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Santhosh Girirajan Selected Research

Smith-Magenis Syndrome

10/2010Rai1 haploinsufficiency causes reduced Bdnf expression resulting in hyperphagia, obesity and altered fat distribution in mice and humans with no evidence of metabolic syndrome.
4/2010Array comparative genomic hybridisation of 52 subjects with a Smith-Magenis-like phenotype: identification of dosage sensitive loci also associated with schizophrenia, autism, and developmental delay.
7/2009Distorted Mendelian transmission as a function of genetic background in Rai1-haploinsufficient mice.
8/2008How much is too much? Phenotypic consequences of Rai1 overexpression in mice.
4/2008Smith-Magenis syndrome.
3/2008Diagnosing Smith-Magenis syndrome and duplication 17p11.2 syndrome by RAI1 gene copy number variation using quantitative real-time PCR.
5/2007Smith-Magenis syndrome and Moyamoya disease in a patient with del(17)(p11.2p13.1).
11/2006RAI1 point mutations, CAG repeat variation, and SNP analysis in non-deletion Smith-Magenis syndrome.

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Santhosh Girirajan Research Topics

Disease

8Smith-Magenis Syndrome
10/2010 - 11/2006
4Mental Retardation (Idiocy)
08/2008 - 11/2006
2Schizophrenia (Dementia Praecox)
06/2013 - 01/2012
2Autistic Disorder (Autism)
05/2012 - 01/2012
2Obesity
01/2012 - 10/2010
1Dementia (Dementias)
08/2015
1Alzheimer Disease (Alzheimer's Disease)
08/2015
1Wolfram Syndrome (Syndrome, Wolfram)
01/2014
1Lysosomal Storage Diseases (Lysosomal Storage Disease)
01/2014
1Neuronal Ceroid-Lipofuscinoses (Neuronal Ceroid Lipofuscinosis)
01/2014
1Dyskinesias (Dyskinesia)
05/2012
1Facial Nerve Diseases (Facial Nerve Disorders)
05/2012
1Nervous System Diseases (Neurological Disorders)
03/2012
1Epilepsy (Aura)
03/2012
1Hyperphagia
10/2010

Drug/Important Bio-Agent (IBA)

7Tretinoin (Retinoic Acid)FDA LinkGeneric
10/2010 - 11/2006
1DNA-Binding Proteins (DNA Binding Protein)IBA
08/2015
1Apolipoprotein E4IBA
08/2015
1SynucleinsIBA
08/2015
1palmitoyl-protein thioesteraseIBA
01/2014
1SulfurIBA
01/2014
1IronIBA
01/2014
1N-Methylaspartate (NMDA)IBA
06/2013
1LDL-Receptor Related Protein 1 (LDL-Receptor Related Protein)IBA
06/2013
1ChromatinIBA
05/2012
1Adenylate Cyclase (Adenylyl Cyclase)IBA
05/2012
1Sodium Channels (Sodium Channel)IBA
03/2012
1Insulin (Novolin)FDA Link
01/2012
1DNA (Deoxyribonucleic Acid)IBA
01/2012
1Brain-Derived Neurotrophic Factor (BDNF)IBA
10/2010
1Potocki-Lupski syndromeIBA
03/2008
1trisomy 17p11 2 Chromosome 17IBA
03/2008