Detalhe da pesquisa
1.
Primary antibody deficiency: The impact on the quality of life and mental health of affected children and their parents.
Acta Paediatr
; 110(5): 1645-1652, 2021 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-33420742
2.
Thymus transplantation for complete DiGeorge syndrome: European experience.
J Allergy Clin Immunol
; 140(6): 1660-1670.e16, 2017 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-28400115
3.
Primary immunodeficiency diseases: Genomic approaches delineate heterogeneous Mendelian disorders.
J Allergy Clin Immunol
; 139(1): 232-245, 2017 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-27577878
4.
PGM3 mutations cause a congenital disorder of glycosylation with severe immunodeficiency and skeletal dysplasia.
Am J Hum Genet
; 95(1): 96-107, 2014 Jul 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-24931394
5.
Allogeneic hematopoietic stem cell transplant outcomes for patients with dominant negative IKZF1/IKAROS mutations.
J Allergy Clin Immunol
; 144(1): 339-342, 2019 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-30965037
6.
A combined immunodeficiency with severe infections, inflammation, and allergy caused by ARPC1B deficiency.
J Allergy Clin Immunol
; 143(6): 2296-2299, 2019 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-30771411
7.
Second-Tier Next Generation Sequencing Integrated in Nationwide Newborn Screening Provides Rapid Molecular Diagnostics of Severe Combined Immunodeficiency.
Front Immunol
; 11: 1417, 2020.
Artigo
em Inglês
| MEDLINE | ID: mdl-32754152
8.
A novel disorder involving dyshematopoiesis, inflammation, and HLH due to aberrant CDC42 function.
J Exp Med
; 216(12): 2778-2799, 2019 12 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-31601675
9.
Genetic variation in sodium-dependent vitamin C transporters SLC23A1 and SLC23A2 and risk of advanced colorectal adenoma.
Nutr Cancer
; 60(5): 652-9, 2008.
Artigo
em Inglês
| MEDLINE | ID: mdl-18791929
10.
Targeted high-throughput sequencing for genetic diagnostics of hemophagocytic lymphohistiocytosis.
Genome Med
; 7: 130, 2015 Dec 18.
Artigo
em Inglês
| MEDLINE | ID: mdl-26684649
11.
Genetic variation in the sodium-dependent vitamin C transporters, SLC23A1, and SLC23A2 and risk for preterm delivery.
Am J Epidemiol
; 163(3): 245-54, 2006 Feb 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-16357110
12.
Risk of spontaneous preterm birth is associated with common proinflammatory cytokine polymorphisms.
Epidemiology
; 16(4): 469-77, 2005 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-15951664
13.
Risk of small-for-gestational age is associated with common anti-inflammatory cytokine polymorphisms.
Epidemiology
; 16(4): 478-86, 2005 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-15951665
14.
Comparison of the genomic structure and variation in the two human sodium-dependent vitamin C transporters, SLC23A1 and SLC23A2.
Hum Genet
; 115(4): 285-94, 2004 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-15316768
15.
Association between chronic disseminated candidiasis in adult acute leukemia and common IL4 promoter haplotypes.
J Infect Dis
; 187(7): 1153-6, 2003 Apr 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-12660931
16.
Genomic and functional analysis of the sodium-dependent vitamin C transporter SLC23A1-SVCT1.
Genes Nutr
; 2(1): 143-5, 2007 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-18850166