Detalhe da pesquisa
1.
Spectrum of LYST mutations in Chediak-Higashi syndrome: a report of novel variants and a comprehensive review of the literature.
J Med Genet
; 61(3): 212-223, 2024 Feb 21.
Artigo
em Inglês
| MEDLINE | ID: mdl-37788905
2.
Refractory iron-deficiency anemia and autoimmune atrophic gastritis in pediatric age group: analysis of 8 clinical cases.
J Pediatr Hematol Oncol
; 36(2): 134-9, 2014 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-24327126
3.
Origin, functional role, and clinical impact of Fanconi anemia FANCA mutations.
Blood
; 117(14): 3759-69, 2011 Apr 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-21273304
4.
Iron deficiency anemia due to lymphocytic gastritis with Helicobacter pylori infection in childhood: case report.
J Pediatr Hematol Oncol
; 35(4): 321-2, 2013 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-23528908
5.
Fosfomycin increases chromosome instability in lymphocytes from Fanconi Anemia patients.
Mutat Res
; 754(1-2): 58-62, 2013 Jun 14.
Artigo
em Inglês
| MEDLINE | ID: mdl-23624100
6.
Adams-Oliver syndrome and portal hypertension: fortuitous association or common mechanism?
Am J Med Genet A
; 158A(3): 648-51, 2012 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-22307742
7.
Infantile pyknocytosis: an under-recognized form of neonatal hemolytic anemia?
Lab Hematol
; 18(4): 27-9, 2012 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-23253864
8.
Hb Iberia [α104(G11)Cys â Arg,TGC>CGC (α2) (HBA2:c.313T>C)], a new α-thalassemic hemoglobin variant found in the Iberian Peninsula: report of six cases.
Hemoglobin
; 36(6): 517-25, 2012.
Artigo
em Inglês
| MEDLINE | ID: mdl-23181747
9.
Complementary markers for the clinical severity classification of hereditary spherocytosis in unsplenectomized patients.
Blood Cells Mol Dis
; 46(2): 166-70, 2011 Feb 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-21138793
10.
FAS-L, IL-10, and double-negative CD4- CD8- TCR alpha/beta+ T cells are reliable markers of autoimmune lymphoproliferative syndrome (ALPS) associated with FAS loss of function.
Blood
; 113(13): 3027-30, 2009 Mar 26.
Artigo
em Inglês
| MEDLINE | ID: mdl-19176318
11.
From blood film to the diagnosis of rare hereditary disorders.
Br J Haematol
; 168(3): 315, 2015 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-25322810
12.
Erythrocyte membrane protein destabilization versus clinical outcome in 160 Portuguese Hereditary Spherocytosis patients.
Br J Haematol
; 149(5): 785-94, 2010 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-20346007
13.
Different haematological picture of congenital sideroblastic anaemia in a hemizygote and a heterozygote.
Br J Haematol
; 166(4): 469, 2014 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-24862439
14.
Presence of cytosolic peroxiredoxin 2 in the erythrocyte membrane of patients with hereditary spherocytosis.
Blood Cells Mol Dis
; 41(1): 5-9, 2008.
Artigo
em Inglês
| MEDLINE | ID: mdl-18387321
15.
Audiologic abnormalities of Fanconi anaemia.
Acta Otolaryngol
; 128(9): 992-6, 2008 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-19086307
16.
Two novel mutations in the tmprss6 gene associated with iron-refractory iron-deficiency anaemia (irida) and partial expression in the heterozygous form.
Br J Haematol
; 158(5): 668-72, 2012 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-22765023
17.
Erythrophagocytosis by neutrophils in paroxysmal cold haemoglobinuria.
Eur J Haematol
; 89(4): 371, 2012 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-22823511
18.
Increased red cell distribution width in Fanconi anemia: a novel marker of stress erythropoiesis.
Orphanet J Rare Dis
; 11(1): 102, 2016 07 25.
Artigo
em Inglês
| MEDLINE | ID: mdl-27456001
19.
Hereditary spherocytosis and the (TA)nTAA polymorphism of UGT1A1 gene promoter region--a comparison of the bilirubin plasmatic levels in the different clinical forms.
Blood Cells Mol Dis
; 44(2): 117-9, 2010.
Artigo
em Inglês
| MEDLINE | ID: mdl-19931474
20.
Epigenetic Alterations in Fanconi Anaemia: Role in Pathophysiology and Therapeutic Potential.
PLoS One
; 10(10): e0139740, 2015.
Artigo
em Inglês
| MEDLINE | ID: mdl-26466379