Human Genome Epidemiology Literature Finder
Rare Diseases
Records 1 - 29 (of 29 Records) |
Query Trace: Usher Syndrome Type 3[original query] |
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The USH1C 216G-->A mutation and the 9-repeat VNTR(t,t) allele are in complete linkage disequilibrium in the Acadian population. Human genetics 2002 1 110 (1): 95-7. Savas Sevtap, Frischhertz Ben, Pelias Mary Z, Batzer Mark A, Deininger Prescott L, Keats Bronya |
Comprehensive screening of the USH2A gene in Usher syndrome type II and non-syndromic recessive retinitis pigmentosa. Experimental eye research 2004 Aug 79 (2): 167-73. Seyedahmadi Babak Jian, Rivolta Carlo, Keene Julia A, Berson Eliot L, Dryja Thaddeus |
The R245X mutation of PCDH15 in Ashkenazi Jewish children diagnosed with nonsyndromic hearing loss foreshadows retinitis pigmentosa. Pediatric research 2004 Jun 55 (6): 995-1000. Brownstein Zippora, Ben-Yosef Tamar, Dagan Orit, Frydman Moshe, Abeliovich Dvorah, Sagi Michal, Abraham Fabian A, Taitelbaum-Swead Riki, Shohat Mordechai, Hildesheimer Minka, Friedman Thomas B, Avraham Karen |
Protocadherin-21 (PCDH21), a candidate gene for human retinal dystrophies. Molecular vision 2005 11 (): 929-33. Bolz Hanno, Ebermann Inga, Gal Andre |
Characterization of Usher syndrome type I gene mutations in an Usher syndrome patient population. Human genetics 2005 Mar 116 (4): 292-9. Ouyang Xiao Mei, Yan Denise, Du Li Lin, Hejtmancik J Fielding, Jacobson Samuel G, Nance Walter E, Li An Ren, Angeli Simon, Kaiser Muriel, Newton Valerie, Brown Steve D M, Balkany Thomas, Liu Xue Zho |
Screening of the USH1G gene among Spanish patients with Usher syndrome. Lack of mutations and evidence of a minor role in the pathogenesis of the syndrome. Ophthalmic genetics 2007 Sep 28 (3): 151-5. Aller Elena, Jaijo Teresa, Beneyto Magdalena, Nájera Carmen, Morera Constantino, Pérez-Garrigues Herminio, Ayuso Carmen, Millán Jo |
Disease course in patients with autosomal recessive retinitis pigmentosa due to the USH2A gene. Investigative ophthalmology & visual science 2008 Dec 49 (12): 5532-9. Sandberg Michael A, Rosner Bernard, Weigel-DiFranco Carol, McGee Terri L, Dryja Thaddeus P, Berson Eliot |
Four USH2A founder mutations underlie the majority of Usher syndrome type 2 cases among non-Ashkenazi Jews. Genetic testing 2008 Jun 12 (2): 289-94. Auslender Noa, Bandah Dikla, Rizel Leah, Behar Doron M, Shohat Mordechai, Banin Eyal, Allon-Shalev Stavit, Sharony Reuven, Sharon Dror, Ben-Yosef Tam |
Sequence variants of the DFNB31 gene among Usher syndrome patients of diverse origin. Molecular vision 2010 16 495-500. Aller Elena, Jaijo Teresa, van Wijk Erwin, Ebermann Inga, Kersten Ferry, García-García Gema, Voesenek Krysta, Aparisi María José, Hoefsloot Lies, Cremers Cor, Díaz-Llopis Manuel, Pennings Ronald, Bolz Hanno J, Kremer Hannie, Millán José |
Novel mutations in the USH1C gene in Usher syndrome patients. Molecular vision 2010 16 2948-54. Aparisi María José, García-García Gema, Jaijo Teresa, Rodrigo Regina, Graziano Claudio, Seri Marco, Simsek Tulay, Simsek Enver, Bernal Sara, Baiget Montserrat, Pérez-Garrigues Herminio, Aller Elena, Millán José Mar |
