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Journal Abstract Search
189 related items for PubMed ID: 16222667
1. Connexin 26 variants and auditory neuropathy/dys-synchrony among children in schools for the deaf. Cheng X, Li L, Brashears S, Morlet T, Ng SS, Berlin C, Hood L, Keats B. Am J Med Genet A; 2005 Nov 15; 139(1):13-8. PubMed ID: 16222667 [Abstract] [Full Text] [Related]
2. Audiological and electrocochleography findings in hearing-impaired children with connexin 26 mutations and otoacoustic emissions. Santarelli R, Cama E, Scimemi P, Dal Monte E, Genovese E, Arslan E. Eur Arch Otorhinolaryngol; 2008 Jan 15; 265(1):43-51. PubMed ID: 17701047 [Abstract] [Full Text] [Related]
3. Mutation analysis of GJB2 and GJB6 genes in Southeastern Brazilians with hereditary nonsyndromic deafness. Cordeiro-Silva Mde F, Barbosa A, Santiago M, Provetti M, Dettogni RS, Tovar TT, Rabbi-Bortolini E, Louro ID. Mol Biol Rep; 2011 Feb 15; 38(2):1309-13. PubMed ID: 20563649 [Abstract] [Full Text] [Related]
4. Does universal newborn hearing screening identify all children with GJB2 (Connexin 26) deafness? Penetrance of GJB2 deafness. Norris VW, Arnos KS, Hanks WD, Xia X, Nance WE, Pandya A. Ear Hear; 2006 Dec 15; 27(6):732-41. PubMed ID: 17086082 [Abstract] [Full Text] [Related]
5. Prevalence of GJB2 (connexin-26) and GJB6 (connexin-30) mutations in a cohort of 300 Brazilian hearing-impaired individuals: implications for diagnosis and genetic counseling. Batissoco AC, Abreu-Silva RS, Braga MC, Lezirovitz K, Della-Rosa V, Alfredo T, Otto PA, Mingroni-Netto RC. Ear Hear; 2009 Feb 15; 30(1):1-7. PubMed ID: 19125024 [Abstract] [Full Text] [Related]
6. GJB2 mutations: Genotypic and phenotypic correlation in a cohort of 690 hearing-impaired patients, toward a new mutation? Leclère JC, Le Gac MS, Le Maréchal C, Ferec C, Marianowski R. Int J Pediatr Otorhinolaryngol; 2017 Nov 15; 102():80-85. PubMed ID: 29106882 [Abstract] [Full Text] [Related]
7. Prevalence of Connexin 26 (GJB2) and Pendred (SLC26A4) mutations in a population of adult cochlear implant candidates. Hochman JB, Stockley TL, Shipp D, Lin VY, Chen JM, Nedzelski JM. Otol Neurotol; 2010 Aug 15; 31(6):919-22. PubMed ID: 20601923 [Abstract] [Full Text] [Related]
8. Detection of the 35delG/GJB2 and del(GJB6-D13S1830) mutations in Venezuelan patients with autosomal recessive nonsyndromic hearing loss. Utrera R, Ridaura V, Rodríguez Y, Rojas MJ, Mago L, Angeli S, Henríquez O. Genet Test; 2007 Aug 15; 11(4):347-52. PubMed ID: 18294049 [Abstract] [Full Text] [Related]
9. The effects of a connexin 26 mutation--35delG--on oto-acoustic emissions and brainstem evoked potentials: homozygotes and carriers. Engel-Yeger B, Zaaroura S, Zlotogora J, Shalev S, Hujeirat Y, Carrasquillo M, Barges S, Pratt H. Hear Res; 2002 Jan 15; 163(1-2):93-100. PubMed ID: 11788203 [Abstract] [Full Text] [Related]
10. Carrier rates in the midwestern United States for GJB2 mutations causing inherited deafness. Green GE, Scott DA, McDonald JM, Woodworth GG, Sheffield VC, Smith RJ. JAMA; 1999 Jun 16; 281(23):2211-6. PubMed ID: 10376574 [Abstract] [Full Text] [Related]
11. Connexin gene mutations among Ugandan patients with nonsyndromic sensorineural hearing loss. Javidnia H, Carson N, Awubwa M, Byaruhanga R, Mack D, Vaccani JP. Laryngoscope; 2014 Sep 16; 124(9):E373-6. PubMed ID: 24706568 [Abstract] [Full Text] [Related]
