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Electroacupuncture Zusanli (ST36) Relieves Somatic Pain in Colitis Rats by Inhibiting Dorsal Root Ganglion Sympathetic-Sensory Coupling and Neurogenic Inflammation

Neural plasticity, 2023-03, Vol.2023, p.9303419-12

2023

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Diagnosis of Spinal Muscular Atrophy: A Simple Method for Quantifying the Relative Amount of Survival Motor Neuron Gene 1/2 Using Sanger DNA Sequencing

Chinese medical journal, 2018-12, Vol.131 (24), p.2921-2929

2018

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A rare variant (c.863G>T) in exon 7 of SMN1 disrupts mRNA splicing and is responsible for spinal muscular atrophy

European journal of human genetics : EJHG, 2016-06, Vol.24 (6), p.864-870

2016

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Fast clinical molecular diagnosis of hyperphenylalaninemia using next-generation sequencing-based on a custom AmpliSeq™ panel and Ion Torrent PGM sequencing

Molecular genetics and metabolism, 2014-12, Vol.113 (4), p.261-266

2014

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Association between SMN2 methylation and disease severity in Chinese children with spinal muscular atrophy

Journal of Zhejiang University. B. Science, 2016, Vol.17 (1), p.76-82

2016

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Mosaicism of Tetrasomy 18p: Clinical and Cytogenetic Findings in a Female Child

Chinese medical journal, 2017-03, Vol.130 (6), p.744-746

2017

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Subtle mutations in the SMN1 gene in Chinese patients with SMA: p.Arg288Met mutation causing SMN1 transcript exclusion of exon7

BMC medical genetics, 2012-09, Vol.13 (1), p.86-86, Article 86

2012

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osaicism of Tetrasomy 18p： Clinical and Cytogenetic Findings in a Female Child

中华医学杂志：英文版, 2017, Vol.130 (6), p.744-746

Jin-Li Bai Yu-Wei Jin Yu-Jin Qu Hong Wang Yan-Yan Cao Fang Song

2017

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Compound heterozygous mutation in two unrelated cases of Chinese spinal muscular atrophy patients

Chinese medical journal, 2011-02, Vol.124 (3), p.385-389

2011

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Mutation Spectrum of the Survival of Motor Neuron 1 and Functional Analysis of Variants in Chinese Spinal Muscular Atrophy

The Journal of molecular diagnostics : JMD, 2016-09, Vol.18 (5), p.741-752

2016

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Electroacupuncture at Sensitized Acupoints Relieves Somatic Referred Pain in Colitis Rats by Inhibiting Sympathetic-Sensory Coupling to Interfere with 5-HT Signaling Pathway

Chinese journal of integrative medicine, 2024-02, Vol.30 (2), p.152-162

2024

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Association of Copy Numbers of Survival Motor Neuron Gene 2 and Neuronal Apoptosis Inhibitory Protein Gene With the Natural History in a Chinese Spinal Muscular Atrophy Cohort

Journal of child neurology, 2015-03, Vol.30 (4), p.429-436

2015

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Compound mutations (R237X and L375P) in the fumarylacetoacetate hydrolase gene causing tyrosinemia type I in a Chinese patient

Chinese medical journal, 2012-06, Vol.125 (12), p.2132-2136

2012

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A novel missense mutation of the ubiquitin protein ligase E3A gene in a patient with Angelman syndrome

Chinese medical journal, 2011-01, Vol.124 (1), p.84-88

2011

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p.Val19Glyfs21 and p.Leu228 variants in the survival of motor neuron 1 trigger nonsense-mediated mRNA decay causing the SMN1 PTC+ transcripts degradation

Mutation research, 2017-12, Vol.806, p.31-38

2017

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Subtle mutation detection of SMN1 gene in Chinese spinal muscular atrophy patients: implication of molecular diagnostic procedure for SMN1 gene mutations

Genetic testing and molecular biomarkers, 2014-08, Vol.18 (8), p.546-551

2014

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A novel large deletion mutation of FERMT1 gene in a Chinese patient with Kindler syndrome

Journal of Zhejiang University. B. Science, 2015-11, Vol.16 (11), p.957-962

2015

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Phenylketonuria mutations in Northern China

Molecular genetics and metabolism, 2005-12, Vol.86, p.107-118

2005

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Two unrelated patients with rare Crigler-Najjar syndrome type I: two novel mutations and a patient with loss of heterozygosity of UGT1A1 gene

