Human Genome Epidemiology Literature Finder
Records 1 - 15 (of 15 Records) |
Query Trace: Abnormalities and GJB2[original query] |
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Audiometric evaluation of carriers of the connexin 26 mutation 35delG. 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 2005 Nov 262 (11): 921-4. Franzé Annamaria, Caravelli Antonella, Di Leva Francesca, Marciano Elio, Auletta Gennaro, D'Aulos Federica, Saulino Claudio, Esposito Laura, Carella Massimo, Gasparini Pao |
Phenotype/genotype correlations in a DFNB1 cohort with ethnical diversity. The Laryngoscope 2008 Nov 118 (11): 2014-23. Angeli Simon |
Molecular studies in the GJB2 gene (Cx26) among a deaf population from Bogotá, Colombia: results of a screening program. International journal of pediatric otorhinolaryngology 2009 Jan 73 (1): 97-101. Tamayo M L, Olarte M, Gelvez N, Gómez M, Frías J L, Bernal J E, Florez S, Medina |
Ultrastructure of the hair in genetic prelingual deafness associated with the 35delG mutation in the connexin 26 gene (GJB2). Bulletin of experimental biology and medicine 2009 Jul 148 (1): 79-81. Zhuravskiy S G, Kurus A A, Taraskina A E, Ivanov S |
Spectrum and frequency of SLC26A4 mutations among Czech patients with early hearing loss with and without Enlarged Vestibular Aqueduct (EVA). Annals of human genetics 2010 Jul 74 (4): 299-307. Pourová Radka, Janousek Petr, Jurovcík Michal, Dvoráková Marcela, Malíková Marcela, Rasková Dagmar, Bendová Olga, Leonardi Emanuela, Murgia Alessandra, Kabelka Zdenek, Astl Jaromír, Seeman Pav |
Vestibular function of patients with profound deafness related to GJB2 mutation. Acta oto-laryngologica 2010 Apr . Kasai M, Hayashi C, Iizuka T, Inoshita A, Kamiya K, Okada H, Nakajima Y, Kaga K, Ikeda K |
Sensorineural hearing loss in a pediatric population: association of congenital cytomegalovirus infection with intracranial abnormalities. Archives of otolaryngology--head & neck surgery 2010 Oct 136 (10): 999-1004. Kimani Jane W, Buchman Craig A, Booker Jessica K, Huang Benjamin Y, Castillo Mauricio, Powell Cynthia M, Weck Karen |
[Tonal audiometry of GJB2 235delC single heterozygous mutation carriers]. Zhonghua er bi yan hou tou jing wai ke za zhi = Chinese journal of otorhinolaryngology head and neck surgery 2011 Jul 46 (7): 543-6. Li Qi, Fang Ru-ping, Wang Guo-jian, Liu Fang, Dai |
GJB2-associated hearing loss: systematic review of worldwide prevalence, genotype, and auditory phenotype. The Laryngoscope 2014 Feb 124 (2): E34-53. Chan Dylan K, Chang Kay |
Hearing impairment in Estonia: an algorithm to investigate genetic causes in pediatric patients. Advances in medical sciences 2013 58 (2): 419-28. Teek R, Kruustük K, Žordania R, Joost K, Kahre T, Tõnisson N, Nelis M, Zilina O, Tranebjaerg L, Reimand T, Ounap |
Significance of heterozygosis M34T mutation of GJB2 gene in non-syndromic congenital deafness. Retrospective analysis of 12,472 samples of amniotic fluid. Journal of prenatal medicine 2013 Oct 7 (4): 56-8. Coco Manuela, Salvinelli Fabrizio, Greco Fabio, Trivelli Maurizio, D'Emidio Laura, Mesoraca Alvaro, Giorlandino Claudio, Raffio Raffaella, Coco Claud |
The Yield of Multigene Testing in the Management of Pediatric Unilateral Sensorineural Hearing Loss. Otology & neurotology : official publication of the American Otological Society, American Neurotology Society [and] European Academy of Otology and Neurotology 2016 09 37 (8): 1066-70. Gruber Maayan, Brown Colin, Mahadevan Murali, van der Meer Graeme, Neeff Mich |
Role of Targeted Next Generation Sequencing in the Etiological Work-Up of Congenitally Deaf Children. Otology & neurotology : official publication of the American Otological Society, American Neurotology Society [and] European Academy of Otology and Neurotology 2018 Jul 39 (6): 732-738. Boudewyns An, van den Ende Jenneke, Sommen Manou, Wuyts Wim, Peeters Nils, Van de Heyning Paul, Van Camp G |
Locus and allelic heterogeneity and phenotypic variability in Waardenburg syndrome. Clinical genetics 2018 11 95 (3): 398-402. Somashekar Puneeth H, Girisha Katta M, Nampoothiri Sheela, Gowrishankar Kalpana, Devi Radha R, Gupta Neerja, Narayanan Dhanya L, Kaur Anupriya, Bajaj Shruti, Jagadeesh Sujatha, Lewis Leslie E S, Shailaja Shenoy, Shukla An |
Analysis of Genetic Variations in Connexin 26 ( GJB2 ) Gene among Nonsyndromic Hearing Impairment: Familial Study. Global medical genetics 2022 6 9 (2): 152-158. Hegde Smita, Hegde Rajat, Kulkarni Suyamindra S, Das Kusal K, Gai Pramod B, Bulagouda Rudragouda |
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- Page last updated:Apr 16, 2024
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