Results 31 to 40 of about 59,286 (281)
High resolution chromosomal microarray analysis in paediatric obsessive-compulsive disorder
BMC Medical Genomics, 2017 Background Obsessive-Compulsive Disorder (OCD) is a common and chronic disorder in which a person has uncontrollable, reoccurring thoughts and behaviours.
Edna Grünblatt +8 more
doaj +1 more source
Molecular Cytogenetics, 2022 Background Proximal region of chromosome 15 long arm is rich in duplicons that, define five breakpoints (BP) for 15q rearrangements. 15q11.2 microdeletion has been previously associated with developmental delay, mental retardation, epilepsy, autism ...
Wenjuan Tang +3 more
doaj +1 more source
Chromosomal microarray analysis in prenatal diagnosis
Clinical and Experimental Obstetrics & Gynecology, 2017 Genome copy number variation (CNV) is an important cause of genetic and developmental disorders. In recent years, chromosomal microarray analysis (CMA) technology to test for genomic copy number variation has been developed and gradually applied in prenatal diagnostics, offering high diagnostic ability.
Yingjun, Xie, Xiaofang, Sun
openaire +2 more sources
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 +43 more
core +1 more source
Clinical and Experimental Obstetrics & Gynecology, 2020 We report a case of prenatal diagnosis of mosaicism for chromosome t (7; 14) with a favorable fetal outcome. Similar chromosomal abnormalities have been observed in patients with hematologic malignancy.
D. Lu, D. Cao, Q. Zhao, X. Chen
doaj +1 more source
Microarray Analysis of Rat Chromosome 2 Congenic Strains [PDF]
Hypertension, 2003 Human essential hypertension is a complex polygenic trait with underlying genetic components that remain unknown. The stroke-prone spontaneously hypertensive rat (SHRSP) is a model of human essential hypertension, and a number of reproducible blood pressure regulation quantitative trait loci have been found to map to rat chromosome
Martin W, McBride +8 more
openaire +2 more sources
Clinical utility of chromosomal microarray analysis in invasive prenatal diagnosis [PDF]
, 2011 Novel methodologies for detection of chromosomal abnormalities have been made available in the recent years but their clinical utility in prenatal settings is still unknown.
Julián Nevado +28 more
core +1 more source
Comparison of chromosome analysis and chromosomal microarray analysis: what is the value of chromosome analysis in today’s genomic array era? [PDF]
Genetics in Medicine, 2013 Chromosomal microarray analysis enables the detection of microdeletions/duplications and has become the standard in clinical diagnostic testing for individuals with congenital anomalies and developmental disabilities. In the era of genomic arrays, the value of traditional chromosome analysis needs to be reassessed.We studied 3,710 unrelated patients by
Weimin, Bi +11 more
openaire +2 more sources
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 +9 more
doaj +1 more source
Indonesian Journal of Obstetrics and Gynecology, 2022 Objective : To perform chromosomal microarray when similar case was found. Methods: Case report Case : G1P0A0, 20 years-old, 23-24 weeks gestation, normal BMI, was diagnosed by ultrasonography with multiple congenital anomaly consisted by ...
Sefty M. Samosir +3 more
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