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Telomeric 22q13 monosomy syndrome

Also Known As:
22q13.3 deletion syndrome; Chromosome 22q13.3 deletion syndrome; Phelan-McDermid Syndrome
Networked: 51 relevant articles (1 outcomes, 3 trials/studies)

Relationship Network

Bio-Agent Context: Research Results

Experts

1. Buxbaum, Joseph D: 6 articles (12/2015 - 05/2012)
2. Kolevzon, Alexander: 3 articles (12/2015 - 01/2013)
3. Boccuto, Luigi: 3 articles (01/2015 - 11/2011)
4. Canitano, Roberto: 3 articles (01/2014 - 01/2013)
5. Chen, Chin-Fu: 2 articles (04/2014 - 11/2011)
6. Rollins, Jonathan D: 2 articles (04/2014 - 11/2011)
7. Dwivedi, Alka: 2 articles (04/2014 - 11/2011)
8. Phelan, Katy: 2 articles (04/2014 - 11/2011)
9. Sarasua, Sara M: 2 articles (04/2014 - 11/2011)
10. Collins, Julianne S: 2 articles (04/2014 - 11/2011)

Related Diseases

1. Autistic Disorder (Autism)
2. Tuberous Sclerosis (Bourneville's Disease)
08/15/2013 - "Studies of single gene disorders, such as Phelan-McDermid syndrome, Fragile X and Tuberous Sclerosis, might be of significant help since the neurobiology of these disorders is clearer and clinical trials are already underway for these conditions. "
04/01/2015 - "This is recapitulated in models of Fragile X syndrome (FXS), Tuberous Sclerosis Complex (TSC), Angelman syndrome and Phelan-McDermid syndrome (PMS), all of which cause syndromic ASD. "
09/01/2010 - "It is estimated that a causative diagnosis may be shown in approximately 10-37% of the cases, including, congenital rubella, tuberous sclerosis, chromosome abnormalities such as fragile X syndrome and 22q13.3 deletion syndrome, Angelman, Williams, Smith-Magenis, Sotos, Cornelia de Lange, Möbius, Joubert and Goldenhar syndromes, Ito's hypomelanosis, as well as certain cerebral malformations and several inherited metabolic disorders. "
02/25/2015 - "These entities include fragile X syndrome (GABAergic and metabotropic glutamate receptor inhibitors), tuberous sclerosis (mTOR inhibitors), Phelan-McDermid syndrome and Rett syndrome (insulin-like growth factor 1 inhibitors). "
06/01/2011 - "Known cases of MR involving inability to accurately interpret an outside source or stimuli are: Fragile-X syndrome; Tuberous sclerosis complex (TSC) with associated autism spectrum disorder (ASD); Rett syndrome; Autism and ASD with or without MR; Chromosome 22q13.3 deletion syndrome; familial dysautonomia, Prader-Willi's syndrome, Williams syndrome. "
3. Neurobehavioral Manifestations
4. Rhabdoid Tumor (Rhabdoid Tumors)
5. Muscle Hypotonia (Hypotonia)

Related Drugs and Biologics

1. Telomeric 22q13 monosomy syndrome
2. Proteins (Proteins, Gene)
3. Insulin (Novolin)
4. Glutamic Acid (Glutamate)
5. Metabotropic Glutamate Receptors (Metabotropic Glutamate Receptor)
6. Zinc
7. DNA (Deoxyribonucleic Acid)
8. Lennox-Gastaut type Epileptic encephalopathy
9. 1p36 deletion syndrome Chromosome 1

Related Therapies and Procedures

1. Liver Transplantation