Yongjia Yang

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OBJECTIVES The aim of this study is to describe blood lead levels (BLLs) and the prevalence of elevated blood lead levels (EBLLs) in children aged 0-6 years old and to analyze the BLL trend in children from 2009 to 2013 in China. METHODS A total of 124,376 children aged 0-6 years old were recruited for this study from January 1st 2009 to December 31st(More)
Accessory auricular anomaly is a small excrescence of skin that contains elastic cartilage on different regions of the helix and the face. Previous work has shown that the genetic trait of some patients with the isolated symptom of accessory auricular anomaly is autosomal dominant. To map the gene for autosomal dominant accessory auricular anomaly (ADAAA),(More)
BACKGROUND We investigated a large family with Pierre Robin sequence (PRS). AIM OF THE STUDY This study aims to determine the genetic cause of PRS. RESULTS The reciprocal translocation t(4;6)(q22;p21) was identified to be segregated with PRS in a three-generation family. Whole-genome sequencing and Sanger sequencing successfully detected breakpoints in(More)
PURPOSE To map and to identify the causal gene for autosomal dominant congenital cataract (ADCC) in a Chinese family. METHODS A four-generation family with a history of progressive congenital cataracts was investigated. Twenty-three members of the family were examined ophthalmologically. Blood samples were collected from twenty-nine family members for(More)
BACKGROUND Metaphyseal Chondrodysplasia type Schmid (MCDS) is an autosomal dominant skeletal dysplasia, characterized by coxa vara, bowlegs, short limbs and an expanded growth plate hypertrophic zone of the long bone. Previous studies have shown gene mutation of COL10A1 (collagen X, consisting three a1(X) chain) causing human MCDS. To our knowledge, there(More)
Blepharophimosis-ptosis-epicanthus inversus syndrome (BPES) is a rare autosomal dominant disorder that affects craniofacial development and ovarian function. FOXL2 is the only gene known to be responsible for BPES. The majority of BPES patients show intragenic mutations of FOXL2. Recently, a 7.4 kb sequence disruption, which was 283 kb upstream of FOXL2,(More)
We report on a three-generation Chinese family presenting with a recognizable condition consisting of radio-ulnar synostosis, short stature, scoliosis, distinctive craniofacial features (thick vermilion to the lips, prominent eyes, and flat malar region), and a shortened and thickened femur neck. The inheritance of the trait was presumably autosomal(More)
Hereditary non-polyposis colorectal cancer (HNPCC) is one of the most common hereditary colon cancer syndrome accounting for 1–5% of all colorectal cancer cases. Germline mutations in DNA mismatch repair (MMR) genes are associated with the clinical phenotype of HNPCC. Defects in the MSH2 gene may account for about 40% of HNPCC cases including nucleotide(More)