Detalhe da pesquisa
1.
Analysis of complex chromosomal rearrangement involving chromosome 6 via the integration of optical genomic mapping and molecular cytogenetic methodologies.
J Hum Genet
; 69(1): 3-11, 2024 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-37821671
2.
[Accidental discovery of copy number variation on chromosome 1 in a fetus with high risk of trisomy 13 suggested by NIPT].
Zhonghua Yi Xue Yi Chuan Xue Za Zhi
; 40(8): 922-927, 2023 Aug 10.
Artigo
em Chinês
| MEDLINE | ID: mdl-37532489
3.
[Molecular diagnosis and functional study of a pedigree affected with Lubs X-linked mental retardation syndrome].
Zhonghua Yi Xue Yi Chuan Xue Za Zhi
; 36(4): 340-343, 2019 Apr 10.
Artigo
em Chinês
| MEDLINE | ID: mdl-30950021
4.
High levels of circulating cell-free DNA are a biomarker of active SLE.
Eur J Clin Invest
; 48(11): e13015, 2018 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-30079480
5.
Noninvasive prenatal testing for Wilson disease by use of circulating single-molecule amplification and resequencing technology (cSMART).
Clin Chem
; 61(1): 172-81, 2015 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-25376582
6.
Taxifolin attenuates neuroinflammation and microglial pyroptosis via the PI3K/Akt signaling pathway after spinal cord injury.
Int Immunopharmacol
; 114: 109616, 2023 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-36700780
7.
Evaluation and Analysis of Absence of Homozygosity (AOH) Using Chromosome Analysis by Medium Coverage Whole Genome Sequencing (CMA-seq) in Prenatal Diagnosis.
Diagnostics (Basel)
; 13(3)2023 Feb 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-36766665
8.
Detection of Mosaic Absence of Heterozygosity (AOH) Using Low-Pass Whole Genome Sequencing in Prenatal Diagnosis: A Preliminary Report.
Diagnostics (Basel)
; 13(18)2023 Sep 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-37761262
9.
Factors associated with test failure in pregnant women undergoing cell-free DNA-based testing for fetal trisomy.
J Med Screen
; 28(4): 411-418, 2021 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-33884933
10.
Simultaneous Detection of CNVs and SNVs Improves the Diagnostic Yield of Fetuses with Ultrasound Anomalies and Normal Karyotypes.
Genes (Basel)
; 11(12)2020 11 25.
Artigo
em Inglês
| MEDLINE | ID: mdl-33255631
11.
Novel de novo nonsense mutation of the PHEX gene (p.Lys50Ter) in a Chinese patient with hypophosphatemic rickets.
Gene
; 565(1): 150-4, 2015 Jul 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-25839938
12.
Partial trisomy 2q33.3-q37.3 in a patient with an inverted duplicated neocentric marker chromosome.
Mol Cytogenet
; 8: 10, 2015.
Artigo
em Inglês
| MEDLINE | ID: mdl-25774219
13.
Pachygyria, seizures, hypotonia, and growth retardation in a patient with an atypical 1.33Mb inherited microduplication at 22q11.23.
Gene
; 569(1): 46-50, 2015 Sep 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-26099517