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Jillian S Parboosingh Selected Research

Dysostoses

9/2013Possible autosomal recessive inheritance in an infant with acrofacial dysostosis similar to Nager syndrome.
1/2013Identification of novel mutations confirms PDE4D as a major gene causing acrodysostosis.
5/2012Haploinsufficiency of SF3B4, a component of the pre-mRNA spliceosomal complex, causes Nager syndrome.

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Jillian S Parboosingh Research Topics

Disease

4Mental Retardation (Idiocy)
12/2015 - 10/2009
3Dysostoses
09/2013 - 05/2012
1Atrophy
12/2015
1Retinitis Pigmentosa (Pigmentary Retinopathy)
08/2015
1Cataract (Cataracts)
11/2014
1Peroxisomal Disorders (Peroxisomal Disorder)
11/2014
1Microcephaly
11/2014
1Epilepsy (Aura)
11/2014
1Craniosynostoses (Craniosynostosis)
03/2014
1Loeys-Dietz Syndrome
03/2014
1Marfan Syndrome (Marfan's Syndrome)
03/2014
1Cleft Lip (Harelip)
02/2014
1Mandibulofacial Dysostosis (Treacher Collins Syndrome)
09/2013
1Pseudopseudohypoparathyroidism
01/2013
1Pseudohypoparathyroidism
01/2013
1Cerebellar Ataxia (Dysmetria)
10/2009
1Costello Syndrome
03/2008
1Atherosclerosis
05/2006
1Carotid Artery Diseases
05/2006
1Hemochromatosis (Bronze Diabetes)
05/2006

Drug/Important Bio-Agent (IBA)

2Nager type Acrofacial dysostosisIBA
09/2013 - 05/2012
1ManganeseIBA
12/2015
1zinc-binding protein (zinc binding protein)IBA
12/2015
1RNA Precursors (Precursor, mRNA)IBA
08/2015
1Proteasome Endopeptidase Complex (Proteasome)IBA
08/2015
1UbiquitinIBA
08/2015
1G-Protein-Coupled Receptors (Receptors, G Protein Coupled)IBA
08/2015
1hexadecanal dehydrogenase (acylating) (fatty acyl-CoA reductase)IBA
11/2014
1Neuraminidase deficiency with beta-galactosidase deficiencyIBA
03/2014
1Congenital diaphragmatic herniaIBA
02/2014
1Genee-Wiedemann syndromeIBA
09/2013
1Cyclic AMP (AMP, Cyclic)IBA
01/2013
1Chromosome 2q37 deletion syndromeIBA
01/2013
1AcrodysostosisIBA
01/2013
1Dysequilibrium syndromeIBA
10/2009
1Glycine (Aminoacetic Acid)FDA LinkGeneric
03/2008
1Ferritins (Ferritin)IBA
05/2006
1IronIBA
05/2006