Detalhe da pesquisa
1.
Prenatal management of fetal anemia due to pyruvate kinase deficiency: A case report.
Transfusion
; 63(1): 257-262, 2023 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-36349479
2.
Clinically relevant updates of the HbVar database of human hemoglobin variants and thalassemia mutations.
Nucleic Acids Res
; 49(D1): D1192-D1196, 2021 01 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-33125055
3.
Appropriate thresholds for accurate screening for ß-thalassemias in the newborn period: results from a French center for newborn screening.
Clin Chem Lab Med
; 59(1): 209-216, 2020 08 19.
Artigo
em Inglês
| MEDLINE | ID: mdl-32813673
4.
High fetal hemoglobin level is associated with increased risk of cerebral vasculopathy in children with sickle cell disease in Mayotte.
BMC Pediatr
; 20(1): 302, 2020 06 20.
Artigo
em Inglês
| MEDLINE | ID: mdl-32563256
5.
High risk of progression for chronic major organ complications of sickle cell disease in adolescents and young adults: A long-term neonatal cohort study.
Am J Hematol
; 2024 Apr 30.
Artigo
em Inglês
| MEDLINE | ID: mdl-38686944
6.
Addressing the diagnostic gaps in pyruvate kinase deficiency: Consensus recommendations on the diagnosis of pyruvate kinase deficiency.
Am J Hematol
; 94(1): 149-161, 2019 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-30358897
7.
Inherited or acquired modifiers of iron status may dramatically affect the phenotype in dehydrated hereditary stomatocytosis.
Eur J Haematol
; 101(4): 566-569, 2018 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-29969830
8.
Clinical events in a long-term prospective neonatal cohort of children with sickle cell disease: Evidence for a high disease burden without systematic preventive intensification with hydroxyurea.
Am J Hematol
; 98(12): E395-E398, 2023 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-37883505
9.
Prognostic factors of disease severity in infants with sickle cell anemia: A comprehensive longitudinal cohort study.
Am J Hematol
; 93(11): 1411-1419, 2018 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-30132969
10.
Short in-Frame Insertions/Deletions in the Coding Sequence of the α-Globin Gene. Consequences of the 3D Structure and Resulting Phenotypes: Hb Choisy as an Example.
Hemoglobin
; 42(5-6): 287-293, 2018.
Artigo
em Inglês
| MEDLINE | ID: mdl-30700179
11.
Red blood cells free α-haemoglobin pool: a biomarker to monitor the ß-thalassemia intermedia variability. The ALPHAPOOL study.
Br J Haematol
; 179(1): 142-153, 2017 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-28643346
12.
A new gene associated with a ß-thalassemia phenotype: the observation of variants in SUPT5H.
Blood
; 136(15): 1789-1793, 2020 10 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-32589702
13.
Homozygosity for the hyperunstable hemoglobin variant Hb Agrinio (HBA2:c.89T>C) leads to severe antenatal anemia: Eight new cases in three families.
Am J Hematol
; 97(11): E393-E395, 2022 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-36052950
14.
Haematological determinants of cardiac involvement in adults with sickle cell disease.
Eur Heart J
; 37(14): 1158-1167, 2016 Apr 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-26516176
15.
Comprehensive functional annotation of 18 missense mutations found in suspected hemochromatosis type 4 patients.
Hum Mol Genet
; 23(17): 4479-90, 2014 Sep 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-24714983
16.
The genetic basis of asymptomatic codon 8 frame-shift (HBB:c25_26delAA) ß(0) -thalassaemia homozygotes.
Br J Haematol
; 172(6): 958-65, 2016 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-26771086
17.
Hb Savaria [α49(CE7)SerâArg; HBA2: c.150C > A]: A New Case and Complete Description.
Hemoglobin
; 40(4): 267-9, 2016 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-27221333
18.
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
19.
A genetic score for the prediction of beta-thalassemia severity.
Haematologica
; 100(4): 452-7, 2015 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-25480500
20.
Genetic Modifiers of Sickle Cell Disease: A Genotype-Phenotype Relationship Study in a Cohort of 82 Children on Mayotte Island.
Hemoglobin
; 39(3): 156-61, 2015.
Artigo
em Inglês
| MEDLINE | ID: mdl-25806420