Human Genome Epidemiology Literature Finder
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Records 1 - 15 (of 15 Records) |
| Query Trace: Disease and GJB6[original query] |
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| High frequency of 35delG GJB2 mutation and absence of del(GJB6-D13S1830) in Greek Cypriot patients with nonsyndromic hearing loss. Genetic testing 2006 10 (4): 285-9. Neocleous Vassos, Aspris Andreas, Shahpenterian Vasken, Nicolaou Vassos, Panagi Charalambos, Ioannou Ioannis, Kyamides Yiannis, Anastasiadou Violetta, Phylactou Leonidas |
| Prevalence of DFNB1 mutations in Argentinean children with non-syndromic deafness. Report of a novel mutation in GJB2. International journal of pediatric otorhinolaryngology 2010 Mar 74 (3): 250-4. Gravina Luis Pablo, Foncuberta María Eugenia, Prieto María Eugenia, Garrido Jeniffer, Barreiro Cristina, Chertkoff Lili |
| Pediatric cholesteatoma and variants in the gene encoding connexin 26. The Laryngoscope 2010 Jan 120 (1): 183-7. James Adrian L, Chadha Neil K, Papsin Blake C, Stockley Tracy |
| GJB2 mutations in patients with nonsyndromic hearing loss from Croatia. Genetic testing and molecular biomarkers 2009 Oct 13 (5): 693-9. Sansovi? Ivona, Knezevi? Jelena, Musani Vesna, Seeman Pavel, Barisi? Ingeborg, Paveli? Jasmin |
| Prevalence of Connexin 26 (GJB2) and Pendred (SLC26A4) mutations in a population of adult cochlear implant candidates. Otology & neurotology : official publication of the American Otological Society, American Neurotology Society [and] European Academy of Otology and Neurotology 2010 Aug 31 (6): 919-22. Hochman Jordan B, Stockley Tracy L, Shipp D, Lin Vincent Y W, Chen Joseph M, Nedzelski Julian |
| GJB2 mutation spectrum in 209 hearing impaired individuals of predominantly Caribbean Hispanic and African descent. International journal of pediatric otorhinolaryngology 2010 Jun 74 (6): 611-8. Shan Jidong, Chobot-Rodd Janie, Castellanos Raquel, Babcock Melanie, Shanske Alan, Parikh Sanjay R, Morrow Bernice E, Samanich J |
| Absence of GJB2 gene mutations, the GJB6 deletion (GJB6-D13S1830) and four common mitochondrial mutations in nonsyndromic genetic hearing loss in a South African population. International journal of pediatric otorhinolaryngology 2011 May 75 (5): 611-7. Kabahuma Rosemary I, Ouyang Xiaomei, Du Li Lin, Yan Denise, Hutchin Tim, Ramsay Michele, Penn Claire, Liu Xue-Zho |
| 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 |
| Spectrum and frequency of GJB2, GJB6 and SLC26A4 gene mutations among nonsyndromic hearing loss patients in eastern part of India. Gene 2015 Dec 573 (2): 239-45. Adhikary Bidisha, Ghosh Sudakshina, Paul Silpita, Bankura Biswabandhu, Pattanayak Arup Kumar, Biswas Subhradev, Maity Biswanath, Das Madhusud |
| A known mutation in GJB6 in a large Chinese family with hidrotic ectodermal dysplasia. Journal of the European Academy of Dermatology and Venereology : JEADV 2016 May . Yang R, Hu Zl, Kong Qt, Li Ww, Zhang Ll, Du X, Huang Sy, Xia Xy, Sang |
| 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 |
| Germline mutations in young non-smoking women with lung adenocarcinoma. Lung cancer (Amsterdam, Netherlands) 2018 7 122 76-82. Donner Iikki, Katainen Riku, Sipilä Lauri J, Aavikko Mervi, Pukkala Eero, Aaltonen Lauri |
| Connexin Genes Variants Associated with Non-Syndromic Hearing Impairment: A Systematic Review of the Global Burden. Life (Basel, Switzerland) 2020 10 10 (11): . Adadey Samuel Mawuli, Wonkam-Tingang Edmond, Twumasi Aboagye Elvis, Nayo-Gyan Daniel Wonder, Boatemaa Ansong Maame, Quaye Osbourne, Awandare Gordon A, Wonkam Ambroi |
| 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 |
| 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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