Results 141 to 150 of about 54,834 (268)

Reproductive outcomes in couples with sporadic miscarriage after embryonic chromosomal microarray analysis. [PDF]

Ann Med, 2023
Xia Z, Zhou R, Li Y, Meng L, Huang M, Tan J, Qiao F, Zhu H, Hu P, Zhu Q, Xu Z, Wang Y.   +11 more
europepmc   +1 more source

Chromosomal Microarray Analysis Supplements Exome Sequencing to Diagnose Children with Suspected Inborn Errors of Immunity [PDF]

, 2022
Breanna Beers, Morgan Similuk, Rajarshi Ghosh, Bryce A. Seifert, Leila Jamal, Michael Kamen, Michael Setzer, Colleen Jodarski, Rylee Duncan, Devin Hunt, Madison Mixer, Wenjia Cao, Weimin Bi, Daniel Veltri, Eric Karlins, Lingwen Zhang, Zhiwen Li, Kathleen Jevtich, Yunting Yu, Haley Hullfish, Bibi Bielekova, Pamela A. Frischmeyer‐Guerrerio, An Dang, Laryssa A. Huryn, Kenneth N. Olivier, Helen C. Su, Jonathan J. Lyons, Christa S. Zerbe, V. Koneti Rao, Michael D. Keller, Alexandra F. Freeman, Steven M. Holland, Luis M. Franco, Magdalena Walkiewicz, Jia Yan   +34 more
openalex   +1 more source

Genetic Diagnosis and Clinical Features of Fetuses With Congenital Diaphragmatic Hernia

Prenatal Diagnosis, EarlyView.
ABSTRACT Objective Congenital diaphragmatic hernia (CDH) is a rare abnormality with highly heterogeneous genetic causes. This study investigated chromosomal and monogenic abnormalities in fetal CDH patients and evaluated the efficacy of chromosomal microarray analysis (CMA) and whole‐exome sequencing (WES) for genetic diagnosis.
Yan Lü, Yi Yu, Jiazhen Chang, Mengmeng Li, Xueting Yang, Xiya Zhou, Na Hao, Hua Meng, Zhenghong Li, Lishuang Ma, Hui You, Shan Jian, Ying Wang, Shengjie Li, Yiqing Yu, Kaili Yin, Mingming Wang, Yulin Jiang, Qingwei Qi   +18 more
wiley   +1 more source

Clinical utility of chromosomal microarray analysis and whole exome sequencing in foetuses with oligohydramnios. [PDF]

Ann Med, 2023
Shi X, Ding H, Li C, Liu L, Yu L, Zhu J, Wu J.   +6 more
europepmc   +1 more source

Validation of microarray comparative genomic hybridization for comprehensive chromosome analysis of embryos

, 2010
Cristina Gutiérrez-Mateo, P. Colls, Jorge Sánchez-García, Tomás Escudero, R. Prates, K. Ketterson, Dagan Wells, S. Munné   +7 more
openalex   +1 more source

Meta-analysis of microarray datasets identify several chromosome segregation-related cancer/testis genes potentially contributing to anaplastic thyroid carcinoma [PDF]

, 2018
Mu Liu, Yulu Qiu, Tong Jin, Lanying Li, Zhiyuan Mao, Yongjie Zhang   +5 more
openalex   +1 more source

Whole Genome Sequencing in Prenatal Diagnostics: The Danish Approach to Guideline Formation and Implementation Within Public Healthcare

Prenatal Diagnosis, EarlyView.
ABSTRACT Objective To describe the implementation of whole genome sequencing (WGS) in prenatal diagnostics and outline the national guideline system facilitating this. Methods Clinical guidelines for WGS in prenatal diagnostics were developed and implemented by the Danish Fetal Medicine Society.
Ida Vogel, Lotte Andreasen, Marie Balslev‐Harder, Naja Becher, Anja Ernst, Kasper Gadsbøll, Tina Duelund Hjortshøj, Marie Skov Hvidbjerg, Martin Larsen, Stina Lou, Ida Charlotte Bay Lund, Lars Henning Pedersen, Laura Kirstine Sønderberg Roos, Lene Sperling, Lone Sunde, Pernille Mathiesen Tørring, Cathrine Vedel, Olav Bjørn Petersen   +17 more
wiley   +1 more source

TBIO-05. INTEGRATION OF GENOMIC DATA FROM THE ONCOKIDSSM NEXT GENERATION SEQUENCING PANEL AND CHROMOSOMAL MICROARRAY ANALYSIS FOR DIAGNOSIS AND PROGNOSIS OF PEDIATRIC CNS TUMORS [PDF]

, 2018
Kristiyana Kaneva, Matthew Hiemenz, Jianling Ji, Nathan Robison, Ashley Margol, Girish Dhall, Jennifer Cotter, Debra Hawes, Alexander R. Judkins, Jaclyn A. Biegel   +9 more
openalex   +1 more source

Clinical utility of expanded non‐invasive prenatal screening and chromosomal microarray analysis in high‐risk pregnancy [PDF]

, 2020
Xiaofan Zhu, Min Chen, Hanxi Wang, Y. Guo, Matthew Hoi Kin Chau, Hao Yan, Yanwei Cao, Yvonne KY Kwok, J. Chen, Shuk Yi Annie Hui, Rui Zhang, Zhuo‐Xian Meng, Yaping Zhu, Tak Yeung Leung, Likuan Xiong, Xiangdong Kong, Kwong Wai Choy   +16 more
openalex   +1 more source

A Prospective Evaluation of the Diagnostic Utility for Low‐Coverage Genome Sequencing in Prenatal Samples: A Comparison With Chromosomal Microarray Analysis

Prenatal Diagnosis, EarlyView.
ABSTRACT Objective The present study aimed to evaluate the efficacy of LC‐GS in detecting clinically relevant chromosomal abnormalities in comparison with conventional CMA within a prenatal context. Methods We conducted a prospective study involving 200 amniotic fluid samples.
Yan Yin, Yuxia He, Chun Chen, Yanyan He, Jin Wang, Shengfang Qin, Hongna Wang, Kun Ma, Dahui Hu, Rui Xiao, Gang Wang, Xueyan Wang   +11 more
wiley   +1 more source