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Mutational analysis of 65 Wilson disease patients in Hong Kong Chinese: Identification of 17 novel mutations and its genetic heterogeneity

Journal of human genetics, 2008-01, Vol.53 (1), p.55-63

2008

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Is the c.3G>C mutation in the succinate dehydrogenase subunit D (SDHD) gene due to a founder effect in Chinese head and neck paraganglioma patients?

The Laryngoscope, 2011-08, Vol.121 (8), p.1760-1764

2011

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A frequent activated smoothened mutation in sporadic basal cell carcinomas

Oncogene, 1999-01, Vol.18 (3), p.833-836

1999

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X-linked glycogen storage disease IXa manifested in a female carrier due to skewed X chromosome inactivation

Clinica chimica acta, 2013-11, Vol.426, p.75-78

2013

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Molecular basis of von Hippel-Lindau syndrome in Chinese patients

Chinese medical journal, 2011-01, Vol.124 (2), p.237-241

2011

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DNA-based diagnosis of malignant osteopetrosis by whole-genome scan using a single-nucleotide polymorphism microarray: standardization of molecular investigations of genetic diseases due to consanguinity

Journal of human genetics, 2007-01, Vol.52 (1), p.98-101

2007

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Galactorrhea—A strong clinical clue towards the diagnosis of neurotransmitter disease

Brain & development (Tokyo. 1979), 2006-07, Vol.28 (6), p.389-391

2006

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DNA-Based Diagnosis of Xeroderma Pigmentosum Group C by Whole-Genome Scan Using Single-Nucleotide Polymorphism Microarray

Journal of investigative dermatology, 2005-01, Vol.124 (1), p.87-91

2005

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A patient with novel ABCB11 gene mutations with phenotypic transition between BRIC2 and PFIC2

Journal of hepatology, 2006-01, Vol.44 (1), p.240-242

2006

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Prenatal diagnosis of glycogen storage disease type 1b using denaturing high performance liquid chromatography

Prenatal diagnosis, 2000-09, Vol.20 (9), p.765-768

2000

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A novel mutation of SLC22A12 gene causing primary renal hypouricemia in a patient with metabolic syndrome

Clinica chimica acta, 2008-12, Vol.398 (1), p.157-158

2008

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DNA-based diagnosis of mucolipidosis type IIIA and mucopolysacchariodisis type VI in a Chinese family: A chance of 1 in 7.6 trillion

Clinica chimica acta, 2007-02, Vol.376 (1-2), p.250-252

2007

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Missense mutation Leu72Pro located on the carboxyl terminal amphipathic helix of apolipoprotein C-II causes familial chylomicronemia syndrome

Clinica chimica acta, 2006-02, Vol.364 (1), p.256-259

2006

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DNA-based diagnosis of methylmalonic aciduria and homocystinuria, cblC type in a Chinese patient presenting with mild developmental delay

Clinica chimica acta, 2007, Vol.375 (1), p.171-172

2007

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Atypical presentation of dopa-responsive dystonia: generalized hypotonia and proximal weakness

Neurology, 2001-09, Vol.57 (6), p.1121-1124

2001

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Genome-wide detection of allelic imbalance in renal cell carcinoma using high-density single-nucleotide polymorphism microarrays

Clinical biochemistry, 2006-03, Vol.39 (3), p.187-190

2006

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Microarrays for Personalized Genomic Medicine

Advances in Clinical Chemistry, 2010, Vol.52, p.1-18

2010

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Novel missense mutation (Y279S) in the GLRA1 gene causing hyperekplexia

Clinica chimica acta, 2006-02, Vol.364 (1), p.361-362

2006

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Mutation of Proline 409 to Arginine in the Meander Region of Cytochrome P450c17 Causes Severe 17α-Hydroxylase Deficiency

Molecular genetics and metabolism, 2001-03, Vol.72 (3), p.254-259

2001

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Novel missense mutation in the CASR gene in a Chinese family with familial hypocalciuric hypercalcemia

