Isabelle Audo Selected Research

Bestrophins

1/2019	Novel Missense Mutations in BEST1 Are Associated with Bestrophinopathies in Lebanese Patients.
7/2013	Disease-causing mutations in BEST1 gene are associated with altered sorting of bestrophin-1 protein.

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Isabelle Audo Research Topics

Disease

18	Cone-Rod Dystrophies 02/2024 - 07/2010
16	congenital stationary Night blindness 12/2022 - 10/2010
13	Retinitis Pigmentosa (Pigmentary Retinopathy) 08/2023 - 01/2012
7	Retinal Dystrophies 01/2024 - 02/2012
7	Retinal Degeneration 12/2023 - 02/2003
6	Vision Disorders (Hemeralopia) 08/2023 - 09/2007
6	Atrophy 10/2022 - 08/2015
6	Retinal Diseases 01/2022 - 01/2014
5	Macular Degeneration (Age-Related Maculopathy) 08/2023 - 07/2013
4	Leber Congenital Amaurosis 08/2023 - 10/2021
3	Night Blindness (Nyctalopia) 01/2023 - 01/2016
3	Usher Syndromes (Usher Syndrome) 12/2022 - 10/2014
3	Rare Diseases (Rare Disease) 01/2022 - 01/2013
3	Ganglion Cysts (Ganglion) 09/2021 - 01/2014
3	Inflammation (Inflammations) 03/2021 - 01/2018
3	Cataract (Cataracts) 01/2020 - 02/2015
3	Neoplasms (Cancer) 01/2019 - 09/2002
3	Retinoblastoma (Glioblastoma, Retinal) 10/2003 - 01/2002
2	Myopia 01/2023 - 01/2021
2	Disease Progression 12/2022 - 01/2018
2	Eye Diseases (Eye Disease) 01/2022 - 03/2014
2	Enhanced S-Cone Syndrome 10/2021 - 01/2019
2	Cone Dystrophy 06/2021 - 10/2014
2	Diabetic Retinopathy (Retinopathy, Diabetic) 04/2021 - 05/2011
2	Neurodegenerative Diseases (Neurodegenerative Disease) 01/2021 - 01/2018
2	Choroideremia 01/2021 - 10/2014
2	Vitelliform Macular Dystrophy 12/2019 - 10/2014
2	Telangiectasis (Telangiectasia) 12/2017 - 02/2012
2	Blindness (Hysterical Blindness) 01/2016 - 10/2014
2	Hyaloideoretinal degeneration of Wagner 11/2015 - 06/2013
1	Spinocerebellar Ataxias (Spinocerebellar Ataxia) 02/2024
1	Ataxia (Dyssynergia) 02/2024
1	Dehydration (Water Stress) 11/2022
1	Epiretinal Membrane (Epiretinal Membranes) 11/2022
1	Macular Edema 11/2022
1	Mitochondrial Diseases (Mitochondrial Disease) 10/2022
1	Low Vision (Subnormal Vision) 01/2022
1	Drowning 01/2022
1	Cortical Blindness (Anton Syndrome) 01/2022
1	Blue cone monochromatism 01/2022
1	Neuronal Ceroid-Lipofuscinoses (Neuronal Ceroid Lipofuscinosis) 01/2021
1	Optic Atrophy 01/2021
1	Immunoglobulin Light-chain Amyloidosis 02/2020
1	Ocular Paraneoplastic Syndromes 01/2020
1	Immune System Diseases (Immune Disorders) 01/2020
1	Melanoma (Melanoma, Malignant) 01/2020
1	Uveitis 01/2019
1	Bestrophinopathy 01/2019
1	Color Vision Defects (Color Blindness) 10/2018
1	Retinoschisis (Retinoschisis, Juvenile) 10/2018
1	Hearing Loss (Hearing Impairment) 12/2017
1	Hypersensitivity (Allergy) 11/2017

Drug/Important Bio-Agent (IBA)

61	Retinaldehyde (Retinal)IBA 02/2024 - 02/2003
10	Proteins (Proteins, Gene)FDA Link 01/2023 - 01/2011
4	Fluorescein (Funduscein)FDA LinkGeneric 11/2022 - 12/2017
3	Vitamin D FDA LinkGeneric 10/2003 - 01/2002
2	Biomarkers (Surrogate Marker)IBA 02/2024 - 01/2018
2	Didanosine (Videx)FDA LinkGeneric 10/2022 - 05/2022
2	RNA (Ribonucleic Acid)IBA 01/2022 - 01/2014
2	Leucine (L-Leucine)FDA Link 09/2021 - 01/2014
2	Immunoglobulins (Immunoglobulin)IBA 09/2021 - 01/2014
2	Indocyanine Green (Cardio-Green)FDA LinkGeneric 02/2020 - 01/2019
2	AutoantibodiesIBA 01/2020 - 01/2017
2	BestrophinsIBA 01/2019 - 07/2013
2	Complement System Proteins (Complement)IBA 01/2018 - 01/2016
2	L-Type Calcium Channels (Dihydropyridine Receptor)IBA 08/2014 - 03/2014
2	Calcitriol (Calcijex)FDA LinkGeneric 10/2003 - 09/2002
2	CalciumIBA 09/2002 - 01/2002
2	beta Subunit Luteinizing HormoneIBA 09/2002 - 01/2002
1	VS 261IBA 12/2022
1	RNA Precursors (Precursor, mRNA)IBA 08/2022
1	Protein Isoforms (Isoforms)IBA 06/2022
1	GTP Phosphohydrolases (GTPases)IBA 06/2022
1	Vitamin A (Retinol)FDA LinkGeneric 06/2022
1	Silicone OilsIBA 10/2021
1	Mitochondrial Proteins (Mitochondrial Protein)IBA 07/2021
1	tyrosyltubulin ligaseIBA 06/2021
1	SteroidsIBA 03/2021
1	metabotropic glutamate receptor 6IBA 01/2021
1	Glucose (Dextrose)FDA LinkGeneric 01/2020
1	CationsIBA 01/2020
1	DNA (Deoxyribonucleic Acid)IBA 11/2019
1	Phosphoric Diester Hydrolases (Phosphodiesterases)IBA 10/2018
1	c-Mer Tyrosine KinaseIBA 01/2018
1	TubulinIBA 12/2017
1	Ritonavir (Norvir)FDA Link 12/2017
1	Deoxyribonucleases (DNase)FDA Link 11/2017
1	AntigensIBA 01/2017
1	Phosphopyruvate Hydratase (Enolase)IBA 01/2017

Therapy/Procedure

8	Therapeutics 01/2023 - 10/2014
3	Activities of Daily Living (ADL) 12/2023 - 01/2023
3	Traction 11/2022 - 07/2015
2	Precision Medicine 01/2022 - 01/2020
2	Ligation 01/2021 - 10/2003
1	Lasers (Laser) 01/2023
1	Resuscitation 01/2022
1	Vitrectomy 10/2021
1	Lenses 01/2020
1	Slit Lamp 10/2019
1	Immunotherapy 01/2019