Rapid Whole-Genome Sequencing in Critically Ill Infants and Children with Suspected, Undiagnosed Genetic Diseases: Evolution to a First-Tier Clinical Laboratory Test in the Era of... by Rina Kansal

Subjects: 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

First African case report of hypoparathyroidism, deafness and renal dysplasia (HDR) syndrome due to inverted duplication and deletion of chromosome 10p by Tumelo M. Satekge, Glenrose Rikhotso, Bianca Rossouw, Bronwyn Dillon, Fiona Baine-Savanhu

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

Genetic testing for diagnosing neurodevelopmental disorders and epilepsy: a systematic review and meta-analysis by Yu-Ming Chang, Yen-Ta Huang, Pei-Chun Lai

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

Derivative Complex Small Supernumerary Marker Chromosomes (sSMC) Involving Chromosomes 2 and 15—A Novel Report by Yazeed Alayed, Aziza Mushiba, Soha Tashkandi, Yahya Almashham, Khelad Alsaidi, Abdulrazaq Albohigan, Amer Jamhawi, Mohammad Alkheilewi, Maryam Alotaibi

Subjects: “…chromosomal microarray…”
Get full text

Xq12q13.2 duplication detected in a child in selective exome screening by A. A. Dokshukina, Je. Shubina, D. N. Maslennikov, I. O. Sadelov, E. R. Tolmacheva, S. V. Ionushene, T. A. Bairova, L. V. Rychkova, D. Yu. Trofimov, D. N. Degtyarev

Subjects: Get full text

A decade of change – lessons learned from prenatal diagnostics in Central Denmark region in 2008–2018 by Dorte Launholt Lildballe, Naja Becher, Else Marie Vestergaard, Rikke Christensen, Stina Lou, Puk Sandager, Lars Henning Pedersen, Kasper Gadsbøll, Olav Bjørn Petersen, Ida Vogel

Subjects: Get full text

Prenatal diagnosis and molecular cytogenetic analysis of pure chromosome 10p15.3 microdeletion using chromosomal microarray analysis by Na Zhang, Nan Huang, Yu’e Chen, Xinying Chen, Jianlong Zhuang

Subjects: Get full text

Case Report: Optical genome mapping enables identification of complex balanced chromosomal rearrangements by Xiaohang Hu, Jing Guo, Haiyang Sang, Jinyan Yan, Hong Chang, Ting Liu, Haixin Dong, Min Kong, Yanjun Tian, Liqing Jiang

Subjects: Get full text

Prenatal diagnosis and molecular cytogenetic characterization of 12 cases of chromosome 8 inverted duplication deletion syndrome by Xi Yang, Rong Hu, Weiwei Huang, Jian Lu

Subjects: Get full text

Chromosomal Microarray Analysis in Spina Bifida: Genetic Heterogeneity and Its Clinical Implications by Himani Pandey, Jyoti Sharma, Sourabh Kumar, Nakul Mohan, Vishesh Jain, Anjan Kumar Dhua, Devendra Kumar Yadav, Ashish Kumar Dubey, Prativa Choudhury, Prabudh Goel

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

Genetic findings of children with congenital heart diseases using chromosomal microarray and trio-based whole exome sequencing by Rui Guo, Chunhong Duan, Mehdi Zarrei, Miriam S. Reuter, Rui Dong, Guangye Zhang, Xiaomeng Yang, Haiyang Zhang, Ying Wang, Stephen W. Scherer, Yi Liu, Zhongtao Gai

Subjects: Get full text

Comprehensive Prenatal Genetic Analysis: From Non-Invasive Prenatal Testing to Whole-Exome Sequencing in a High-Risk Pregnancy with Gaucher Disease—A Case Report and Literature Rev... by Ileana-Delia Săbău, Laurențiu-Camil Bohîlțea, Mihaela Țurcan, Adelina Silvana Gheorghe, Maria Riza, Mihai Mitroi, Antoanela Curici, Iuliana Ceaușu

Subjects: Get full text

HEREDITARY DISEASES AND SYNDROMES ACCOMPANIED BY FEBRILE CONVULSIONS: CLINICAL AND GENETIC CHARACTERISTICS AND DIAGNOSTIC PROCEDURES by E. L. Dadali, A. A. Sharkov, I. V. Sharkova, I. V. Kanivets, F. A. Konovalov, I. A. Akimova

Subjects: Get full text