Human Genome Epidemiology Literature Finder
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Records 1 - 27 (of 27 Records) |
| Query Trace: Hearing Loss and STRC[original query] |
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| Identification of copy number variants through whole-exome sequencing in autosomal recessive nonsyndromic hearing loss. Genetic testing and molecular biomarkers 2014 Sep 18 (9): 658-61. Bademci Guney, Diaz-Horta Oscar, Guo Shengru, Duman Duygu, Van Booven Derek, Foster Joseph, Cengiz Filiz Basak, Blanton Susan, Tekin Musta |
| Copy number variants are a common cause of non-syndromic hearing loss. Genome medicine 2014 6 (5): 37. Shearer A Eliot, Kolbe Diana L, Azaiez Hela, Sloan Christina M, Frees Kathy L, Weaver Amy E, Clark Erika T, Nishimura Carla J, Black-Ziegelbein E Ann, Smith Richard J |
| Genetic testing for sporadic hearing loss using targeted massively parallel sequencing identifies 10 novel mutations. Clinical genetics 2015 Jun 87 (6): 588-93. Gu X, Guo L, Ji H, Sun S, Chai R, Wang L, Li |
| Exome sequencing and genome-wide copy number variant mapping reveal novel associations with sensorineural hereditary hearing loss. BMC genomics 2014 15 (1): 1155. Haraksingh Rajini R, Jahanbani Fereshteh, Rodriguez-Paris Juan, Gelernter Joel, Nadeau Kari C, Oghalai John S, Schrijver Iris, Snyder Michael |
| Comprehensive genetic testing with ethnic-specific filtering by allele frequency in a Japanese hearing-loss population. Clinical genetics 2015 Sep . Moteki Hideaki, Azaiez Hela, Booth Kevin T, Shearer A Eliot, Sloan Christina M, Kolbe Diana L, Nishio Shin-Ya, Hattori Mitsuru, Usami Shin-Ichi, Smith Richard J |
| DFNB16 is a frequent cause of congenital hearing impairment: implementation of STRC mutation analysis in routine diagnostics. Clinical genetics 2015 87 (1): 49-55. Vona B, Hofrichter M A H, Neuner C, Schröder J, Gehrig A, Hennermann J B, Kraus F, Shehata-Dieler W, Klopocki E, Nanda I, Haaf |
| Combined genetic approaches yield a 48% diagnostic rate in a large cohort of French hearing-impaired patients. Scientific reports 2017 12 7 (1): 16783. Baux D, Vaché C, Blanchet C, Willems M, Baudoin C, Moclyn M, Faugère V, Touraine R, Isidor B, Dupin-Deguine D, Nizon M, Vincent M, Mercier S, Calais C, García-García G, Azher Z, Lambert L, Perdomo-Trujillo Y, Giuliano F, Claustres M, Koenig M, Mondain M, Roux A |
| STRC Deletion is a Frequent Cause of Slight to Moderate Congenital Hearing Impairment in the Czech Republic. Otology & neurotology : official publication of the American Otological Society, American Neurotology Society [and] European Academy of Otology and Neurotology 2017 10 38 (10): e393-e400. Plevova Pavlina, Paprskarova Martina, Tvrda Petra, Turska Petra, Slavkovsky Rastislav, Mrazkova E |
| STRC Gene Mutations, Mainly Large Deletions, are a Very Important Cause of Early-Onset Hereditary Hearing Loss in the Czech Population. Genetic testing and molecular biomarkers 2018 Feb 22 (2): 127-134. Marková Simona Poisson, Brožková Dana Šafka, Laššuthová Petra, Mészárosová Anna, Kr?tová Marcela, Neupauerová Jana, Rašková Dagmar, Trková Marie, Stan?k David, Seeman Pav |
| Phenotypic Characterization of DFNB16-associated Hearing Loss. Otology & neurotology : official publication of the American Otological Society, American Neurotology Society [and] European Academy of Otology and Neurotology 2018 12 40 (1): e48-e55. Back Daniela, Shehata-Dieler Wafaa, Vona Barbara, Hofrichter Michaela A H, Schroeder Joerg, Haaf Thomas, Rahne Torsten, Hagen Rudolf, Schraven Sebastian |
| Allele-Specific Droplet Digital PCR Combined with a Next-Generation Sequencing-Based Algorithm for Diagnostic Copy Number Analysis in Genes with High Homology: Proof of Concept Using Stereocilin. Clinical chemistry 2018 04 64 (4): 705-714. Amr Sami S, Murphy Elissa, Duffy Elizabeth, Niazi Rojeen, Balciuniene Jorune, Luo Minjie, Rehm Heidi L, Abou Tayoun Ahmad |
| Moderate sensorineural hearing loss is typical for DFNB16 caused by various types of mutations affecting the STRC gene. 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 2019 9 276 (12): 3353-3358. ?ada Zden?k, Šafka Brožková Dana, Balatková Zuzana, Plevová Pavlína, Rašková Dagmar, Lašt?vková Jana, ?erný Rudolf, Bandúrová Veronika, Koucký Vladimír, Hrubá Silvie, Komarc Martin, Jen?ík Ján, Poisson Marková Simona, Plzák Jan, Kluh Jan, Seeman Pav |
| Systematic Review of Hearing Loss Genes in the African American Population. Otology & neurotology : official publication of the American Otological Society, American Neurotology Society [and] European Academy of Otology and Neurotology 2019 5 40 (5): e488-e496. Worden Cameron P, Jeyakumar Ani |
