Human Genome Epidemiology Literature Finder
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Records 1 - 30 (of 120 Records) |
| Query Trace: Hearing Loss and GJB6[original query] |
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| Genetic Basis of Nonsyndromic Sensorineural Hearing Loss in the Sub-Saharan African Island Population of São Tomé and Príncipe: The Role of the DFNB1 Locus? Omics : a journal of integrative biology 2016 Aug 20 (8): 449-55. Caroça Cristina, de Matos Tiago Morim, Ribeiro Diogo, Lourenço Vera, Martins Tânia, Campelo Paula, Fialho Graça, Silva Susana Nunes, Paço João, Caria Hele |
| Evaluation of electrocardiographic parameters in patients with hearing loss genotyped for the connexin 26 gene (GJB2) mutations. Brazilian journal of otorhinolaryngology 2016 Apr . Sanecka Agnieszka, Biernacka Elzbieta Katarzyna, Sosna Magdalena, Mueller-Malesinska Malgorzata, Ploski Rafal, Skarzynski Henryk, Piotrowicz Rysza |
| The high frequency of GJB2 gene mutation c.313_326del14 suggests its possible origin in ancestors of Lithuanian population. BMC genetics 2016 17 (1): 45. Mikstiene Violeta, Jakaitiene Audrone, Byckova Jekaterina, Gradauskiene Egle, Preiksaitiene Egle, Burnyte Birute, Tumiene Birute, Matuleviciene Ausra, Ambrozaityte Laima, Uktveryte Ingrida, Domarkiene Ingrida, Rancelis Tautvydas, Cimbalistiene Loreta, Lesinskas Eugenijus, Kucinskas Vaidutis, Utkus Algird |
| Association of nuclear and mitochondrial genes with audiological examinations in Iranian patients with nonaminoglycoside antibiotics-induced hearing loss. Therapeutics and clinical risk management 2016 12 117-28. Balali Maryam, Kamalidehghan Behnam, Farhadi Mohammad, Ahmadipour Fatemeh, Ashkezari Mahmoud Dehghani, Hemami Mohsen Rezaei, Arabzadeh Hossein, Falah Masoumeh, Meng Goh Yong, Houshmand Masso |
| First report of prevalence c.IVS1+1G>A and del (GJB6-13S1854) mutations in Syrian families with non-syndromic sensorineural hearing loss. International journal of pediatric otorhinolaryngology 2017 Jan 92 82-87. Al-Achkar Walid, Al-Halabi Bassel, Ali Bashar, Moassass Fat |
| Update of the GJB2/DFNB1 mutation spectrum in Russia: a founder Ingush mutation del(GJB2-D13S175) is the most frequent among other large deletions. Journal of human genetics 2017 Apr . Bliznetz Elena A, Lalayants Maria R, Markova Tatiana G, Balanovsky Oleg P, Balanovska Elena V, Skhalyakho Roza A, Pocheshkhova Elvira A, Nikitina Natalya V, Voronin Sergey V, Kudryashova Elena K, Glotov Oleg S, Polyakov Alexander |
| Screening of deafness-causing DNA variants that are common in patients of European ancestry using a microarray-based approach. PloS one 2017 12 (3): e0169219. Yan Denise, Xiang Guangxin, Chai Xingping, Qing Jie, Shang Haiqiong, Zou Bing, Mittal Rahul, Shen Jun, Smith Richard J H, Fan Yao-Shan, Blanton Susan H, Tekin Mustafa, Morton Cynthia, Xing Wanli, Cheng Jing, Liu Xue Zho |
| Recurrence of reported CDH23 mutations causing DFNB12 in a special cohort of South Indian hearing impaired assortative mating families - an evaluation. Annals of human genetics 2017 Nov . Vanniya S Paridhy, Chandru Jayasankaran, Pavithra Amritkumar, Jeffrey Justin Margret, Kalaimathi Murugesan, Ramakrishnan Rajagopalan, Karthikeyen Natarajan P, C R Srikumari Srisailapat |
| Contribution of SLC26A4 to the molecular diagnosis of nonsyndromic prelingual sensorineural hearing loss in a Brazilian cohort. BMC research notes 2018 Aug 11 (1): 546. Carvalho Simone da Costa E Silva, Grangeiro Carlos Henrique Paiva, Picanço-Albuquerque Clarissa Gondim, Dos Anjos Thaís Oliveira, De Molfetta Greice Andreotti, Silva Wilson Araujo, Ferraz Victor Evangelista de Far |
| GJB3/GJB6 screening in GJB2 carriers with idiopathic hearing loss: Is it necessary? Journal of clinical laboratory analysis 2018 Jun e22592. Chen Kaitian, Wu Xuan, Zong Ling, Jiang Hongy |
| GJB2 mutations causing autosomal recessive non-syndromic hearing loss (ARNSHL) in two Iranian populations: Report of two novel variants. International journal of pediatric otorhinolaryngology 2018 Apr 107 121-126. Koohiyan Mahbobeh, Hashemzadeh-Chaleshtori Morteza, Salehi Mansoor, Abtahi Hamidreza, Reiisi Somayeh, Pourreza Mohammad Reza, Noori-Daloii Mohammad Reza, Tabatabaiefar Mohammad Am |
