Sökresultat - "chromosomal microarray analysis"

Diagnostic yield of chromosomal microarray to examine the genetic factors associated with fetal aberrant right subclavian artery

Wu, Wenli, Zhang, Fanyong^{Aff1, Aff2}, Li, Yuting, Li, Peng, Liu, Miao, Wang, Fengge^{Aff1, Aff2, IDs00404025079463_cor1}, Man, Dongmei^{Aff1, Aff2, IDs00404025079463_cor2}

Chromosomal Microarray Analysis in Spina Bifida: Genetic Heterogeneity and Its Clinical Implications

Himani Pandey, Jyoti Sharma, Sourabh Kumar, Nakul Mohan, Vishesh Jain, Anjan Kumar Dhua, Devendra Kumar Yadav, Ashish Kumar Dubey, Prativa Choudhury, Prabudh Goel

electronic resource

Visa; Visa; Visa

Effective detection of 148 cases chromosomal mosaicism by karyotyping, chromosomal microarray analysis and QF-PCR in 32,967 prenatal diagnoses

Yi Deng, Lan Zeng, Zhiling Wu, Jin Wang, Mengling Ye, Chun Chen, Ping Wei, Danni Wang, Guangming Deng, Shuyao Zhu

electronic resource

Visa

Prenatal Diagnosis Using Chromosomal SNP Microarrays

Ganapathi, Mythily^Aff3, Nahum, Odelia^Aff3, Levy, Brynn^Aff3

Levy, Brynn^Aff2, Walker, John M.^Aff1

The assessing of clinical relevance of chromosomal microarray analysis in the prenatal diagnosis of fetal growth restriction

Peng Li, Wenli Wu, Xiaoyun Zhang, Yuting Li, Miao Liu, Yanping Wang, Dongmei Man, Fengge Wang

electronic resource

Visa

Exploration of copy number variations and candidate genes in fetal congenital heart disease using chromosomal microarray analysis

Yao, Di^{j_jpm-2024-0599_aff_002}, Xia, Ruyu^{j_jpm-2024-0599_aff_002}, Jiang, Xu^{j_jpm-2024-0599_aff_002}, Guo, Caiqin^{j_jpm-2024-0599_aff_001}, Shi, Nan^{j_jpm-2024-0599_aff_001}, Tao, Hehua^{j_jpm-2024-0599_aff_001}, Yang, Lan^{j_jpm-2024-0599_aff_001}

Exome sequencing and prenatal skeletal abnormalities: comprehensive review and meta-analysis and way forward

Mengting Jiang, Bin Zhang, Jing Wang, Cui Wei, Xiuzhen Mao, Bin Yu

electronic resource

Visa; Visa

Unveiling a rare genetic aberration: A case study of Prader-Willi syndrome (PWS) with atypical 15q11.2-q13.3 deletion

Senthilraja Ramalingam, Srividya Ganapathy, Jayaswathi Kanchepalli, Vani Jayaraj, Mani Mariyappa

electronic resource

Visa; Visa; Visa

Case Report: Optical genome mapping enables identification of complex balanced chromosomal rearrangements

Xiaohang Hu, Jing Guo, Haiyang Sang, Jinyan Yan, Hong Chang, Ting Liu, Haixin Dong, Min Kong, Yanjun Tian, Liqing Jiang

electronic resource

Visa; Visa

Comparative analysis of the application with the combination of CMA and karyotype in routine and late amniocentesis

Zheng, Yanmei, Zhong, Zixing, Zhao, Yiqi, Zhang, Jing, Yang, Liwei, Zhao, Jue^{Aff1, IDs00404024076022_cor6}

Selection of prenatal screening with nuchal translucency > 95th centile and below 99th centile: a 4-year observational study with real-world data

Zhang, Bin, Zhang, Long-Xiu^{Aff2, Aff5}, Yi, Jiao, Wang, Chao-Hong^{Aff4, IDs00404024075007_cor4}, Zhao, Ye^{Aff2, IDs00404024075007_cor5}

Prenatal diagnosis and molecular cytogenetic analysis of pure chromosome 10p15.3 microdeletion using chromosomal microarray analysis

Na Zhang, Nan Huang, Yu’e Chen, Xinying Chen, Jianlong Zhuang

electronic resource

Visa

Chromosomal Abnormalities Detected by Chromosomal Microarray Analysis and Karyotype in Fetuses with Ultrasound Abnormalities

