Results 1 to 10 of about 4,347,546 (316)
Performance Evaluation of Noninvasive Prenatal Testing in Screening Chromosome Disorders: A Single-Center Observational Study of 15,304 Consecutive Cases in China [PDF]
International Journal of Women's HealthQiang Ye,1 Guoping Huang,1 Qin Hu,1 Qin Man,2 Xiaoying Hao,3 Liangyan Liu,4 Qiang Zhong,1 Zhao Jin2 1Department of Clinical Laboratory, West China Second University Hospital, Southern Sichuan Women’s and Children’s Hospital, Zigong, Sichuan, 643000 ...
Ye Q +7 more
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Mouse models of aneuploidy to understand chromosome disorders. [PDF]
Mamm Genome, 2022 An organism or cell carrying a number of chromosomes that is not a multiple of the haploid count is in a state of aneuploidy. This condition results in significant changes in the level of expression of genes that are gained or lost from the aneuploid ...
Tosh J, Tybulewicz V, Fisher EMC.
europepmc +2 more sources
The comorbidity of autism with the genomic disorders of chromosome 15q11.2-q13
Neurobiology of Disease, 2010 A cluster of low copy repeats on the proximal long arm of chromosome 15 mediates various forms of stereotyped deletions and duplication events that cause a group of neurodevelopmental disorders that are associated with autism or autism spectrum disorders
Amber Hogart +3 more
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The Chromosome Disorders [PDF]
Archives of Disease in Childhood, 1967 G. Valentine
semanticscholar +3 more sources
Neurodevelopmental disorders involving genomic imprinting at human chromosome 15q11–q13
Neurobiology of Disease, 2010 Human chromosome 15q11–q13 is subject to regulation by genomic imprinting, an epigenetic process by which genes are expressed in a parent-of-origin specific manner.
Stormy J. Chamberlain, Marc Lalande
doaj +2 more sources
Sex: A Significant Risk Factor for Neurodevelopmental and Neurodegenerative Disorders
Brain Sciences, 2018 Males and females sometimes significantly differ in their propensity to develop neurological disorders. Females suffer more from mood disorders such as depression and anxiety, whereas males are more susceptible to deficits in the dopamine system ...
Paulo Pinares-Garcia +4 more
doaj +2 more sources
Simultaneous 9p Deletion and 8p Duplication in a Seven-Year-Old Girl, Detected Using Multiplex Ligation-Dependent Probe Amplification: A Case Report [PDF]
Iranian Journal of Medical Sciences, 2022 Deletion 9p syndrome is a rare chromosomal abnormality with a wide spectrum of manifestations such as craniofacial dysmorphism, congenital anomalies, and psychomotor delay.
Mozhgan Saberi, Frouzandeh Mahjoubi
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The Chromosome Disorders [PDF]
Postgraduate Medical Journal, 1966 J. Wilkins
openaire +2 more sources
Life, 2021 Next-generation sequencing (NGS) is emerging as a new method for the detection of clinically significant copy number variants (CNVs). In this study, we developed and validated rapid CNV-sequencing (rCNV-seq) for clinical application in prenatal diagnosis.
Xiya Zhou +8 more
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