Journal of Zhejiang University. B. Science, 2014-05, Vol.15 (5), p.474-481

2014

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Limitation of PCR-RFLP method for the detection of genetic mutations in spinal muscular atrophy

Zhonghua yi xue yi chuan xue za zhi, 2012-02, Vol.29 (1), p.34

2012

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Detection of homozygous deletions in spinal muscular atrophy with genomic DNA sequencing

Zhonghua yi xue yi chuan xue za zhi, 2013-08, Vol.30 (4), p.410

2013

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Study of EV Composite Power Supply for Energy Saving

Advanced materials research, 2012-01, Vol.578, p.3-6

2012

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Kindler综合征患儿一例：FERMT1基因新大片段纯合缺失突变

浙江大学学报：B卷英文版, 2015, Vol.16 (11), p.957-962

Ying GAO Jin-li BAI Xiao-yan LIU Yu-jin QU Yan-yan CAO Jian-cai WANG Yu-wei JIN Hong WANG Fang SONG

2015

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Analysis of survival motor neuron gene conversion in patients with spinal muscular atrophy

Zhonghua yi xue yi chuan xue za zhi, 2011-12, Vol.28 (6), p.606

2011

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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

Journal of molecular neuroscience, 2021, Vol.71 (1), p.112-121

2021

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Electroacupuncture Zusanli (ST36) Relieves Somatic Pain in Colitis Rats by Inhibiting Dorsal Root Ganglion Sympathetic-Sensory Coupling and Neurogenic Inflammation

Diagnosis of Spinal Muscular Atrophy: A Simple Method for Quantifying the Relative Amount of Survival Motor Neuron Gene 1/2 Using Sanger DNA Sequencing

A rare variant (c.863G>T) in exon 7 of SMN1 disrupts mRNA splicing and is responsible for spinal muscular atrophy

Fast clinical molecular diagnosis of hyperphenylalaninemia using next-generation sequencing-based on a custom AmpliSeq™ panel and Ion Torrent PGM sequencing

Association between SMN2 methylation and disease severity in Chinese children with spinal muscular atrophy

Mosaicism of Tetrasomy 18p: Clinical and Cytogenetic Findings in a Female Child

Subtle mutations in the SMN1 gene in Chinese patients with SMA: p.Arg288Met mutation causing SMN1 transcript exclusion of exon7

osaicism of Tetrasomy 18p： Clinical and Cytogenetic Findings in a Female Child

Compound heterozygous mutation in two unrelated cases of Chinese spinal muscular atrophy patients

Mutation Spectrum of the Survival of Motor Neuron 1 and Functional Analysis of Variants in Chinese Spinal Muscular Atrophy

Electroacupuncture at Sensitized Acupoints Relieves Somatic Referred Pain in Colitis Rats by Inhibiting Sympathetic-Sensory Coupling to Interfere with 5-HT Signaling Pathway

Association of Copy Numbers of Survival Motor Neuron Gene 2 and Neuronal Apoptosis Inhibitory Protein Gene With the Natural History in a Chinese Spinal Muscular Atrophy Cohort

Compound mutations (R237X and L375P) in the fumarylacetoacetate hydrolase gene causing tyrosinemia type I in a Chinese patient

A novel missense mutation of the ubiquitin protein ligase E3A gene in a patient with Angelman syndrome

p.Val19Glyfs21 and p.Leu228 variants in the survival of motor neuron 1 trigger nonsense-mediated mRNA decay causing the SMN1 PTC+ transcripts degradation

Subtle mutation detection of SMN1 gene in Chinese spinal muscular atrophy patients: implication of molecular diagnostic procedure for SMN1 gene mutations

A novel large deletion mutation of FERMT1 gene in a Chinese patient with Kindler syndrome

Phenylketonuria mutations in Northern China

Two unrelated patients with rare Crigler-Najjar syndrome type I: two novel mutations and a patient with loss of heterozygosity of UGT1A1 gene

Limitation of PCR-RFLP method for the detection of genetic mutations in spinal muscular atrophy

Detection of homozygous deletions in spinal muscular atrophy with genomic DNA sequencing

Study of EV Composite Power Supply for Energy Saving

Kindler综合征患儿一例：FERMT1基因新大片段纯合缺失突变

Analysis of survival motor neuron gene conversion in patients with spinal muscular atrophy

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

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