Detalhe da pesquisa
1.
SERPINA1 and MAN1B1 polymorphisms are not linked to severe liver disease in a French cohort of alpha-1 antitrypsin deficiency children.
Liver Int
; 37(11): 1608-1611, 2017 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-28887821
2.
G6PD deficiency and absence of α-thalassemia increase the risk for cerebral vasculopathy in children with sickle cell anemia.
Eur J Haematol
; 96(4): 404-8, 2016 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-26072930
3.
Description of Three New α Variants and Four New ß Variants: Hb Montluel [α110(G17)Ala â Val; HBA1: c.332C > T], Hb Cap d'Agde [α131(H14)Ser â Cys; HBA2: c.395C > G] and Hb Corsica [α100(G7)Leu â Pro; HBA1: 302T > C]; Hb Nîmes [ß104(G6)Arg â Gly; HBB: c.313A > G], Hb Saint Marcellin [ß112(G14)Cys â Gly; HBB: c.337T > G], Hb Saint Chamond [ß80(EF4)Asn â 0; HBB: c.241_243delAAC] and Hb Dompierre [ß29(B11)Gly â Arg; HBB: c.88G > C].
Hemoglobin
; 39(3): 147-51, 2015.
Artigo
em Inglês
| MEDLINE | ID: mdl-26100115
4.
A new hemoglobin variant: Hb Meylan [ß73(E17)Asp â Phe; HBB: c.220G>T; c.221A>T] with a double base mutation at the same codon.
Hemoglobin
; 39(1): 46-8, 2015.
Artigo
em Inglês
| MEDLINE | ID: mdl-25476778
5.
Description of the phenotypes of 63 heterozygous, homozygous and compound heterozygous patients carrying the Hb Groene Hart [α119(H2)ProâSer; HBA1: c.358C>T] variant.
Hemoglobin
; 38(1): 64-6, 2014.
Artigo
em Inglês
| MEDLINE | ID: mdl-24111644
6.
A dominant mutation in the gene encoding the erythroid transcription factor KLF1 causes a congenital dyserythropoietic anemia.
Am J Hum Genet
; 87(5): 721-7, 2010 Nov 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-21055716
7.
Two complex associations of an HBD mutation and a rare α hemoglobinopathy.
Hemoglobin
; 37(5): 486-91, 2013.
Artigo
em Inglês
| MEDLINE | ID: mdl-23806011
8.
Two new δ-globin gene variants: Hb A(2)-Saint-Etienne [δ14(A11)LeuâPro (HBD: c.44T>C)] and Hb A(2)-Marseille [δ22(B4) AlaâLys (HBD: c.67G>A;68C>A)].
Hemoglobin
; 37(1): 80-4, 2013.
Artigo
em Inglês
| MEDLINE | ID: mdl-23227922
9.
Human induced pluripotent stem cells can reach complete terminal maturation: in vivo and in vitro evidence in the erythropoietic differentiation model.
Haematologica
; 97(12): 1795-803, 2012 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-22733021
10.
The alpha-globin genotype does not influence sickle cell disease severity in a retrospective cross-validation study of the pediatric severity score.
Eur J Haematol
; 88(1): 61-7, 2012 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-21910753
11.
Genotypic screening of the main opiate-related polymorphisms in a cohort of 139 sickle cell disease patients.
Am J Hematol
; 87(5): 534-6, 2012 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-22430884
12.
A new Frameshift mutation on the α2-globin gene causing αâº-thalassemia: codon 43 (TTC>-TC or TTC>T-C).
Hemoglobin
; 36(5): 508-10, 2012.
Artigo
em Inglês
| MEDLINE | ID: mdl-22738776
13.
Variants in genetic modifiers of ß-thalassemia can help to predict the major or intermedia type of the disease.
Haematologica
; 96(11): 1712-4, 2011 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-21791466
14.
Two new hemoglobin variants: Hb Aix-Les-Bains [ß5(A2)ProâLeu; HBB:c.17 C>T] and Hb Dubai [α122(H5)HisâLeu (α2); HBA2:c.368 A>T].
Hemoglobin
; 35(2): 147-51, 2011.
Artigo
em Inglês
| MEDLINE | ID: mdl-21417572
15.
A novel deletion/insertion caused by a replication error in the ß-globin gene locus control region.
Hemoglobin
; 35(4): 316-22, 2011.
Artigo
em Inglês
| MEDLINE | ID: mdl-21797698
16.
[Place of genotyping in addition to the phenotype and the assay of serum α-1 antitrypsin]. / Place de l'analyse génotypique en complément du phénotype et du dosage de l'α-1 antitrypsine sérique.
Ann Biol Clin (Paris)
; 69(5): 571-6, 2011.
Artigo
em Francês
| MEDLINE | ID: mdl-22008137
17.
The XmnI (G)gamma polymorphism influences hemoglobin F synthesis contrary to BCL11A and HBS1L-MYB SNPs in a cohort of 57 beta-thalassemia intermedia patients.
Blood Cells Mol Dis
; 45(2): 124-7, 2010 Aug 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-20472475
18.
Red blood cell generation from human induced pluripotent stem cells: perspectives for transfusion medicine.
Haematologica
; 95(10): 1651-9, 2010 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-20494935
19.
Severe ß-thalassemia intermedia in a compound heterozygous patient for the -30 (T>A) ß(+)-thalassemia mutation and the δ(0)ß(+)-Senegalese deletion.
Hemoglobin
; 34(5): 505-8, 2010.
Artigo
em Inglês
| MEDLINE | ID: mdl-20854126
20.
Hb Charlieu [alpha106(G13)Leu-->Pro (alpha1)]: a new phenotypically silent hemoglobin variant associated with a mild alpha-thalassemia phenotype.
Hemoglobin
; 34(4): 366-73, 2010.
Artigo
em Inglês
| MEDLINE | ID: mdl-20642334