Human Genome Epidemiology Literature Finder
Rare Diseases
Records 1 - 30 (of 76 Records) |
Query Trace: Usher Syndrome[original query] |
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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 |
Frequency of Usher gene mutations in non-syndromic hearing loss: higher variability of the Usher phenotype. Journal of human genetics 2020 May . Cesca Federica, Bettella Elisa, Polli Roberta, Leonardi Emanuela, Aspromonte Maria Cristina, Sicilian Barbara, Stanzial Franco, Benedicenti Francesco, Sensi Alberto, Ciorba Andrea, Bigoni Stefania, Cama Elona, Scimemi Pietro, Santarelli Rosamaria, Murgia Alessand |
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 |
Truncating Variants Contribute to Hearing Loss and Severe Retinopathy in USH2A-Associated Retinitis Pigmentosa in Japanese Patients. International journal of molecular sciences 2020 10 21 (21): . Inaba Akira, Maeda Akiko, Yoshida Akiko, Kawai Kanako, Hirami Yasuhiko, Kurimoto Yasuo, Kosugi Shinji, Takahashi Masa |
Next Generation Sequencing Identifies Five Novel Mutations in Lebanese Patients with Bardet-Biedl and Usher Syndromes. Genes 2020 1 10 (12): . Jaffal Lama, Joumaa Wissam H, Assi Alexandre, Helou Charles, Cherfan George, Zibara Kazem, Audo Isabelle, Zeitz Christina, El Shamieh Sa |
Novel pathogenic mutations and further evidence for clinical relevance of genes and variants causing hearing impairment in Tunisian population. Journal of advanced research 2021 7 31 13-24. Souissi Amal, Ben Said Mariem, Ben Ayed Ikhlas, Elloumi Ines, Bouzid Amal, Mosrati Mohamed Ali, Hasnaoui Mehdi, Belcadhi Malek, Idriss Nabil, Kamoun Hassen, Gharbi Nourhene, Gibriel Abdullah A, Tlili Abdelaziz, Masmoudi Sab |
USH2A gene variants cause Keratoconus and Usher syndrome phenotypes in Pakistani families. BMC ophthalmology 2021 4 21 (1): 191. Ahmed Asif Naveed, Tahir Raheel, Khan Niamat, Ahmad Mushtaq, Dawood Muhammad, Basit Abdul, Yasin Muhammad, Nowshid Maha, Marwan Muhammad, Sultan Komal, Saleha Sham |
Whole-exome sequencing in 168 Korean patients with inherited retinal degeneration. BMC medical genomics 2021 3 14 (1): 74. Ma Dae Joong, Lee Hyun-Seob, Kim Kwangsoo, Choi Seongmin, Jang Insoon, Cho Seo-Ho, Yoon Chang Ki, Lee Eun Kyoung, Yu Hyeong G |
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 |
Genotype-phenotype correlation in patients with Usher syndrome and pathogenic variants in MYO7A: implications for future clinical trials. Acta ophthalmologica 2021 2 99 (8): 922-930. Galbis-Martínez Lilián, Blanco-Kelly Fiona, García-García Gema, Ávila-Fernández Almudena, Jaijo Teresa, Fuster-García Carla, Perea-Romero Irene, Zurita-Muñoz Olga, Jimenez-Rolando Belén, Carreño Ester, García-Sandoval Blanca, Millán José M, Ayuso Carm |
The Study of a 231 French Patient Cohort Significantly Extends the Mutational Spectrum of the Two Major Usher Genes MYO7A and USH2A. International journal of molecular sciences 2021 12 22 (24): . Mansard Luke, Baux David, Vaché Christel, Blanchet Catherine, Meunier Isabelle, Willems Marjolaine, Faugère Valérie, Baudoin Corinne, Moclyn Melody, Bianchi Julie, Dollfus Helene, Gilbert-Dussardier Brigitte, Dupin-Deguine Delphine, Bonneau Dominique, Drumare Isabelle, Odent Sylvie, Zanlonghi Xavier, Claustres Mireille, Koenig Michel, Kalatzis Vasiliki, Roux Anne-Françoi |
Genomic analysis of childhood hearing loss in the Yoruba population of Nigeria. European journal of human genetics : EJHG 2021 Nov . Adeyemo Adebolajo, Faridi Rabia, Chattaraj Parna, Yousaf Rizwan, Tona Risa, Okorie Samuel, Bharadwaj Thashi, Nouel-Saied Liz M, Acharya Anushree, Schrauwen Isabelle, Morell Robert J, Leal Suzanne M, Friedman Thomas B, Griffith Andrew J, Roux Isabel |
