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Journal Article
Genetic Testing and Molecular Biomarkers, ISSN 1945-0265, 02/2017, Volume 21, Issue 2, pp. 66 - 73
Aim: To test the utility of targeted sequencing as a method of clinical molecular testing in patients diagnosed with inherited retinal degeneration (IRD).... 
Molecular diagnosis | DNA testing | Inherited retinal degeneration | Retinitis pigmentosa | Retinal dystrophy | Targeted genetic testing | retinal dystrophy | ABCA4 | PHENOTYPES | molecular diagnosis | FAMILY | targeted genetic testing | CDHR1 | DISEASE | GENETICS & HEREDITY | retinitis pigmentosa | MUTATIONS | CONE | RETINITIS-PIGMENTOSA | PROBANDS | inherited retinal degeneration | PROSPECTS | Molecular Diagnostic Techniques - methods | Exons | Peripherins - genetics | Humans | Male | Chloride Channels - genetics | DNA Mutational Analysis - methods | Genetic Counseling | Genetic Testing - methods | Peripherins - metabolism | ATP-Binding Cassette Transporters - genetics | Bestrophins | Tissue Inhibitor of Metalloproteinase-3 - metabolism | ATP-Binding Cassette Transporters - metabolism | Female | Eye Proteins - genetics | Tissue Inhibitor of Metalloproteinase-3 - genetics | Genetic Association Studies | Retinitis Pigmentosa - genetics | Chloride Channels - metabolism | Retinal Dystrophies - diagnosis | Eye Proteins - metabolism | Heterozygote | Mutation | Retinal Dystrophies - genetics | Laboratories | Genes | Diagnostic tests | Retina | Tissue inhibitor of metalloproteinase 3 | Genetic screening | Gene sequencing | Heterogeneity | Next-generation sequencing | Peripheral blood | Genetic analysis | Degeneration | Diagnosis | Deoxyribonucleic acid--DNA | Pathogens | Nucleotide sequence | Base pairs | Patients | Pathogenicity | Genetic counseling | Damage detection | Retinal degeneration | Diagnostic systems
Journal Article
Investigative Ophthalmology & Visual Science, ISSN 0146-0404, 05/2019, Volume 60, Issue 6, pp. 2049 - 2063
textabstractPURPOSE. To assess the phenotypic variability and natural course of inherited retinal diseases (IRDs) caused by EYS mutations. METHODS. Multiethnic... 
retinitis pigmentosa | cone-rod dystrophy | macular dystrophy | inherited retinal disease | EYS | ORTHOLOG | RECESSIVE RETINITIS-PIGMENTOSA | IDENTIFICATION | GENE | OPHTHALMOLOGY | MUTATIONS | JAPANESE PATIENTS | PROGRESSION
Journal Article
2019, Advances in Experimental Medicine and Biology, Volume 1185, 5
During the last 20 years, our group has focused on identifying the genes and mutations causative of inherited retinal dystrophies (IRDs). By applying massive... 
MEDICINE, RESEARCH & EXPERIMENTAL | WGS | WES | Massive sequencing | Genetic diagnosis | Inherited retinal dystrophies | Target gene sequencing | Precision medicine | Whole exome sequencing | MUTATION | DISEASE | OPHTHALMOLOGY | IRD | NGS
Book Chapter
Ophthalmic Epidemiology, ISSN 0928-6586, 2/2013, Volume 20, Issue 1, pp. 13 - 25
ABSTRACT Purpose: Inherited retinal dystrophies (IRDs) and inherited optic neuropathies (IONs) are rare diseases defined by specific clinical and molecular... 
Inherited retinal dystrophies | macular dystrophy | pigmentary retinopathy | inherited optic neuropathies | molecular diagnosis | Molecular diagnosis | Pigmentary retinopathy | Inherited optic neuropathies | Macular dystrophy | VISUAL IMPAIRMENT | RECESSIVE RETINITIS-PIGMENTOSA | PREVALENCE | BLINDNESS | LEBER CONGENITAL AMAUROSIS | USHER-SYNDROME | OPHTHALMOLOGY | GENETIC-HETEROGENEITY | MUTATIONS | EPIDEMIOLOGY | Humans | Middle Aged | Optic Nerve Diseases - diagnosis | Child, Preschool | Eye Diseases, Hereditary - diagnosis | Infant | Male | Young Adult | Molecular Diagnostic Techniques | ATP-Binding Cassette Transporters - genetics | DNA Mutational Analysis | Intermediate Filament Proteins - genetics | Polymerase Chain Reaction | Aged, 80 and over | Adult | Female | Eye Proteins - genetics | Child | Peripherins | France - epidemiology | Extracellular Matrix Proteins - genetics | Myosins - genetics | Nerve Tissue Proteins - genetics | Optic Nerve Diseases - genetics | Eye Diseases, Hereditary - genetics | Membrane Glycoproteins - genetics | Retinal Dystrophies - diagnosis | Retinal Dystrophies - epidemiology | Adolescent | Aged | Mutation | Eye Diseases, Hereditary - epidemiology | Optic Nerve Diseases - epidemiology | Retinal Dystrophies - genetics | Membrane Glycoproteins/genetics | Retinal Dystrophies/genetics | France/epidemiology | Optic Nerve Diseases/genetics | Extracellular Matrix Proteins/genetics | Eye Proteins/genetics | Life Sciences | Intermediate Filament Proteins/genetics | Optic Nerve Diseases/diagnosis | Optic Nerve Diseases/epidemiology | Myosins/genetics | Retinal Dystrophies/diagnosis | Eye Diseases, Hereditary/genetics | Myosin VIIa | Nerve Tissue Proteins/genetics | ATP-Binding Cassette Transporters/genetics | Retinal Dystrophies/epidemiology | Eye Diseases, Hereditary/epidemiology | Eye Diseases, Hereditary/diagnosis
Journal Article