Pfister M - Search Results

1

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

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

3

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

4

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: pfister m. 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

5

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. Genomics. 1998 Nov 1;53(3):377-82. doi: 10.1006/geno.1998.5538. Genomics. 1998. PMID: 9799605

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

7

[Clinical and molecular genetic analysis of monozygotic twins displaying stapes gusher syndrome (DFN3)].

Oh N, Kupka S, Mirghomizadeh F, Arold R, Zimmermann R, Blin N, Zenner HP, Pfister M. Oh N, et al. Among authors: pfister m. HNO. 2003 Aug;51(8):629-33. doi: 10.1007/s00106-002-0777-7. Epub 2003 Apr 11. HNO. 2003. PMID: 12942177 German.

8

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

9

A second middle eastern kindred with autosomal recessive non-syndromic hearing loss segregates DFNB9.

Leal SM, Apaydin F, Barnwell C, Iber M, Kandogan T, Pfister M, Braendle U, Cura O, Schwalb M, Zenner HP, Vitale E. Leal SM, et al. Among authors: pfister m. Eur J Hum Genet. 1998 Jul-Aug;6(4):341-4. doi: 10.1038/sj.ejhg.5200201. Eur J Hum Genet. 1998. PMID: 9781041 Free PMC article.

10

Nonmuscle myosin heavy-chain gene MYH14 is expressed in cochlea and mutated in patients affected by autosomal dominant hearing impairment (DFNA4).

Donaudy F, Snoeckx R, Pfister M, Zenner HP, Blin N, Di Stazio M, Ferrara A, Lanzara C, Ficarella R, Declau F, Pusch CM, Nürnberg P, Melchionda S, Zelante L, Ballana E, Estivill X, Van Camp G, Gasparini P, Savoia A. Donaudy F, et al. Among authors: pfister m. Am J Hum Genet. 2004 Apr;74(4):770-6. doi: 10.1086/383285. Epub 2004 Mar 10. Am J Hum Genet. 2004. PMID: 15015131 Free PMC article.

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