Detalhe da pesquisa
1.
Novel manifestations of immune dysregulation and granule defects in gray platelet syndrome.
Blood
; 136(17): 1956-1967, 2020 10 22.
Artigo
em Inglês
| MEDLINE | ID: mdl-32693407
2.
Germline mutations in the transcription factor IKZF5 cause thrombocytopenia.
Blood
; 134(23): 2070-2081, 2019 12 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-31217188
3.
Next-generation sequencing for the diagnosis of MYH9-RD: Predicting pathogenic variants.
Hum Mutat
; 41(1): 277-290, 2020 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-31562665
4.
ADA2 deficiency complicated by EBV-driven lymphoproliferative disease.
Clin Immunol
; 215: 108443, 2020 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-32353633
5.
Rare variants in GP1BB are responsible for autosomal dominant macrothrombocytopenia.
Blood
; 129(4): 520-524, 2017 01 26.
Artigo
em Inglês
| MEDLINE | ID: mdl-28064200
6.
A gain-of-function variant in DIAPH1 causes dominant macrothrombocytopenia and hearing loss.
Blood
; 127(23): 2903-14, 2016 06 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-26912466
7.
A high-throughput sequencing test for diagnosing inherited bleeding, thrombotic, and platelet disorders.
Blood
; 127(23): 2791-803, 2016 06 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-27084890
8.
Bayesian Inference Associates Rare KDR Variants with Specific Phenotypes in Pulmonary Arterial Hypertension.
Circ Genom Precis Med
; 2020 Dec 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-33320693
9.
A dominant gain-of-function mutation in universal tyrosine kinase SRC causes thrombocytopenia, myelofibrosis, bleeding, and bone pathologies.
Sci Transl Med
; 8(328): 328ra30, 2016 Mar 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-26936507
10.
Human phenotype ontology annotation and cluster analysis to unravel genetic defects in 707 cases with unexplained bleeding and platelet disorders.
Genome Med
; 7(1): 36, 2015.
Artigo
em Inglês
| MEDLINE | ID: mdl-25949529
11.
Common genetic variants do not associate with CAD in familial hypercholesterolemia.
Eur J Hum Genet
; 22(6): 809-13, 2014 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-24219970
12.
SMIM1 underlies the Vel blood group and influences red blood cell traits.
Nat Genet
; 45(5): 542-545, 2013 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-23563608
13.
Compound inheritance of a low-frequency regulatory SNP and a rare null mutation in exon-junction complex subunit RBM8A causes TAR syndrome.
Nat Genet
; 44(4): 435-9, S1-2, 2012 Feb 26.
Artigo
em Inglês
| MEDLINE | ID: mdl-22366785
14.
Generation and characterization of a live attenuated enterotoxigenic Escherichia coli combination vaccine expressing six colonization factors and heat-labile toxin subunit B.
Clin Vaccine Immunol
; 18(12): 2128-35, 2011 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-21994355
15.
Stabilization of a plasmid coding for a heterologous antigen in Salmonella enterica serotype typhi vaccine strain CVD908-htrA by using site-specific recombination.
Infect Immun
; 74(7): 4383-6, 2006 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-16790817
16.
Construction and phase I clinical evaluation of the safety and immunogenicity of a candidate enterotoxigenic Escherichia coli vaccine strain expressing colonization factor antigen CFA/I.
Infect Immun
; 74(2): 1062-71, 2006 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-16428753