Results 11 to 20 of about 317,190 (282)

Abnormal chromosomes identification using chromosomal microarray

Journal of Obstetrics and Gynaecology, 2022
In this study, we presented a case series to highlight the chromosomal microarray (CMA) in identifying chromosomal abnormalities which is undetectable by conventional karyotyping or known abnormal chromosomes without clear diagnosis. Extensive studies showed that CMA was gradually accepted as a prenatal invasive testing during pregnancy.
Yunfang Shi, Xiaozhou Li, Duan Ju, Yan Li, Xiuling Zhang, Ying Zhang   +5 more
core   +4 more sources

Chromosomal microarray in isolated congenital and developmental cataract

The Pan-American Journal of Ophthalmology, 2021
Introduction: The etiologies of congenital and developmental cataracts are diverse. Most are not syndromic and have no identifiable cause, thus creating a diagnostic dilemma.
Thales A. C De Guimarães, Jenina E Capasso, Nicholas R Bello, Nutsuchar Wangtiraumnuay, Michelle D Lingao, Wadakarn Wuthisiri, Yu-Hung Lai, Erica S Johnson, Mario Zanolli, Vikas Khetan, Renu Bajaj, Zi-Xuan Wang, Stephen C Peiper, Alex V Levin   +13 more
doaj   +2 more sources

Chromosomal Abnormalities Detected by Chromosomal Microarray Analysis and Karyotype in Fetuses with Ultrasound Abnormalities [PDF]

International Journal of General Medicine
Liubing Lan,1,2 Dandan Luo,1,2 Jianwen Lian,1 Lingna She,1,3 Bosen Zhang,1,3 Hua Zhong,1 Huaxian Wang,1 Heming Wu1 1Department of Prenatal Diagnostic Center, Meizhou People’s Hospital, Meizhou, People’s Republic of China; 2Department of Obstetrics ...
Lan L, Luo D, Lian J, She L, Zhang B, Zhong H, Wang H, Wu H   +7 more
doaj   +1 more source

Chromosomal Microarray Reinterpretation: Applications to Pediatric Practice

The Journal of Pediatrics, 2022
Chromosomal microarray analysis (CMA) frequently yields inconclusive results. We reexamined inconclusive CMA results from 33 previously tested patients and reached a definitive diagnosis in 3 (9.1%) and identified the need for additional testing in 4 (12.1%). Reinterpretation may resolve inconclusive CMA results.
Guanglu Shi, Jing Xu, Shirelle F. Barnes, Midhat S. Farooqi, Hung S. Luu, Garrett Gotway, Jason Y. Park   +6 more
openaire   +3 more sources

Application of chromosomal microarray analysis in products of miscarriage [PDF]

Molecular Cytogenetics, 2018
Background Chromosomal abnormality is one of the major cause of spontaneous abortion. Most available guidelines suggest genetic testing after three miscarriages, which has been proved to be difficult to adhere to and somewhat of low cost-effectiveness ...
Xiangyu Zhu, Jie Li, Yujie Zhu, Wanjun Wang, Xing Wu, Ying Yang, Leilei Gu, Yuanyuan Gu, Yali Hu   +8 more
doaj   +3 more sources

MACAT--microarray chromosome analysis tool [PDF]

Bioinformatics, 2004
By linking differential gene expression to the chromosomal localization of genes, one can investigate microarray data for characteristic patterns of expression phenomena involving sizeable parts of specific chromosomes. We have implemented a statistical approach for identifying significantly differentially expressed chromosome regions.
Joern Toedling, Sebastian Schmeier, Matthias Heinig, Benjamin Georgi, Stefan Roepcke   +4 more
openaire   +5 more sources

Microarray image processing: A novel neural network framework [PDF]

, 2011
This thesis was submitted for the degree of Doctor of Philosophy and awarded by Brunel University.Due to the vast success of bioengineering techniques, a series of large-scale analysis tools has been developed to discover the functional organization of ...
Zineddin, Bachar
core   +7 more sources

Utility of chromosomal microarray in anomalous fetuses [PDF]

Prenatal Diagnosis, 2018
AbstractObjectiveThe objective of this study was to determine the association of copy number variants (CNV) with perinatal outcomes among fetuses with sonographic abnormalities.MethodsThis was a retrospective cohort study of anomalous fetuses evaluated at a single fetal center, who underwent chromosomal microarray (CMA) testing.
Jacqueline G. Parchem, Teresa N. Sparks, Kristen Gosnell, Mary E. Norton   +3 more
openaire   +4 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

Screening for intellectual disability using high-resolution CMA technology in a retrospective cohort from Central Brazil. [PDF]

PLoS ONE, 2014
Intellectual disability is a complex, variable, and heterogeneous disorder, representing a disabling condition diagnosed worldwide, and the etiologies are multiple and highly heterogeneous.
Rodrigo Roncato Pereira, Irene Plaza Pinto, Lysa Bernardes Minasi, Aldaires Vieira de Melo, Damiana Mirian da Cruz e Cunha, Alex Silva Cruz, Cristiano Luiz Ribeiro, Cláudio Carlos da Silva, Daniela de Melo e Silva, Aparecido Divino da Cruz   +9 more
doaj   +1 more source