Clinica chimica acta, 2005-10, Vol.360 (1), p.167-172

2005

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Resequencing the G6PT1 gene reveals a novel splicing mutation in a patient with glycogen storage disease type 1b

Clinica chimica acta, 2006-12, Vol.374 (1), p.147-148

2006

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DNA-based diagnosis of thyroid hormone resistance syndrome: A novel THRB mutation associated with mild resistance to thyroid hormone

Clinica chimica acta, 2005-08, Vol.358 (1), p.55-59

2005

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Identification of a novel missense mutation (G149E) in the glucose-6-phosphate translocase gene in a Chinese family with glycogen storage disease 1b

Human mutation, 1999, Vol.13 (6), p.507-507

1999

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Novel mutations in the BCHE gene in patients with no butyrylcholinesterase activity

Clinica chimica acta, 2005, Vol.351 (1), p.155-159

2005

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Novel Donor Splice Site Mutation of ABCG5 Gene in Sitosterolemia

Molecular genetics and metabolism, 2002-02, Vol.75 (2), p.178-180

2002

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Mutational analysis of 65 Wilson disease patients in Hong Kong Chinese: Identification of 17 novel mutations and its genetic heterogeneity

Is the c.3G>C mutation in the succinate dehydrogenase subunit D (SDHD) gene due to a founder effect in Chinese head and neck paraganglioma patients?

A frequent activated smoothened mutation in sporadic basal cell carcinomas

X-linked glycogen storage disease IXa manifested in a female carrier due to skewed X chromosome inactivation

Molecular basis of von Hippel-Lindau syndrome in Chinese patients

DNA-based diagnosis of malignant osteopetrosis by whole-genome scan using a single-nucleotide polymorphism microarray: standardization of molecular investigations of genetic diseases due to consanguinity

Galactorrhea—A strong clinical clue towards the diagnosis of neurotransmitter disease

DNA-Based Diagnosis of Xeroderma Pigmentosum Group C by Whole-Genome Scan Using Single-Nucleotide Polymorphism Microarray

A patient with novel ABCB11 gene mutations with phenotypic transition between BRIC2 and PFIC2

Prenatal diagnosis of glycogen storage disease type 1b using denaturing high performance liquid chromatography

A novel mutation of SLC22A12 gene causing primary renal hypouricemia in a patient with metabolic syndrome

DNA-based diagnosis of mucolipidosis type IIIA and mucopolysacchariodisis type VI in a Chinese family: A chance of 1 in 7.6 trillion

Missense mutation Leu72Pro located on the carboxyl terminal amphipathic helix of apolipoprotein C-II causes familial chylomicronemia syndrome

DNA-based diagnosis of methylmalonic aciduria and homocystinuria, cblC type in a Chinese patient presenting with mild developmental delay

Atypical presentation of dopa-responsive dystonia: generalized hypotonia and proximal weakness

Genome-wide detection of allelic imbalance in renal cell carcinoma using high-density single-nucleotide polymorphism microarrays

Microarrays for Personalized Genomic Medicine

Novel missense mutation (Y279S) in the GLRA1 gene causing hyperekplexia

Mutation of Proline 409 to Arginine in the Meander Region of Cytochrome P450c17 Causes Severe 17α-Hydroxylase Deficiency

Novel missense mutation in the CASR gene in a Chinese family with familial hypocalciuric hypercalcemia

Resequencing the G6PT1 gene reveals a novel splicing mutation in a patient with glycogen storage disease type 1b

DNA-based diagnosis of thyroid hormone resistance syndrome: A novel THRB mutation associated with mild resistance to thyroid hormone

Identification of a novel missense mutation (G149E) in the glucose-6-phosphate translocase gene in a Chinese family with glycogen storage disease 1b

Novel mutations in the BCHE gene in patients with no butyrylcholinesterase activity

Novel Donor Splice Site Mutation of ABCG5 Gene in Sitosterolemia

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