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Novel SIL1 nonstop mutation in a Chinese consanguineous family with Marinesco-Sjögren syndrome and Dandy-Walker syndrome

Clinica chimica acta, 2016-07, Vol.458, p.1-4

2016

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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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First report of HGD mutations in a Chinese with alkaptonuria

Gene, 2013-04, Vol.518 (2), p.467-469

2013

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Confirmation and refinement of a genetic locus of congenital motor nystagmus in xq26.3-q27.1 in a Chinese family

Human genetics, 2005, Vol.116 (1-2), p.128-131

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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A case of malonyl-CoA decarboxylase deficiency: clinical and genetic study

Zhongguo dang dai er ke za zhi, 2012-11, Vol.14 (11), p.879

2012

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Mutation analysis of EXT genes in two pedigrees with hereditary multiple exostoses

Zhonghua yi xue yi chuan xue za zhi, 2013-12, Vol.30 (6), p.641

2013

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Cornelia de Lange syndrome: report of a case and the review of literature on 17 cases

Zhonghua er ke za zhi, 2012-08, Vol.50 (8), p.606

2012

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Analysis of four fetuses with de novo chromosomal rearrangments using single nucleotide polymorphism microarray chips

Zhonghua yi xue yi chuan xue za zhi, 2012-12, Vol.29 (6), p.658

2012

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Rapid detection of the hot spot gene mutations in Chinese patients with nonsyndromic hearing loss by polymerase chain reaction-restrictive fragment length polymorphism

Zhonghua yi xue yi chuan xue za zhi, 2009-10, Vol.26 (5), p.518

2009

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Molecular analysis of IDS gene and prenatal diagnosis in a Chinese family with mucopolysaccharidosis type II

Zhonghua er ke za zhi, 2009-02, Vol.47 (2), p.109

2009

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Genetic diagnosis and prenatal diagnosis of Angelman syndrome

Zhonghua yi xue yi chuan xue za zhi, 2009-10, Vol.26 (5), p.511

2009

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Deletion and mutation analysis to FOXL2 in blepharophimosis-ptosis-epicanthus inversus syndrome

Chung-hua yen k'o tsa chih, 2010-06, Vol.46 (6), p.532

2010

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Multiplex quantitative PCR detection for female carrier in an X-linked ichthyosis family

Zhong hua yi xue za zhi, 2008-12, Vol.88 (46), p.3246-3249

2008

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Mutation screening of 20 candidate genes located in chromo-some 5q31-5q32 for DFNA52 locus

Yíchuán, 2009-01, Vol.31 (1), p.43

2009

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Mapping of pathogenic genes in two families with autosomal dominant ichthyosis vulgaris

Yíchuán, 2008-07, Vol.30 (7), p.843

2008

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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.246-251

2007

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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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Molecular analysis of SLC26A4 gene in a Chinese deafness family

Zhonghua yi xue yi chuan xue za zhi, 2005-08, Vol.22 (4), p.376

2005

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Mapping of pathogenic genes in a pedigree with autosomal dominant ichthyosis vulgaris

Zhōngguó yīxué kēxuéyuàn xuébào, 2007-06, Vol.29 (3), p.302

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.241-245

2007

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Hotspot of the mutations of keratin 9 gene in a diffuse palmoplantar keratoderma family

Zhong nan da xue xue bao. Journal of Central South University. Yi xue ban, 2005-10, Vol.30 (5), p.521-524

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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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.510-514

2005

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A mutation IVS2+1G>A in EXT2 gene causes hereditary multiple exostoses

Zhonghua yi xue yi chuan xue za zhi, 2004-04, Vol.21 (2), p.97

2004

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Novel SIL1 nonstop mutation in a Chinese consanguineous family with Marinesco-Sjögren syndrome and Dandy-Walker syndrome

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

First report of HGD mutations in a Chinese with alkaptonuria

Confirmation and refinement of a genetic locus of congenital motor nystagmus in xq26.3-q27.1 in a Chinese family

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

A case of malonyl-CoA decarboxylase deficiency: clinical and genetic study

Mutation analysis of EXT genes in two pedigrees with hereditary multiple exostoses

Cornelia de Lange syndrome: report of a case and the review of literature on 17 cases

Analysis of four fetuses with de novo chromosomal rearrangments using single nucleotide polymorphism microarray chips

Rapid detection of the hot spot gene mutations in Chinese patients with nonsyndromic hearing loss by polymerase chain reaction-restrictive fragment length polymorphism

Molecular analysis of IDS gene and prenatal diagnosis in a Chinese family with mucopolysaccharidosis type II

Genetic diagnosis and prenatal diagnosis of Angelman syndrome

Deletion and mutation analysis to FOXL2 in blepharophimosis-ptosis-epicanthus inversus syndrome

Multiplex quantitative PCR detection for female carrier in an X-linked ichthyosis family

Mutation screening of 20 candidate genes located in chromo-some 5q31-5q32 for DFNA52 locus

Mapping of pathogenic genes in two families with autosomal dominant ichthyosis vulgaris

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

Prenatal diagnosis of prelingual deafness by determination of SLC26A4 gene mutation

Molecular analysis of SLC26A4 gene in a Chinese deafness family

Mapping of pathogenic genes in a pedigree with autosomal dominant ichthyosis vulgaris

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

Hotspot of the mutations of keratin 9 gene in a diffuse palmoplantar keratoderma family

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)

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

A mutation IVS2+1G>A in EXT2 gene causes hereditary multiple exostoses

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