Detalhe da pesquisa
1.
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
2.
Long-term follow-up of subtotal splenectomy for hereditary spherocytosis: a single-center study.
Blood
; 127(12): 1616-8, 2016 Mar 24.
Artigo
em Inglês
| MEDLINE | ID: mdl-26773041
3.
Subtotal and total splenectomy for hereditary pyropoikilocytosis: Benefits and outcomes.
Am J Hematol
; 93(10): E340-E342, 2018 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-30035308
4.
A somatic mosaicism in the G6PD gene inducing a late onset chronic non-spherocytic hemolytic anemia.
Am J Hematol
; 92(8): E153-E155, 2017 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-28395132
5.
Role of the interaction between Lu/BCAM and the spectrin-based membrane skeleton in the increased adhesion of hereditary spherocytosis red cells to laminin.
Br J Haematol
; 148(3): 456-65, 2010 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-20092464
6.
Band 3 Courcouronnes (Ser667Phe): a trafficking mutant differentially rescued by wild-type band 3 and glycophorin A.
Blood
; 111(11): 5380-9, 2008 Jun 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-18174378
7.
Genetic variants in the noncoding region of RPS19 gene in Diamond-Blackfan anemia: potential implications for phenotypic heterogeneity.
Am J Hematol
; 85(2): 111-6, 2010 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-20054847
8.
Disorders of sex development and Diamond-Blackfan anemia: is there an association?
Pediatr Nephrol
; 25(7): 1255-61, 2010 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-20358230
9.
[Diamond-Blackfan anemia reveals the dark side of ribosome biogenesis]. / Anémie de Diamond-Blackfan: le côté obscur de la biogenèse des ribosomes.
Med Sci (Paris)
; 25(1): 69-76, 2009 Jan.
Artigo
em Francês
| MEDLINE | ID: mdl-19154697
10.
Study of the effects of proteasome inhibitors on ribosomal protein S19 (RPS19) mutants, identified in patients with Diamond-Blackfan anemia.
Haematologica
; 93(11): 1627-34, 2008 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-18768533
11.
Association between myeloid malignancies and acquired deficit in protein 4.1R: a retrospective analysis of six patients.
Am J Hematol
; 83(4): 275-8, 2008 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-17994571
12.
[A center in Paris for screening and counselling sickle cell patients and carriers]. / Centre d'information et de dépistage de la drépanocytose a Paris.
Bull Acad Natl Med
; 192(7): 1349-59; discussion 1359-60, 2008 Oct.
Artigo
em Francês
| MEDLINE | ID: mdl-19445361
13.
High-risk pregnancies in Diamond-Blackfan anemia: a survey of 64 pregnancies from the French and German registries.
Haematologica
; 91(4): 530-3, 2006 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-16537118
14.
Incidence of hereditary spherocytosis in a population of jaundiced neonates.
Pediatr Hematol Oncol
; 23(5): 387-97, 2006.
Artigo
em Inglês
| MEDLINE | ID: mdl-16728359
15.
Nonsense-mediated and nonstop decay of ribosomal protein S19 mRNA in Diamond-Blackfan anemia.
Hum Mutat
; 24(6): 526-33, 2004 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-15523650
16.
Ten novel Diamond-Blackfan anemia mutations and three polymorphisms within the rps19 gene.
Hematol J
; 4(2): 132-6, 2003.
Artigo
em Inglês
| MEDLINE | ID: mdl-12750732
17.
Congenital dyserythropoietic anemias.
Hematol J
; 5 Suppl 3: S191-4, 2004.
Artigo
em Inglês
| MEDLINE | ID: mdl-15190307
18.
Dehydrated hereditary stomatocytosis mimicking familial hyperkalaemic hypertension: clinical and genetic investigation.
Eur J Haematol
; 78(3): 253-9, 2007 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-17253968
19.
Detection of 28 novel mutations in the Wiskott-Aldrich syndrome and X-linked thrombocytopenia based on multiplex PCR.
Blood Cells Mol Dis
; 39(1): 102-6, 2007.
Artigo
em Inglês
| MEDLINE | ID: mdl-17400488
20.
Impaired ribosome biogenesis in Diamond-Blackfan anemia.
Blood
; 109(3): 1275-83, 2007 Feb 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-17053056