Usher Syndrome
What's New
Last Posted: Apr 04, 2023
- The Enigmatic Genetic Landscape of Hereditary Hearing Loss: A Multistep Diagnostic Strategy in the Italian Population.
Beatrice Spedicati et al. Biomedicines 2023 11(3) - Whole genome sequencing for USH2A-associated disease reveals several pathogenic deep-intronic variants that are amenable to splice correction.
Janine Reurink et al. HGG advances 2023 4(2) 100181 - Extended genetic diagnostics for children with profound sensorineural hearing loss by implementing massive parallel sequencing. Diagnostic outcome, family experience and clinical implementation.
Elander Johanna et al. International journal of pediatric otorhinolaryngology 2022 159111218 - Whole-Exome Sequencing Targeting a Gene Panel for Sensorineural Hearing Loss: The First Portuguese Cohort Study.
Reis Cláudia Sousa et al. Cytogenetic and genome research 2022 1-9 - Auditory and olfactory findings in patients with USH2A-related retinal degeneration-Findings at baseline from the rate of progression in USH2A-related retinal degeneration natural history study (RUSH2A).
Iannaccone Alessandro et al. American journal of medical genetics. Part A 2021 - Implementation of a registry and open access genetic testing program for inherited retinal diseases within a non-profit foundation.
Mansfield Brian C et al. American journal of medical genetics. Part C, Seminars in medical genetics 2020 Aug e31825 - Next generation sequencing using phenotype-based panels for genetic testing in inherited retinal diseases.
Shah Mital et al. Ophthalmic genetics 2020 Jun 1-7 - Establishing Genotype-phenotype Correlation in USH2A-related Disorders to Personalize Audiological Surveillance and Rehabilitation.
Molina-Ramírez Leslie P et al. Otology & neurotology : official publication of the American Otological Society, American Neurotology Society [and] European Academy of Otology and Neurotology 2020 Apr 41(4) 431-437 - Genetic Screening of the Usher Syndrome in Cuba.
Santana Elayne E et al. Frontiers in genetics 2019 10501 - Genetics of Usher Syndrome: New Insights From a Meta-analysis.
Jouret Guillaume et al. Otology & neurotology : official publication of the American Otological Society, American Neurotology Society [and] European Academy of Otology and Neurotology 2019 Jan 40(1) 121-129 - Genetic screening of Russian Usher syndrome patients toward selection for gene therapy.
Ivanova Marianna E et al. Ophthalmic genetics 2018 Oct 1-8 - Preimplantation genetic diagnosis as a strategy to prevent having a child born with an heritable eye disease.
Yahalom Claudia et al. Ophthalmic genetics 2018 May 1-7 - Delayed diagnosis of a patient with Usher syndrome 1C in a Louisiana Acadian family highlights the necessity of timely genetic testing for the diagnosis and management of congenital hearing loss.
Umrigar Ayesha et al. SAGE open medical case reports 2017 52050313X17745904 - The outcome of cochlear implantation among children with genetic syndromes.
Alzhrani Farid et al. European archives of oto-rhino-laryngology : official journal of the European Federation of Oto-Rhino-Laryngological Societies (EUFOS) : affiliated with the German Society for Oto-Rhino-Laryngology - Head and Neck Surgery 2017 Dec - Gene therapy for inherited retinal and optic nerve degenerations.
Moore Nicholas A et al. Expert opinion on biological therapy 2017 Oct 1-13 - Advances in genetic hearing loss: CIB2 gene.
Jacoszek Agnieszka et al. European archives of oto-rhino-laryngology : official journal of the European Federation of Oto-Rhino-Laryngological Societies (EUFOS) : affiliated with the German Society for Oto-Rhino-Laryngology - Head and Neck Surgery 2016 Oct - Unravelling the Complexity of Inherited Retinal Dystrophies Molecular Testing: Added Value of Targeted Next-Generation Sequencing.
Bernardis Isabella et al. BioMed research international 2016 20166341870 - Genetic testing information standardization in HL7 CDA and ISO13606.
- Usher syndrome
From NCATS Genetic and Rare Diseases Information Center - Usher syndrome type 2A
From NCATS Genetic and Rare Diseases Information Center
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Rare Disease PHGKB is an online, continuously updated, searchable database of published scientific literature, CDC and NIH resources, and other information that address the public health impact and translation of genomic and other precision health discoveries into improved health outcomes related to rare diseases...more
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Selected Rare Diseases
- Alpha-1 Antitrypsin Deficiency
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Disclaimer: Articles listed in the Public Health Knowledge Base are selected by Public Health Genomics Branch to provide current awareness of the literature and news. Inclusion in the update does not necessarily represent the views of the Centers for Disease Control and Prevention nor does it imply endorsement of the article's methods or findings. CDC and DHHS assume no responsibility for the factual accuracy of the items presented. The selection, omission, or content of items does not imply any endorsement or other position taken by CDC or DHHS. Opinion, findings and conclusions expressed by the original authors of items included in the update, or persons quoted therein, are strictly their own and are in no way meant to represent the opinion or views of CDC or DHHS. References to publications, news sources, and non-CDC Websites are provided solely for informational purposes and do not imply endorsement by CDC or DHHS.
- Page last reviewed:Feb 1, 2024
- Page last updated:May 18, 2024
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