Results 21 to 30 of about 317,190 (282)

Genetic counseling for a prenatal diagnosis of structural chromosomal abnormality with high-resolution analysis using a single nucleotide polymorphism microarray

Clinics and Practice, 2016
A 41-year old pregnant woman underwent amniocentesis to conduct a conventional karyotyping analysis; the analysis reported an abnormal karyotype: 46,XY,add(9)(p24). Chromosomal microarray analysis (CMA) is utilized in prenatal diagnoses.
Akiko Takashima, Naoki Takeshita, Toshihiko Kinoshita   +2 more
doaj   +1 more source

Mean Expression of the X-Chromosome is Associated with Neuronal Density. [PDF]

, 2012
peer reviewedBackground: Neurodegenerative diseases are characterized by key features such as loss of neurons, astrocytosis, and microglial activation/proliferation. These changes cause differences in the density of cell types between control and disease
Pascal F. Durrenberger, James Thomas Swingland, Durrenberger, Pascal F, Swingland, James T., Reynolds, Richard, DEPREZ, Manuel, Pombo, A., Deprez, M, Roncaroli, F, Durrenberger, P.F., David T Dexter, Richard eReynolds, Dexter, DT, Turkheimer, Federico E; id_orcid, Turkheimer, Federico E., James T. Swingland, Ana Pombo, Federico Roncaroli, Turkheimer, FE, Swingland, J.T., Durrenberger, PF, David T. Dexter, Pombo, Ana, Dexter, David T, Durrenberger, Pascal F., Reynolds, R, Turkheimer, F.E., Manuel eDeprez, Swingland, James T, Federico E. Turkheimer, Dexter, D.T., Roncaroli, Federico, Federico eRoncaroli, Richard Reynolds, Reynolds, R., Turkheimer, Federico E, Manuel Deprez, Pombo, A, Pascal F Durrenberger, Ana ePombo, Dexter, David T., Deprez, M., Roncaroli, F., Swingland, JT   +43 more
core   +1 more source

Importance and usage of chromosomal microarray analysis in diagnosing intellectual disability, global developmental delay, and autism; and discovering new loci for these disorders

Molecular Cytogenetics, 2018
Background Chromosomal microarray analysis is a first-stage test that is used for the diagnosis of intellectual disability and global developmental delay. Chromosomal microarray analysis can detect well-known microdeletion syndromes.
Ahmet Cevdet Ceylan, Senol Citli, Haktan Bagis Erdem, Ibrahim Sahin, Elif Acar Arslan, Murat Erdogan   +5 more
doaj   +1 more source

Application of chromosome microarray analysis in prenatal diagnosis [PDF]

BMC Pregnancy and Childbirth, 2020
Abstract Background To explore the application value of chromosomal microarray analysis (CMA) in prenatal diagnosis. Methods The results of chromosome karyotype analysis and CMA of 477 cases undergoing amniocentesis were analyzed. The results of the no ultrasound abnormality group and the ultrasound abnormality group were compared separately.
Mingjing Xia, Xinhong Yang, Jing Fu, Zhenjuan Teng, Yan Lv, Lixia Yu   +5 more
openaire   +3 more sources

Empirical Bayesian models for analysing molecular serotyping microarrays [PDF]

, 2011
Background Microarrays offer great potential as a platform for molecular diagnostics, testing clinical samples for the presence of numerous biomarkers in highly multiplexed assays.
Hinds Jason, Richard Newton, Newton Richard, Hinds, J, Wernisch, L, Lorenz Wernisch, Jason Hinds, Wernisch Lorenz, Newton, R   +8 more
core   +5 more sources

Chromosome microarrays in human reproduction [PDF]

Human Reproduction Update, 2012
Chromosome microarray (CMA) testing allows automatic and easy identification of large chromosomal abnormalities detectable by conventional cytogenetics as well as the detection of submicroscopic chromosomal imbalances.A PubMed search was performed in order to review the current use of CMA testing in the field of human reproduction.
openaire   +2 more sources

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

Chromosomal microarrays testing in children with developmental disabilities and congenital anomalies

Jornal de Pediatria, 2015
OBJECTIVES: Clinical use of microarray-based techniques for the analysis of many developmental disorders has emerged during the last decade. Thus, chromosomal microarray has been positioned as a first-tier test. This study reports the first experience in
Guillermo Lay-Son, Karena Espinoza, Cecilia Vial, Juan C. Rivera, María L. Guzmán, Gabriela M. Repetto   +5 more
doaj   +3 more sources

Unexplained Pancytopenia in a Patient with 5q35.2-q35.3 Microduplication Encompassing NSD1: A Case Report

International Journal of Hematology-Oncology and Stem Cell Research, 2018
The 5q35.2-q35.3 duplication phenotype is characterized by growth delay, microcephaly, mental retardation and delayed bone aging. However, there has been no reports on the occurrence of pancytopenia as a consequence of 5q35.2-q35.3 duplication. A 42-year-
Sungwoo Park, Gyeong-Won Lee, Eun-Ha Koh, Hyun-Young Kim   +3 more
doaj   +1 more source

Copy number variation, chromosome rearrangement, and their association with recombination during avian evolution [PDF]

, 2010
Chromosomal rearrangements and copy number variants (CNVs) play key roles in genome evolution and genetic disease; however, the molecular mechanisms underlying these types of structural genomic variation are not fully understood.
Skinner, Benjamin M., Bunzey, Sydney K., Ellegren, Hans, Völker, Martin, Backström, Niclas, Langley, Elizabeth J, Griffin, Darren K.   +6 more
core   +1 more source