Detalhe da pesquisa
1.
Comprehensive Analysis of PKD1 and PKD2 by Long-Read Sequencing in Autosomal Dominant Polycystic Kidney Disease.
Clin Chem
; 2024 Mar 25.
Artigo
em Inglês
| MEDLINE | ID: mdl-38527221
2.
Molecular characterization of a novel 83.9-kb deletion of the α-globin upstream regulatory elements by long-read sequencing.
Blood Cells Mol Dis
; 103: 102764, 2023 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-37336681
3.
An Effective and Universal Long-Read Sequencing-Based Approach for SMN1 2 + 0 Carrier Screening through Family Trio Analysis.
Clin Chem
; 69(11): 1295-1306, 2023 11 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-37932106
4.
Evaluating the Clinical Utility of a Long-Read Sequencing-Based Approach in Prenatal Diagnosis of Thalassemia.
Clin Chem
; 69(3): 239-250, 2023 03 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-36683393
5.
Comprehensive Analysis of Congenital Adrenal Hyperplasia Using Long-Read Sequencing.
Clin Chem
; 68(7): 927-939, 2022 07 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-35714169
6.
Comprehensive Analysis of Fragile X Syndrome: Full Characterization of the FMR1 Locus by Long-Read Sequencing.
Clin Chem
; 68(12): 1529-1540, 2022 12 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-36171182
7.
The value of single-molecule real-time technology in the diagnosis of rare thalassemia variants and analysis of phenotype-genotype correlation.
J Hum Genet
; 67(4): 183-195, 2022 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-34690349
8.
Analysis of balanced reciprocal translocations in patients with subfertility using single-molecule optical mapping.
J Assist Reprod Genet
; 37(3): 509-516, 2020 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-32026199
9.
An unusual case of thalassemia intermedia with inheritable complex repeats detected by single-molecule optical mapping.
Haematologica
; 109(3): 1000-1006, 2024 Mar 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-37767576
10.
Multiple layers of transcriptional regulation by PLZF in NKT-cell development.
Proc Natl Acad Sci U S A
; 113(27): 7602-7, 2016 07 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-27325774
11.
The ubiquitin ligase RNF5 regulates antiviral responses by mediating degradation of the adaptor protein MITA.
Immunity
; 30(3): 397-407, 2009 Mar 20.
Artigo
em Inglês
| MEDLINE | ID: mdl-19285439
12.
BTB-ZF factors recruit the E3 ligase cullin 3 to regulate lymphoid effector programs.
Nature
; 491(7425): 618-21, 2012 Nov 22.
Artigo
em Inglês
| MEDLINE | ID: mdl-23086144
13.
Correction to: The value of single-molecule real-time technology in the diagnosis of rare thalassemia variants and analysis of phenotype-genotype correlation.
J Hum Genet
; 67(4): 239-243, 2022 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-34815527
14.
Expression and regulation of long noncoding RNAs in TLR4 signaling in mouse macrophages.
BMC Genomics
; 16: 45, 2015 Feb 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-25652569
15.
LSm14A is a processing body-associated sensor of viral nucleic acids that initiates cellular antiviral response in the early phase of viral infection.
Proc Natl Acad Sci U S A
; 109(29): 11770-5, 2012 Jul 17.
Artigo
em Inglês
| MEDLINE | ID: mdl-22745163
16.
Tripartite motif 8 (TRIM8) modulates TNFα- and IL-1ß-triggered NF-κB activation by targeting TAK1 for K63-linked polyubiquitination.
Proc Natl Acad Sci U S A
; 108(48): 19341-6, 2011 Nov 29.
Artigo
em Inglês
| MEDLINE | ID: mdl-22084099
17.
Molecular characterization of similar Hb Lepore Boston-Washington in four Chinese families using third generation sequencing.
Sci Rep
; 14(1): 9966, 2024 04 30.
Artigo
em Inglês
| MEDLINE | ID: mdl-38693200
18.
Third-generation sequencing identified two rare α-chain variants leading to hemoglobin variants in Chinese population.
Mol Genet Genomic Med
; 12(1): e2365, 2024 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-38284449
19.
A high-fidelity long-read sequencing-based approach enables accurate and effective genetic diagnosis of spinal muscular atrophy.
Clin Chim Acta
; 553: 117743, 2024 Jan 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-38158006
20.
Long-read sequencing: An effective method for genetic analysis of CYP21A2 variation in congenital adrenal hyperplasia.
Clin Chim Acta
; 547: 117419, 2023 Jul 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-37276943