Publications by authors named "Yu-jin Qu"

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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.
JinLi Bai, YuJin Qu, Fang Song, YanYan Cao, Miaomiao Cheng

J Mol Neurosci· January 2021

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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.
Yan-Yan Cao, Wen-Hui Zhang, Yu-Jin Qu, Jin-Li Bai, Yu-Wei Jin

Chin Med J (Engl)· December 2018

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The SMN1 common variant c.22 dupA in Chinese patients causes spinal muscular atrophy by nonsense-mediated mRNA decay in humans.
JinLi Bai, YuJin Qu, YanYan Cao, Lan Yang, Lin Ge

Gene· February 2018

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p.Val19Glyfs*21 and p.Leu228* variants in the survival of motor neuron 1 trigger nonsense-mediated mRNA decay causing the SMN1 PTC+ transcripts degradation.
Yu-Jin Qu, Lin Ge, Jin-Li Bai, Yan-Yan Cao, Yu-Wei Jin

Mutat Res· December 2017

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Mosaicism of Tetrasomy 18p: Clinical and Cytogenetic Findings in a Female Child.
Jin-Li Bai, Yu-Wei Jin, Yu-Jin Qu, Hong Wang, Yan-Yan Cao

Chin Med J (Engl)· March 2017

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Mutation Spectrum of the Survival of Motor Neuron 1 and Functional Analysis of Variants in Chinese Spinal Muscular Atrophy.
Yu-Jin Qu, Jin-Li Bai, Yan-Yan Cao, Hong Wang, Yu-Wei Jin

J Mol Diagn· September 2016

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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.
Yu-Jin Qu, Jin-Li Bai, Yan-Yan Cao, Wen-Hui Zhang, Hong Wang

Eur J Hum Genet· June 2016

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Association between SMN2 methylation and disease severity in Chinese children with spinal muscular atrophy.
Yan-yan Cao, Yu-jin Qu, Sheng-xi He, Yan Li, Jin-Ll Bai

J Zhejiang Univ Sci B· January 2016

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A novel large deletion mutation of FERMT1 gene in a Chinese patient with Kindler syndrome.
Ying Gao, Jin-li Bai, Xiao-yan Liu, Yu-jin Qu, Yan-yan Cao

J Zhejiang Univ Sci B· November 2015

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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.
Yu-jin Qu, Xiu-shan Ge, Jin-li Bai, Li-wen Wang, Yan-yan Cao

J Child Neurol· March 2015

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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.
Yan-yan Cao, Yu-jin Qu, Fang Song, Ting Zhang, Jin-li Bai

Mol Genet Metab· December 2014

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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.
Jin-Li Bai, Yu-Jin Qu, Yan-Yan Cao, Ee-Zhen Li, Li-Wen Wang

Genet Test Mol Biomarkers· August 2014

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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.
Yan Li, Yu-jin Qu, Xue-mei Zhong, Yan-yan Cao, Li-min Jin

J Zhejiang Univ Sci B· May 2014

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[Detection of homozygous deletions in spinal muscular atrophy with genomic DNA sequencing].
Yan-yan Cao, Yu-jin Qu, Fang Song, Jin-li Bai, Yu-wei Jin

Zhonghua Yi Xue Yi Chuan Xue Za Zhi· August 2013

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Subtle mutations in the SMN1 gene in Chinese patients with SMA: p.Arg288Met mutation causing SMN1 transcript exclusion of exon7.
Qu Yu-Jin, Du Juan, Li Er-zhen, Bai Jin-li, Jin Yu-wei

BMC Med Genet· September 2012

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Compound mutations (R237X and L375P) in the fumarylacetoacetate hydrolase gene causing tyrosinemia type I in a Chinese patient.
Yan-Yan Cao, Yan-Ling Zhang, Juan DU, Yu-Jin Qu, Xue-Mei Zhong

Chin Med J (Engl)· June 2012

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[Limitation of PCR-RFLP method for the detection of genetic mutations in spinal muscular atrophy].
Yu-wei Jin, Yu-jin Qu, Hong Wang, Jin-li Bai, Fang Song

Zhonghua Yi Xue Yi Chuan Xue Za Zhi· February 2012

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[Analysis of survival motor neuron gene conversion in patients with spinal muscular atrophy].
Sheng-xi He, Xiu-shan Ge, Yu-jin Qu, Yu-wei Jin, Hong Wang

Zhonghua Yi Xue Yi Chuan Xue Za Zhi· December 2011

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[Mutation analysis of SMN1 gene in patients with spinal muscular atrophy].
Juan DU, Yu-jin Qu, Hui Xiong, Er-zhen Li, Yu-wei Jin

Zhonghua Er Ke Za Zhi· June 2011

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[Point mutation analysis of SMN1 gene in patients with spinal muscular atrophy].
Yu-jin QU, Juan DU, Er-zhen LI, Yan-ling YANG, Li-ping ZOU

Zhonghua Yi Xue Yi Chuan Xue Za Zhi· April 2011

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Compound heterozygous mutation in two unrelated cases of Chinese spinal muscular atrophy patients.
Yu-Jin Qu, Fang Song, Yan-Ling Yang, Yu-Wei Jin, Jin-Li Bai

Chin Med J (Engl)· February 2011

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A novel missense mutation of the ubiquitin protein ligase E3A gene in a patient with Angelman syndrome.
Jin-Li Bai, Yu-Jin Qu, Li-Ping Zou, Xin-Ying Yang, Li-Jun Liu

Chin Med J (Engl)· January 2011

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[Genetic and clinical study on 17 cases of Angelman syndrome with deletion of 15q11-13].
Jin-li Bai, Fang Song, Li-ping Zou, Xin-ying Yang, Yu-jin Qu

Zhonghua Er Ke Za Zhi· December 2010

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[A study on genetic diagnosis for Angelman syndrome].
Li-jun Liu, Jin-li Bai, Yu-jin Qu, Yu-wei Jin, Hong Wang

Zhonghua Yi Xue Yi Chuan Xue Za Zhi· October 2009

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[Molecular analysis of survival motor neuron gene in 338 suspicious children patients with spinal muscular atrophy].
Fang Song, Yu-jin Qu, Li-ping Zou, Li-wen Wang, Mei-juan Long

Zhonghua Er Ke Za Zhi· December 2008

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