Five children with deletions of 1p34.3 encompassing AGO1 and AGO3
Oligo/SNP Array analysis (Affymetrix, CytoScan HD, Santa Clara, CA, USA) showed a 3.1 Mb deletion in chromosomal region 1p34.3 (chr1.hg18:g.(35,543,882_35,544,184)_(38,659,938_38,667,647)del) (GRCH36/hg18) encompassing 33 OMIM genes. - Wed, 01 Oct 2014 03:17

Brain-specific Foxp1 deletion impairs neuronal development and causes autistic ...
FOXP1-specific deletions, mutations and chromosomal breakpoints interrupting the gene have been reported in patients with ID, ASD, speech and language deficits, and motor development delay.1, 2, 3, 4, 5 Collectively, these studies have provided strong ... - Tue, 30 Sep 2014 00:56

A Link Between Jacobsen Syndrome and Autism
It occurs in a person when there is a deletion at the end of one arm of the 11th chromosome, known as an 11q terminal deletion. The symptoms and physiological changes vary, but commonly include intellectual disability, abnormal facial development, ... (blog) - Sat, 13 Sep 2014 07:14

Zafgen Announces Initiation of Phase 3 Trial of Beloranib in Prader-Willi Syndrome
Although the cause is complex, it results from a deletion or loss of function of a cluster of genes on the 15th chromosome. PWS typically causes low muscle mass and function, short stature, incomplete sexual development, and a chronic feeling of hunger ...
NASDAQ - Wed, 01 Oct 2014 03:52

Link Found in S.D. Between Genetic Disorder and Autism
According to the National Institutes of Health, Jacobsen Syndrome results from the loss of genetic material in a chromosome. While symptoms vary, some of the typical effects are delayed development of motor skills, cognitive impairment and behavioral ...
Times of San Diego - Wed, 17 Sep 2014 15:03

Study: Jacobsen syndrome linked to autism
10News - Wed, 17 Sep 2014 11:56

Rare Genetic Disorder Connected to Autism
Science World Report - Wed, 17 Sep 2014 06:18

Brother and uncle of Thornaby teenager are going to great heights for rare ...
Bubbly Michaela was born with a chromosome deletion - known as 2Q37.1 - which has delayed her development and means that although she turns 13 on Sunday, she is working more at the level of a five-and-a-half-year-old. Her family don't know what the ...
Gazette Live - Fri, 19 Sep 2014 08:01

Local family invited to speak at corporate event
Based upon her clinical findings Dr. Skinner ordered a genetic test called a chromosomal microarray (CMA) which detected Ryleigh's rare chromosome deletion. The Shenals were asked to share how the technology impacted their lives at the company where ...
GwdToday - Wed, 24 Sep 2014 06:33

LKB1 reduces ROS-mediated cell damage via activation of p38
ROS are the major sources of DNA damage and are substantial factors contributing to the accumulation of mutations and deletions and chromosome instability, which may lead to cancer. Thus, reduction of ROS may represent a plausible mechanism ... - Mon, 29 Sep 2014 03:06

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Last update: September 2014