Blin N - Search Results

1

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: blin n. 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

2

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: blin n. 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.

3

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

4

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

5

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: blin n. 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

6

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

7

High frequency of ENG and ALK1/ACVRL1 mutations in German HHT patients.

Schulte C, Geisthoff U, Lux A, Kupka S, Zenner HP, Blin N, Pfister M. Schulte C, et al. Among authors: blin n. Hum Mutat. 2005 Jun;25(6):595. doi: 10.1002/humu.9345. Hum Mutat. 2005. PMID: 15880681

8

Otoferlin interacts with myosin VI: implications for maintenance of the basolateral synaptic structure of the inner hair cell.

Heidrych P, Zimmermann U, Kuhn S, Franz C, Engel J, Duncker SV, Hirt B, Pusch CM, Ruth P, Pfister M, Marcotti W, Blin N, Knipper M. Heidrych P, et al. Among authors: blin n. Hum Mol Genet. 2009 Aug 1;18(15):2779-90. doi: 10.1093/hmg/ddp213. Epub 2009 May 5. Hum Mol Genet. 2009. PMID: 19417007

9

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: blin n. 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

10

[An attempt to identify the most frequent genomic mutations responsible for isolated deafness in patients after cochlear implantation].

Szyfter W, Pruszewicz A, Zenner HP, Pfister M, Szyfter K, Blin N, Wróbel M, Łaczkowska J, Gawlak A, Kupka S, Sekula A. Szyfter W, et al. Among authors: blin n. Otolaryngol Pol. 2001;55(1):79-84. Otolaryngol Pol. 2001. PMID: 11355484 Polish.

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