A pioneering report of genome-wide gene expression in autism spectrum disorders (ASDs) finds genetic changes that help explain why one person has an ASD and another does not. The study, published by Cell Press on June 21 ...
Jun 21, 2012
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Chromosomal abnormalities linked to intellectual disability can be traced back to the father, particularly those who are older when the child is conceived, finds research published online in the Journal of Medical Genetics.
Oct 3, 2011
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An international research team led by Weill Cornell Medical College investigators have discovered two inherited-genetic deletions in the human genome linked to development of aggressive prostate cancer. The findings, published ...
Apr 9, 2012
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Duke researchers have connected very rare and precise duplications and deletions in the human genome to their complex disease consequences by duplicating them in zebrafish.
Oct 17, 2013
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Analysis of genetic variation in the exome, the DNA sequence of genes that are translated into protein, can aid in uncovering the cause of conditions for which no genetic cause could previously be found, and this can directly ...
Jun 1, 2014
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Genetic alterations of rare deletions or duplications of small DNA segments, called copy number variants (CNVs), have been known to increase risk of neurodevelopmental disorders such as schizophrenia, autism spectrum disorder, ...
Jun 28, 2017
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Using nanopore sequencing, a rapid third-generation cytogenetic analysis tool, investigators are now able to accurately detect specific genomic disorders in a fraction of the time it takes to conduct traditional and molecular ...
Jun 13, 2022
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By broadly comparing the DNA of children to that of elderly people, gene researchers have identified gene variants that influence lifespan, either by raising disease risk or by providing protection from disease.
Feb 4, 2013
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Deletions and duplications of DNA are responsible for wide-ranging developmental difficulties in children, finds a new study by Cardiff University.
May 3, 2019
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Although a family history of Alzheimer's disease is a primary risk factor for the devastating neurological disorder, mutations in only three genes – the amyloid precursor protein and presenilins 1 and 2 – have been established ...
Jun 17, 2013
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