Human Genome Epidemiology Literature Finder
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Records 1 - 30 (of 70 Records) |
| Query Trace: Deafness and GJB6[original query] |
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| Prevalence of mutations located at the dfnb1 locus in a population of cochlear implanted children in eastern Romania. International journal of pediatric otorhinolaryngology 2012 Jan 76 (1): 90-4. R?dulescu Lumini?a, Mâr?u Cristian, Birkenhäger Ralf, Cozma Sebastian, Ungureanu Loreta, Laszig Rola |
| Novel mutations affecting the secondary structure of MT-RNR1 gene: a causal relationship with profound nonsyndromic hearing impairment. Genetic testing and molecular biomarkers 2012 Sep 16 (9): 1092-7. Padma Gunda, Ramchander Puppala Venkat, Nandur Vijaya Udaya, Kumar Kurapati Ravi, Padma Tirunil |
| Unique spectrum of GJB2 mutations in Mexico. International journal of pediatric otorhinolaryngology 2012 Nov 76 (11): 1678-80. de la Luz Arenas-Sordo Maria, Menendez Ibis, Hernández-Zamora Edgar, Sirmaci Asli, Gutiérrez-Tinajero Diana, McGetrick Molly, Murphy-Ruiz Paulina, Leyva-Juárez Xolotl, Huesca-Hernández Fabiola, Dominguez-Aburto Juan, Tekin Musta |
| Etiologic diagnosis of nonsyndromic genetic hearing loss in adult vs pediatric populations. Otolaryngology--head and neck surgery : official journal of American Academy of Otolaryngology-Head and Neck Surgery 2012 Nov 147 (5): 932-6. King Peter J, Ouyang Xiaomei, Du Lilin, Yan Denise, Angeli Simon I, Liu Xue Zho |
| Low prevalence of GJB2 mutations in non-syndromic hearing loss in Western India. Indian journal of otolaryngology and head and neck surgery : official publication of the Association of Otolaryngologists of India 2012 11 62 (1): 60-3. Godbole Koumudi, Hemavathi J, Vaid Neelam, Pandit Anand N, Sandeep M N, Chandak G |
| Genetics of non syndromic hearing loss in the republic of macedonia. Balkan journal of medical genetics : BJMG 2012 Dec 15 (Suppl): 57-9. Sukarova Stefanovska E, Cakar M, Filipce I, Plaseska Karanfilska |
| Prevalence of DFNB1 mutations among cochlear implant users in Slovakia and its clinical implications. 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 2014 Jun 271 (6): 1401-7. Varga L, Mašindová I, Hu?ková M, Kabátová Z, Gašperíková D, Klimeš I, Profant |
| GJB2 and GJB6 screening in Tunisian patients with autosomal recessive deafness. International journal of pediatric otorhinolaryngology 2013 May 77 (5): 714-6. Trabelsi Mediha, Bahri Wafa, Habibi Marwene, Zainine Rim, Maazoul Faouzi, Ghazi Besbes, Chaabouni Habiba, Mrad Rid |
| Common genes for non-syndromic deafness are uncommon in sub-Saharan Africa: a report from Nigeria. International journal of pediatric otorhinolaryngology 2014 Nov 78 (11): 1870-3. Lasisi Akeem O, Bademci Guney, Foster Joseph, Blanton Susan, Tekin Musta |
| Identification and genotype/phenotype correlation of mutations in a large German cohort with hearing loss. 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 2015 Oct 272 (10): 2765-76. Beck Christopher, Pérez-Álvarez Jose Carmelo, Sigruener Alexander, Haubner Frank, Seidler Till, Aslanidis Charalampos, Strutz Jürgen, Schmitz Ge |
| In search of genetic markers for nonsyndromic deafness in Africa: a study in Cameroonians and Black South Africans with the GJB6 and GJA1 candidate genes. Omics : a journal of integrative biology 2014 Jul 18 (7): 481-5. Bosch Jason, Lebeko Kamogelo, Nziale Jean Jacques Noubiap, Dandara Collet, Makubalo Nomlindo, Wonkam Ambroi |
| Connexin gene mutations among Ugandan patients with nonsyndromic sensorineural hearing loss. The Laryngoscope 2014 Sep 124 (9): E373-6. Javidnia Hedyeh, Carson Nancy, Awubwa Michael, Byaruhanga Richard, Mack David, Vaccani Jean-Philip |
| Strong founder effect of p.P240L in CDH23 in Koreans and its significant contribution to severe-to-profound nonsyndromic hearing loss in a Korean pediatric population. Journal of translational medicine 2015 13 263. Kim So Young, Kim Ah Reum, Kim Nayoung K D, Kim Min Young, Jeon Eun-Hee, Kim Bong Jik, Han Young Eun, Chang Mun Young, Park Woong-Yang, Choi Byung Yo |
| No evidence for clinical utility in investigating the connexin genes GJB2, GJB6 and GJA1 in non-syndromic hearing loss in black Africans. South African medical journal = Suid-Afrikaanse tydskrif vir geneeskunde 2015 Jan 105 (1): 23-6. Wonkam A, Bosch J, Noubiap J J N, Lebeko K, Makubalo N, Dandara |
| TMPRSS3 mutations in autosomal recessive nonsyndromic hearing loss. 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 2015 Jun . Battelino Saba, Klancar Gasper, Kovac Jernej, Battelino Tadej, Trebusak Podkrajsek Katari |
| Prevalence of Deafness-Associated Connexin-26 (GJB2) and Connexin-30 (GJB6) Pathogenic Alleles in a Large Patient Cohort from Eastern Sicily. Annals of human genetics 2015 Jun . Amorini Maria, Romeo Petronilla, Bruno Rocco, Galletti Francesco, Di Bella Chiara, Longo Patrizia, Briuglia Silvana, Salpietro Carmelo, Rigoli Lucia |
| 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 |
| 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 |
| GJB2 mutations: Genotypic and phenotypic correlation in a cohort of 690 hearing-impaired patients, toward a new mutation? International journal of pediatric otorhinolaryngology 2017 11 102 80-85. Leclère Jean-Christophe, Le Gac Marie-Suzanne, Le Maréchal Cedric, Ferec Claude, Marianowski Ré |
| 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 |
| 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 |
| The spectrum of GJB2 gene mutations in Algerian families with nonsyndromic hearing loss from Sahara and Kabylie regions. International journal of pediatric otorhinolaryngology 2019 Jun 124 157-160. Talbi Sonia, Bonnet Crystel, Boudjenah Farid, Mansouri Mohammed Tahar, Petit Christine, Ammar Khodja Fati |
| 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 |
| 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 |
| Low incidence of GIPC3 variants among the prelingual hearing impaired from southern India. Journal of genetics 2020 11 99 . Kalaimathi Murugesan, Subathra Mahalingam, Jeffrey Justin Margret, Selvakumari Mathiyalagan, Chandru Jayasankaran, Sharanya Narasimhan, Paridhy Vanniya S, Srisailapathy C R Srikuma |
| 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 |
| 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 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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