Zobrazeno 1 - 8
of 8
pro vyhledávání: '"Peixuan Cao"'
Autor:
Mengyao Ni, Xiangyu Zhu, Wei Liu, Leilei Gu, Yujie Zhu, Peixuan Cao, Yan Gu, Yan Xu, Chenyan Dai, Xing Wu, Ying Yang, Chunxiang Zhou, Jie Li
Publikováno v:
BMC Pregnancy and Childbirth, Vol 23, Iss 1, Pp 1-7 (2023)
Abstract Objective The aim of this study was to investigate the incidence of chromosome anomalies in different types of congenital gastrointestinal obstruction and assess pregnancy outcomes of fetuses with congenital gastrointestinal obstruction. Met
Externí odkaz:
https://doaj.org/article/098453c09a474346bca5ab86f9670c79
Publikováno v:
Taiwanese Journal of Obstetrics & Gynecology, Vol 60, Iss 6, Pp 1066-1071 (2021)
Objective To evaluate the detection rate (DR) by prenatal cell-free DNA test for pathogenic copy number variations (CNVs)＞2 Mb among pregnancies with fetal ultrasound abnormalities. Materials and methods This was a retrospective study on 29 pregnan
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3683b7c884ae465e0188363ac39e309c
https://doi.org/10.1016/j.tjog.2021.09.018
https://doi.org/10.1016/j.tjog.2021.09.018
Publikováno v:
Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics. 39(9)
To detect potential variants in eight Chinese pedigrees affected with autosomal dominant polycystic kidney disease (ADPKD) and provide prenatal diagnosis for two of them.Whole exome sequencing and high-throughput sequencing were carried out to detect
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::bfd0e84a2613b63536c0b6dbc9d33980
https://pubmed.ncbi.nlm.nih.gov/36082560
https://pubmed.ncbi.nlm.nih.gov/36082560
Publikováno v:
Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics. 39(6)
To detect pathological variant in a Chinese pedigree affected with oral-facial-digital syndrome type 1 (OFD1).Whole-exome sequencing was used to scan the whole exome of the proband. Potential variant of the OFD1 gene was also detected in all members
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::db51a2c027c5c268b7214d045be1d0ad
https://pubmed.ncbi.nlm.nih.gov/35773765
https://pubmed.ncbi.nlm.nih.gov/35773765
Publikováno v:
Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics. 38(11)
To analyze the prenatal ultrasound phenotypes of copy number variations (CNVs) in different regions of 22q11.2, their parental original, and pregnancy outcome.Prenatal phenotypes of 25 cases with CNVs of the 22q11.2 region detected by chromosomal mic
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::4b245266a2752b777605980a2f8209af
https://pubmed.ncbi.nlm.nih.gov/34729742
https://pubmed.ncbi.nlm.nih.gov/34729742
X-linked hypophosphatemia (XLH) is characterized by low serum phosphate concentration. Both males and females could be affected, and males tend to perform more severely. Identification of a pathological variation in the phosphate-regulating gene with
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::c2008224efc43a738c4e4ba6cd3cfc2a
https://doi.org/10.21203/rs.3.rs-19833/v1
https://doi.org/10.21203/rs.3.rs-19833/v1
Publikováno v:
Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics. 35(3)
To apply high-throughput sequencing for the detection of potential mutation in a methylmalonic academia pedigree for which no proband was available.For a couple who had previously given birth to an affected child, 14 genes were re-sequenced by high-t
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::ad973fd9280cb3cce686e1559945b068
https://pubmed.ncbi.nlm.nih.gov/29896740
https://pubmed.ncbi.nlm.nih.gov/29896740
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