Usher Syndrome, Type 1
What's New
Last Posted: Nov 27, 2023
- Allelic hierarchy for USH2A influences auditory and visual phenotypes in South Korean patients.
Dong Woo Nam, et al. Scientific reports 2023 0 (1) 20239 - USH2A mutational spectrum causing syndromic and non-syndromic retinal dystrophies in a large cohort of Mexican patients.
Vianey Ordoñez-Labastida, et al. Molecular vision 2023 0 31-38 - The Enigmatic Genetic Landscape of Hereditary Hearing Loss: A Multistep Diagnostic Strategy in the Italian Population.
Beatrice Spedicati et al. Biomedicines 2023 11(3) - USH2A mutation and specific driver mutation subtypes are associated with clinical efficacy of immune checkpoint inhibitors in lung cancer.
Yang Dexin, et al. Journal of Zhejiang University. Science. B 2023 0 (2) 143-156 - Genetic analysis of a Chinese family with members affected with Usher syndrome type II and Waardenburg syndrome type IV.
Wang Xueling, et al. International journal of pediatric otorhinolaryngology 2017 0 114-118 - Identification of a Potential Founder Effect of a Novel PDZD7 Variant Involved in Moderate-to-Severe Sensorineural Hearing Loss in Koreans.
Lee Sang-Yeon, et al. International journal of molecular sciences 2019 0 (17) - PHENOTYPIC CHARACTERISTICS OF ROD-CONE DYSTROPHY ASSOCIATED WITH MYO7A MUTATIONS IN A LARGE FRENCH COHORT.
Khateb Samer, et al. Retina (Philadelphia, Pa.) 2019 0 (8) 1603-1615 - USH2A variants in Chinese patients with Usher syndrome type II and non-syndromic retinitis pigmentosa.
Zhu Tian, et al. The British journal of ophthalmology 2020 0 (5) 694-703 - Mutation screening of the USH2A gene reveals two novel pathogenic variants in Chinese patients causing simplex usher syndrome 2.
He Chenhao, et al. BMC ophthalmology 2020 0 (1) 70 - USH2A-Related Retinitis Pigmentosa: Staging of Disease Severity and Morpho-Functional Studies.
Falsini Benedetto, et al. Diagnostics (Basel, Switzerland) 2021 0 (2)
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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
Content Summary
Selected Rare Diseases
- Alpha-1 Antitrypsin Deficiency
- Amyotrophic Lateral Sclerosis
- Brugada Syndrome
- Cerebral Palsy
- Cystic Fibrosis
- Duchenne Muscular Dystrophy
- Eclampsia
- Erythema Multiforme
- Familial Mediterranean Fever
- Fragile X Syndrome
- Gaucher Disease
- Glomerulonephritis
- Graves Disease
- Hemophilia
- Huntington Disease
- Microcephaly
- Myasthenia Gravis
- Phenylketonuria
- Retinitis Pigmentosa
- Severe Combined Immunodeficiency
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 03, 2024
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