22q11.2 deletion syndrome |
Autosomal dominant Opitz G/BBB syndrome; CATCH22; Caylor cardiofacial syndrome; Conotruncal anomaly face syndrome (CTAF); Deletion 22q11.2 syndrome; Sedlackova syndrome; Shprintzen syndrome; VCFS; Velo-cardio-facial syndrome |
Recent Blog Posts
View Post: Deviant trajectories of cortical maturation in 22q11.2 deletion ...
19 Oct 2009 by Marie Schaer, Martin Debbané, Meritxell...
To map cortical maturation from childhood to adulthood in 22q11.2 deletion syndrome, we used cerebral MRI from 59 patients with 22q11DS, aged 6 to 40, and 80 typically developing controls; three year follow-up assessments were also ...
View Blog: Schizophrenia Research - Articles in Press - http://www.schres-journal.com/inpress?rss=yes
View Post: Early intervention for toddlers with autism highly effective ...
29 Nov 2009 by BJS
In addition to autism, the MIND Institute has major research efforts in fragile X syndrome, Tourette syndrome, chromosome 22q11.2 deletion syndrome and ADHD. More information about the institute is available on the web at ...
View Blog: Science Blog - Science news straight from... - http://www.scienceblog.com/cms/frontpage1
View Post: Early intervention for toddlers with autism highly effective ...
30 Nov 2009
In addition to autism, the MIND Institute has major research efforts in fragile X syndrome, Tourette syndrome, chromosome 22q11.2 deletion syndrome and ADHD. Contact: Jane E. Rubinstein 212-843-8287. Autism Speaks ...
View Blog: Mental Health news from Armenian Medical Network - http://www.health.am/psy/
View Post: chdbabies: DiGeorge Syndrome and VCFS have Similar Chromosone ...
1 Aug 2009 by kelly manz
Many physicians and researchers today use the term 22q11.2 deletion syndrome because it describes the underlying chromosome problem, or Velo-Cardio-Facial Syndrome (VCFS) because it describes the main body systems involved. ...
View Blog: chdbabies - http://chdbabies.blogspot.com/
View Post: University of California - UC Newsroom
Simon Baron-Cohen to ...
18 Nov 2009 by help@ucop.edu ...
View Blog: http://www.universityofcalifornia.edu/news/
View Post: Refining the 22q11.2 deletion breakpoints in DiGeorge syndrome by aCGH
9 May 2009
Hemizygous deletions of the chromosome 22q11.2 region result in the 22q11.2 deletion syndrome also referred to as DiGeorge, Velocardiofacial or Shprintzen syndromes. The phenotype is variable but commonly includes conotruncal cardiac ...
View Blog: American Journal of Nephrology : Last 20 articles - http://content.karger.com/
View Post: Ruby Tylemmons: Post-Op Days 11-13
22 Nov 2009 by Kerry Tylenda-Emmons
She is a feisty little girl with Tetrology of Fallot, Pulmonary Atresia, Major Aortopulmonary Collateral Arteries, and 22q11.2 Deletion Syndrome. She also has some pretty horrible reflux. All her medical problems aside, ...
View Blog: Ruby Tylemmons - http://rubytylemmons.blogspot.com/
View Post: Irish Medical Times
Clinical TImes
Managing 22q11.2 deletion ... ...
View Blog: The most frequently occurring chromosomal microdeletion syndrome in humans is 22q11.2 deletion syndrome (DS), with an estimated incidence of one in 4000 live births. 22q11.2DS is also known as velo-cardio-facial syndrome (VCFS),
View Post: Copy number variations and risk for schizophrenia in 22q11.2 ...
20 Sep 2008 by Bassett, AS, Marshall, CR, Lionel, AC,...
22q11.2 Deletion Syndrome (22q11.2DS) is a common microdeletion syndrome with congenital and later onset features. Testing for the genomic content of copy number variations (CNVs) could help elucidate the 22q11.2 deletion mechanism and ...
View Blog: Human Molecular Genetics - Advance Access - http://hmg.oxfordjournals.org/
View Post: Genomic Studies Draw Autism and Schizophrenia Back Toward ...
5 Nov 2009
Even in 22q11.2 deletion syndrome (22qDS), our group (unpublished) and Murphy et al. (1999) have reported that there is no association between COMT genotype and schizophrenia, and Bearden et al. reported that Val-hemizygous patients ...
View Blog: Schizophrenia Research Forum: Research News - http://www.schizophreniaforum.org/new/newssearch.asp

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