| Targeted Mutation Analysis of the SLC26A4, MYO6, PJVK and CDH23 Genes in Iranian Patients with AR Nonsyndromic Hearing Loss. Fetal and pediatric pathology 2019 Apr 38 (2): 93-102. Alimardani Maliheh, Hosseini Seyed Mojtaba, Khaniani Mahmoud Shekari, Haghi Mohsen Rajati, Eslahi Atieh, Farjami Mashsa, Chezgi Javad, Derakhshan Sima Mansoori, Mojarrad Maj |
| Genetic Aetiology of Nonsyndromic Hearing Loss in Moravia-Silesia. Medicina (Kaunas, Lithuania) 2018 10 54 (2): . Plevova Pavlina, Tvrda Petra, Paprskarova Martina, Turska Petra, Kantorova Barbara, Mrazkova Eva, Zapletalova Ja |
| Frequency of GJB2 mutations, GJB6-D13S1830 and GJB6-D13S1854 deletions among patients with non-syndromic hearing loss from the central region of Iran. Molecular genetics & genomic medicine 2019 6 7 (7): e00780. Naddafnia Hossein, Noormohammadi Zahra, Irani Shiva, Salahshoorifar Im |
| Molecular study of hearing loss in Minas Gerais, Brazil. Brazilian journal of otorhinolaryngology 2019 3 86 (3): 327-331. Schüffner Raíssa de Oliveira Aquino, Nascimento Karla Lima, Dias Fábio André, Silva Pedro Henrique Teodoro da, Pires Wrgelles Godinho Bordone, Cipriano Nilson Moreira, Santos Luciana Lara D |
| The Analysis of GJB2, GJB3, and GJB6 Gene Mutations in Patients with Hereditary Non-Syndromic Hearing Loss Living in Sivas. The journal of international advanced otology 2019 12 15 (3): 373-378. Küçük Kurtulgan Hande, Altunta? Emine Elif, Y?ld?r?m Malik Ejder, Özdemir Öztürk, Ba?c? Binnur, Sezgin ?lh |
| Development of in-house genetic screening for pediatric hearing loss. Laryngoscope investigative otolaryngology 2020 6 5 (3): 497-505. Doerfer Karl W, Sander Tara, Konduri Girija G, Friedland David R, Kerschner Joseph E, Runge Christina |
| 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 |
| Analyses of del(GJB6-D13S1830) and del(GJB6-D13S1834) deletions in a large cohort with hearing loss: Caveats to interpretation of molecular test results in multiplex families. Molecular genetics & genomic medicine 2020 Feb e1171. Pandya Arti, O'Brien Alexander, Kovasala Michael, Bademci Guney, Tekin Mustafa, Arnos Kathleen |
| GJB2 and GJB6 Genetic Variant Curation in an Argentinean Non-Syndromic Hearing-Impaired Cohort. Genes 2020 10 11 (10): . Buonfiglio Paula, Bruque Carlos D, Luce Leonela, Giliberto Florencia, Lotersztein Vanesa, Menazzi Sebastián, Paoli Bibiana, Elgoyhen Ana Belén, Dalamón Vivia |
| 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 |
| Evaluation of the GJB2 and GJB6 Polymorphisms with Autosomal Recessive Nonsyndromic Hearing Loss in Iranian Population. Iranian journal of otorhinolaryngology 2021 Mar 33 (115): 79-86. Ebrahimkhani Somayeh, Asaadi Tehrani Goln |
| Etiology of early hearing loss in Brazilian children. Brazilian journal of otorhinolaryngology 2021 Mar . Faistauer Marina, Lang Silva Alice, Félix Têmis Maria, Todeschini de Souza Liliane, Bohn Renata, Selaimen da Costa Sady, Petersen Schmidt Rosito Letíc |
| 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 |
| Gjb3 Gene Mutations in Non-Syndromic Hearing Loss of Bloch, Kurd, and Turkmen Ethnicities in Iran. Iranian journal of public health 2021 3 49 (11): 2128-2135. Aliazami Farnoush, Farhud Dariush, Zarif-Yeganeh Marjan, Salehi Siamak, Hosseinipour Azam, Sasanfar Roxana, Eslami Mary |
| 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 |
| A novel missense variant in ESRRB gene causing autosomal recessive non-syndromic hearing loss: in silico analysis of a case. BMC medical genomics 2022 2 15 (1): 18. Ghasemnejad Tohid, Shekari Khaniani Mahmoud, Nouri Nojadeh Jafar, Mansoori Derakhshan Si |
| Carrier screening for present disease prevalence and recessive genetic disorder in Taiwanese population. Journal of human genetics 2023 12 . Li Shan Chen, Cheng Wei Yu, Wei Jiun Li, Wen Chi Hsieh, Yi Ping |
| Non-Syndromic Hearing Loss in a Romanian Population: Carrier Status and Frequent Variants in the GJB2 Gene. Genes 2023 1 14 (1): . Riza Anca-Lelia, Alkhzouz Camelia, Farca? Marius, Pîrvu Andrei, Miclea Diana, Mihu? Gheorghe, Ple?ea R?zvan-Mihail, ?tefan Delia, Drodar Mihaela, Laz?r C?lin, On Behalf Of The Hint Study , On Behalf Of The Fuse Study , Ioana Mihai, Popp Ra |
| Whole Exome Sequencing of Non-Syndromic Hearing Loss Patients. Iranian journal of public health 2024 6 53 (2): 453-461. Hossein Naddafnia, Zahra Noormohammadi, Shiva Irani, Iman Salahshoorif |
- Page last reviewed:Feb 1, 2024
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