Sziklai I - Search Results

1

[Phenotype of patients showing hearing impairment based on the 35delG mutation in the connexin 26 gene].

Tóth T, Kupka S, Sziklai I, Blin N, Zenner HP, Pfister M. Tóth T, et al. Among authors: sziklai i. HNO. 2003 May;51(5):400-4. doi: 10.1007/s00106-002-0737-2. Epub 2003 Mar 27. HNO. 2003. PMID: 12835856 German.

2

[Frequency of the Connexin26/35delG mutation and its characteristic phenotype in patients with hearing impairment and controls in Northeastern Hungary].

Tóth T, Kupka S, Blin N, Pfister M, Sziklai I. Tóth T, et al. Among authors: sziklai i. Orv Hetil. 2002 Oct 6;143(40):2285-9. Orv Hetil. 2002. PMID: 12420583 Hungarian.

3

GJB2 mutations in patients with non-syndromic hearing loss from Northeastern Hungary.

Tóth T, Kupka S, Haack B, Riemann K, Braun S, Fazakas F, Zenner HP, Muszbek L, Blin N, Pfister M, Sziklai I. Tóth T, et al. Among authors: sziklai i. Hum Mutat. 2004 Jun;23(6):631-2. doi: 10.1002/humu.9250. Hum Mutat. 2004. PMID: 15146474

4

Frequency of the recessive 30delG mutation in the GJB2 gene in Northeast-Hungarian individuals and patients with hearing impairment.

Tóth T, Kupka S, Esmer H, Zeissler U, Sziklai I, Zenner HP, Blin N, Pfister M. Tóth T, et al. Among authors: sziklai i. Int J Mol Med. 2001 Aug;8(2):189-92. Int J Mol Med. 2001. PMID: 11445873

5

[Phenotypic characterization of a DFNA6 family with low-frequency hearing loss].

Tóth T, Kupka S, Nürnberg P, Thiele H, Zenner HP, Sziklai I, Pfister M. Tóth T, et al. Among authors: sziklai i. HNO. 2004 Feb;52(2):132-6. doi: 10.1007/s00106-003-0912-0. HNO. 2004. PMID: 14968315 German.

6

Phenotypic characterization of a DFNA6 family showing progressive low-frequency sensorineural hearing impairment.

Tóth T, Pfister M, Zenner HP, Sziklai I. Tóth T, et al. Among authors: sziklai i. Int J Pediatr Otorhinolaryngol. 2006 Feb;70(2):201-6. doi: 10.1016/j.ijporl.2005.06.011. Epub 2005 Jul 25. Int J Pediatr Otorhinolaryngol. 2006. PMID: 16043233

7

Coincidence of mutations in different connexin genes in Hungarian patients.

Tóth T, Kupka S, Haack B, Fazakas F, Muszbek L, Blin N, Pfister M, Sziklai I. Tóth T, et al. Among authors: sziklai i. Int J Mol Med. 2007 Sep;20(3):315-21. Int J Mol Med. 2007. PMID: 17671735

8

[The effects of auditory research on clinical practice].

Sziklai I, Tóth T, Zimmermann U. Sziklai I, et al. HNO. 2003 Jun;51(6):456-61. doi: 10.1007/s00106-003-0851-9. Epub 2003 Apr 18. HNO. 2003. PMID: 12835843 Review. German.

9

A 4-bp insertion in the eya-homologous region (eyaHR) of EYA4 causes hearing impairment in a Hungarian family linked to DFNA10.

Pfister M, Tóth T, Thiele H, Haack B, Blin N, Zenner HP, Sziklai I, Nürnberg P, Kupka S. Pfister M, et al. Among authors: sziklai i. Mol Med. 2002 Oct;8(10):607-11. Mol Med. 2002. PMID: 12477971 Free PMC article.

10

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

Snoeckx RL, Huygen PL, 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 HH, 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, Van Maldergem L, Hilbert P, Roux AF, Mondain M, Hoefsloot LH, Cremers CW, Löppönen T, Löppönen 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 RJ, Van Camp G. Snoeckx RL, et al. Among authors: sziklai i. Am J Hum Genet. 2005 Dec;77(6):945-57. doi: 10.1086/497996. Epub 2005 Oct 19. Am J Hum Genet. 2005. PMID: 16380907 Free PMC article.

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