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Lorraine Potocki Selected Research

Smith-Magenis Syndrome

8/2011Abnormal circadian rhythm of melatonin in Smith-Magenis syndrome patients with RAI1 point mutations.
3/2010Identification of uncommon recurrent Potocki-Lupski syndrome-associated duplications and the distribution of rearrangement types and mechanisms in PTLS.
4/2007Characterization of Potocki-Lupski syndrome (dup(17)(p11.2p11.2)) and delineation of a dosage-sensitive critical interval that can convey an autism phenotype.
11/2006RAI1 point mutations, CAG repeat variation, and SNP analysis in non-deletion Smith-Magenis syndrome.
11/2003Variability in clinical phenotype despite common chromosomal deletion in Smith-Magenis syndrome [del(17)(p11.2p11.2)].

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Lorraine Potocki Research Topics

Disease

5Mental Retardation (Idiocy)
02/2014 - 10/2005
5Smith-Magenis Syndrome
08/2011 - 11/2003
3Failure to Thrive
02/2014 - 04/2011
2Muscle Hypotonia (Hypotonia)
02/2014 - 10/2013
2Autistic Disorder (Autism)
10/2013 - 04/2007
2Obesity
01/2012 - 01/2011
1Pervasive Child Development Disorders
02/2014
1Hypoplastic Left Heart Syndrome
11/2013
1Cardiovascular Diseases (Cardiovascular Disease)
01/2012
1Heart Diseases (Heart Disease)
01/2012
1Cardiovascular Abnormalities
01/2012
1Common Variable Immunodeficiency
06/2011
1Aneurysm (Aneurysms)
05/2011
1Deglutition Disorders (Dysphagia)
04/2011
1Hypoglycemia (Reactive Hypoglycemia)
01/2011
1Adrenal Insufficiency (Adrenal Gland Hypofunction)
01/2011
1Weight Gain
01/2011
1Multiple Hereditary Exostoses (Hereditary Multiple Exostoses)
03/2010
1Craniofacial Abnormalities
03/2010
1Sensorineural Hearing Loss
03/2010
1GM1 Gangliosidosis (Gangliosidosis GM1)
01/2008
1Genomic Instability
04/2007
1Trisomy (Trisomies)
10/2005
1Smith-Lemli-Opitz Syndrome
09/2005
1Chromosome Aberrations (Chromosome Abnormalities)
02/2004
1X-Linked Ichthyosis (Ichthyosis, X Linked)
11/2002
1Hypercholesterolemia
05/2002

Drug/Important Bio-Agent (IBA)

6Potocki-Lupski syndromeIBA
02/2014 - 04/2007
2trisomy 17p11 2 Chromosome 17IBA
04/2011 - 10/2005
2Tretinoin (Retinoic Acid)FDA LinkGeneric
11/2006 - 11/2003
2Estriol (Epiestriol)IBA
09/2005 - 11/2002
112- (4'- azido- 2'- nitrophenoxy)dodecanoyl- coenzyme AIBA
11/2013
1Coarctation of the aortaIBA
11/2013
1Insulin (Novolin)FDA Link
01/2012
1MelatoninIBA
08/2011
1Transmembrane Activator and CAML Interactor ProteinIBA
06/2011
1glucuronyl glucosamine glycan sulfate (Vessel)IBA
05/2011
1Nonsense Codon (Nonsense Mutation)IBA
01/2011
1Adrenocorticotropic Hormone (ACTH)FDA Link
01/2011
1Pro-Opiomelanocortin (Proopiomelanocortin)IBA
01/2011
1Potocki-Shaffer syndromeIBA
03/2010
1Protons (Proton)IBA
01/2008
1N-acetylaspartate (N-acetyl aspartate)IBA
01/2008
1glycocyamineIBA
01/2008
1Inositol (Myoinositol)IBA
01/2008
1Genetic Markers (Genetic Marker)IBA
10/2005
17-dehydrocholesterol reductaseIBA
09/2005
1trisomy mosaic Chromosome 14IBA
02/2004
1Biological Markers (Surrogate Marker)IBA
05/2002