Detalhe da pesquisa
1.
A PCR-independent approach for mtDNA enrichment and next-generation sequencing: comprehensive evaluation and clinical application.
J Transl Med
; 22(1): 386, 2024 Apr 25.
Artigo
em Inglês
| MEDLINE | ID: mdl-38664838
2.
Comprehensive genetic analysis of facioscapulohumeral muscular dystrophy by Nanopore long-read whole-genome sequencing.
J Transl Med
; 22(1): 451, 2024 May 13.
Artigo
em Inglês
| MEDLINE | ID: mdl-38741136
3.
Reproductive outcomes in couples with recurrent pregnancy loss after embryonic chromosomal microarray analysis.
J Assist Reprod Genet
; 41(1): 161-170, 2024 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-37874532
4.
Enhancing GluN2A-type NMDA receptors impairs long-term synaptic plasticity and learning and memory.
Mol Psychiatry
; 27(8): 3468-3478, 2022 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-35484243
5.
Whole genome sequencing vs chromosomal microarray analysis in prenatal diagnosis.
Am J Obstet Gynecol
; 229(3): 302.e1-302.e18, 2023 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-36907537
6.
Optical genome mapping for detection of chromosomal aberrations in prenatal diagnosis.
Acta Obstet Gynecol Scand
; 102(8): 1053-1062, 2023 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-37366235
7.
A Novel Splice Site Mutation in the FBN2 Gene in a Chinese Family with Congenital Contractural Arachnodactyly.
Biochem Genet
; 2023 Nov 14.
Artigo
em Inglês
| MEDLINE | ID: mdl-37962692
8.
Pregnancy outcomes of rare autosomal trisomies results in non-invasive prenatal screening: clinical follow-up data from a single tertiary centre.
J Cell Mol Med
; 26(8): 2251-2258, 2022 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-35174956
9.
Whole-transcriptome sequencing identifies key mRNAs, miRNAs, lncRNAs, and circRNAs associated with unexplained recurrent pregnancy loss.
Cell Tissue Res
; 389(1): 129-143, 2022 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-35524814
10.
Genetic analysis of a novel SUMF1 variation associated with a late infantile form of multiple sulfatase deficiency.
J Clin Lab Anal
; 36(12): e24786, 2022 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-36441600
11.
Proline-rich transmembrane protein 2 specifically binds to GluA1 but has no effect on AMPA receptor-mediated synaptic transmission.
J Clin Lab Anal
; 36(2): e24196, 2022 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-34997978
12.
[Prenatal diagnosis of fetuses with renal anomalies by whole genome sequencing].
Zhonghua Yi Xue Yi Chuan Xue Za Zhi
; 39(8): 819-823, 2022 Aug 10.
Artigo
em Zh
| MEDLINE | ID: mdl-35929929
13.
AutoCNV: a semiautomatic CNV interpretation system based on the 2019 ACMG/ClinGen Technical Standards for CNVs.
BMC Genomics
; 22(1): 721, 2021 Oct 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-34615484
14.
A joint method for the screening of pharmacological chaperones for phenylalanine hydroxylase.
Org Biomol Chem
; 19(26): 5827-5835, 2021 07 14.
Artigo
em Inglês
| MEDLINE | ID: mdl-34113943
15.
Relationship between amniotic fluid metabolic profile with fetal gender, maternal age, and gestational week.
BMC Pregnancy Childbirth
; 21(1): 638, 2021 Sep 18.
Artigo
em Inglês
| MEDLINE | ID: mdl-34537001
16.
Current attitudes and preconceptions towards expanded carrier screening in the Eastern Chinese reproductive-aged population.
J Assist Reprod Genet
; 38(3): 697-707, 2021 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-33409754
17.
Molecular diagnostic in fetuses with isolated congenital anomalies of the kidney and urinary tract by whole-exome sequencing.
J Clin Lab Anal
; 34(11): e23480, 2020 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-32779812
18.
An enrichment method to increase cell-free fetal DNA fraction and significantly reduce false negatives and test failures for non-invasive prenatal screening: a feasibility study.
J Transl Med
; 17(1): 124, 2019 04 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-30975179
19.
Genetic analysis of 62 Chinese families with Duchenne muscular dystrophy and strategies of prenatal diagnosis in a single center.
BMC Med Genet
; 20(1): 180, 2019 11 14.
Artigo
em Inglês
| MEDLINE | ID: mdl-31727011
20.
Prenatal diagnosis of chromosomal abnormalities using optical genome mapping vs chromosomal microarray.
Am J Obstet Gynecol
; 230(5): e82-e83, 2024 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-38097028