| Frequency and clinical features of hearing loss caused by STRC deletions. Scientific reports 2019 Mar 9 (1): 4408. Yokota Yoh, Moteki Hideaki, Nishio Shin-Ya, Yamaguchi Tomomi, Wakui Keiko, Kobayashi Yumiko, Ohyama Kenji, Miyazaki Hiromitsu, Matsuoka Rina, Abe Satoko, Kumakawa Kozo, Takahashi Masahiro, Sakaguchi Hirofumi, Uehara Natsumi, Ishino Takashi, Kosho Tomoki, Fukushima Yoshimitsu, Usami Shin-Ic |
| Significant Mendelian genetic contribution to pediatric mild-to-moderate hearing loss and its comprehensive diagnostic approach. Genetics in medicine : official journal of the American College of Medical Genetics 2020 Mar . Kim Bong Jik, Oh Doo-Yi, Han Jin Hee, Oh Jayoung, Kim Min Young, Park Hye-Rim, Seok Jungirl, Cho Sung-Dong, Lee Sang-Yeon, Kim Yoonjoong, Carandang Marge, Kwon In Sun, Lee Seungmin, Jang Jeong Hun, Choung Yun-Hoon, Lee Sejoon, Lee Hakmin, Hwang Sang Mee, Choi Byung Yo |
| Molecular epidemiology of Chinese Han deaf patients with bi-allelic and mono-allelic GJB2 mutations. Orphanet journal of rare diseases 2020 Jan 15 (1): 29. Yu Xiaoyu, Lin Yun, Xu Jun, Che Tuanjie, Li Lin, Yang Tao, Wu H |
| Is it time to report carrier state for recessive disorders in every microarray analysis?-A pilot model based on hearing loss genes deletions. European journal of human genetics : EJHG 2021 3 29 (8): 1292-1300. Maya Idit, Basel-Salmon Lina, Sagi-Dain Le |
| Prevalence and Characteristics of STRC Gene Mutations (DFNB16): A Systematic Review and Meta-Analysis. Frontiers in genetics 2021 10 12 707845. Han Shuang, Zhang Dejun, Guo Yingyuan, Fu Zeming, Guan Guofa |
| Whole-exome sequencing identifies genetic variants of hearing loss in 113 Chinese families. Clinica chimica acta; international journal of clinical chemistry 2022 5 532 53-60. Pan Jianyan, Ma Shanshan, Teng Yanling, Liang Desheng, Li Zhuo, Wu Lingqi |
| Whole exome analysis of patients in Japan with hearing loss reveals high heterogeneity among responsible and novel candidate genes. Orphanet journal of rare diseases 2022 3 17 (1): 114. Mutai Hideki, Momozawa Yukihide, Kamatani Yoichiro, Nakano Atsuko, Sakamoto Hirokazu, Takiguchi Tetsuya, Nara Kiyomitsu, Kubo Michiaki, Matsunaga Tats |
| Audiological Evidence of Frequent Hereditary Mild, Moderate and Moderate-to-Severe Hearing Loss. Journal of personalized medicine 2022 12 12 (11): . Markova Tatiana, Alekseeva Natalia, Lalayants Maria, Ryzhkova Oxana, Shatokhina Olga, Galeeva Nailya, Bliznetz Elena, Belov Oleg, Chibisova Svetlana, Polyakov Alexander, Tavartkiladze Geor |
| Spectrum of Genes for Non-GJB2-Related Non-Syndromic Hearing Loss in the Russian Population Revealed by a Targeted Deafness Gene Panel. International journal of molecular sciences 2022 12 23 (24): . Shatokhina Olga, Galeeva Nailya, Stepanova Anna, Markova Tatiana, Lalayants Maria, Alekseeva Natalia, Tavarkiladze George, Markova Tatiana, Bessonova Liudmila, Petukhova Marina, Guseva Daria, Anisimova Inga, Polyakov Alexander, Ryzhkova Oxana, Bliznetz Ele |
| Molecular etiology study of hearing loss in 13 Chinese Han families. Frontiers in neurology 2022 12 13 1048218. Sun Lianhua, Lin Zhengyu, Wang Xiaowen, Shen Jiali, Li Yue, Huang Yuyu, Yang J |
| De novo variants are a common cause of genetic hearing loss. Genetics in medicine : official journal of the American College of Medical Genetics 2022 Oct . Klimara Miles J, Nishimura Carla, Wang Donghong, Kolbe Diana L, Schaefer Amanda M, Walls William D, Frees Kathy L, Smith Richard J H, Azaiez He |
| Frequency of the STRC-CATSPER2 deletion in STRC-associated hearing loss patients. Scientific reports 2022 1 12 (1): 634. Nishio Shin-Ya, Usami Shin-Ic |
| Novel Pathogenic Variants in the Gene Encoding Stereocilin (STRC) Causing Non-Syndromic Moderate Hearing Loss in Spanish and Argentinean Subjects. Biomedicines 2023 11 11 (11): . María Domínguez-Ruiz, Laura Ruiz-Palmero, Paula I Buonfiglio, Irene García-Vaquero, Elena Gómez-Rosas, Marina Goñi, Manuela Villamar, Matías Morín, Miguel A Moreno-Pelayo, Ana B Elgoyhen, Francisco J Del Castillo, Viviana Dalamón, Ignacio Del Castil |
| Negative Molecular Diagnostics in Non-Syndromic Hearing Loss: What Next? Genes 2023 1 14 (1): . Clabout Thomas, Maes Laurence, Acke Frederic, Wuyts Wim, Van Schil Kristof, Coucke Paul, Janssens Sandra, De Leenheer E |
- Page last reviewed:Oct 1, 2023
- Page last updated:Dec 04, 2023
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