Analysis of a Series of 26 Cases With Prenatal Skeletal Dysplasia via Multiplatform Genetic Detection by Li‐min Cui, Hua‐ying Hu, Xiao‐mei Zhai, Ming‐fei Qi, Yan‐ming Liu, Cong‐ying Han, Jing Zhang, Ming Shen, Yu‐lan Xiang, Wen‐qi Chen, Kai Yang, Dong‐liang Zhang, Huan‐xia Xing

Subjects: “…chromosome microarray analysis…”
Get full text

Expanding the clinical spectrum of 19p13.3 microduplication syndrome: a case report highlighting nephrotic syndrome and literature review by Wenjie Sun, Hong Yan, Mengxin Sun, Jie Wang, Kunxia Li

Subjects: Get full text

The Genetics of 241 Fetuses With Talipes Equinovarus: A 8‐Year Monocentric Retrospective Study by Pingshan Pan, Dongbing Huang, Jiangxuan Wei, Wei He, Peng Huang, Sheng Yi, Jing Huang, Dahua Meng, Shuyin Tan, Xinyan Li, Hongwei Wei, Linlin Wang

Subjects: “…chromosome microarray analysis…”
Get full text

Autosomal chromosome microdeletions in three adolescent girls with premature ovarian insufficiency: a case report by Ke Yuan, Minfei He, Yanlan Fang, Jianfang Zhu, Li Liang, Chunlin Wang

Subjects: Get full text

Application of chromosome microarray analysis and karyotyping in fetal cardiac abnormalities by Yun Guo, Xiaoqin Xin, Linju Zhou, Jungao Huang

Subjects: “…chromosome microarray analysis…”
Get full text

Genetic Evaluation of Early Pregnancy Loss by Chromosomal Microarray Analysis: A Retrospective Analysis by Hu Ding, Honglei Duan, Xiangyu Zhu, Wei Liu, Leilei Gu, Chunxiang Zhou, Jie Li

Subjects: “…chromosome microarray analysis…”
Get full text

Ultrasound and genetic findings in a case series of fetuses presenting vertebral defects by Wanqin Xie, Lin Zhou, Ai Hu, Jing Chen, Jialun Pang, Hui Xi, Yingchun Luo, Jiancheng Hu, Shuting Yang, Xiaoyang Gao, Hanzhe Kuang, Wanglan Tang, Rui Liu, Silong Wang, Ying Peng

Subjects: Get full text

Identification of a novel microdeletion at 9q21.13 in a family with epilepsy, intellectual disability, and speech disorders and literature review by Liqing Jiang, Liqing Jiang, Liqing Jiang, Jiaqi Li, Aizhong Han, Aizhong Han, Aizhong Han, Fei Hou, Fei Hou, Fei Hou, Xiaotong Wei, Yanjun Tian, Yanjun Tian, Yanjun Tian

Subjects: Get full text

A Clinical and Molecular Description of a Rare Case of Chromosomal Abnormality (Partial Trisomy 14q11.2-q21.1 and Partial Monosomy 21q11.2-q21.3) by Grigory S. Vasilyev, Tatiana I. Meshcheryakova, Elena N. Lukash, Svetlana S. Zhylina, Ilya V. Kanivets, Alexander N. Petrin

Subjects: Get full text

Unveiling a rare genetic aberration: A case study of Prader-Willi syndrome (PWS) with atypical 15q11.2-q13.3 deletion by Senthilraja Ramalingam, Srividya Ganapathy, Jayaswathi Kanchepalli, Vani Jayaraj, Mani Mariyappa

Subjects: Get full text

Current Genetic Testing Tools in Neonatal Medicine by Seema R. Lalani

Subjects: “…chromosomal microarray analysis…”
Get full text

The use of chromosomal microarray analysis for diagnostics of chromosomal pathology in fetal central nervous system malformations by J. K. Kievskaya, I. V. Kanivets, E. V. Kudryavtseva, D. V. Pyankov, S. A. Korostelev

Subjects: “…chromosomal microarray analysis…”
Get full text

Exome sequencing and prenatal skeletal abnormalities: comprehensive review and meta-analysis and way forward by Mengting Jiang, Mengting Jiang, Bin Zhang, Jing Wang, Cui Wei, Xiuzhen Mao, Bin Yu

Subjects: Get full text

Etiological diagnosis of miscarriage by combining use of chromosomal microarray analysis and whole-exome sequencing by Jianlong Zhuang, Wanyu Fu, Ling Gu, Xiaofang Ye, Junyu Wang, Chunnuan Chen

Subjects: “…Chromosomal microarray analysis…”
Get full text

Effective detection of 148 cases chromosomal mosaicism by karyotyping, chromosomal microarray analysis and QF-PCR in 32,967 prenatal diagnoses by Yi Deng, Lan Zeng, Zhiling Wu, Jin Wang, Mengling Ye, Chun Chen, Ping Wei, Danni Wang, Guangming Deng, Shuyao Zhu

Subjects: Get full text

Case Report: Prenatal diagnosis of novel compound heterozygous variants in WDR35 gene causing short-rib thoracic dysplasia 7 with or without polydactyly by Jianlong Zhuang, Junyu Wang, Zhengping Huang, Yu’e Chen, Chunnuan Chen

Subjects: Get full text

The assessing of clinical relevance of chromosomal microarray analysis in the prenatal diagnosis of fetal growth restriction by Peng Li, Wenli Wu, Xiaoyun Zhang, Yuting Li, Miao Liu, Yanping Wang, Dongmei Man, Fengge Wang

Subjects: Get full text

Prenatal diagnosis and genetic assessment of fetuses with single umbilical artery using chromosomal microarray analysis: a seven-year single-center retrospective study by Jianlong Zhuang, Nan Huang, Yu’e Chen, Jialing Wu, Xiaofang Ye, Chunnuan Chen

Subjects: Get full text

A retrospective study for the diagnostic value of chromosomal microarray analysis in fetuses with high-risk prenatal indications by Hui Xiao, Junfang Xiao, Huan Zhang, Shuhui Huang, Qing Lu, Huizhen Yuan, Yongyi Zou, Bicheng Yang, Yanqiu Liu

Subjects: “…chromosomal microarray analysis…”
Get full text

Genetic etiology and pregnancy outcomes of fetal hyperechoic kidneys: a retrospective analysis by Meiying Cai, Na Lin, Ziheng Xiao, Ziheng Xiao, Hailong Huang, Lin Zheng, Liangpu Xu

Subjects: Get full text