- Five novel mutations of the FRMD7 gene in Chinese families with X-linked infantile nystagmusNingdong Li
Tianjin Eye Hospital, Tianjin Eye Institute, Tianjin, People s Republic of China
Mol Vis 14:733-8. 2008..Recently, mutations in FRMD7 were found to be responsible for X-linked idiopathic infantile nystagmus . We investigated the role of the FRMD7 gene mutations in seven Chinese families with infantile nystagmus...
- Plasminogen activator inhibitor-1 4G/5G polymorphism and retinopathy risk in type 2 diabetes: a meta-analysisTengyue Zhang
Tianjin Medical University, 22 Qixiangtai Road, Tianjin, 300020, PR China
BMC Med 11:1. 2013..To comprehensively address this issue, we performed a meta-analysis to evaluate the association of PAI-1 4G/5G polymorphism with diabetic retinopathy in type 2 diabetes...
- An autosomal dominant progressive congenital zonular nuclear cataract linked to chromosome 20p12.2-p11.23Ningdong Li
Tianjin Eye Hospital, Tianjin Medical University, Tianjin, People s Republic of China
Mol Vis 12:1506-10. 2006..To map and to identify the causal gene for autosomal dominant congenital cataract (ADCC) in a Chinese family...
- Identification of the forkhead transcriptional factor 2 (FOXL2) gene mutations in four Chinese families with blepharophimosis syndromeLi Zhang
Henan Eye Institute, Henan Eye Hospital, Henan, People s Republic of China Tianjin Key Lab of Ophthalmology and Visual Science, Tianjin Eye Institute, Tianjin, People s Republic of China
Mol Vis 19:2298-305. 2013..To determine the genetic origin of disease in four Chinese families with blepharophimosis syndrome...
- Mutations in ASCC3L1 on 2q11.2 are associated with autosomal dominant retinitis pigmentosa in a Chinese familyNingdong Li
Tianjin Eye Hospital, Tianjin, China
Invest Ophthalmol Vis Sci 51:1036-43. 2010..To localize and identify the gene and mutations causing autosomal dominant retinitis pigmentosa in a Chinese Family...
- A novel mutation of RPGR gene in an X-linked Chinese family with retinitis pigmentosaNingdong Li
Tianjin Eye Institute, Tianjin Eye Hospital, Tianjin, People s Republic of China
Mol Genet Metab 102:488-93. 2011..To localize and identify the gene and mutations causing an X-linked Chinese family with retinitis pigmentosa...
- Inherited KIF21A and PAX6 gene mutations in a boy with congenital fibrosis of extraocular muscles and aniridiaMing Ying
Tianjin Eye Hospital, Tianjin, 300022, PR China
BMC Med Genet 14:63. 2013..Mutations in the KIF21A gene are detected in the patients with congenital fibrosis of the extraocular muscles. Mutations in the PAX6 gene are detected in the patients with congenital aniridia...
- A locus for autosomal dominant accessory auricular anomaly maps to 14q11.2-q12Yongjia Yang
Tianjin Eye Institute, Tianjin Eye Hospital, Tianjin Medical University, 300020 Tianjin, China
Hum Genet 120:144-7. 2006..84 cM interval between the markers D14S283 and D14S297. Our study assigned an isolated ADAAA locus to 14q11.2-q12. This is the first ADAAA locus reported to date...