Detalhe da pesquisa
1.
Genotype/phenotype correlations of childhood-onset congenital sideroblastic anaemia in a European cohort.
Br J Haematol
; 187(4): 530-542, 2019 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-31338833
2.
Tuning of Differential Lipid Order Between Submicrometric Domains and Surrounding Membrane Upon Erythrocyte Reshaping.
Cell Physiol Biochem
; 48(6): 2563-2582, 2018.
Artigo
em Inglês
| MEDLINE | ID: mdl-30121671
3.
Non syndromic childhood onset congenital sideroblastic anemia: A report of 13 patients identified with an ALAS2 or SLC25A38 mutation.
Blood Cells Mol Dis
; 66: 11-18, 2017 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-28772256
4.
Inherited CARD9 deficiency in otherwise healthy children and adults with Candida species-induced meningoencephalitis, colitis, or both.
J Allergy Clin Immunol
; 135(6): 1558-68.e2, 2015 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-25702837
5.
Outcome of patients with hemoglobinopathies given either cord blood or bone marrow transplantation from an HLA-identical sibling.
Blood
; 122(6): 1072-8, 2013 Aug 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-23692854
6.
Comparative pharmacogenetic analysis of risk polymorphisms in Caucasian and Vietnamese children with acute lymphoblastic leukemia: prediction of therapeutic outcome?
Br J Clin Pharmacol
; 79(3): 429-40, 2015 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-25099492
7.
Risk of complications during hematopoietic stem cell collection in pediatric sibling donors: a prospective European Group for Blood and Marrow Transplantation Pediatric Diseases Working Party study.
Blood
; 119(12): 2935-42, 2012 Mar 22.
Artigo
em Inglês
| MEDLINE | ID: mdl-22160619
8.
Outcome and management of pregnancies in severe chronic neutropenia patients by the European Branch of the Severe Chronic Neutropenia International Registry.
Haematologica
; 99(8): 1395-402, 2014 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-24997149
9.
Comparison of long-term outcome between white and Vietnamese children treated for acute lymphoblastic leukemia according to the FRALLE 2000 protocol.
J Pediatr Hematol Oncol
; 36(7): 534-40, 2014 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-24322500
10.
Micrometric segregation of fluorescent membrane lipids: relevance for endogenous lipids and biogenesis in erythrocytes.
J Lipid Res
; 54(4): 1066-76, 2013 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-23322884
11.
Characterization of insulin resistance in young adult survivors of childhood acute lymphoblastic leukaemia and non-Hodgkin lymphoma.
Clin Endocrinol (Oxf)
; 78(5): 790-8, 2013 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-22967316
12.
Iron overload in children undergoing cancer treatments.
Pediatr Blood Cancer
; 60(12): 1982-7, 2013 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-23897631
13.
Sickle cell anaemia: current therapies.
Transfus Apher Sci
; 49(2): 151-4, 2013 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-23954416
14.
Misdiagnosis as asphyxiating thoracic dystrophy and CMV-associated haemophagocytic lymphohistiocytosis in Shwachman-Diamond syndrome.
Eur J Pediatr
; 172(5): 613-22, 2013 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-23315050
15.
Excellent prognosis of late relapses of ETV6/RUNX1-positive childhood acute lymphoblastic leukemia: lessons from the FRALLE 93 protocol.
Haematologica
; 97(11): 1743-50, 2012 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-22580999
16.
Sideroblastic anemia: molecular analysis of the ALAS2 gene in a series of 29 probands and functional studies of 10 missense mutations.
Hum Mutat
; 32(6): 590-7, 2011 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-21309041
17.
Low penetrance, broad resistance, and favorable outcome of interleukin 12 receptor beta1 deficiency: medical and immunological implications.
J Exp Med
; 197(4): 527-35, 2003 Feb 17.
Artigo
em Inglês
| MEDLINE | ID: mdl-12591909
18.
Development of renal and iliac aneurysms in a child with generalized infantile myofibromatosis.
Pediatr Nephrol
; 25(5): 983-6, 2010 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-19997940
19.
Aberrant Membrane Composition and Biophysical Properties Impair Erythrocyte Morphology and Functionality in Elliptocytosis.
Biomolecules
; 10(8)2020 07 29.
Artigo
em Inglês
| MEDLINE | ID: mdl-32751168
20.
Safety and efficacy of Privigen, a novel 10% liquid immunoglobulin preparation for intravenous use, in patients with primary immunodeficiencies.
J Clin Immunol
; 29(1): 137-44, 2009 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-18814020