Lan L, Luo D, Lian J, She L, Zhang B, Zhong H, Wang H, Wu H

electronic resource

Visa; Visa

Prenatal diagnosis in fetal right aortic arch using chromosomal microarray analysis and whole exome sequencing: a Chinese single-center retrospective study

Zhang, Lu, Huang, Ruibin, Zhou, Hang, Lin, Xiaomei, Guo, Fei, Jing, Xiangyi, Zhang, Yongling, Li, Fucheng, Li, Fatao, Yu, Qiuxia, Wang, Dan, Chen, Guilan, Fu, Fang, Pan, Min, Han, Jin, Li, Dongzhi, Li, Ru^{Aff1, IDs13039024006913_cor17}

Molecular cytogenetic characterization of isolated recurrent 4q35.2 microduplication in Chinese population: a seven-year single-center retrospective study

Zhuang, Jianlong^{Aff1, IDs1288402406818z_cor1}, Wei, Qiulan, Jiang, Yuying, Zeng, Shuhong, Lou, Haijuan, Zhang, Na^{Aff1, IDs1288402406818z_cor6}, Chen, Chunnuan^{Aff4, IDs1288402406818z_cor7}

Prenatal diagnosis of fetuses with 15q11.2 BP1-BP2 microdeletion in the Chinese population: a seven-year single-center retrospective study

Zhuang, Jianlong^{Aff1, IDs13039024006904_cor1}, Zhang, Na, Fu, Wanyu, Jiang, Yuying, Chen, Yu’e^{Aff2, IDs13039024006904_cor5}, Chen, Chunnuan^{Aff3, IDs13039024006904_cor6}

Perinatal outcomes after a prenatal diagnosis of a fetal copy number variant: a retrospective population-based cohort study

Pynaker, Cecilia, McCoy, Jacqui, Halliday, Jane^{Aff1, Aff2}, Lewis, Sharon^{Aff1, Aff2}, Amor, David J.^{Aff1, Aff2, Aff3}, Walker, Susan P.^{Aff4, Aff5}, Hui, Lisa^{Aff1, Aff4, Aff5, Aff6, IDs12887024050126_cor7}

Prenatal chromosomal microarray analysis in a large Chinese cohort of fetuses with congenital heart defects: a single center study

Lu, Qing^{Aff1, Aff3}, Luo, Laipeng^{Aff1, Aff3}, Zeng, Baitao^{Aff1, Aff3}, Luo, Haiyan^{Aff1, Aff3}, Wang, Xianjin, Qiu, Lijuan, Yang, Yan^{Aff1, Aff3}, Feng, Chuanxin^{Aff1, Aff3}, Zhou, Jihui^{Aff1, Aff3}, Hu, Yanling^{Aff1, Aff3}, Huang, Tingting^{Aff1, Aff3}, Ma, Pengpeng^{Aff1, Aff3}, Huang, Ting^{Aff1, Aff3}, Xie, Kang^{Aff1, Aff3}, Yuan, Huizhen^{Aff1, Aff3}, Huang, Shuhui^{Aff1, Aff3}, Yang, Bicheng^{Aff1, Aff3, IDs13023024033174_cor17}, Zou, Yongyi^{Aff1, Aff3, IDs13023024033174_cor18}, Liu, Yanqiu^{Aff1, Aff3, IDs13023024033174_cor19}

Association of prenatal Cleft Lip and Palate ultrasound abnormalities with copy number variants at a single Chinese tertiary center

Yan, Shujuan, Yu, Qiuxia, Zhou, Hang, Huang, Ruibin, Wang, You, Ma, Chunling, Guo, Fei, Fu, Fang, Li, Ru, Li, Fucheng, Jin, Xiangyi, Zhen, Li, Pan, Min, Li, Dongzhi, Liao, Can^{Aff1, IDs1305202401720y_cor15}

Fetal agenesis of corpus callosum: chromosomal copy number abnormalities and postnatal follow-up

Cai, Meiying^Aff1, Lin, Na^Aff1, Fu, Meimei^Aff1, Que, Yanting, Huang, Hailong^{Aff1, IDs1103302409821x_cor1}, Xu, Liangpu^{Aff1, IDs1103302409821x_cor2}