12. Prevalence of c.35delG and p.M34T mutations in the GJB2 gene in Estonia. Teek R, Kruustük K, Zordania R, Joost K, Reimand T, Möls T, Oitmaa E, Kahre T, Tõnisson N, Ounap K. Int J Pediatr Otorhinolaryngol; 2010 Sep 16; 74(9):1007-12. PubMed ID: 20708129 [Abstract] [Full Text] [Related]
13. GJB2 (connexin 26) gene mutations in Moroccan patients with autosomal recessive non-syndromic hearing loss and carrier frequency of the common GJB2-35delG mutation. Abidi O, Boulouiz R, Nahili H, Ridal M, Alami MN, Tlili A, Rouba H, Masmoudi S, Chafik A, Hassar M, Barakat A. Int J Pediatr Otorhinolaryngol; 2007 Aug 16; 71(8):1239-45. PubMed ID: 17553572 [Abstract] [Full Text] [Related]
14. Saccular dysfunction in children with sensorineural hearing loss and auditory neuropathy/auditory dys-synchrony. Emami SF, Farahani F. Acta Otolaryngol; 2015 Aug 16; 135(12):1298-303. PubMed ID: 26246016 [Abstract] [Full Text] [Related]
15. Connexin 26 mutations and nonsyndromic hearing impairment in northern Finland. Löppönen T, Väisänen ML, Luotonen M, Allinen M, Uusimaa J, Lindholm P, Mäki-Torkko E, Väyrynen M, Löppönen H, Leisti J. Laryngoscope; 2003 Oct 16; 113(10):1758-63. PubMed ID: 14520102 [Abstract] [Full Text] [Related]
16. A genotype-phenotype correlation for GJB2 (connexin 26) deafness. Cryns K, Orzan E, Murgia A, Huygen PL, Moreno F, del Castillo I, Chamberlin GP, Azaiez H, Prasad S, Cucci RA, Leonardi E, Snoeckx RL, Govaerts PJ, Van de Heyning PH, Van de Heyning CM, Smith RJ, Van Camp G. J Med Genet; 2004 Mar 16; 41(3):147-54. PubMed ID: 14985372 [Abstract] [Full Text] [Related]
17. A novel frameshift mutation (c.405delC) in the GJB2 gene associated with autosomal recessive hearing loss in two Tunisian families. Riahi Z, Chahed H, Jaafoura H, Zainine R, Messaoud O, Naili M, Nagara M, Hammami H, Laroussi N, Bouyacoub Y, Kefi R, Bonnet C, Besbes G, Abdelhak S. Int J Pediatr Otorhinolaryngol; 2013 Sep 16; 77(9):1485-8. PubMed ID: 23856379 [Abstract] [Full Text] [Related]
18. GJB2 and GJB6 mutations: genotypic and phenotypic correlations in a large cohort of hearing-impaired patients. Marlin S, Feldmann D, Blons H, Loundon N, Rouillon I, Albert S, Chauvin P, Garabédian EN, Couderc R, Odent S, Joannard A, Schmerber S, Delobel B, Leman J, Journel H, Catros H, Lemarechal C, Dollfus H, Eliot MM, Delaunoy JL, David A, Calais C, Drouin-Garraud V, Obstoy MF, Goizet C, Duriez F, Fellmann F, Hélias J, Vigneron J, Montaut B, Matin-Coignard D, Faivre L, Baumann C, Lewin P, Petit C, Denoyelle F. Arch Otolaryngol Head Neck Surg; 2005 Jun 16; 131(6):481-7. PubMed ID: 15967879 [Abstract] [Full Text] [Related]
19. Hearing loss features in GJB2 biallelic mutations and GJB2/GJB6 digenic inheritance in a large Italian cohort. Cama E, Melchionda S, Palladino T, Carella M, Santarelli R, Genovese E, Benettazzo F, Zelante L, Arslan E. Int J Audiol; 2009 Jan 16; 48(1):12-7. PubMed ID: 19173109 [Abstract] [Full Text] [Related]
20. Longitudinal phenotypic analysis in patients with connexin 26 (GJB2) (DFNB1) and connexin 30 (GJB6) mutations. Stinckens C, Kremer H, van Wijk E, Hoefsloot LH, Huygen PL, Standaert L, Fryns JP, Cremers CW. Ann Otol Rhinol Laryngol; 2004 Jul 16; 113(7):587-93. PubMed ID: 15274422 [Abstract] [Full Text] [Related] Page: [Next] [New Search]