Research Topics

Species

Liao Shixiu

Summary

Country: China

Publications

  1. Wang L, Lou G, Bian S, Qin L, Yang K, Zhang B, et al. [Identification of two novel Parkin gene mutations in a patient affected with Juvenile Parkinson's syndrome]. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2019;36:344-347 pubmed publisher
    ..Bioinformatic analysis predicted that both mutations are pathogenic. The patient has JP caused by mutations of the Parkin gene. Exome capture sequencing is an accurate and efficient method for genetic diagnosis of such disease. ..
  2. Wu D, Hou Q, Wang H, Li T, Wang X, Kang B, et al. [Prenatal diagnosis and genetic analysis of a fetus with 2p13.3-p12 microdeletion]. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2018;35:711-714 pubmed publisher
    ..aCGH has identified a de novo 5.09 Mb deletion at 2p13.3-p12 in the fetus. The 2p13.3-p12 microdeletion carried by the fetus was de novo. As it has involved dosage-sensitive genes SPR and DCTN1, the deletion is probably pathogenic. ..
  3. Wu D, Hou Q, Li T, Wang X, Huo X, Gao Y, et al. [Genetic diagnosis of a child with aortic stenosis and thumb aplasia]. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2018;35:531-534 pubmed publisher
    ..aCGH identified a de novo 5.86 Mb deletion at 2q22.3-q23.3 in the child. The child was diagnosed with 2q23.1 microdeletion syndrome. MBD5 may be the key gene for the 2q23.1 microdeletion syndrome. ..
  4. Zhang H, Wu D, Hou Q, Liu Z, Qin L, Liao S. [Mutation analysis and prenatal diagnosis of COL1A1 gene in a Chinese family with type I osteogenesis imperfecta]. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2014;31:730-2 pubmed publisher
    ..The c.104-1G>C mutation of the COL1A1 gene probably underlies the type I osteogenesis imperfecta in this family. Under the premise of a clear genetic diagnosis, prenatal diagnosis may be provided to reduce the risk for the disease. ..
  5. Wu D, Wang T, Hou Q, Li T, Wang X, Zhang C, et al. [Prenatal diagnosis and genetic analysis of a fetus with endocardial cushion defects]. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2018;35:418-421 pubmed publisher
    ..23-q24.3 in the fetus. The fetus was diagnosed with Rec8 syndrome. Its abnormal chromosomes have derived from the inv(8) carried by its mother. GATA4 and SOX7 may be the key genes for the endocardial cushion defect found in the fetus. ..
  6. Lou G, Yang K, Qin L, Zhang Y, Wang H, Hou Q, et al. [Identification of a novel EXT1 mutation in a pedigree affected with hereditary multiple exostosis]. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2018;35:91-95 pubmed publisher
  7. Su N, Qin L, Wang H, Xiao H, Guo Q, Li T, et al. [Analysis of pathological mutation in a Chinese pedigree affected with familial exudative vitreoretinopathy]. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2018;35:193-196 pubmed publisher
    ..Upon prenatal diagnosis, the fetus was found to carry the same mutations. Combined NGS and Sanger sequencing not only can reduce the time required for diagnosis but also enable accurate prenatal diagnosis for FEVR. ..
  8. Wu D, Li T, Hou Q, Huo X, Wang X, Wang T, et al. [Genetic analysis of a child with cleidocranial dysplasia and 6q21-q22.31 microdeletion]. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2018;35:253-256 pubmed publisher
    ..31. Both of the de novo deletions are pathogenic. Deletion of the RUNX2 gene probably underlies the cleidocranial dysplasia in the patient, while the 6q21-q22.31 deletion may result in malformation of the brain. ..
  9. Hongdan W, Bing K, Ning S, Miao H, Bo Z, Yuxin G, et al. Evaluation of the genetic parameters and mutation analysis of 22 STR loci in the central Chinese Han population. Int J Legal Med. 2017;131:103-105 pubmed publisher
    ..STR mutation is commonly existed in paternity testing, while there are no STR mutation studies of the 22 STR loci in the Henan Han population. It is of great importance in forensic individual discrimination and paternal testing. ..

More Information

Publications14

  1. Wu D, Wang H, Zhang H, Hou Q, Qin L, Wang T, et al. [Phenotypic and genetic analysis of a girl with multiple congenital deformities due to 2p15-p16.1 microdeletion syndrome]. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2015;32:823-6 pubmed publisher
    ..The de novo interstitial 2p15-p16.1 deletion may cause the mental retardation and multiple congenital deformities. chr2:60.5-61.5 Mb may be the minimal common region of 2p15-p16.1 microdeletion syndrome. ..
  2. Zhang H, Shi W, Xiao H, Wu D, Qin L, Liao S. [Analysis of PRRT2 gene mutations in a Chinese family affected with paroxysmal kinesigenic dyskinesia]. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2016;33:61-3 pubmed publisher
    ..The c.649dupC mutation of the PRRT2 gene probably underlies the PKD in this family. Prenatal diagnosis can reduce the risk for further birth of affected children for this family. ..
  3. Wu D, Zhang H, Wang H, Hou Q, Wang T, Li T, et al. [Phenotypic and genetic analysis of a boy with partial trisomy of 1q]. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2017;34:398-401 pubmed publisher
    ..1 Mb duplication at 1q42q44 in the proband. The de novo 1q42q44 duplication, which may be due to non-allelic homologous recombination mediated by low copy repeats, probably underlies the abnormalities in the proband. ..
  4. Wu D, Shi W, Wang H, Hou Q, Zhang H, Li T, et al. [Prenatal diagnosis and genetic analysis of a fetus with 6q27 microdeletion]. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2017;34:718-721 pubmed publisher
    ..The 6q27 deletion may be responsible for the structural brain abnormalities in the fetus. The palindrome sequence flanking the chromosomal breakpoint may be involved the formation of the 6q27 deletion. ..
  5. Wu D, Li T, Wang H, Shi W, Hou Q, Zhang H, et al. [Clinical and genetic analysis of a boy with 9q34.3 microdeletion syndrome]. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2017;34:849-852 pubmed publisher
    ..The de novo 9q34.3 deletion probably underlies the mental retardation and development delay in the boy. EHMT1 may be one of the key genes responsible for 9q34.3 microdeletion syndrome. ..