Genetic Characteristics and Variation Spectrum of USH2A-Related Retinitis Pigmentosa and Usher Syndrome. Frontiers in genetics 2022 9 13 900548. Li Wei, Jiang Xiao-Sen, Han Dong-Ming, Gao Jia-Yu, Yang Zheng-Tao, Jiang Li, Zhang Qian, Zhang Sheng-Hai, Gao Ya, Wu Ji-Hong, Li Jian-Ka |
Global spectrum of USH2A mutation in inherited retinal dystrophies: Prompt message for development of base editing therapy. Frontiers in aging neuroscience 2022 8 14 948279. Su Bing-Nan, Shen Ren-Juan, Liu Zhuo-Lin, Li Yang, Jin Zi-Bi |
Phenotypic and Genetic Characteristics in a Cohort of Patients with Usher Genes. Genes 2022 8 13 (8): . Feenstra Helena M, Al-Khuzaei Saoud, Shah Mital, Broadgate Suzanne, Shanks Morag, Kamath Archith, Yu Jing, Jolly Jasleen K, MacLaren Robert E, Clouston Penny, Halford Stephanie, Downes Susan |
A Genotype-Phenotype Analysis of Usher Syndrome in Puerto Rico: A Case Series. Cureus 2022 8 14 (8): e28213. Santos David F, Molina Thurin Leonardo J, Gustavo Vargas José, Izquierdo Natalio J, Oliver Arman |
Extended genetic diagnostics for children with profound sensorineural hearing loss by implementing massive parallel sequencing. Diagnostic outcome, family experience and clinical implementation. International journal of pediatric otorhinolaryngology 2022 7 159 111218. Elander Johanna, Ullmark Tove, Ehrencrona Hans, Jonson Tord, Piccinelli Paul, Samuelsson Sofie, Löwgren Karolina, Falkenius-Schmidt Karolina, Ehinger Johannes, Stenfeldt Karin, Värendh Mar |
ADGRV1 Variants in Febrile Seizures/Epilepsy With Antecedent Febrile Seizures and Their Associations With Audio-Visual Abnormalities. Frontiers in molecular neuroscience 2022 7 15 864074. Zhou Peng, Meng Heng, Liang Xiaoyu, Lei Xiaoyun, Zhang Jingwen, Bian Wenjun, He Na, Lin Zhijian, Song Xingwang, Zhu Weiwen, Hu Bin, Li Bingmei, Yan Limin, Tang Bin, Su Tao, Liu Hankui, Mao Yong, Zhai Qiongxiang, Yi Yongho |
Novel Missense and Splice Site Mutations in USH2A, CDH23, PCDH15, and ADGRV1 Are Associated With Usher Syndrome in Lebanon. Frontiers in genetics 2022 6 13 864228. Jaffal Lama, Akhdar Hanane, Joumaa Hawraa, Ibrahim Mariam, Chhouri Zahraa, Assi Alexandre, Helou Charles, Lee Hane, Seo Go Hun, Joumaa Wissam H, El Shamieh Sa |
Whole-Exome Sequencing Targeting a Gene Panel for Sensorineural Hearing Loss: The First Portuguese Cohort Study. Cytogenetic and genome research 2022 5 162 (1-2): 1-9. Reis Cláudia Sousa, Quental Sofia, Fernandes Susana, Castedo Sérgio, Moura Carla Pin |
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 |
[Hearing loss due to mutations in the genes responsible for Usher syndrome]. Vestnik otorinolaringologii 2022 3 87 (1): 52-59. Markova T G, Alekseeva N N, Belov O A, Chugunova T I, Tsygankova E |
Tissue-specific genotype-phenotype correlations among USH2A-related disorders in the RUSH2A study. Human mutation 2022 3 43 (5): 613-624. Hufnagel Robert B, Liang Wendi, Duncan Jacque L, Brewer Carmen C, Audo Isabelle, Ayala Allison R, Branham Kari, Cheetham Janet K, Daiger Stephen P, Durham Todd A, Guan Bin, Heon Elise, Hoyng Carel B, Iannaccone Alessandro, Kay Christine N, Michaelides Michel, Pennesi Mark E, Singh Mandeep S, Ullah Ehsan, |
Custom Next-Generation Sequencing Identifies Novel Mutations Expanding the Molecular and clinical spectrum of isolated Hearing Impairment or along with defects of the retina, the thyroid, and the kidneys. Molecular genetics & genomic medicine 2022 1 10 (2): e1868. Said Mariem Ben, Ayed Ikhlas Ben, Elloumi Ines, Hasnaoui Mehdi, Souissi Amal, Idriss Nabil, Aloulou Hajer, Chabchoub Imen, Maâlej Bayen, Driss Dorra, Masmoudi Sab |
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 |
- Page last reviewed:Feb 1, 2024
- Page last updated:May 13, 2024
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