Most children with Rett syndrome have a mutation on the X chromosome, usually in a gene ... a second child with the condition is less than 1% unless the mother already has the MECP2 gene or ...

often resulting in a frameshift Cystic fibrosis Chromosomal mutation Inversion One region of a chromosome is flipped and reinserted Opitz-Kaveggia syndrome Deletion A region of a chromosome is ...

Down syndrome is caused by a translocation of chromosomes 15 and 21 (Figure 3), in which the long arms of two acrocentric chromosomes are translocated to produce a single long chromosome ...

Evidence of shared genetic associations between AD risk and regulation of nearby gene expression in brain tissue was demonstrated by 4 loci.

When a gene produces too much protein, it can have devastating consequences on brain development and function. Patients with an overproduction of protein from the chromodomain helicase DNA binding ...

A new UC Davis MIND Institute study offers critical insights into Rett syndrome, a rare genetic condition that affects mostly ...

Females usually have two X chromosomes, while males tend to have one X and one Y chromosome. But research suggests that the Y ...

Increased risk for autism appears to be linked to the Y chromosome, a study has found, offering a new explanation for the greater prevalence of autism in males.

In particular, it explains that humans have one fewer chromosome pair in their cells than apes, due to a mutation found in chromosome number 2 that caused two chromosomes to fuse into one.

The NF1-only by NGS involves sequencing as well as deletion/duplication analysis of the entire coding ... individuals including >8,100 NF1-mutation-positive individuals carrying 1 out of >3,100 ...

All men and only men have a Y chromosome. This biological fact allows us to trace back in time a direct, largely unchanged genetic line of inheritance from father to son. Every person, male or ...

The DNA-based NF1/SPRED1-only by NGS involves sequencing as well as deletion/duplication analysis of the entire ... including >8,100 NF1-mutation-positive individuals carrying 1 out of >3,100 ...