|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)|
|1.||Autistic Disorder (Autism)
01/01/2013 - "In this issue of Molecular Autism, Soorya and colleagues evaluated 32 patients with Phelan-McDermid syndrome, caused by either deletion of 22q13.33 or SHANK3 mutations, using gold-standard diagnostic assessments and showed that 84% met criteria for ASD, including 75% meeting criteria for autism. "
04/01/2014 - "As with other autism-related disorders, children with Phelan-McDermid Syndrome need sameness and continuity in their environment. "
04/01/2014 - "Patients with Phelan-McDermid Syndrome, especially children, can be a challenge for dental professionals, as it is often associated with autism. "
01/01/2014 - "Deletion of shank3 in humans is a monogenic cause of autism called Phelan-McDermid syndrome. "
05/09/2012 - "Three independent cohorts were evaluated for magnitude and replicability of behavioral endophenotypes relevant to autism and Phelan-McDermid syndrome. "
|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. "
|4.||Rhabdoid Tumor (Rhabdoid Tumors)
|5.||Muscle Hypotonia (Hypotonia)
01/01/2015 - "The deletion 22q13.3 syndrome (Phelan-McDermid syndrome) is a chromosome microdeletion syndrome characterized by neonatal hypotonia, global developmental delay, normal to accelerated growth, absent to severely delayed speech, and minor dysmorphic features. "
04/01/2014 - "Deletion Syndrome 22q13 (or Phelan-McDermid Syndrome) is a very rare genetic disorder characterized by general neonatal hypotonia, absent to delayed speech, and global developmental delays. "
03/01/2014 - "Phelan-McDermid syndrome, also known as the 22q13 deletion syndrome, is a chromosomal microdeletion syndrome characterized by neonatal hypotonia, normal growth, profound developmental delay, absent or delayed speech, and minor dysmorphic features. "
11/01/2011 - "The clinical features of Phelan-McDermid syndrome (also known as 22q13 deletion syndrome) are highly variable and include hypotonia, speech and other developmental delays, autistic traits and mildly dysmorphic features. "
01/01/2011 - "Phelan-McDermid syndrome (22q 13 microdeletion syndrome) is characterized by generalized hypotonia, global psychomotor development delay, absent or delayed speech development and autistic behaviour. "
|1.||Telomeric 22q13 monosomy syndrome
|2.||Proteins (Proteins, Gene)
|4.||Glutamic Acid (Glutamate)
|5.||Metabotropic Glutamate Receptors (Metabotropic Glutamate Receptor)
|7.||DNA (Deoxyribonucleic Acid)
|8.||Lennox-Gastaut type Epileptic encephalopathy
|9.||1p36 deletion syndrome Chromosome 1