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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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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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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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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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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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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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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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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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Mutation analysis of SMN1 gene in patients with spinal muscular atrophy

Zhonghua er ke za zhi, 2011-06, Vol.49 (6), p.411

2011

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A study on genetic diagnosis for Angelman syndrome

Zhonghua yi xue yi chuan xue za zhi, 2009-10, Vol.26 (5), p.495

2009

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Point mutation analysis of SMN1 gene in patients with spinal muscular atrophy

Zhonghua yi xue yi chuan xue za zhi, 2011-04, Vol.28 (2), p.121

2011

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Genetic and clinical study on 17 cases of Angelman syndrome with deletion of 15q11-13

Zhonghua er ke za zhi, 2010-12, Vol.48 (12), p.939

2010

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Detection of the prevalent mutations of 6-pyruvoyl-tetrahydropterin synthase gene by PCR-RFLP analysis in Chinese patients

Zhonghua yi xue yi chuan xue za zhi, 2006-12, Vol.23 (6), p.680

2006

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Quantitative analysis of SMN1 and SMN2 genes based on DHPLC: a reliable method for detection of non-homozygous patients with spinal muscular atrophy

Zhong hua yi xue za zhi, 2008-05, Vol.88 (18), p.1259-1263

2008

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Mutation characteristics of the PAH gene in four nationality groups in Xinjiang of China

Journal of genetics, 2008-12, Vol.87 (3), p.293-297

2008

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Molecular analysis of survival motor neuron gene in 338 suspicious children patients with spinal muscular atrophy

Zhonghua er ke za zhi, 2008-12, Vol.46 (12), p.919

2008

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Characteristics of the PAH gene mutation in Chinese patients with phenylketonuria in Xinjiang

Zhonghua yi xue yi chuan xue za zhi, 2009-02, Vol.26 (1), p.26

2009

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Association of ALOX15 gene polymorphisms with obesity-related phenotypes in Chinese nuclear families with male offspring

Acta pharmacologica Sinica, 2012-02, Vol.33 (2), p.201-207

2012

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Clinical diagnosis and therapy analysis of cervical lymphadenitis in cat-scratch disease

Zhonghua er bi yan hou tou jing wai ke za zhi = Chinese journal of otorhinolaryngology head and neck surgery, 2006-08, Vol.41 (8), p.626

2006

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Mutation of growth hormone receptor gene in patients with short stature

Zhonghua er ke za zhi, 2006-11, Vol.44 (11), p.859

2006

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Polymorphisms in the HOXD4 gene are not associated with peak bone mineral density in Chinese nuclear families

Acta pharmacologica Sinica, 2010-08, Vol.31 (8), p.977-983

2010

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Mutations in exon 7 of the phenylalanine hydroxylase (PAH) gene in chinese patients with phenylketonuria

Yíchuán, 2005-01, Vol.27 (1), p.53

2005

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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

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

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

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

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

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

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

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

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

Mutation analysis of SMN1 gene in patients with spinal muscular atrophy

A study on genetic diagnosis for Angelman syndrome

Point mutation analysis of SMN1 gene in patients with spinal muscular atrophy

Genetic and clinical study on 17 cases of Angelman syndrome with deletion of 15q11-13

Detection of the prevalent mutations of 6-pyruvoyl-tetrahydropterin synthase gene by PCR-RFLP analysis in Chinese patients

Quantitative analysis of SMN1 and SMN2 genes based on DHPLC: a reliable method for detection of non-homozygous patients with spinal muscular atrophy

Mutation characteristics of the PAH gene in four nationality groups in Xinjiang of China

Molecular analysis of survival motor neuron gene in 338 suspicious children patients with spinal muscular atrophy

Characteristics of the PAH gene mutation in Chinese patients with phenylketonuria in Xinjiang

Association of ALOX15 gene polymorphisms with obesity-related phenotypes in Chinese nuclear families with male offspring

Clinical diagnosis and therapy analysis of cervical lymphadenitis in cat-scratch disease

Mutation of growth hormone receptor gene in patients with short stature

Polymorphisms in the HOXD4 gene are not associated with peak bone mineral density in Chinese nuclear families

Mutations in exon 7 of the phenylalanine hydroxylase (PAH) gene in chinese patients with phenylketonuria

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