Pfister M - Search Results

1

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

2

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: pfister m. Hum Mutat. 2002 Mar;19(3):308-9. doi: 10.1002/humu.9017. Hum Mutat. 2002. PMID: 11857751

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

4

A genotype-phenotype correlation with gender-effect for hearing impairment caused by TECTA mutations.

Pfister M, Thiele H, Van Camp G, Fransen E, Apaydin F, Aydin O, Leistenschneider P, Devoto M, Zenner HP, Blin N, Nürnberg P, Ozkarakas H, Kupka S. Pfister M, et al. Cell Physiol Biochem. 2004;14(4-6):369-76. doi: 10.1159/000080347. Cell Physiol Biochem. 2004. PMID: 15319541

5

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

6

Refinement of the DFNA4 locus to a 1.44 Mb region in 19q13.33.

Pusch CM, Meyer B, Kupka S, Smith RJ, Lalwani AK, Zenner HP, Blin N, Nürnberg P, Pfister M. Pusch CM, et al. Among authors: pfister m. J Mol Med (Berl). 2004 Jun;82(6):398-402. doi: 10.1007/s00109-004-0538-z. Epub 2004 Mar 24. J Mol Med (Berl). 2004. PMID: 15042303

7

Second family with hearing impairment linked to 19q13 and refined DFNA4 localisation.

Mirghomizadeh F, Bardtke B, Devoto M, Pfister M, Oeken J, König E, Vitale E, Riccio A, De Rienzo A, Zenner HP, Blin N. Mirghomizadeh F, et al. Among authors: pfister m. Eur J Hum Genet. 2002 Feb;10(2):95-9. doi: 10.1038/sj.ejhg.5200769. Eur J Hum Genet. 2002. PMID: 11938438

8

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: pfister m. Hum Mutat. 2002 Jul;20(1):77-8. doi: 10.1002/humu.9044. Hum Mutat. 2002. PMID: 12112666

9

Uncommon cytidine-homopolymer dimorphism in 5'-UTR of the human otoferlin gene.

Mirghomizadeh F, Pfister M, Blin N, Pusch CM. Mirghomizadeh F, et al. Among authors: pfister m. Int J Mol Med. 2003 Jan;11(1):63-4. Int J Mol Med. 2003. PMID: 12469219

10

Chromosome 11 monosomy in conjunction with a mutated SDHD initiation codon in nonfamilial paraganglioma cases.

Riemann K, Sotlar K, Kupka S, Braun S, Zenner HP, Preyer S, Pfister M, Pusch CM, Blin N. Riemann K, et al. Among authors: pfister m. Cancer Genet Cytogenet. 2004 Apr 15;150(2):128-35. doi: 10.1016/j.cancergencyto.2003.10.013. Cancer Genet Cytogenet. 2004. PMID: 15066320

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