Usher Syndrome Type 3
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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 - 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) - Novel biallelic USH2A variants in a patient with usher syndrome type IIA- a case report.
Young Su Ling, et al. BMC ophthalmology 2022 0 (1) 140 - The USH1C 216G-->A mutation and the 9-repeat VNTR(t,t) allele are in complete linkage disequilibrium in the Acadian population.
Savas Sevtap, et al. Human genetics 2002 0 (1) 95-7 - Variants in CDH23 cause a broad spectrum of hearing loss: from non-syndromic to syndromic hearing loss as well as from congenital to age-related hearing loss.
Usami Shin-Ichi, et al. Human genetics 2022 0 (3-4) 903-914 - 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 3 (4) 431-437 - Identification of novel USH2A mutations in patients with autosomal recessive retinitis pigmentosa via targeted next?generation sequencing.
Zhu Xiong, et al. Molecular medicine reports 2020 4 - A combination of two truncating mutations in USH2A causes more severe and progressive hearing impairment in Usher syndrome type IIa.
Hartel Bas P, et al. Hearing research 2016 6 - Visual Prognosis in USH2A-Associated Retinitis Pigmentosa Is Worse for Patients with Usher Syndrome Type IIa Than for Those with Nonsyndromic Retinitis Pigmentosa.
Pierrache Laurence H M, et al. Ophthalmology 2016 2 - Audiometric Characteristics of a Dutch DFNA10 Family With Mid-Frequency Hearing Impairment.
van Beelen Eline, et al. Ear and hearing 2015 9 - The first USH2A mutation analysis of Japanese autosomal recessive retinitis pigmentosa patients: a totally different mutation profile with the lack of frequent mutations found in Caucasian patients.
Zhao Yang, et al. Journal of human genetics 2014 9 (9) 521-8 - Truncating variants in the majority of the cytoplasmic domain of PCDH15 are unlikely to cause Usher syndrome 1F.
Perreault-Micale Cynthia, et al. The Journal of molecular diagnostics : JMD 2014 11 (6) 673-8 - Identification of a novel CLRN1 gene mutation in Usher syndrome type 3: two case reports.
Yoshimura Hidekane, et al. The Annals of otology, rhinology, and laryngology 2015 5 94S-9S
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Selected Rare Diseases
- Alpha-1 Antitrypsin Deficiency
- Amyotrophic Lateral Sclerosis
- Brugada Syndrome
- Cerebral Palsy
- Cystic Fibrosis
- Duchenne Muscular Dystrophy
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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.
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- Page last updated:May 18, 2024
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