Kupka S - Search Results

1

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: kupka s. 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

2

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

3

Mutations in the WFS1 gene that cause low-frequency sensorineural hearing loss are small non-inactivating mutations.

Cryns K, Pfister M, Pennings RJ, Bom SJ, Flothmann K, Caethoven G, Kremer H, Schatteman I, Köln KA, Tóth T, Kupka S, Blin N, Nürnberg P, Thiele H, van de Heyning PH, Reardon W, Stephens D, Cremers CW, Smith RJ, Van Camp G. Cryns K, et al. Among authors: kupka s. Hum Genet. 2002 May;110(5):389-94. doi: 10.1007/s00439-002-0719-1. Epub 2002 Apr 9. Hum Genet. 2002. PMID: 12073007

4

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: kupka s. Cancer Genet Cytogenet. 2004 Apr 15;150(2):128-35. doi: 10.1016/j.cancergencyto.2003.10.013. Cancer Genet Cytogenet. 2004. PMID: 15066320

5

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: kupka s. Cell Physiol Biochem. 2004;14(4-6):369-76. doi: 10.1159/000080347. Cell Physiol Biochem. 2004. PMID: 15319541

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: kupka s. Neurobiol Dis. 2002 Jul;10(2):157-64. doi: 10.1006/nbdi.2002.0488. Neurobiol Dis. 2002. PMID: 12127154

7

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

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

8

[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. HNO. 2004 Nov;52(11):968-72. doi: 10.1007/s00106-003-0994-8. HNO. 2004. PMID: 15309320 Clinical Trial. German.

9

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

10

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

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