Zobrazeno 1 - 10
of 16
pro vyhledávání: '"Xi-Yu He"'
Autor:
Yan Wang, Xiao Yang, Yong Zheng, Zhi-Hao Wu, Xiao-Ai Zhang, Qiu-Ping Li, Xi-Yu He, Chun-Zhi Wang, Zhi-Chun Feng
Publikováno v:
PLoS ONE, Vol 8, Iss 6, p e65657 (2013)
Inflammation plays an important role in the etiology and pathophysiology of spontaneous preterm birth (SPTB), and selenoprotein S (SEPS1) is involved in regulating the inflammatory response. Recently the G-105A promoter polymorphism in SEPS1 was show
Externí odkaz:
https://doaj.org/article/3a1b403b812e4bfda3f0cfcea347e82c
Akademický článek
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Publikováno v:
Applied Geophysics: Bulletin of Chinese Geophysical Society; Dec2022, Vol. 19 Issue 4, p563-571, 9p
Publikováno v:
Zhongguo dang dai er ke za zhi = Chinese journal of contemporary pediatrics. 17(5)
To analyze the potential pathogenic genomic imbalance in children with unexplained intellectual disability (ID) and/or developmental delay (DD) and its association with phenotypes, and to investigate the value of array-based comparative genomic hybri
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::b9bd17f85b449a59644d53ee08261de5
https://pubmed.ncbi.nlm.nih.gov/26014695
https://pubmed.ncbi.nlm.nih.gov/26014695
Autor:
Jose E. Martinez, Tian-Jian Chen, Paul Maertens, Wladimir Wertelecki, Yueying Wang, Glen L. Wilson, Xi-Yu He, Cathy M. Tuck-Muller
Publikováno v:
American Journal of Medical Genetics Part A. :1274-1279
Coffin–Lowry syndrome (CLS) is an X-linked mental retardation syndrome caused by defects in the RSK2 gene. We have identified a CLS family with four patients in two generations. The patients in this family, a mother and her three children (a male a
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::af4d7334703ceaff99a338118bb50051
https://doi.org/10.1002/ajmg.a.31266
https://doi.org/10.1002/ajmg.a.31266
Publikováno v:
Zhonghua er ke za zhi = Chinese journal of pediatrics. 51(11)
To evaluate clinical characteristics and PHOX2B gene mutations in congenital central hypoventilation syndrome (CCHS) and to facilitate the early diagnosis and management of CCHS and reduce the misdiagnosis.Clinical data of 3 infants with CCHS who had
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::20b6565f4d3a958b9a7dfa54383dbe8e
https://pubmed.ncbi.nlm.nih.gov/24484562
https://pubmed.ncbi.nlm.nih.gov/24484562
Publikováno v:
Zhongguo dang dai er ke za zhi = Chinese journal of contemporary pediatrics. 14(11)
To investigate the mutation of glucose-6-phosphatase gene (G6PC gene) in a patient with glycogen storage disease Ⅰa.PCR was used to amplify all five exons of G6PC gene. The PCR products were directly sequenced to detect the mutations.A heterozygous
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::60f4843eb57861e52d5e8a23c2fb4ee2
https://pubmed.ncbi.nlm.nih.gov/23146735
https://pubmed.ncbi.nlm.nih.gov/23146735
Publikováno v:
Zhongguo dang dai er ke za zhi = Chinese journal of contemporary pediatrics. 14(6)
Prader-Willi syndrome (PWS) with different pathogenesis has different clinical manifestations, prognosis and genetic risks. Pathogenesis of the disease cannot be explained by conventional diagnostic method MS-PCR. This study employed methylation-spec
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::9e1dd888526fb47a6327b679fa69fe88
https://pubmed.ncbi.nlm.nih.gov/22738453
https://pubmed.ncbi.nlm.nih.gov/22738453
Publikováno v:
Zhongguo dang dai er ke za zhi = Chinese journal of contemporary pediatrics. 14(6)
To study the effect of proportional assist ventilation (PAV) on physiology and respiratory mechanics in very low birth weight (VLBW) infants with ventilator dependence by comparison with conventional assist/control (A/C) ventilation.Forty-six infants
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::a3b5e964688cce9fe8a03aacaa3abd94
https://pubmed.ncbi.nlm.nih.gov/22738442
https://pubmed.ncbi.nlm.nih.gov/22738442
Publikováno v:
Zhongguo dang dai er ke za zhi = Chinese journal of contemporary pediatrics. 13(8)
To explore the chromosome karyotypes in children with mental retardation.The peripheral blood lymphocytes from 92 children with congenital mental retardation were cultured and analysed by the G-band technique.Of the 92 cases, 43 cases (47%) showed ch
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::93baab5edae4256b718e469679bf3b5f
https://pubmed.ncbi.nlm.nih.gov/21849116
https://pubmed.ncbi.nlm.nih.gov/21849116