 1-6, 2012.
Artigo
em Inglês
| MEDLINE | ID: mdl-22188014
16.
Feasibility of nonselective testing for hemoglobinopathies in early pregnancy in The Netherlands.
Prenat Diagn
; 31(13): 1259-63, 2011 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-22031467
17.
Hb Boskoop [HBA2c.112C>T p.Pro38Ser]: a new α2 chain variant observed in a Morrocan family.
Hemoglobin
; 35(2): 97-102, 2011.
Artigo
em Inglês
| MEDLINE | ID: mdl-21417565
18.
Thalassemia in Western Australia: 11 novel deletions characterized by Multiplex Ligation-dependent Probe Amplification.
Blood Cells Mol Dis
; 44(3): 146-51, 2010 Mar 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-20110179
19.
A new alpha(0)-thalassemia deletion found in a Dutch family (--(AW)).
Blood Cells Mol Dis
; 45(2): 133-5, 2010 Aug 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-20682466
20.
alpha-thalassaemia masked by beta gene defects and a new polyadenylation site mutation on the alpha2-globin gene.
Eur J Haematol
; 84(4): 354-8, 2010 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-19912309