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Small heat-shock protein 22 mutated in autosomal dominant Charcot-Marie-Tooth disease type 2L

Human genetics, 2005-02, Vol.116 (3), p.222-224

2005

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Analysis of SCA2 and SCA3/MJD repeats in Parkinson's disease in mainland China: Genetic, clinical, and positron emission tomography findings

Movement disorders, 2009-10, Vol.24 (13), p.2007-2011

2009

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Pallister-Killian syndrome： meiosis Ⅱ non-disjunction may be the first step in the formation of isochromosome 12p

Chinese medical journal, 2010-12, Vol.123 (23), p.3482-3485

2010

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Novel compound heterozygous mutations in the PANK2 gene in a Chinese patient with atypical pantothenate kinase-associated neurodegeneration

Movement disorders, 2005-07, Vol.20 (7), p.819-821

2005

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Embryonic stem cells generated by nuclear transfer of human somatic nuclei into rabbit oocytes

Cell research, 2003-08, Vol.13 (4), p.251-263

2003

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Linkage analysis of susceptibility loci in 2 target chromosomes in pedigrees with paranoid schizophrenia and undifferentiated schizophrenia

Zhonghua yi xue yi chuan xue za zhi, 2011-06, Vol.28 (3), p.256

2011

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Identification of a Locus for Disseminated Superficial Actinic Porokeratosis at Chromosome 12q23.2–24.1

Journal of investigative dermatology, 2000-06, Vol.114 (6), p.1071-1074

2000

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Intracellular Distribution, Assembly and Effect of Disease‐associated Connexin 31 Mutants in HeLa Cells

Acta biochimica et biophysica Sinica, 2005-08, Vol.37 (8), p.547-554

2005

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Biological characteristics and safety evaluation of endothelial progenitor cells from the umbilical cord blood

Zhong nan da xue xue bao. Journal of Central South University. Yi xue ban, 2007-06, Vol.32 (3), p.466

2007

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Identification of the origin of marker chromosome by comparative genomic hybridization

Zhong nan da xue xue bao. Journal of Central South University. Yi xue ban, 2007-04, Vol.32 (2), p.264

2007

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Analysis of PAX6 gene in a Chinese aniridia family

Chinese medical journal, 2006-08, Vol.119 (16), p.1400-1402

2006

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A mutation 1633-26(C-->A) in EXT1 gene causes multiple exostoses

Zhonghua yi xue yi chuan xue za zhi, 2006-04, Vol.23 (2), p.147

2006

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Identification and clone of human Alzheimer's disease related gene nicastrin promoter

Zhong nan da xue xue bao. Journal of Central South University. Yi xue ban, 2006-02, Vol.31 (1), p.9

2006

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Prenatal diagnosis of prelingual deafness by determination of SLC26A4 gene mutation

Chung-hua fu chʿan kʿo tsa chih, 2005-09, Vol.40 (9), p.591-594

2005

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Rapid genetic diagnosis and prenatal diagnosis of spinal muscular atrophy by denaturing high-performance liquid chromatography

Chinese medical journal, 2006-07, Vol.119 (14), p.1222-1225

2006

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FBXO7 gene mutations may be rare in Chinese early-onset Parkinsonism patients

Neuroscience letters, 2010-09, Vol.482 (2), p.86-89

2010

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Preimplantation genetic diagnosis of Duchenne muscular dystrophy by single cell triplex PCR

Zhong nan da xue xue bao. Journal of Central South University. Yi xue ban, 2007-04, Vol.32 (2), p.246

2007

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Azoospermia factor microdeletion on Y chromosome in patients with idiopathic azoospermia or severe oligozoospermia

Zhong nan da xue xue bao. Journal of Central South University. Yi xue ban, 2007-04, Vol.32 (2), p.241

2007

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Mutation analysis of PINK1 gene in Chinese patients with autosomal recessive early-onset parkinsonism type 6

Zhong hua yi xue za zhi, 2005-06, Vol.85 (22), p.1538-1541

2005

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Confirmation of the extra small chromosome in abnormality karyotype by PCR and FISH

