Jean-Michel Rozet Selected Research

congenital stationary Night blindness

12/2022	Association of Missense Variants in VSX2 With a Peculiar Form of Congenital Stationary Night Blindness Affecting All Bipolar Cells.
1/2020	Loss of Function of RIMS2 Causes a Syndromic Congenital Cone-Rod Synaptic Disease with Neurodevelopmental and Pancreatic Involvement.
1/2019	Genetic Deciphering of Early-Onset and Severe Retinal Dystrophy Associated with Sensorineural Hearing Loss.

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Jean-Michel Rozet Research Topics

Disease

6	Ciliopathies 04/2024 - 10/2009
5	Optic Nerve Diseases (Optic Neuropathy) 01/2017 - 04/2009
3	congenital stationary Night blindness 12/2022 - 01/2019
3	Retinal Dystrophies 01/2019 - 01/2013
3	Retinitis Pigmentosa (Pigmentary Retinopathy) 01/2013 - 02/2005
3	Leber Congenital Amaurosis 12/2007 - 10/2004
2	Mitochondrial Diseases (Mitochondrial Disease) 01/2021 - 04/2009
2	Blindness (Hysterical Blindness) 01/2021 - 01/2013
2	Macular Degeneration (Age-Related Maculopathy) 04/2020 - 07/2010
2	Retinal Diseases 01/2019 - 01/2016
2	Optic Atrophy 01/2018 - 04/2009
1	Leber Hereditary Optic Atrophy (Leber's Hereditary Optic Neuropathy) 01/2021
1	Enhanced S-Cone Syndrome 01/2019
1	Autosomal Recessive 16 Deafness 01/2019
1	Deafness (Deaf Mutism) 01/2019
1	Dental Enamel Hypoplasia 01/2019
1	Intellectual Disability (Idiocy) 01/2018
1	Hearing Loss (Hearing Impairment) 12/2017
1	Ganglion Cysts (Ganglion) 10/2017
1	Neoplasms (Cancer) 01/2016
1	Hypercholesterolemia 01/2016
1	Duchenne Muscular Dystrophy (Muscular Dystrophy, Becker) 01/2016
1	Rare Diseases (Rare Disease) 01/2013
1	Ocular Hypertension (Glaucoma, Suspect) 01/2013
1	Spastic Paraparesis 10/2012
1	Atrophy 10/2012
1	Choroidal Neovascularization 12/2009
1	Cone-Rod Dystrophies 02/2005
1	Hyperopia (Hypermetropia) 02/2005

Drug/Important Bio-Agent (IBA)

5	Retinaldehyde (Retinal)IBA 12/2022 - 02/2005
5	Proteins (Proteins, Gene)FDA Link 10/2020 - 12/2007
2	TubulinIBA 04/2024 - 12/2017
2	Mitochondrial DNA (mtDNA)IBA 01/2021 - 01/2017
2	Mitochondrial Proteins (Mitochondrial Protein)IBA 01/2021 - 04/2009
1	Malonyl Coenzyme A (Malonyl CoA)IBA 01/2021
1	Acyl Carrier ProteinIBA 01/2021
1	Fatty Acids (Saturated Fatty Acids)IBA 01/2021
1	Vascular Endothelial Growth Factor A (Vascular Endothelial Growth Factor)IBA 04/2020
1	Glucose (Dextrose)FDA LinkGeneric 01/2020
1	Indocyanine Green (Cardio-Green)FDA LinkGeneric 01/2019
1	BESIBA 01/2019
1	nasIBA 01/2019
1	Fluorescein (Funduscein)FDA LinkGeneric 01/2019
1	Lactic Acid (Lactate)FDA LinkGeneric 01/2018
1	Amino Acids FDA Link 01/2018
1	Carisoprodol (Soma)FDA LinkGeneric 10/2017
1	EnzymesIBA 01/2017
1	RNA Precursors (Precursor, mRNA)IBA 01/2016
1	Antisense OligonucleotidesIBA 01/2016
1	Oxidoreductases (Dehydrogenase)IBA 11/2015
1	ubiquinolIBA 11/2015
1	Mutant Proteins (Protein, Mutant)IBA 06/2015
1	IonsIBA 01/2013
1	Biomarkers (Surrogate Marker)IBA 10/2012
1	Complement System Proteins (Complement)IBA 07/2010
1	Complement Factor H (Factor H)IBA 07/2010
1	Ranibizumab (Lucentis)FDA Link 12/2009
1	GTP Phosphohydrolases (GTPases)IBA 01/2007
1	Guanylate Cyclase (Guanylyl Cyclase)IBA 02/2005
1	Retinal DehydrogenaseIBA 10/2004

Therapy/Procedure

2	Therapeutics 04/2020 - 01/2016
1	Dental Prosthesis 01/2019
1	Surgical Amputation (Amputations) 01/2013
1	Ligation 10/2012
1	Light Coagulation 12/2009
1	Photochemotherapy (Photodynamic Therapy) 12/2009