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Novel locus for X linked recessive high myopia maps to Xq23–q25 but outside MYP1
TLDR
A Chinese family in which six males presented with high myopia consistent with an X linked recessive trait is reported, finding a new myopia locus outside the linked region of the first high myopic locus (MYP1). Expand
Screening for CRX gene mutations in Chinese patients with Leber congenital amaurosis and mutational phenotype
TLDR
A heterozygous A181?1bp mutation in the CRX gene caused an LCA phenotype in a Chinese patient, but not in his healthy parents. Expand
GPR143 mutations in Chinese patients with ocular albinism type 1
TLDR
The gene mutation spectrum of GPR143 was expanded and the clinical phenotype of patients with OA1 in the Chinese population was investigated and additional evidence for clinical diagnosis was provided along with differential diagnosis and genetic counseling. Expand
A novel mutation of PAX6 in Chinese patients with new clinical features of Peters’ anomaly
TLDR
A novel mutation in the PAX6 (paired box gene 6) gene was identified in a patient with severe ocular clinical features of Peters’ anomaly and this finding expands the mutation spectrum in PAX6 and enriches the knowledge of genotype-phenotype relations due to PAX6 mutations. Expand
Next-generation sequencing of NKX2.1, FOXE1, PAX8, NKX2.5, and TSHR in 100 Chinese patients with congenital hypothyroidism and athyreosis.
  • F. Wang, Chang Liu, +7 authors M. Gu
  • Biology, Medicine
  • Clinica chimica acta; international journal of…
  • 1 July 2017
TLDR
The study indicated that TSHR mutations have phenotypic variability and has further expanded the mutation spectrum of T SHRS, and revealed that the rate of NKX2.1, FOXE1, NKx2.5, and PAX8 mutations were low in patients with CH and athyreosis, in contrast to the higher rate of TSHRs. Expand
Novel mutations of FRMD7 in Chinese patients with congenital motor nystagmus
TLDR
The authors systematically investigated the clinical phenotype of congenital motor nystagmus in a Chinese population and enriched the gene mutation spectrum of FRMD7. Expand
Screening for mt-DNA mutations in optic neuritis of unknown cause.
TLDR
Screening for mt-DNA mutations in ONUC patients is of great significance in diagnosing ONUC etiologically and differentially and should be combined with other routine measures. Expand
Comparison of computer-photoscreening with non-cycloplegic retinoscopy for amblyopiogenic risk factors in children.
TLDR
The computer-photoscreener offers an opportunity to identify problems that limit vision, and could provide a feasible and sufficiently reliable screening technique in infants and preschool children to be screened successfully for amblyopiogenic risk factors. Expand
[Penetrance of Leber hereditary optic neuropathy in Chinese individuals with mitochondrial DNA 11778 mutation].
TLDR
The penetrance of LHON in Chinese individuals with homoplasmic mtDNA11778 mutation is about one third, which is within the range of that in Caucasion. Expand
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