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275 results on '"Sziklai I"'

2. High co-prevalence of genogroup 1 TT virus and human papillomavirus is associated with poor clinical outcome of laryngeal carcinoma

Author

Szladek, G., Juhasz, A., Kardos, G., Szoke, K., Major, T., Sziklai, I., Tar, I., Marton, I., Konya, J., Gergely, L., and Szarka, K.

Subjects
TT virus infections -- Research, TT virus infections -- Complications and side effects, Papillomavirus infections -- Research, Papillomavirus infections -- Complications and side effects, Laryngeal cancer -- Research, Laryngeal cancer -- Causes of, Health
Published
2005

28. Increase in the safety margin by BGP-15 of cisplatin in the guinea pig

Author

Racz, T, Szilvassy, J, Sziklai, I, Rabloczky, G, and Szilvassy, Z

Subjects
ddc: 610, nerve conduction velocity, peripheral sensory neuropathy, cisplatin, toxic effects of antitumor drugs, prevention of neuropathy, modulation of PARP activity, BGP-15, poly- (ADP-ribose)-polymerase (PARP) enzyme
Published
2006

33. GJB2 mutations and degree of hearing loss: a multicenter study.

Author

Snoeckx, R.L., Huygen, P.L.M., 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, A.R., Nekahm-Heis, D., Seeman, P., Bendova, O., Kenna, M.A., Frangulov, A., Rehm, H.L., Tekin, M., Incesulu, A., Dahl, H.H., Sart, D. du, Jenkins, L., Lucas, D., Bitner-Glindzicz, M., Avraham, K.B., Brownstein, Z., Castillo, I. del, Moreno, F., Blin, N., Pfister, M., Sziklai, I., Toth, T., Kelley, P.M., Cohn, E.S., Maldergem, L. van, Hilbert, P., Roux, A.F., Mondain, M., Hoefsloot, L.H., Cremers, C.W.R.J., 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., Heyning, P. van de, Nishimura, C.J., Smith, R.J.H., Camp, G. van, Snoeckx, R.L., Huygen, P.L.M., 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, A.R., Nekahm-Heis, D., Seeman, P., Bendova, O., Kenna, M.A., Frangulov, A., Rehm, H.L., Tekin, M., Incesulu, A., Dahl, H.H., Sart, D. du, Jenkins, L., Lucas, D., Bitner-Glindzicz, M., Avraham, K.B., Brownstein, Z., Castillo, I. del, Moreno, F., Blin, N., Pfister, M., Sziklai, I., Toth, T., Kelley, P.M., Cohn, E.S., Maldergem, L. van, Hilbert, P., Roux, A.F., Mondain, M., Hoefsloot, L.H., Cremers, C.W.R.J., 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., Heyning, P. van de, Nishimura, C.J., Smith, R.J.H., and Camp, G. van

Abstract

Contains fulltext : 47828.pdf (publisher's version ) (Closed access), Hearing impairment (HI) affects 1 in 650 newborns, which makes it the most common congenital sensory impairment. Despite extraordinary genetic heterogeneity, mutations in one gene, GJB2, which encodes the connexin 26 protein and is involved in inner ear homeostasis, are found in up to 50% of patients with autosomal recessive nonsyndromic hearing loss. Because of the high frequency of GJB2 mutations, mutation analysis of this gene is widely available as a diagnostic test. In this study, we assessed the association between genotype and degree of hearing loss in persons with HI and biallelic GJB2 mutations. We performed cross-sectional analyses of GJB2 genotype and audiometric data from 1,531 persons, from 16 different countries, with autosomal recessive, mild-to-profound nonsyndromic HI. The median age of all participants was 8 years; 90% of persons were within the age range of 0-26 years. Of the 83 different mutations identified, 47 were classified as nontruncating, and 36 as truncating. A total of 153 different genotypes were found, of which 56 were homozygous truncating (T/T), 30 were homozygous nontruncating (NT/NT), and 67 were compound heterozygous truncating/nontruncating (T/NT). The degree of HI associated with biallelic truncating mutations was significantly more severe than the HI associated with biallelic nontruncating mutations (P<.0001). The HI of 48 different genotypes was less severe than that of 35delG homozygotes. Several common mutations (M34T, V37I, and L90P) were associated with mild-to-moderate HI (median 25-40 dB). Two genotypes--35delG/R143W (median 105 dB) and 35delG/dela(GJB6-D13S1830) (median 108 dB)--had significantly more-severe HI than that of 35delG homozygotes.

Published
2005

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