Results 21 to 30 of about 59,286 (281)

Prenatal Chromosomal Microarray Analysis: Does Increased Resolution Equal Increased Yield? [PDF]

Genes (Basel), 2023
Chromosomal microarray analysis (CMA) is considered a first-tier test for patients with developmental disabilities and congenital anomalies and is also routinely applied in prenatal diagnosis.
Mitrakos A, Kosma K, Makrythanasis P, Tzetis M.   +3 more
europepmc   +2 more sources

Chromosomal mosaicism detected by karyotyping and chromosomal microarray analysis in prenatal diagnosis [PDF]

Journal of Cellular and Molecular Medicine, 2020
AbstractTo investigate the incidence and clinical significance of chromosomal mosaicism (CM) in prenatal diagnosis by G‐banding karyotyping and chromosomal microarray analysis (CMA). This is a single‐centre retrospective study of invasive prenatal diagnosis for CM.
Yi Zhang, Mei Zhong, Dezhong Zheng
openaire   +2 more sources

Optical genome mapping for detection of chromosomal aberrations in prenatal diagnosis

Acta Obstetricia et Gynecologica Scandinavica, 2023
Introduction Chromosomal aberrations are the most important etiological factors for birth defects. Optical genome mapping is a novel cytogenetic tool for detecting a broad range of chromosomal aberrations in a single assay, but relevant clinical ...
Qinxin Zhang, Yan Wang, Yiyun Xu, Ran Zhou, Mingtao Huang, Fengchang Qiao, Lulu Meng, An Liu, Jing Zhou, Li Li, Xiuqing Ji, Zhengfeng Xu, Ping Hu   +12 more
doaj   +1 more source

Prenatal diagnosis of chromosomal aberrations by chromosomal microarray analysis in foetuses with ventriculomegaly [PDF]

Scientific Reports, 2020
AbstractVentriculomegaly is considered to be linked to abnormal neurodevelopment outcome. The aim of this retrospective study was to investigate the current applications of chromosomal microarray analysis (CMA) in foetuses with ventriculomegaly. A total of 548 foetuses with ventriculomegaly detected by prenatal ultrasound underwent single nucleotide ...
Wang, Jiamin, Zhang, Zhu, Li, Qinqin, Zhu, Hongmei, Lai, Yi, Luo, Wei, Liu, Shanling, Wang, He, Hu, Ting   +8 more
openaire   +2 more sources

A new direction for prenatal chromosome microarray testing: software-targeting for detection of clinically significant chromosome imbalance without equivocal findings [PDF]

PeerJ, 2014
Purpose. To design and validate a prenatal chromosomal microarray testing strategy that moves away from size-based detection thresholds, towards a more clinically relevant analysis, providing higher resolution than G-banded chromosomes but avoiding the ...
Joo Wook Ahn, Susan Bint, Melita D. Irving, Phillipa M. Kyle, Ranjit Akolekar, Shehla N. Mohammed, Caroline Mackie Ogilvie   +6 more
doaj   +2 more sources

Chromosomal variants accumulate in genomes of the spontaneous aborted fetuses revealed by chromosomal microarray analysis.

PLoS ONE, 2021
Spontaneous abortion is an impeding factor for the success rates of human assistant reproductive technology (ART). Causes of spontaneous abortion include not only the pregnant mothers' health conditions and lifestyle habits, but also the fetal ...
Sen Li, Lei-Ling Chen, Xing-Hua Wang, Hai-Jing Zhu, Xiao-Long Li, Xie Feng, Lei Guo, Xiang-Hong Ou, Jun-Yu Ma   +8 more
doaj   +2 more sources

Microarray data mining using Bioconductor packages [PDF]

, 2009
Background - This paper describes the results of a Gene Ontology (GO) term enrichment analysis of chicken microarray data using the Bioconductor packages.
Leunissen JA, van der Poel, J.J., van der Poel J, Martien AM Groenen, Neerincx, P., Groenen, M.A.M., Pieter BT Neerincx, Francesco Ferrari, Nie H, Neerincx PB, Nie, H., Silvio Bicciato, Ferrari, F., Groenen MA, Haisheng Nie, Leunissen, J.A.M., Bicciato, S., FERRARI, Francesco, Poel, J.J., van der, Jan Poel, Jack AM Leunissen, BICCIATO, Silvio   +21 more
core   +1 more source

Comparative genomics in chicken and Pekin duck using FISH mapping and microarray analysis [PDF]

, 2009
BACKGROUND: The availability of the complete chicken (Gallus gallus) genome sequence as well as a large number of chicken probes for fluorescent in-situ hybridization (FISH) and microarray resources facilitate comparative genomic studies between ...
Ioannou, D., Völker, Martin, Robertson, Lindsay, Langley, Elizabeth J, Robertson, Lindsay BW, Tempest, Helen G, Skinner, Benjamin M., Tempest, Helen G., Tempest, H., Völker, M., Skinner, M., Crooijmans, Richard P.M.A., Hall, Anthony D, Fowler, K., Skinner, Benjamin M, Robertson, L.B., Crooijmans, Richard PMA, Skinner, B., Fowler, Katie E., Griffin, Darren K, Langley, E.J., Crooijmans, R.P.M.A., Griffin, D., Hall, A., Robertson, L., Tempest, H.G., Ioannou, Dimitris, Fowler, K.E., Crooijmans, R., Griffin, Darren K., Langley, E.   +30 more
core   +1 more source

CGHpower: exploring sample size calculations for chromosomal copy number experiments [PDF]

, 2010
Background Determining a suitable sample size is an important step in the planning of microarray experiments. Increasing the number of arrays gives more statistical power, but adds to the total cost of the experiment.
Scheinin, A.I., Ferreira, J.A., Mark A van de Wiel, Scheinin Ilari, Gerrit A Meijer, Bauke Ylstra, Ylstra Bauke, Ilari Scheinin, Knuutila, Sakari, Ferreira, Jose A., José A Ferreira, Knuutila Sakari, Scheinin, Ilari, Knuutila, S., van de Wiel, Mark A., Wiel, M.A. van de, Sakari Knuutila, Ferreira José A, Ylstra, Bauke, Meijer Gerrit A, Meijer, Gerrit A., Ylstra, B., Meijer, G.A., van de Wiel, M.A., van de Wiel Mark A   +24 more
core   +1 more source

A new case of 17p13.3p13.1 microduplication resulted from unbalanced translocation: clinical and molecular cytogenetic characterization

Molecular Cytogenetics, 2021
Copy number gain 17 p13.3p13.1 was detected by chromosomal microarray (CMA) in a girl with developmental/speech delay and facial dysmorphism. FISH studies made it possible to establish that the identified genomic imbalance is the unbalanced t(9;17 ...
Zhanna G. Markova, Marina E. Minzhenkova, Lyudmila A. Bessonova, Nadezda V. Shilova   +3 more
doaj   +1 more source