Detalhe da pesquisa
1.
The SKIV2L RNA exosome limits activation of the RIG-I-like receptors.
Nat Immunol
; 15(9): 839-45, 2014 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-25064072
2.
Pubertal development of transfusion-dependent thalassemia patients in the era of oral chelation with deferasirox: results from the French registry.
Haematologica
; 2024 Feb 22.
Artigo
em Inglês
| MEDLINE | ID: mdl-38385265
3.
ß-Thalassemia in childhood: Current state of health in a high-income country.
Br J Haematol
; 201(2): 334-342, 2023 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-36606625
4.
Transfusion requirements and complication rate in ß-thalassemia intermedia due to heterozygous ß-globin gene mutation and triplicated α-globin genes.
Eur J Haematol
; 111(5): 742-747, 2023 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-37519097
5.
Loss-of-Function Mutations in UNC45A Cause a Syndrome Associating Cholestasis, Diarrhea, Impaired Hearing, and Bone Fragility.
Am J Hum Genet
; 102(3): 364-374, 2018 03 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-29429573
6.
Genetic Enteropathies Linked to Epithelial Structural Abnormalities and Enteroendocrine Deficiency: A Systematic Review.
J Pediatr Gastroenterol Nutr
; 72(6): 826-832, 2021 06 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-33976085
7.
Three Mexican Families with ß thalassemia intermedia with different molecular basis.
Genet Mol Biol
; 42(4): e20190032, 2020.
Artigo
em Inglês
| MEDLINE | ID: mdl-32142096
8.
Clinical and biological features in PIEZO1-hereditary xerocytosis and Gardos channelopathy: a retrospective series of 126 patients.
Haematologica
; 104(8): 1554-1564, 2019 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-30655378
9.
Further delineation of the MECP2 duplication syndrome phenotype in 59 French male patients, with a particular focus on morphological and neurological features.
J Med Genet
; 55(6): 359-371, 2018 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-29618507
10.
Tricho-Hepato-Enteric Syndrome mutation update: Mutations spectrum of TTC37 and SKIV2L, clinical analysis and future prospects.
Hum Mutat
; 39(6): 774-789, 2018 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-29527791
11.
Newborn screening for sickle cell disease in Europe: recommendations from a Pan-European Consensus Conference.
Br J Haematol
; 183(4): 648-660, 2018 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-30334577
12.
Late effects after hematopoietic stem cell transplantation for ß-thalassemia major: the French national experience.
Haematologica
; 103(7): 1143-1149, 2018 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-29599204
13.
A new mutation in the C-terminal end of TTC37 leading to a mild form of syndromic diarrhea/tricho-hepato-enteric syndrome in seven patients from two families.
Am J Med Genet A
; 176(3): 727-732, 2018 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-29383842
14.
A novel SUPT5H variant associated with a beta-thalassaemia trait.
Br J Haematol
; 196(6): e70-e71, 2022 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-34854076
15.
High Aspect Ratio Sub-Micrometer Channels Using Wet Etching: Application to the Dynamics of Red Blood Cell Transiting through Biomimetic Splenic Slits.
Small
; 13(32)2017 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-28649736
16.
A mutation in the Gardos channel is associated with hereditary xerocytosis.
Blood
; 126(11): 1273-80, 2015 Sep 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-26148990
17.
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
18.
IBD-Like Features in Syndromic Diarrhea/Trichohepatoenteric Syndrome.
J Pediatr Gastroenterol Nutr
; 64(1): 37-41, 2017 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-28027214
19.
Mutations in BCAP31 cause a severe X-linked phenotype with deafness, dystonia, and central hypomyelination and disorganize the Golgi apparatus.
Am J Hum Genet
; 93(3): 579-86, 2013 Sep 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-24011989
20.
Advances in understanding the pathogenesis of the red cell volume disorders.
Br J Haematol
; 174(5): 674-85, 2016 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-27353637