Beispiel | Beispiel | <section> <templateId root="2.16.840.1.113883.10.20.20.1.9.3"/> <title>References</title> <text> <list> <item> <content> Azaiez H, Chamberlin GP, Fischer SM, Welp CL, Prasad SD, Taggart RT, del Castillo, I, Van Camp G and Smith RJ. GJB2: the spectrum of deafnesscausing allele variants and their phenotype. Hum Mutat. 2004;24(4): 305-11. </content> </item> <item> <content> Calvo J, Rabionet R, Gasparini P, Estivill X. Connexins and Deafness Homepage. http://www.crg.es/deafness. </content> </item> <item> <content> del Castillo I, Moreno-Pelayo MA, del Castillo FJ, Brownstein Z, Marlin S, Adina Q, Cockburn DJ, Pandya A, Siemering KR, Chamberlin GP, Ballana E, Wuyts W, Maciel-Guerra AT, Alvarez A, Villamar M, Shohat M, Abeliovich D, Dahl HH, Estivill X, Gasparini P, Hutchin T, Nance WE, Sartorato EL, Smith RJ, Van Camp G, Avraham KB, Petit C. and Moreno F. Prevalence and evolutionary origins of the del(GJB6-D13S1830) mutation in the DFNB1 locus in hearing-impaired subjects: a multicenter study. Am J Hum Genet. 2003;73: 1452-1458. </content> </item> <item> <content> Kelley PM, Harris DJ, Comer BC, Askew JW, Fowler T, Smith SD, Kimberling WJ. Novel mutations in the connexin 26 gene (GJB2) that cause autosomal recessive (DFNB1) hearing loss. Am J Hum Genet. 1998 Apr;62(4):792-9. </content> </item> <item> <content> Kenna MA, Wu BL, Cotanche DA, Korf BR, Rehm HL. Connexin 26 studies in patients with sensorineural hearing loss. Arch Otolaryngol Head Neck Surg. 2001 Sep;127(9):1037-42. </content> </item> <item> <content> Kenneson A, Van Naarden Braun K and Boyle C. GJB2 (connexin 26) variants and nonsyndromic sensorineural hearing loss: a HuGE review. Genet Med. 2002;4(4): 258-74. </content> </item> <item> <content> Park HJ, Hahn SH, Chun YM, Park K, Kim HN. Connexin26 mutations associated with nonsyndromic hearing loss. Laryngoscope. 2000 Sep;110(9):1535-8. </content> </item> <item> <content> Rickard S, Kelsell DP, Sirimana T, Rajput K, MacArdle B, Bitner-Glindzicz M. Recurrent mutations in the deafness gene GJB2 (connexin 26) in British Asian families. J Med Genet. 2001 Aug;38(8):530-3. </content> </item> <item> <content> Smith RJH, Van Camp G. Nonsyndromic hearing loss and deafness, DFNB1 (Updated March 14, 2005) In: GeneReviews at GeneTests: Medical Genetics Information Resource (database online). http://www.genetests.org. </content> </item> <item> <content> Snoeckx RL, Huygen PLM, Feldmann D, Marlin S, Denoyelle F, Waligora J, Mueller-Malesinska M, Pollak A, Ploski R, Murgia A, Orzan E, Castorina P, Ambrosetti U, Nowakowska-Szyrwinska E, Bal J, Wiszniewski W, Janecke AR, Nekahm-Heis D, Seeman P, Bendova O, Kenna MA, Frangulov A, Rehm HL, Tekin M, Incesulu A, Dahl H-HM, du Sart D, Jenkins L, Lucas D, Bitner-Glindzicz M, Avraham KB, Brownstein Z, del Castillo I, Moreno F, Blin N, Pfister M, Sziklai I, Toth T, Kelley PM, Cohn ES, Maldergem LV, Hilbert P, Roux A-F, Mondain M, Hoefsloot, LH Cremers CWRJ, Lopponen T, Lopponen H, Parving A, Gronskov K, Schrijver I, Roberson J, Gualandi F, Martini A, Lina-Granade G, Pallares-Ruiz N, Correia C, Fialho G, Cryns K, Hilgert N, Van de Heyning P, Nishimura CJ, Smith RJH, and Van Camp G. A genotype-phenotype correlation for GJB2 (connexin 26) deafness. Am J Med Genet 2005 Dec;77(6):945-57. </content> </item> </list> </text></section> |
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