Zobrazeno 1 - 10
of 49
pro vyhledávání: '"Jianzhu Wu"'
Autor:
Shaobin Lin, Zhiming He, Linhuan Huang, Jialiu Liu, Ting Lei, Jianzhu Wu, Peizhi Huang, Yi Zhou, Yanmin Luo
Publikováno v:
Frontiers in Genetics, Vol 12 (2021)
Familial Rubinstein-Taybi syndrome (RSTS) with recurrent RSTS siblings and apparently unaffected parents is rare; such cases might result from parental somatic and/or germline mosaicism. Parental low-level (T (p.Gln1079*) in CREBBP in the siblings vi
Externí odkaz:
https://doaj.org/article/92fc3c41f9bc49f4b3244c61bbe109e3
Autor:
Xiulan Hao, Jianzhu Wu, Wenting Fu, Rui Zhang, Shilin Zhong, Yuqing Deng, Yunxiao Zhu, Yanchou Ye, Qun Fang
Publikováno v:
Prenatal diagnosisREFERENCES. 42(4)
To investigate prenatal manifestations of Emanuel syndrome (ES) by retrospectively analyzing the results of prenatal diagnosis.Thirteen fetuses were collected from five hospitals, of which six were confirmed with 47,der(22)t(11;22; ES) by karyotype a
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f61a5e70b32b6c07f3b3a9e82c5a225d
https://pubmed.ncbi.nlm.nih.gov/35043432
https://pubmed.ncbi.nlm.nih.gov/35043432
Publikováno v:
Obstetrical & Gynecological Survey. 75:535-537
Objectives To evaluate the incidence and types of chromosomal abnormalities detected in twins with structural anomalies and compare their distribution according to chorionicity and amnionicity and by structural-anomaly type. The added value of chromo
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6449ca1314ecbf8242b3cbb3d15afa77
https://doi.org/10.1097/01.ogx.0000718756.33100.bb
https://doi.org/10.1097/01.ogx.0000718756.33100.bb
Autor:
Huijuan Shi, Yingjun Xie, Xiaojuan Pei, Xiaofang Sun, Xuying Zhuang, Jialing He, Jianzhu Wu, Yu Dong, Huiqun Wu
Publikováno v:
Molecular Medicine Reports
In clinical diagnostics, single nucleotide polymorphism (SNP)-based microarray analysis enables the detection of copy number variations (CNVs), as well as copy number neutral regions, that are absent of heterozygosity throughout the genome. The aim o
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::56cbdc2941f8f562a55af067d08b8a7c
https://doi.org/10.3892/mmr.2016.5211
https://doi.org/10.3892/mmr.2016.5211
Autor:
Yanmin Luo, Yi Zhou, Baojiang Chen, Shaobin Lin, Peizhi Huang, Yuanjun Ji, Jianzhu Wu, Shanshan Shi
Publikováno v:
Prenatal diagnosis. 38(6)
OBJECTIVE To investigate the detection rate of 16p11.2 recurrent microdeletions in fetuses with abnormal ultrasound findings and determine the common abnormal ultrasound findings in fetuses carrying the deletion. METHODS This study reviewed 2262 cons
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c257d4c66f525db97dce8e66d9639b3a
https://pubmed.ncbi.nlm.nih.gov/29514395
https://pubmed.ncbi.nlm.nih.gov/29514395
Autor:
Jianzhu Wu, Baojiang Chen, Shao-bin Lin, Yingjun Xie, Qun Fang, Zheng Chen, Shanshan Shi, Yi Zhou, Zhiqiang Zhang
Publikováno v:
Journal of the Chinese Medical Association, Vol 78, Iss 7, Pp 408-413 (2015)
Background Conventional karyotyping has been a routine method to identify chromosome abnormalities in products of conception. However, this process is being transformed by single nucleotide polymorphism (SNP) array, which has advantages over karyotyp
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1a487d6802c5b5884fb81f7d87aec6a2
Publikováno v:
Genetics and Molecular Research. 14:7833-7840
The alternative forms of the alleles in biallelic genes display a synchronous pattern of replication that is different from genes subjected to monoallelic expression, which exhibit an asynchronous mode of replication. The present study sought to gain
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::23433157e06142b6f49cf0298556583d
https://doi.org/10.4238/2015.july.14.9
https://doi.org/10.4238/2015.july.14.9
Publikováno v:
Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics. 33(5)
To analyze a fetus with increased nuchal translucency and nuchal fold, and to assess the recurrence risk for her family and provide a basis for prenatal diagnosis.G-banded karyotyping and single nucleotide polymorphism-based array (SNP-Array) analysi
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::f6e26681c4ce922953dec43ec4e0feb4
https://pubmed.ncbi.nlm.nih.gov/27577222
https://pubmed.ncbi.nlm.nih.gov/27577222
Publikováno v:
Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics. 33(3)
To analyze a fetus presenting with complex heart defect and assess the recurrence risk.Conventional karyotyping, fluorescence in situ hybridization (FISH) and single nucleotide polymorphism-based array (SNP-array) were used to analyze the fetus and h
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::563648dcf38b38c974dc48c448af7319
https://pubmed.ncbi.nlm.nih.gov/27264820
https://pubmed.ncbi.nlm.nih.gov/27264820
Publikováno v:
Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics. 33(3)
To analyze a fetus with abnormal sonographic features and correlated its genotype with phenotype.G-banding analysis, single nucleotide polymorphism array (SNP array) and fluorescence in situ hybridization (FISH) were performed for the fetus. Karyotyp
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::6ca29175709627f503dc2555268541b2
https://pubmed.ncbi.nlm.nih.gov/27264817
https://pubmed.ncbi.nlm.nih.gov/27264817