Detalles de la búsqueda
1.
Antisense oligonucleotides targeting the SMN2 promoter region enhance SMN2 expression in spinal muscular atrophy cell lines and mouse model.
Hum Mol Genet
; 31(10): 1635-1650, 2022 05 19.
Artículo
en Inglés
| MEDLINE | ID: mdl-34888619
2.
Transmission characteristics of SMN from 227 spinal muscular atrophy core families in China.
J Hum Genet
; 65(5): 469-473, 2020 May.
Artículo
en Inglés
| MEDLINE | ID: mdl-32051521
3.
[Identification of a novel AGPAT2 variant in a Chinese patient with congenital generalized lipodystrophy type 1].
Zhonghua Yi Xue Yi Chuan Xue Za Zhi
; 37(10): 1158-1161, 2020 Oct 10.
Artículo
en Zh
| MEDLINE | ID: mdl-32924125
4.
[Screening for genetic mutations in hyperphenylalaninemia using Ion Torrent PGM sequencing].
Zhonghua Yi Xue Yi Chuan Xue Za Zhi
; 32(1): 16-20, 2015 Feb.
Artículo
en Zh
| MEDLINE | ID: mdl-25636092
5.
[Analysis of SMN1 gene partial deletion of spinal muscular atrophy based on MLPA].
Zhonghua Yi Xue Za Zhi
; 95(6): 430-4, 2015 Feb 10.
Artículo
en Zh
| MEDLINE | ID: mdl-25916779
6.
Fast clinical molecular diagnosis of hyperphenylalaninemia using next-generation sequencing-based on a custom AmpliSeq™ panel and Ion Torrent PGM sequencing.
Mol Genet Metab
; 113(4): 261-6, 2014 Dec.
Artículo
en Inglés
| MEDLINE | ID: mdl-25456745
7.
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.
Artículo
en Inglés
| MEDLINE | ID: mdl-38158006
8.
Variants located in intron 6 of SMN1 lead to misdiagnosis in genetic detection and screening for SMA.
Heliyon
; 10(6): e28015, 2024 Mar 30.
Artículo
en Inglés
| MEDLINE | ID: mdl-38515714
9.
[Detection of homozygous deletions in spinal muscular atrophy with genomic DNA sequencing].
Zhonghua Yi Xue Yi Chuan Xue Za Zhi
; 30(4): 410-4, 2013 Aug.
Artículo
en Zh
| MEDLINE | ID: mdl-23926006
10.
Novel Alu-mediated deletions of the SMN1 gene were identified by ultra-long read sequencing technology in patients with spinal muscular atrophy.
Neuromuscul Disord
; 33(5): 382-390, 2023 05.
Artículo
en Inglés
| MEDLINE | ID: mdl-37023488
11.
[Limitation of PCR-RFLP method for the detection of genetic mutations in spinal muscular atrophy].
Zhonghua Yi Xue Yi Chuan Xue Za Zhi
; 29(1): 34-7, 2012 Feb.
Artículo
en Zh
| MEDLINE | ID: mdl-22311488
12.
[Analysis of survival motor neuron gene conversion in patients with spinal muscular atrophy].
Zhonghua Yi Xue Yi Chuan Xue Za Zhi
; 28(6): 606-11, 2011 Dec.
Artículo
en Zh
| MEDLINE | ID: mdl-22161088
13.
[Point mutation analysis of SMN1 gene in patients with spinal muscular atrophy].
Zhonghua Yi Xue Yi Chuan Xue Za Zhi
; 28(2): 121-6, 2011 Apr.
Artículo
en Zh
| MEDLINE | ID: mdl-21462119
14.
Factors associated with delayed diagnosis of spinal muscular atrophy in China and changes in diagnostic delay.
Neuromuscul Disord
; 31(6): 519-527, 2021 06.
Artículo
en Inglés
| MEDLINE | ID: mdl-33838997
15.
Dual Mechanism of a New SMN1 Variant (c.835G>C, p.Gly279Arg) by Interrupting Exon 7 Skipping and YG Oligomerization in Causation of Spinal Muscular Atrophy.
J Mol Neurosci
; 71(1): 112-121, 2021 Jan.
Artículo
en Inglés
| MEDLINE | ID: mdl-32812185
16.
[Unbalanced translocation t (5;15) in a patient with Prader-Willi syndrome].
Zhonghua Yi Xue Yi Chuan Xue Za Zhi
; 27(6): 664-7, 2010 Dec.
Artículo
en Zh
| MEDLINE | ID: mdl-21154328
17.
[A study on genetic diagnosis for Angelman syndrome].
Zhonghua Yi Xue Yi Chuan Xue Za Zhi
; 26(5): 495-8, 2009 Oct.
Artículo
en Zh
| MEDLINE | ID: mdl-19806566
18.
Two novel mutations in the ANTXR2 gene in a Chinese patient suffering from hyaline fibromatosis syndrome: A case report.
Mol Med Rep
; 18(4): 4004-4008, 2018 Oct.
Artículo
en Inglés
| MEDLINE | ID: mdl-30152846
19.
The SMN1 common variant c.22 dupA in Chinese patients causes spinal muscular atrophy by nonsense-mediated mRNA decay in humans.
Gene
; 644: 49-55, 2018 Feb 20.
Artículo
en Inglés
| MEDLINE | ID: mdl-29080838
20.
Diagnosis of Spinal Muscular Atrophy: A Simple Method for Quantifying the Relative Amount of Survival Motor Neuron Gene 1/2 Using Sanger DNA Sequencing.
Chin Med J (Engl)
; 131(24): 2921-2929, 2018 Dec 20.
Artículo
en Inglés
| MEDLINE | ID: mdl-30539904