Zobrazeno 1 - 10
of 48
pro vyhledávání: '"Yu-Wei Jin"'
Publikováno v:
Chinese Medical Journal, Vol 131, Iss 24, Pp 2921-2929 (2018)
Background: Spinal muscular atrophy (SMA) is caused by homozygous deletion or compound heterozygous mutation of survival motor neuron gene 1 (SMN1), which is the key to diagnose SMA. The study was to establish and evaluate a new diagnostic method for
Externí odkaz:
https://doaj.org/article/a501c1a799fe450fa672b25f7bf09495
Publikováno v:
Chinese Medical Journal, Vol 130, Iss 6, Pp 744-746 (2017)
Externí odkaz:
https://doaj.org/article/038d1261fd1a4da083b184b8be0e9dce
Publikováno v:
BMC Medical Genetics, Vol 13, Iss 1, p 86 (2012)
Abstract Background Proximal spinal muscular atrophy (SMA) is a common neuromuscular disorder resulting in death during childhood. Around 81 ~ 95% of SMA cases are a result of homozygous deletions of survival motor neuron gene 1 (SMN1) gene or gene c
Externí odkaz:
https://doaj.org/article/68882a2ecd2c461280e1b84eb22beb10
Akademický článek
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Autor:
Fang Song, Miaomiao Cheng, Hong Wang, Yan-yan Cao, Yu-jin Qu, Jia Wang, Yu-wei Jin, Jin-li Bai
Publikováno v:
Journal of Molecular Neuroscience. 71:112-121
Spinal muscular atrophy (SMA) is an autosomal recessive neuromuscular disorder caused by deletion or subtle variant of survival motor neuron 1 (SMN1) gene. By multiplex ligation-dependent probe amplification, genomic sequencing, and T-A cloning on cD
Autor:
Fang Song, Jin-li Bai, Yu-jin Qu, Hong Wang, Yu-wei Jin, Xiu-shan Ge, Yan-yan Cao, Xiaoyin Peng, Miaomiao Cheng
Publikováno v:
Neuromuscular disorders : NMD. 31(6)
Spinal muscular atrophy (SMA) is a rare neuromuscular disease, which often occurs in childhood. Early SMA treatment may be highly beneficial to SMA patients, their families, and society. However, delayed diagnosis is common. To identify the factors t
To define the relationship between the survival motor neuron 1 gene (SMN1) and SMN2, and explore the variability of these two genes within the generations, SMN1 and SMN2 copy numbers were determined for 227 SMA families. The association analysis indi
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6a25818017215e5cb66f1210c56961fc
https://europepmc.org/articles/PMC7109005/
https://europepmc.org/articles/PMC7109005/
Publikováno v:
Mutation Research/Fundamental and Molecular Mechanisms of Mutagenesis. 806:31-38
Spinal Muscular Atrophy (SMA) results from loss-of-function mutations in the survival of motor neuron 1 (SMN1) gene. Our previous research showed that 40% of variants were nonsense or frameshift variants and SMN1 mRNA levels in the patients carrying
Publikováno v:
Chinese Medical Journal
Chinese Medical Journal, Vol 131, Iss 24, Pp 2921-2929 (2018)
Chinese Medical Journal, Vol 131, Iss 24, Pp 2921-2929 (2018)
Background: Spinal muscular atrophy (SMA) is caused by homozygous deletion or compound heterozygous mutation of survival motor neuron gene 1 (SMN1), which is the key to diagnose SMA. The study was to establish and evaluate a new diagnostic method for
Publikováno v:
2018 15th International Computer Conference on Wavelet Active Media Technology and Information Processing (ICCWAMTIP).
Image segmentation is the foundation of image analysis and scene understanding. In this paper, a novel image segmentation method based on hierarchical region merging's Ncut is proposed. The image is divided into several regions using SLIC firstly. Th