Ferntree Gully's Renshaw family thanks Very Special Kids for help and support ...
Eight weeks later the family was told of Lily's chromosome deletion, an extremely rare condition. Her situation is unique, with no-one else in the world having the same deletion. Lily has vision and hearing impairments, a cleft palate, is PEG-fed, with ...
Herald Sun - Mon, 22 Sep 2014 07:15



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 14:43

A Link Between Jacobsen Syndrome and Autism
Scicasts - Wed, 17 Sep 2014 12:41

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

Sequenom Laboratories Presents New Data Supporting The Accuracy Of The ...
An ad hoc analysis of 185,000 samples from patients at high-risk for fetal chromosome aneuploidy demonstrated stable positivity rates for trisomy 21, 18 and 13, which mirror the positivity rates found in large studies on high-risk populations utilizing ...
PR Newswire (press release) - Mon, 22 Sep 2014 03:52

Predicting the human epigenome from DNA motifs
The motif that is recognized by the four TEAD family members was associated with H3K27ac in all cell types, which is consistent with loss of H3 acetylation following deletion of a TEAD binding site26 (Supplementary Note). Figure 3: The specificities of ...
Nature.com - Sun, 21 Sep 2014 14:02



Emily's 2014 Inshore Benefit Fishing Tournament
Emily is a ten-year-old little girl who is the only one in the world who has the genetic disorder Chromosome 2q36 Deletion Syndrome. She also has autism and epilepsy. This is an annual tournament to help raise funds for Emily's therapy at her special ...
YakAngler - Sun, 21 Sep 2014 20:56

Sequence-specific antimicrobials using efficiently delivered RNA-guided ...
Sequence analysis of 30 escape mutants (cells that receive and maintain an RGN plasmid despite the presence of a target sequence) revealed that tolerance was exclusively due to a defective construct that frequently arose from a spacer deletion within ...
Nature.com - Sun, 21 Sep 2014 10:54

Gilead Sciences' Zydelig receives EU marketing authorization for CLL ...
A chromosome 17 deletion - del (17p) or a mutation in the TP53 gene in CLL cells have been linked to poor prognosis and a more rapid disease progression. For these patients most conventional chemotherapy treatments are not effective and deliver poor ...
pharmabiz.com - Sun, 21 Sep 2014 20:22


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Last update: September 2014