139 related articles for article (PubMed ID: 17684664)
1. Diagnosis routine and approach in genetic sensorineural hearing loss.
Abreu Alves FR; Quintanilha Ribeiro Fde A
Braz J Otorhinolaryngol; 2007; 73(3):412-7. PubMed ID: 17684664
[TBL] [Abstract][Full Text] [Related]
2. [The audiological phenotype and the prevalence of GJB2-related sensorineural loss of hearing in the infants suffering acoustic disturbances].
Lalaiants MR; Markova TG; Bakhshinian VV; Bliznets EA; Poliakov AV; Tavartikiladze GA
Vestn Otorinolaringol; 2014; (2):37-43. PubMed ID: 24781170
[TBL] [Abstract][Full Text] [Related]
3. Additional clinical manifestations in children with sensorineural hearing loss and biallelic GJB2 mutations: who should be offered GJB2 testing?
Kenna MA; Rehm HL; Robson CD; Frangulov A; McCallum J; Yaeger D; Krantz ID
Am J Med Genet A; 2007 Jul; 143A(14):1560-6. PubMed ID: 17455295
[TBL] [Abstract][Full Text] [Related]
4. [Incidence of A1555G mutations in the mitochondrial DNA and 35delG in the GJB2 gene (connexin-26) in families with late onset non-syndromic sensorineural hearing loss from Cantabria].
Gallo-Terán J; Morales-Angulo C; del Castillo I; Villamar M; Moreno-Pelayo MA; García-Mantilla J; Moreno F
Acta Otorrinolaringol Esp; 2002 Oct; 53(8):563-71. PubMed ID: 12530196
[TBL] [Abstract][Full Text] [Related]
5. Outcomes of clinical examination and genetic testing of 500 individuals with hearing loss evaluated through a genetics of hearing loss clinic.
Yaeger D; McCallum J; Lewis K; Soslow L; Shah U; Potsic W; Stolle C; Krantz ID
Am J Med Genet A; 2006 Apr; 140(8):827-36. PubMed ID: 16532460
[TBL] [Abstract][Full Text] [Related]
6. Molecular and hereditary mechanisms of sensorineural hearing loss with focus on selected endocrinopathies.
Masindova I; Varga L; Stanik J; Valentinova L; Profant M; Klimes I; Gasperikova D
Endocr Regul; 2012 Jul; 46(3):167-86. PubMed ID: 22808909
[TBL] [Abstract][Full Text] [Related]
7. Etiologic diagnosis of nonsyndromic genetic hearing loss in adult vs pediatric populations.
King PJ; Ouyang X; Du L; Yan D; Angeli SI; Liu XZ
Otolaryngol Head Neck Surg; 2012 Nov; 147(5):932-6. PubMed ID: 22785241
[TBL] [Abstract][Full Text] [Related]
8. Whole-exome sequencing reveals diverse modes of inheritance in sporadic mild to moderate sensorineural hearing loss in a pediatric population.
Kim NK; Kim AR; Park KT; Kim SY; Kim MY; Nam JY; Woo SJ; Oh SH; Park WY; Choi BY
Genet Med; 2015 Nov; 17(11):901-11. PubMed ID: 25719458
[TBL] [Abstract][Full Text] [Related]
9. Segregation of a new mutation in SLC26A4 and p.E47X mutation in GJB2 within a consanguineous Tunisian family affected with Pendred syndrome.
Ben Said M; Dhouib H; BenZina Z; Ghorbel A; Moreno F; Masmoudi S; Ayadi H; Hmani-Aifa M
Int J Pediatr Otorhinolaryngol; 2012 Jun; 76(6):832-6. PubMed ID: 22429511
[TBL] [Abstract][Full Text] [Related]
10. [Non-syndromic hereditary hearing impairment].
