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Journal Abstract Search
478 related items for PubMed ID: 9529365
1. Novel mutations in the connexin 26 gene (GJB2) that cause autosomal recessive (DFNB1) hearing loss. Kelley PM, Harris DJ, Comer BC, Askew JW, Fowler T, Smith SD, Kimberling WJ. Am J Hum Genet; 1998 Apr; 62(4):792-9. PubMed ID: 9529365 [Abstract] [Full Text] [Related]
4. A missense mutation in connexin26, D66H, causes mutilating keratoderma with sensorineural deafness (Vohwinkel's syndrome) in three unrelated families. Maestrini E, Korge BP, Ocaña-Sierra J, Calzolari E, Cambiaghi S, Scudder PM, Hovnanian A, Monaco AP, Munro CS. Hum Mol Genet; 1999 Jul; 8(7):1237-43. PubMed ID: 10369869 [Abstract] [Full Text] [Related]
5. GJB2 (Cx26) gene mutations in Chinese patients with congenital sensorineural deafness and a report of one novel mutation. Xiao ZA, Xie DH. Chin Med J (Engl); 2004 Dec; 117(12):1797-801. PubMed ID: 15603707 [Abstract] [Full Text] [Related]
6. Mutations in the connexin 26 gene (GJB2) among Ashkenazi Jews with nonsyndromic recessive deafness. Morell RJ, Kim HJ, Hood LJ, Goforth L, Friderici K, Fisher R, Van Camp G, Berlin CI, Oddoux C, Ostrer H, Keats B, Friedman TB. N Engl J Med; 1998 Nov 19; 339(21):1500-5. PubMed ID: 9819448 [Abstract] [Full Text] [Related]
9. Update of spectrum c.35delG and c.-23+1G>A mutations on the GJB2 gene in individuals with autosomal recessive nonsyndromic hearing loss. Azadegan-Dehkordi F, Ahmadi R, Koohiyan M, Hashemzadeh-Chaleshtori M. Ann Hum Genet; 2019 Jan 19; 83(1):1-10. PubMed ID: 30175840 [Abstract] [Full Text] [Related]
12. Prevalence of GJB2 Mutations in Affected Individuals from United Arab Emirates with Autosomal Recessive Nonsyndromic Hearing Loss. Tlili A, Al Mutery A, Kamal Eddine Ahmad Mohamed W, Mahfood M, Hadj Kacem H. Genet Test Mol Biomarkers; 2017 Nov 19; 21(11):686-691. PubMed ID: 29016196 [Abstract] [Full Text] [Related]
16. Identification of mutations in the connexin 26 gene that cause autosomal recessive nonsyndromic hearing loss. Scott DA, Kraft ML, Carmi R, Ramesh A, Elbedour K, Yairi Y, Srisailapathy CR, Rosengren SS, Markham AF, Mueller RF, Lench NJ, Van Camp G, Smith RJ, Sheffield VC. Hum Mutat; 1998 Nov 19; 11(5):387-94. PubMed ID: 9600457 [Abstract] [Full Text] [Related]
17. 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 Nov 19; 11(4):347-52. PubMed ID: 18294049 [Abstract] [Full Text] [Related]
18. GJB2 and GJB6 mutations are an infrequent cause of autosomal-recessive nonsyndromic hearing loss in residents of Mexico. Hernández-Juárez AA, Lugo-Trampe Jde J, Campos-Acevedo LD, Lugo-Trampe A, Treviño-González JL, de-la-Cruz-Ávila I, Martínez-de-Villarreal LE. Int J Pediatr Otorhinolaryngol; 2014 Dec 19; 78(12):2107-12. PubMed ID: 25288386 [Abstract] [Full Text] [Related]