Results 221 to 230 of about 55,479 (231)

[Chromosomal microarray analysis of 2000 pediatric cases].

Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics, 2016
To assess the feasibility of chromosomal microarray analysis(CMA) for studying the correlation between birth defects and chromosomal aberrations.A total of 2000 patients with birth defects were recruited for the CMA testing.Five hundred twenty two patients (26.1%) were found to have chromosomal abnormalities.
Haiming, Yuan, Junping, Zhu, Xiaoyan, Deng, Mengfan, Chen, Xinwei, Li, Qiuli, Li, Fen, Lyu   +6 more
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Mothers' appreciation of chromosomal microarray analysis for autism spectrum disorder

Journal for Specialists in Pediatric Nursing, 2015
AbstractPurposeThe aim of this study was to examine mothers' experiences with chromosomal microarray analysis (CMA) for a child with autism spectrum disorder (ASD).Design and MethodsThis is a descriptive qualitative study using thematic content analysis of in‐depth interview with 48 mothers of children who had genetic testing forASD.ResultsThe ...
Ellen, Giarelli, Marian, Reiff
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Information Women Choose to Receive About Prenatal Chromosomal Microarray Analysis

Obstetrics & Gynecology, 2019
OBJECTIVE: To examine the choices of women with both high-risk and low-risk pregnancies who are undergoing prenatal chromosomal microarray analysis in a clinical setting regarding three challenging types of findings: variants of uncertain clinical significance, susceptibility loci for neurodevelopmental disorders, and copy ...
Hagit, Hochner, Hagit, Daum, Liza, Douiev, Naama, Zvi, Ayala, Frumkin, Michal, Macarov, Adva, Kimchi-Shaal, Nuphar, Hacohen, Avital, Eilat, Duha, Faham, Shiri, Shkedi-Rafid   +10 more
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ACMG Updates Chromosomal Microarray Analysis Guidelines

American Journal of Medical Genetics Part A, 2022
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[Chromosomal microarray analysis for lateral ventriculomegaly in fetus].

Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics, 2016
To investigate the relationship between fetal lateral ventriculomegaly and chromosomal microarray analysis (CMA) abnormalities.Fifty fetuses with lateral ventriculomegaly detected by ultrasound and a normal karyotype were included. Forty four fetuses were classified as mild ventriculomegaly (MVM), in which the lateral ventricular atrium was 10-15 mm ...
Zhiqiang, Zhang, Yingjun, Xie, Jianzhu, Wu, Xiaodan, Chen, Shaobin, Lin, Yuanjun, Ji, Weiying, Jiang, Qun, Fang, Baojiang, Chen   +8 more
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Chromosomal Microarray Analysis Detection of Microdeletion on Chromosome 17 in Fetus

International Journal of Clinical Case Reports and Reviews
Backgroud:17p12microdeletion syndrome is a relatively rare chromosomal abnormality, which was accompanied with phenotypic variability. The reports on prenatal ultrasound abnormalities of fetus with 17p12 microdeletion are rare. Here we reported a case found by abnormal ultrasound appearance and verified by chromosomal microarray analysis.
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Chromosomal Microarray Analysis

2019
Jessica L. Giordano, Melissa Stosic, Brynn Levy, Ronald Wapner   +3 more
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Chromosomal microarray analysis in congenital and developmental cataracts

Journal of American Association for Pediatric Ophthalmology and Strabismus, 2017
Nutsuchar Wangtiraumnuay, Jenina Capasso, Michelle D. Lingao, Wadakarn Wuthisiri, Zi-Xuan Wang, Erica Johnson, Vikas Khetan, Alex V. Levin   +7 more
openaire   +1 more source

Chromosomal microarray analysis cost effective in USA

PharmacoEconomics & Outcomes News, 2018
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Clinical Applications of Whole-Genome Chromosomal Microarray Analysis

2013
David H. Ledbetter, Erin Rooney Riggs, Christa Lese Martin   +2 more
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