Detalhe da pesquisa
1.
Leveraging Unique Chromosomal Microarray Probes to Accurately Detect Copy Number at the Highly Homologous 15q15.3 Deafness-Infertility Syndrome Locus.
Clin Chem
; 69(6): 583-594, 2023 06 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-37022747
2.
Molecular characterization of pathogenic OTOA gene conversions in hearing loss patients.
Hum Mutat
; 42(4): 373-377, 2021 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-33492714
3.
Allele-Specific Droplet Digital PCR Combined with a Next-Generation Sequencing-Based Algorithm for Diagnostic Copy Number Analysis in Genes with High Homology: Proof of Concept Using Stereocilin.
Clin Chem
; 64(4): 705-714, 2018 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-29339441
4.
MUC5B promoter polymorphism and interstitial lung abnormalities.
N Engl J Med
; 368(23): 2192-200, 2013 Jun 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-23692170
5.
Genome-wide imputation study identifies novel HLA locus for pulmonary fibrosis and potential role for auto-immunity in fibrotic idiopathic interstitial pneumonia.
BMC Genet
; 17(1): 74, 2016 06 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-27266705
6.
Rare variants in RTEL1 are associated with familial interstitial pneumonia.
Am J Respir Crit Care Med
; 191(6): 646-55, 2015 Mar 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-25607374
7.
Relationship between gene expression and lung function in Idiopathic Interstitial Pneumonias.
BMC Genomics
; 16: 869, 2015 Oct 26.
Artigo
em Inglês
| MEDLINE | ID: mdl-26503507
8.
The role of bacteria in the pathogenesis and progression of idiopathic pulmonary fibrosis.
Am J Respir Crit Care Med
; 190(8): 906-13, 2014 Oct 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-25184687
9.
Relationship of DNA methylation and gene expression in idiopathic pulmonary fibrosis.
Am J Respir Crit Care Med
; 190(11): 1263-72, 2014 Dec 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-25333685
10.
Expression of cilium-associated genes defines novel molecular subtypes of idiopathic pulmonary fibrosis.
Thorax
; 68(12): 1114-21, 2013 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-23783374
11.
Association between the MUC5B promoter polymorphism and survival in patients with idiopathic pulmonary fibrosis.
JAMA
; 309(21): 2232-9, 2013 Jun 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-23695349
12.
Mycobacterium tuberculosis Rv2224c modulates innate immune responses.
Proc Natl Acad Sci U S A
; 105(1): 264-9, 2008 Jan 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-18172199
13.
Expanding the Noonan spectrum/RASopathy NGS panel: Benefits of adding NF1 and SPRED1.
Mol Genet Genomic Med
; 8(4): e1180, 2020 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-32107864
14.
A Role for Chromosomal Microarray Testing in the Workup of Male Infertility.
J Mol Diagn
; 22(9): 1189-1198, 2020 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-32615168
15.
The MUC5B promoter polymorphism is associated with idiopathic pulmonary fibrosis in a Mexican cohort but is rare among Asian ancestries.
Chest
; 147(2): 460-464, 2015 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-25275363
16.
MUC5B expression and location in surfactant protein C mutations in children.
Pediatr Pulmonol
; 50(12): 1270-6, 2015 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-25858779
17.
Genome-wide association study identifies multiple susceptibility loci for pulmonary fibrosis.
Nat Genet
; 45(6): 613-20, 2013 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-23583980
18.
The pulmonary fibrosis-associated MUC5B promoter polymorphism does not influence the development of interstitial pneumonia in systemic sclerosis.
Chest
; 142(6): 1584-1588, 2012 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-22576636