Zenner HP - 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. Among authors: zenner hp. 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: zenner hp. 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: zenner hp. 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. Among authors: zenner hp. Cell Physiol Biochem. 2004;14(4-6):369-76. doi: 10.1159/000080347. Cell Physiol Biochem. 2004. PMID: 15319541

5

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

6

Substitutions in the conserved C2C domain of otoferlin cause DFNB9, a form of nonsyndromic autosomal recessive deafness.

Mirghomizadeh F, Pfister M, Apaydin F, Petit C, Kupka S, Pusch CM, Zenner HP, Blin N. Mirghomizadeh F, et al. Among authors: zenner hp. Neurobiol Dis. 2002 Jul;10(2):157-64. doi: 10.1006/nbdi.2002.0488. Neurobiol Dis. 2002. PMID: 12127154

7

[Mitochondrial A1555G mutation. Molecular genetic diagnosis in sporadic cases of non-syndromic hearing impairment].

Kupka S, Bodden-Kamps B, Baur M, Zenner HP, Pfister M. Kupka S, et al. Among authors: zenner hp. HNO. 2004 Nov;52(11):968-72. doi: 10.1007/s00106-003-0994-8. HNO. 2004. PMID: 15309320 Clinical Trial. German.

8

A second family with nonsyndromic sensorineural hearing loss linked to Xp21.2: refinement of the DFN4 locus within DMD.

Pfister MH, Apaydin F, Turan O, Bereketoglu M, Bylgen V, Braendle U, Zenner HP, Lalwani AK. Pfister MH, et al. Among authors: zenner hp. Genomics. 1998 Nov 1;53(3):377-82. doi: 10.1006/geno.1998.5538. Genomics. 1998. PMID: 9799605

9

Genetic heterogeneity of deafness phenotypes linked to DFNA4.

Yang T, Pfister M, Blin N, Zenner HP, Pusch CM, Smith RJ. Yang T, et al. Among authors: zenner hp. Am J Med Genet A. 2005 Nov 15;139(1):9-12. doi: 10.1002/ajmg.a.30989. Am J Med Genet A. 2005. PMID: 16222661

10

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: zenner hp. Eur J Hum Genet. 2002 Feb;10(2):95-9. doi: 10.1038/sj.ejhg.5200769. Eur J Hum Genet. 2002. PMID: 11938438

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