Blin N - Search Results

1

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: blin n. Int J Mol Med. 2001 Aug;8(2):189-92. Int J Mol Med. 2001. PMID: 11445873

2

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: blin n. Hum Mutat. 2004 Jun;23(6):631-2. doi: 10.1002/humu.9250. Hum Mutat. 2004. PMID: 15146474

3

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: blin n. Int J Mol Med. 2007 Sep;20(3):315-21. Int J Mol Med. 2007. PMID: 17671735

4

[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: blin n. HNO. 2003 May;51(5):400-4. doi: 10.1007/s00106-002-0737-2. Epub 2003 Mar 27. HNO. 2003. PMID: 12835856 German.

5

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: blin n. Mol Med. 2002 Oct;8(10):607-11. Mol Med. 2002. PMID: 12477971 Free PMC article.

6

Mutation A1555G in the 12S rRNA gene and its epidemiological importance in German, Hungarian, and Polish patients.

Kupka S, Tóth T, Wróbel M, Zeissler U, Szyfter W, Szyfter K, Niedzielska G, Bal J, Zenner HP, Sziklai I, Blin N, Pfister M. Kupka S, et al. Among authors: blin n. Hum Mutat. 2002 Mar;19(3):308-9. doi: 10.1002/humu.9017. Hum Mutat. 2002. PMID: 11857751

7

Frequencies of GJB2 mutations in German control individuals and patients showing sporadic non-syndromic hearing impairment.

Kupka S, Braun S, Aberle S, Haack B, Ebauer M, Zeissler U, Zenner HP, Blin N, Pfister M. Kupka S, et al. Among authors: blin n. Hum Mutat. 2002 Jul;20(1):77-8. doi: 10.1002/humu.9044. Hum Mutat. 2002. PMID: 12112666

8

[Mutational analysis of the connexin26 gene in sporadic cases of moderate to profound deafness].

Kupka S, Mirghomizadeh F, Haug T, Braun S, Leistenschneider P, Schmitz-Salue C, Arold R, Blin N, Zenner HP, Pfister M. Kupka S, et al. Among authors: blin n. HNO. 2000 Sep;48(9):671-4. doi: 10.1007/s001060050637. HNO. 2000. PMID: 11056855 German.

9

[Mitochondrial hearing impairment. Background, genetic predisposition and possibilities for diagnosis].

Riemann K, Pfister M, Blin N, Kupka S. Riemann K, et al. Among authors: blin n. HNO. 2004 Jun;52(6):503-9. doi: 10.1007/s00106-003-0993-9. HNO. 2004. PMID: 15241512 Review. German.

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: blin n. 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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