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Elias I Traboulsi Selected Research

Snowflake vitreoretinal degeneration

7/2015A Novel KCNJ13 Nonsense Mutation and Loss of Kir7.1 Channel Function Causes Leber Congenital Amaurosis (LCA16).

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Elias I Traboulsi Research Topics

Disease

7Cataract (Cataracts)
10/2014 - 06/2003
5Retinitis Pigmentosa (Pigmentary Retinopathy)
12/2015 - 07/2004
3Leber Congenital Amaurosis
07/2015 - 12/2009
3Retinal Degeneration
01/2015 - 12/2005
3Ectopia Lentis
05/2014 - 01/2012
3Marfan Syndrome (Marfan's Syndrome)
04/2014 - 03/2003
3Strabismus (Squint)
06/2010 - 01/2003
3Retinal Dystrophies
12/2009 - 10/2007
3Coloboma
01/2009 - 09/2006
3Myopia
11/2007 - 01/2003
2Mental Retardation (Idiocy)
09/2012 - 12/2006
2Microcephaly
09/2012 - 10/2007
2Epilepsy (Aura)
09/2012 - 09/2006
2Hamartoma
09/2012 - 12/2010
2Cysts
06/2011 - 03/2002
2Weill-Marchesani Syndrome
05/2011 - 12/2008
2Neoplasms (Cancer)
12/2010 - 03/2006
2Amblyopia (Lazy Eye)
11/2007 - 01/2003
2Neutropenia
10/2007 - 07/2004
2Fibrosis (Cirrhosis)
05/2004 - 12/2003
1Abscess
11/2014
1Aphakia
10/2014
1Astigmatism
10/2014
1Lens Subluxation
04/2014
1Retinal Diseases
10/2013
1Cryopyrin-Associated Periodic Syndromes
12/2012
1Fever (Fevers)
12/2012
1Familial Mediterranean Fever (Periodic Disease)
12/2012
1Microphthalmos
09/2012
1Tuberous Sclerosis (Bourneville's Disease)
09/2012
1Hirschsprung Disease (Hirschsprung's Disease)
09/2012
1Angiomyolipoma
09/2012
1Heart Diseases (Heart Disease)
09/2012
1Astrocytoma (Pilocytic Astrocytoma)
09/2012
1Low Vision (Subnormal Vision)
06/2011
1Retinal Dysplasia
06/2011
1Xerophthalmia
01/2011
1Meningioma (Meningiomas)
12/2010
1Epiretinal Membrane (Epiretinal Membranes)
12/2010
1Granuloma Annulare
06/2010
1Nervous System Diseases (Neurological Disorders)
01/2010
1Color Vision Defects (Color Blindness)
01/2008
1Obesity
10/2007
1Muscle Hypotonia (Hypotonia)
10/2007
1Joint Instability (Joint Laxity)
10/2007
1Vasculitis (Vasculitides)
06/2007
1Cerebellar Ataxia (Dysmetria)
12/2006
1Exotropia (Exophoria)
12/2006
1Diplopia (Double Vision)
12/2006
1Wilms Tumor (Wilm's Tumor)
12/2006
1Seizures (Seizure)
12/2006
1Aniridia
12/2006
1Hypopigmentation (Hypomelanosis)
12/2006
1Autistic Disorder (Autism)
12/2006
1Mitochondrial Encephalomyopathies (Mitochondrial Encephalomyopathy)
11/2006
1Kearns-Sayre Syndrome
11/2006
1Myoclonic Epilepsies (Myoclonic Encephalopathy)
11/2006
1Ganglion Cysts (Ganglion)
11/2006
1Lactic Acidosis
11/2006

Drug/Important Bio-Agent (IBA)

12Retinaldehyde (Retinal)IBA
12/2015 - 01/2003
3Transcription Factors (Transcription Factor)IBA
12/2009 - 10/2002
2Nonsense Codon (Nonsense Mutation)IBA
07/2015 - 10/2005
2Proteins (Proteins, Gene)IBA
05/2014 - 12/2013
2fibrillinIBA
12/2013 - 05/2011
2Senior Loken SyndromeIBA
01/2011 - 12/2006
2Cohen syndromeIBA
10/2007 - 07/2004
2FRZB proteinIBA
12/2005 - 07/2005
1Rhodopsin (Visual Purple)IBA
12/2015
1Kir7.1 channelIBA
07/2015
1Inwardly Rectifying Potassium Channels (Inward Rectifier Potassium Channels)IBA
07/2015
1Snowflake vitreoretinal degenerationIBA
07/2015
1Carbonic Anhydrase InhibitorsIBA
01/2015
1Fluconazole (Zonal)FDA LinkGeneric
11/2014
12'- deoxythymidylyl- (3'- 5')- 2'- deoxyadenosine (d(AT))IBA
10/2014
1Epidermal Growth Factor (EGF)IBA
05/2014
1RNA Precursors (Precursor, mRNA)IBA
12/2013
1DNA (Deoxyribonucleic Acid)IBA
10/2013
1Synovitis granulomatous with uveitis and cranial neuropathiesIBA
12/2012
1Mowat-Wilson syndromeIBA
09/2012
1Familial ectopia lentisIBA
01/2012
1disodium salt olean-11,13(18)-diene-3,30-diol dihemiphthalateIBA
06/2011
1Vitamin A (Retinol)FDA LinkGeneric
01/2011
1ethylene diurea (EDU)IBA
06/2010
1TubulinIBA
01/2010
1Crystallins (Crystallin)IBA
12/2009
1Threonine (L-Threonine)FDA Link
01/2009
1Arginine (L-Arginine)FDA Link
01/2009
1Protein Sorting Signals (Signal Peptide)IBA
12/2008
1Cyclic Nucleotide-Gated Cation ChannelsIBA
01/2008
1GuanineIBA
01/2008
1Carrier Proteins (Binding Protein)IBA
01/2008
1Adrenal Cortex Hormones (Corticosteroids)IBA
06/2007
1Aniridia cerebellar ataxia mental deficiencyIBA
12/2006
1Maternally Inherited Leigh SyndromeIBA
11/2006
1Mitochondrial cytopathyIBA
11/2006

Therapy/Procedure

2Cataract Extraction
10/2014 - 06/2003
2Intraocular Lenses (Intraocular Lens)
10/2014 - 06/2003
1Sutures (Suture)
10/2014
1Vitrectomy
04/2014
1Decompression
12/2006