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. Journal of human genetics 2014 Sep 59 (9): 521-8. Zhao Yang, Hosono Katsuhiro, Suto Kimiko, Ishigami Chie, Arai Yuuki, Hikoya Akiko, Hirami Yasuhiko, Ohtsubo Masafumi, Ueno Shinji, Terasaki Hiroko, Sato Miho, Nakanishi Hiroshi, Endo Shiori, Mizuta Kunihiro, Mineta Hiroyuki, Kondo Mineo, Takahashi Masayo, Minoshima Shinsei, Hotta Yoshihi |
Truncating variants in the majority of the cytoplasmic domain of PCDH15 are unlikely to cause Usher syndrome 1F. The Journal of molecular diagnostics : JMD 2014 Nov 16 (6): 673-8. Perreault-Micale Cynthia, Frieden Alexander, Kennedy Caleb J, Neitzel Dana, Sullivan Jessica, Faulkner Nicole, Hallam Stephanie, Greger Valer |
Audiometric Characteristics of a Dutch DFNA10 Family With Mid-Frequency Hearing Impairment. Ear and hearing 2015 Sep . van Beelen Eline, Oonk Anne M M, Leijendeckers Joop M, Hoefsloot Elisabeth H, Pennings Ronald J E, Feenstra Ilse, Dieker Hendrik-Jan, Huygen Patrick L M, Snik Ad F M, Kremer Hannie, Kunst Henricus P |
Identification of a novel CLRN1 gene mutation in Usher syndrome type 3: two case reports. The Annals of otology, rhinology, and laryngology 2015 May 124 Suppl 1 94S-9S. Yoshimura Hidekane, Oshikawa Chie, Nakayama Jun, Moteki Hideaki, Usami Shin-Ic |
A combination of two truncating mutations in USH2A causes more severe and progressive hearing impairment in Usher syndrome type IIa. Hearing research 2016 Jun . Hartel Bas P, Löfgren Maria, Huygen Patrick L M, Guchelaar Iris, Lo-A-Njoe Kort Nicole, Sadeghi Andre M, van Wijk Erwin, Tranebjærg Lisbeth, Kremer Hannie, Kimberling William J, Cremers Cor W R J, Möller Claes, Pennings Ronald J |
Visual Prognosis in USH2A-Associated Retinitis Pigmentosa Is Worse for Patients with Usher Syndrome Type IIa Than for Those with Nonsyndromic Retinitis Pigmentosa. Ophthalmology 2016 Feb . Pierrache Laurence H M, Hartel Bas P, van Wijk Erwin, Meester-Smoor Magda A, Cremers Frans P M, de Baere Elfride, de Zaeytijd Julie, van Schooneveld Mary J, Cremers Cor W R J, Dagnelie Gislin, Hoyng Carel B, Bergen Arthur A, Leroy Bart P, Pennings Ronald J E, van den Born L Ingeborgh, Klaver Caroline C |
Genetic analysis of a Chinese family with members affected with Usher syndrome type II and Waardenburg syndrome type IV. International journal of pediatric otorhinolaryngology 2017 11 102 114-118. Wang Xueling, Lin Xiao-Jiang, Tang Xiangrong, Chai Yong-Chuan, Yu De-Hong, Chen Dong-Ye, Wu H |
PHENOTYPIC CHARACTERISTICS OF ROD-CONE DYSTROPHY ASSOCIATED WITH MYO7A MUTATIONS IN A LARGE FRENCH COHORT. Retina (Philadelphia, Pa.) 2019 9 40 (8): 1603-1615. Khateb Samer, Mohand-Saïd Saddek, Nassisi Marco, Bonnet Crystel, Roux Anne-Françoise, Andrieu Camille, Antonio Aline, Condroyer Christel, Zeitz Christina, Devisme Céline, Loundon Natalie, Marlin Sandrine, Petit Christine, Bodaghi Bahram, Sahel José-Alain, Audo Isabel |
