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Results: 1 to 20 of 23

1.

Screening mutations of OTOF gene in Chinese patients with auditory neuropathy, including a familial case of temperature-sensitive auditory neuropathy.

Wang DY, Wang YC, Weil D, Zhao YL, Rao SQ, Zong L, Ji YB, Liu Q, Li JQ, Yang HM, Shen Y, Benedict-Alderfer C, Zheng QY, Petit C, Wang QJ.

BMC Med Genet. 2010 May 26;11:79. doi: 10.1186/1471-2350-11-79.

PMID:
20504331
[PubMed - indexed for MEDLINE]
Free PMC Article
2.

Temperature-sensitive auditory neuropathy associated with an otoferlin mutation: Deafening fever!

Marlin S, Feldmann D, Nguyen Y, Rouillon I, Loundon N, Jonard L, Bonnet C, Couderc R, Garabedian EN, Petit C, Denoyelle F.

Biochem Biophys Res Commun. 2010 Apr 9;394(3):737-42. doi: 10.1016/j.bbrc.2010.03.062. Epub 2010 Mar 16.

PMID:
20230791
[PubMed - indexed for MEDLINE]
3.

Mutations in the OTOF gene in Taiwanese patients with auditory neuropathy.

Chiu YH, Wu CC, Lu YC, Chen PJ, Lee WY, Liu AY, Hsu CJ.

Audiol Neurootol. 2010;15(6):364-74. doi: 10.1159/000293992. Epub 2010 Mar 11.

PMID:
20224275
[PubMed - indexed for MEDLINE]
4.

Five new OTOF gene mutations and auditory neuropathy.

Zadro C, Ciorba A, Fabris A, Morgutti M, Trevisi P, Gasparini P, Martini A.

Int J Pediatr Otorhinolaryngol. 2010 May;74(5):494-8. doi: 10.1016/j.ijporl.2010.02.004. Epub 2010 Mar 7.

PMID:
20211493
[PubMed - indexed for MEDLINE]
5.

Abnormal cochlear potentials from deaf patients with mutations in the otoferlin gene.

Santarelli R, Del Castillo I, Rodríguez-Ballesteros M, Scimemi P, Cama E, Arslan E, Starr A.

J Assoc Res Otolaryngol. 2009 Dec;10(4):545-56. doi: 10.1007/s10162-009-0181-z. Epub 2009 Jul 28.

PMID:
19636622
[PubMed - indexed for MEDLINE]
Free PMC Article
6.

Novel OTOF mutations in Brazilian patients with auditory neuropathy.

Romanos J, Kimura L, Fávero ML, Izarra FA, de Mello Auricchio MT, Batissoco AC, Lezirovitz K, Abreu-Silva RS, Mingroni-Netto RC.

J Hum Genet. 2009 Jul;54(7):382-5. doi: 10.1038/jhg.2009.45. Epub 2009 May 22.

PMID:
19461658
[PubMed - indexed for MEDLINE]
7.

Identities and frequencies of mutations of the otoferlin gene (OTOF) causing DFNB9 deafness in Pakistan.

Choi BY, Ahmed ZM, Riazuddin S, Bhinder MA, Shahzad M, Husnain T, Riazuddin S, Griffith AJ, Friedman TB.

Clin Genet. 2009 Mar;75(3):237-43. doi: 10.1111/j.1399-0004.2008.01128.x.

PMID:
19250381
[PubMed - indexed for MEDLINE]
Free PMC Article
8.

Direct interaction of otoferlin with syntaxin 1A, SNAP-25, and the L-type voltage-gated calcium channel Cav1.3.

Ramakrishnan NA, Drescher MJ, Drescher DG.

J Biol Chem. 2009 Jan 16;284(3):1364-72. doi: 10.1074/jbc.M803605200. Epub 2008 Nov 12.

PMID:
19004828
[PubMed - indexed for MEDLINE]
Free PMC Article
9.

A multicenter study on the prevalence and spectrum of mutations in the otoferlin gene (OTOF) in subjects with nonsyndromic hearing impairment and auditory neuropathy.

