Results 221 to 230 of about 790,983 (253)

Copy number variations and fetal ventriculomegaly

Current Opinion in Obstetrics & Gynecology, 2018
Purpose of review Ventriculomegaly is one of the most common abnormal sonographic findings, which is associated with congenital infection, chromosomal and additional structural abnormalities. Currently, karyotype analysis is the primary method to detect chromosomal abnormalities in fetuses with ventriculomegaly.
Zhengfeng Xu, Ping Hu, Yan Wang
openaire   +3 more sources

Copy number variation in the autism genome

Expert Opinion on Medical Diagnostics, 2008
Autism spectrum disorders (ASDs) are among the most heritable of all neurodevelopmental disorders. Despite intense research there has been limited success in deciphering the etiology of ASDs.It has been shown that chromosomal rearrangements play an important role in ASDs.
openaire   +3 more sources

Copy number variation in the cattle genome

Functional & Integrative Genomics, 2012
Copy number variations (CNVs) are gains and losses of genomic sequence greater than 50 bp between two individuals of a species. While single nucleotide polymorphisms (SNPs) are more frequent, CNVs impact a higher percentage of genomic sequence and have potentially greater effects, including the changing of gene structure and dosage, altering gene ...
Derek M. Bickhart, George E. Liu
openaire   +3 more sources

Copy number variation of glyoxalase I

Biochemical Society Transactions, 2014
The glyoxalase I gene GLO1 is a hotspot for copy number variation in the human and mouse genomes. The additional copies are often functional, giving rise to 2–4-fold increased glyoxalase I expression and activity. The prevalence of GLO1 copy number increase in the human population appears to be approximately 2% and may be linked to a risk of obesity ...
Alaa Shafie, Paul J. Thornalley, Naila Rabbani, Mingzhan Xue   +3 more
openaire   +2 more sources

Bioinformatics for Copy Number Variation Data

2011
Copy number variation is known to be an important component of structural variation in the human genome. Greater than 1 kb in size, these gains and losses of genetic material are known to confer risk to many human diseases, both Mendelian and complex. Therefore, the technologies used to detect copy number variation have been quickly improving in both ...
Melissa Warden, Shahab Asgharzadeh, Antonio Ortega, Roger Pique-Regi   +3 more
openaire   +3 more sources

High resolution analysis of DNA copy number variation using comparative genomic hybridization to microarrays

Nature Genetics, 1998
D. Pinkel, R. Segraves, D. Sudar, S. Clark, I. Poole, D. Kowbel, C. Collins, W. Kuo, Chira Chen, Y. Zhai, S. Dairkee, B. Ljung, J. Gray, D. Albertson   +13 more
semanticscholar   +1 more source

The role of copy number variation in schizophrenia

Expert Review of Neurotherapeutics, 2010
Recent developments in microarray technology have revealed the presence of many submicroscopic deletions and duplications in the human genome. Some of these have been found to increase the risk for neuropsychiatric disorders. Over the last 2 years, several large studies on schizophrenia have implicated large deletions and duplications that increase the
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CONDEL: Detecting Copy Number Variation and Genotyping Deletion Zygosity from Single Tumor Samples Using Sequence Data

IEEE/ACM Transactions on Computational Biology & Bioinformatics, 2020
Xiguo Yuan, Jun Bai, Junying Zhang, Liying Yang, Junbo Duan, Yaoyao Li, Meihong Gao   +6 more
semanticscholar   +1 more source

Global Cancer Statistics, 2002

Ca-A Cancer Journal for Clinicians, 2005
Freddie Bray
exaly  

Colorectal cancer statistics, 2014

Ca-A Cancer Journal for Clinicians, 2014
Carol E Desantis, Ahmedin Jemal, Vinod Scaria   +2 more
exaly