Identification of a Potential Founder Effect of a Novel PDZD7 Variant Involved in Moderate-to-Severe Sensorineural Hearing Loss in Koreans. International journal of molecular sciences 2019 8 20 (17): . Lee Sang-Yeon, Han Jin Hee, Kim Bong Jik, Oh Seung Ha, Lee Seungmin, Oh Doo-Yi, Choi Byung Yo |
USH2A variants in Chinese patients with Usher syndrome type II and non-syndromic retinitis pigmentosa. The British journal of ophthalmology 2020 7 105 (5): 694-703. Zhu Tian, Chen De-Fu, Wang Lei, Wu Shijing, Wei Xing, Li Hui, Jin Zi-Bing, Sui Ruifa |
Identification of novel USH2A mutations in patients with autosomal recessive retinitis pigmentosa via targeted next?generation sequencing. Molecular medicine reports 2020 Apr . Zhu Xiong, Li Xiao, Tian Wanli, Yang Yeming, Sun Kuanxiang, Li Shuzhen, Zhu Xianj |
Establishing Genotype-phenotype Correlation in USH2A-related Disorders to Personalize Audiological Surveillance and Rehabilitation. Otology & neurotology : official publication of the American Otological Society, American Neurotology Society [and] European Academy of Otology and Neurotology 2020 (4): 431-437. Molina-Ramírez Leslie P, Lenassi Eva, Ellingford Jamie M, Sergouniotis Panagiotis I, Ramsden Simon C, Bruce Iain A, Black Graeme C |
Mutation screening of the USH2A gene reveals two novel pathogenic variants in Chinese patients causing simplex usher syndrome 2. BMC ophthalmology 2020 2 20 (1): 70. He Chenhao, Liu Xinyu, Zhong Zilin, Chen Jianj |
USH2A-Related Retinitis Pigmentosa: Staging of Disease Severity and Morpho-Functional Studies. Diagnostics (Basel, Switzerland) 2021 2 11 (2): . Falsini Benedetto, Placidi Giorgio, De Siena Elisa, Savastano Maria Cristina, Minnella Angelo Maria, Maceroni Martina, Midena Giulia, Ziccardi Lucia, Parisi Vincenzo, Bertelli Matteo, Maltese Paolo Enrico, Chiurazzi Pietro, Rizzo Stanisl |
Novel biallelic USH2A variants in a patient with usher syndrome type IIA- a case report. BMC ophthalmology 2022 3 22 (1): 140. Young Su Ling, Stanton Chloe M, Livesey Benjamin J, Marsh Joseph A, Cackett Peter |
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. Human genetics 2022 1 141 (3-4): 903-914. Usami Shin-Ichi, Isaka Yuichi, Miyagawa Maiko, Nishio Shin- |
USH2A mutational spectrum causing syndromic and non-syndromic retinal dystrophies in a large cohort of Mexican patients. Molecular vision 2023 6 29 31-38. Vianey Ordoñez-Labastida, Oscar F Chacon-Camacho, Victor R Lopez-Rodriguez, Juan C Zente |
USH2A mutation and specific driver mutation subtypes are associated with clinical efficacy of immune checkpoint inhibitors in lung cancer. Journal of Zhejiang University. Science. B 2023 2 24 (2): 143-156. Yang Dexin, Feng Yuqin, Lu Haohua, Chen Kelie, Xu Jinming, Li Peiwei, Wang Tianru, Xia Dajing, Wu Yih |
Allelic hierarchy for USH2A influences auditory and visual phenotypes in South Korean patients. Scientific reports 2023 11 13 (1): 20239. Dong Woo Nam, Yong Keun Song, Jeong Hun Kim, Eun Kyoung Lee, Kyu Hyung Park, JuHyuen Cha, Byung Yoon Choi, Jun Ho Lee, Seung Ha Oh, Dong Hyun Jo, Sang-Yeon L |
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- Page last updated:May 13, 2024
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