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Public Health Genomics and Precision Health Knowledge Base (v9.0)
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Precision Health Database|Search|Public Health Genomics and Precision Health Knowledge Base (PHGKB)
Rare Diseases
Last data update: Apr 29, 2024
. (Total: 63679 Documents since 2012)
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Records 1 - 11 (of 11 Records)
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Low disease risk and penetrance in Leber hereditary optic neuropathy.
Watson Eloise C et al. American journal of human genetics 2022
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Is the disease risk and penetrance in Leber hereditary optic neuropathy actually low?
Mackey David A et al. American journal of human genetics 2022
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Safety of Intravitreal Gene Therapy for Treatment of Subjects with Leber Hereditary Optic Neuropathy due to Mutations in the Mitochondrial ND4 Gene: The REVEAL Study.
Vignal-Clermont Catherine et al. BioDrugs : clinical immunotherapeutics, biopharmaceuticals and gene therapy 2021 Feb
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A hospital-based five-year prospective study on the prevalence of Leber's hereditary optic neuropathy with genetic confirmation.
Gowri Poigaialwar et al. Molecular vision 2020 26789-796
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Bilateral visual improvement with unilateral gene therapy injection for Leber hereditary optic neuropathy
P Yu et al, Sci Trans Med, December 9, 2020
Real-World Clinical Experience With Idebenone in the Treatment of Leber Hereditary Optic Neuropathy.
Catarino Claudia B et al. Journal of neuro-ophthalmology : the official journal of the North American Neuro-Ophthalmology Society 2020 Sep
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Long-term screening for primary mitochondrial DNA variants associated with Leber Hereditary Optic Neuropathy: incidence, penetrance and clinical features.
Marotta Rosetta et al. Mitochondrion 2020 Aug
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Mitochondrial disorders and drugs: what every physician should know.
Orsucci Daniele et al. Drugs in context 2019 8212588
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Optimization of a genotyping screening based on hydrolysis probes to detect the main mutations related to Leber hereditary optic neuropathy (LHON).
Martins Fábio Tadeu Arrojo et al. Molecular vision 2017 23495-503
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International Consensus Statement on the Clinical and Therapeutic Management of Leber's Hereditary Optic Neuropathy.
Carelli Valerio et al. Journal of neuro-ophthalmology : the official journal of the North American Neuro-Ophthalmology Society 2017 Oct
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Genetic Testing in Pediatric Ophthalmology.
Verma Ishwar Chander et al. Indian journal of pediatrics 2017 Oct
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Page last reviewed:
Feb 1, 2024
Page last updated:
Apr 29, 2024
Content source:
Public Health Genomics Branch in the Division of Blood Disorders and Public Health Genomics
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National Center on Birth Defects and Developmental Disabilities
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