Pfister M - Search Results

1

Comprehensive molecular analysis of 61 Egyptian families with hereditary nonsyndromic hearing loss.

Budde BS, Aly MA, Mohamed MR, Breß A, Altmüller J, Motameny S, Kawalia A, Thiele H, Konrad K, Becker C, Toliat MR, Nürnberg G, Sayed EAF, Mohamed ES, Pfister M, Nürnberg P. Budde BS, et al. Among authors: pfister m. Clin Genet. 2020 Jul;98(1):32-42. doi: 10.1111/cge.13754. Epub 2020 Apr 23. Clin Genet. 2020. PMID: 32279305

2

Functional analysis of a novel I71N mutation in the GJB2 gene among Southern Egyptians causing autosomal recessive hearing loss.

Mohamed MR, Alesutan I, Föller M, Sopjani M, Bress A, Baur M, Salama RH, Bakr MS, Mohamed MA, Blin N, Lang F, Pfister M. Mohamed MR, et al. Among authors: pfister m. Cell Physiol Biochem. 2010;26(6):959-66. doi: 10.1159/000324004. Epub 2011 Jan 4. Cell Physiol Biochem. 2010. PMID: 21220926 Free article.

3

A TMC1 (transmembrane channel-like 1) mutation (p.S320R) in a Polish family with hearing impairment.

Hassan MA, Shah AA, Szmida E, Smigiel R, Sasiadek MM, Pfister M, Blin N, Bress A. Hassan MA, et al. Among authors: pfister m. J Appl Genet. 2015 Aug;56(3):311-6. doi: 10.1007/s13353-014-0263-4. Epub 2015 Jan 6. J Appl Genet. 2015. PMID: 25560804

4

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.

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

6

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: pfister m. Hum Genet. 2002 May;110(5):389-94. doi: 10.1007/s00439-002-0719-1. Epub 2002 Apr 9. Hum Genet. 2002. PMID: 12073007

7

Rare variants in BMP2 and BMP4 found in otosclerosis patients reduce Smad signaling.

Ealy M, Meyer NC, Corchado JC, Schrauwen I, Bress A, Pfister M, Van Camp G, Smith RJ. Ealy M, et al. Among authors: pfister m. Otol Neurotol. 2014 Mar;35(3):395-400. doi: 10.1097/MAO.0000000000000244. Otol Neurotol. 2014. PMID: 24492129 Free PMC article.

8

[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: pfister m. HNO. 2004 Feb;52(2):132-6. doi: 10.1007/s00106-003-0912-0. HNO. 2004. PMID: 14968315 German.

9

Temporal expression pattern of Fkbp8 in rodent cochlea.

Zak M, Bress A, Pfister M, Blin N. Zak M, et al. Among authors: pfister m. Cell Physiol Biochem. 2011;28(5):1023-30. doi: 10.1159/000335789. Epub 2011 Dec 15. Cell Physiol Biochem. 2011. PMID: 22178952 Free article.

10

Rab8b GTPase, a protein transport regulator, is an interacting partner of otoferlin, defective in a human autosomal recessive deafness form.

Heidrych P, Zimmermann U, Bress A, Pusch CM, Ruth P, Pfister M, Knipper M, Blin N. Heidrych P, et al. Among authors: pfister m. Hum Mol Genet. 2008 Dec 1;17(23):3814-21. doi: 10.1093/hmg/ddn279. Epub 2008 Sep 4. Hum Mol Genet. 2008. PMID: 18772196

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