Results 261 to 268 of about 54,834 (268)

Chromosomal microarray analysis of Bulgarian patients with epilepsy and intellectual disability

Gene, 2018
High resolution chromosomal microarray analysis (CMA) has facilitated the identification of small chromosomal rearrangements throughout the genome, associated with various neurodevelopmental phenotypes, including ID/DD. Recently, it became evident that intellectual disability (ID)/developmental delay (DD) can occur with associated co-morbidities like ...
Vanyo Mitev, Veneta Bozhinova, Ivailo Tournev, Valentina Peycheva, Sashka Zhelyazkova, Neviana Ivanova, Ivan Ivanov, Petya Dimova, Radka Kaneva, Dimitar Stamatov, Iliana A Alexandrova, Iliana Pacheva, Ivan Litvinenko, E Simeonov, Kunka Kamenarova, Daniela Avdjieva-Tzavella, Albena Jordanova, Albena Jordanova   +17 more
openaire   +4 more sources

[Chromosome microarray analysis of patients with 18q deletion syndrome].

Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics, 2016
To analyze the correlation between the genotype and phenotype of 18q deletion syndrome with chromosome microarray analysis (CMA).Eight cases with 18q deletion syndrome were selected, including two affected fetuses and six children patients. DNA was extracted and hybridized with Affymetrix CytoScan TM 750K arrays following the manufacturer's standard ...
Hongtao Wang, Feifei Chen, Jin Han, Yiyang Chen, Jiansuo Hao, Jiebin Feng, Tingyin Lei, Yongling Zhang, Qiaoli Guo, Can Liao, Fan Li, Ru Li   +11 more
openaire   +2 more sources

[Application of chromosomal microarray analysis for fetuses with talipes equinovarus].

Zhonghua fu chan ke za zhi, 2016
To investigate the application of fetuses with talipes equinovarus(TE)using chromosomal microarray analysis(CMA)technology.From May 2012 to June 2015, 54 fetuses were found with TE and with or without other structural anomalies by prenatal ultrasound. Karyotyping was taking for them all, and the fetuses with normal karyotypes took another CMA test. The
Tingying Lei, Qiaoli Guo, Xin Yang, Ru Li, Jin Han, Fang Fu, Min Pan, Xiangyi Jing, Can Liao, Li Zhen   +9 more
openaire   +3 more sources

ACMG Updates Chromosomal Microarray Analysis Guidelines

American Journal of Medical Genetics Part A, 2022
openaire   +2 more sources

Chromosomal Microarray Analysis in children with unexplained neurodevelopmental disorder

2023
[No abstract available]
Pariltay, Erhan, Ayyıldız Emecen, Durdugül, Özyılmaz, Berk, Türk, Tuba Sözen, Akın, Haluk, Çoğulu, Özgür, Avci Durmuşalioğlu, Enise   +6 more
openaire   +2 more sources

Chromosomal Microarray Analysis

2019
Jessica L. Giordano, Melissa Stosic, Brynn Levy, Ronald Wapner   +3 more
openaire   +1 more source

Chromosomal microarray analysis in congenital and developmental cataracts

Journal of American Association for Pediatric Ophthalmology and Strabismus, 2017
Michelle D. Lingao, Alex V. Levin, Erica S. Johnson, Nutsuchar Wangtiraumnuay, Vikas Khetan, Zixuan Wang, Jenina E. Capasso, Wadakarn Wuthisiri   +7 more
openaire   +2 more sources

Chromosomal Microarray Analysis Is Replacing the Karyotype in the Evaluation of Neonates

Yearbook of Neonatal and Perinatal Medicine, 2007
openaire   +2 more sources