Zhong nan da xue xue bao. Journal of Central South University. Yi xue ban, 2005-12, Vol.30 (6), p.657

2005

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Chromosome analysis and phenotype location analysis on a patient with the karyotype of 45, XX, -13/46, XX, r(13)/46, XX, r(13;13)/47, XX, 2r(13)(p13q32.3)

Zhonghua yi xue yi chuan xue za zhi, 2004-08, Vol.21 (4), p.392

2004

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Mutation screening of MLH1 and MSH2 genes in two Chinese families with hereditary nonpolyposis colorectal cancer

Zhonghua yi xue yi chuan xue za zhi, 2008-04, Vol.25 (2), p.221

2008

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Mutation screening of the dystrophin gene in 14 Chinese Duchenne/Becker muscular dystrophy patients without gross deletions

Zhonghua yi xue yi chuan xue za zhi, 2008-12, Vol.25 (6), p.633

2008

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Mutation analysis of ganglioside-induced differentiation associated protein-1 gene in Chinese Charcot-Marie-Tooth disease

Zhonghua yi xue yi chuan xue za zhi, 2004-06, Vol.21 (3), p.207

2004

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Genetic linkage analysis in localizing a gene of autosomal dominant familial dilated cardiomyopathy with conduction defect

Zhong nan da xue xue bao. Journal of Central South University. Yi xue ban, 2005-10, Vol.30 (5), p.510

2005

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Small heat-shock protein 22 mutated in autosomal dominant Charcot-Marie-Tooth disease type 2L

Analysis of SCA2 and SCA3/MJD repeats in Parkinson's disease in mainland China: Genetic, clinical, and positron emission tomography findings

Pallister-Killian syndrome： meiosis Ⅱ non-disjunction may be the first step in the formation of isochromosome 12p

Novel compound heterozygous mutations in the PANK2 gene in a Chinese patient with atypical pantothenate kinase-associated neurodegeneration

Embryonic stem cells generated by nuclear transfer of human somatic nuclei into rabbit oocytes

Linkage analysis of susceptibility loci in 2 target chromosomes in pedigrees with paranoid schizophrenia and undifferentiated schizophrenia

Identification of a Locus for Disseminated Superficial Actinic Porokeratosis at Chromosome 12q23.2–24.1

Intracellular Distribution, Assembly and Effect of Disease‐associated Connexin 31 Mutants in HeLa Cells

Biological characteristics and safety evaluation of endothelial progenitor cells from the umbilical cord blood

Identification of the origin of marker chromosome by comparative genomic hybridization

Analysis of PAX6 gene in a Chinese aniridia family

A mutation 1633-26(C-->A) in EXT1 gene causes multiple exostoses

Identification and clone of human Alzheimer's disease related gene nicastrin promoter

Prenatal diagnosis of prelingual deafness by determination of SLC26A4 gene mutation

Rapid genetic diagnosis and prenatal diagnosis of spinal muscular atrophy by denaturing high-performance liquid chromatography

FBXO7 gene mutations may be rare in Chinese early-onset Parkinsonism patients

Preimplantation genetic diagnosis of Duchenne muscular dystrophy by single cell triplex PCR

Azoospermia factor microdeletion on Y chromosome in patients with idiopathic azoospermia or severe oligozoospermia

Mutation analysis of PINK1 gene in Chinese patients with autosomal recessive early-onset parkinsonism type 6

Confirmation of the extra small chromosome in abnormality karyotype by PCR and FISH

Chromosome analysis and phenotype location analysis on a patient with the karyotype of 45, XX, -13/46, XX, r(13)/46, XX, r(13;13)/47, XX, 2r(13)(p13q32.3)

Mutation screening of MLH1 and MSH2 genes in two Chinese families with hereditary nonpolyposis colorectal cancer

Mutation screening of the dystrophin gene in 14 Chinese Duchenne/Becker muscular dystrophy patients without gross deletions

Mutation analysis of ganglioside-induced differentiation associated protein-1 gene in Chinese Charcot-Marie-Tooth disease

Genetic linkage analysis in localizing a gene of autosomal dominant familial dilated cardiomyopathy with conduction defect

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