Birkenhäger R; Aschendorff A; Schipper J; Laszig R
Laryngorhinootologie; 2007 Apr; 86(4):299-309; quiz 310-3. PubMed ID: 17407011
[TBL] [Abstract][Full Text] [Related]
11. The p.Gly130Val mutation in the GJB2 gene: A familiar case of autosomal dominant non-syndromic hearing loss.
Bussini A; Righi R; Pessina C; Genoni A; Cristofari E; Meli A; Granata P; Meroni E; Broccolo F; Casalone R
Int J Pediatr Otorhinolaryngol; 2019 Dec; 127():109653. PubMed ID: 31472357
[TBL] [Abstract][Full Text] [Related]
12. Identification of both MT-RNR1 m.1555A>G and bi-allelic GJB2 mutations in probands with non-syndromic hearing loss.
Chai Y; Sun L; Pang X; Wang X; Chen D; Chen Y; Wu H; Yang T
Int J Pediatr Otorhinolaryngol; 2014 Apr; 78(4):614-7. PubMed ID: 24507663
[TBL] [Abstract][Full Text] [Related]
13. Moderate hearing loss and pseudodominant inheritance due to L90P/35delG mutations in the GJB2 (connexin 26) gene.
Tekin M; Duman T; Boğoçlu G; Incesulu A; Cin S; Akar N
Genet Couns; 2003; 14(4):379-86. PubMed ID: 14738110
[TBL] [Abstract][Full Text] [Related]
14. Improved diagnostic effectiveness with a sequential diagnostic paradigm in idiopathic pediatric sensorineural hearing loss.
Preciado DA; Lawson L; Madden C; Myer D; Ngo C; Bradshaw JK; Choo DI; Greinwald JH
Otol Neurotol; 2005 Jul; 26(4):610-5. PubMed ID: 16015155
[TBL] [Abstract][Full Text] [Related]
15. The A1555G mitochondrial DNA mutation in Greek patients with non-syndromic, sensorineural hearing loss.
Kokotas H; Grigoriadou M; Korres GS; Ferekidou E; Papadopoulou E; Neou P; Giannoulia-Karantana A; Kandiloros D; Korres S; Petersen MB
Biochem Biophys Res Commun; 2009 Dec; 390(3):755-7. PubMed ID: 19835846
[TBL] [Abstract][Full Text] [Related]
16. Particular distribution of the GJB2/GJB6 gene mutations in Mexican population with hearing impairment.
Loeza-Becerra F; Rivera-Vega Mdel R; Martínez-Saucedo M; Gonzalez-Huerta LM; Urueta-Cuellar H; Berrruecos-Villalobos P; Cuevas-Covarrubias S
Int J Pediatr Otorhinolaryngol; 2014 Jul; 78(7):1057-60. PubMed ID: 24774219
[TBL] [Abstract][Full Text] [Related]
17. Genetic laboratory practices related to testing of the GJB2 (Connexin-26) gene in the United States in 1999 and 2000.
Kenneson A; Myers MF; Lubin IM; Boyle C
Genet Test; 2003; 7(1):49-56. PubMed ID: 12820703
[TBL] [Abstract][Full Text] [Related]
18. [Analysis of positive rate of common genetic mutations in 1448 cases with different hearing phenotype].
Wang G; Yuan Y; Li R; Han M; Huang S; Kang D; Zhang X; Dong M; Dai P; Han D
Lin Chuang Er Bi Yan Hou Tou Jing Wai Ke Za Zhi; 2011 May; 25(10):445-8. PubMed ID: 21809555
[TBL] [Abstract][Full Text] [Related]
19. A diagnostic paradigm for childhood idiopathic sensorineural hearing loss.
Preciado DA; Lim LH; Cohen AP; Madden C; Myer D; Ngo C; Bradshaw JK; Lawson L; Choo DI; Greinwald JH
Otolaryngol Head Neck Surg; 2004 Dec; 131(6):804-9. PubMed ID: 15577772
[TBL] [Abstract][Full Text] [Related]
20. Connexin 26 gene (GJB2) mutation modulates the severity of hearing loss associated with the 1555A-->G mitochondrial mutation.
Abe S; Kelley PM; Kimberling WJ; Usami SI
Am J Med Genet; 2001 Nov; 103(4):334-8. PubMed ID: 11746015
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]