Rodríguez-Ballesteros M, Reynoso R, Olarte M, Villamar M, Morera C, Santarelli R, Arslan E, Medá C, Curet C, Völter C, Sainz-Quevedo M, Castorina P, Ambrosetti U, Berrettini S, Frei K, Tedín S, Smith J, Cruz Tapia M, Cavallé L, Gelvez N, Primignani P, Gómez-Rosas E, Martín M, Moreno-Pelayo MA, Tamayo M, Moreno-Barral J, Moreno F, del Castillo I.

Hum Mutat. 2008 Jun;29(6):823-31. doi: 10.1002/humu.20708.

PMID:
18381613
[PubMed - indexed for MEDLINE]
10.

Otoferlin, defective in a human deafness form, is essential for exocytosis at the auditory ribbon synapse.

Roux I, Safieddine S, Nouvian R, Grati M, Simmler MC, Bahloul A, Perfettini I, Le Gall M, Rostaing P, Hamard G, Triller A, Avan P, Moser T, Petit C.

Cell. 2006 Oct 20;127(2):277-89.

PMID:
17055430
[PubMed - indexed for MEDLINE]
Free Article
11.

OTOF mutations revealed by genetic analysis of hearing loss families including a potential temperature sensitive auditory neuropathy allele.

Varga R, Avenarius MR, Kelley PM, Keats BJ, Berlin CI, Hood LJ, Morlet TG, Brashears SM, Starr A, Cohn ES, Smith RJ, Kimberling WJ.

J Med Genet. 2006 Jul;43(7):576-81. Epub 2005 Dec 21.

PMID:
16371502
[PubMed - indexed for MEDLINE]
Free PMC Article
12.

Auditory neuropathy in patients carrying mutations in the otoferlin gene (OTOF).

Rodríguez-Ballesteros M, del Castillo FJ, Martín Y, Moreno-Pelayo MA, Morera C, Prieto F, Marco J, Morant A, Gallo-Terán J, Morales-Angulo C, Navas C, Trinidad G, Tapia MC, Moreno F, del Castillo I.

Hum Mutat. 2003 Dec;22(6):451-6.

PMID:
14635104
[PubMed - indexed for MEDLINE]
13.

Characterization of the interaction of the stress kinase SPAK with the Na+-K+-2Cl- cotransporter in the nervous system: evidence for a scaffolding role of the kinase.

Piechotta K, Garbarini N, England R, Delpire E.

J Biol Chem. 2003 Dec 26;278(52):52848-56. Epub 2003 Oct 16.

PMID:
14563843
[PubMed - indexed for MEDLINE]
Free Article
14.

Non-syndromic recessive auditory neuropathy is the result of mutations in the otoferlin (OTOF) gene.

Varga R, Kelley PM, Keats BJ, Starr A, Leal SM, Cohn E, Kimberling WJ.

J Med Genet. 2003 Jan;40(1):45-50. No abstract available.

PMID:
12525542
[PubMed - indexed for MEDLINE]
Free PMC Article
15.

Uncommon cytidine-homopolymer dimorphism in 5'-UTR of the human otoferlin gene.

Mirghomizadeh F, Pfister M, Blin N, Pusch CM.

Int J Mol Med. 2003 Jan;11(1):63-4.

PMID:
12469219
[PubMed - indexed for MEDLINE]
16.

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.

Neurobiol Dis. 2002 Jul;10(2):157-64.

PMID:
12127154
[PubMed - indexed for MEDLINE]
17.

Q829X, a novel mutation in the gene encoding otoferlin (OTOF), is frequently found in Spanish patients with prelingual non-syndromic hearing loss.

Migliosi V, Modamio-Høybjør S, Moreno-Pelayo MA, Rodríguez-Ballesteros M, Villamar M, Tellería D, Menéndez I, Moreno F, Del Castillo I.

J Med Genet. 2002 Jul;39(7):502-6. No abstract available.

PMID:
12114484
[PubMed - indexed for MEDLINE]
Free PMC Article
18.

OTOF encodes multiple long and short isoforms: genetic evidence that the long ones underlie recessive deafness DFNB9.

Yasunaga S, Grati M, Chardenoux S, Smith TN, Friedman TB, Lalwani AK, Wilcox ER, Petit C.

Am J Hum Genet. 2000 Sep;67(3):591-600. Epub 2000 Jul 19.

PMID:
10903124
[PubMed - indexed for MEDLINE]
Free PMC Article
19.
20.

Physical map of the region surrounding the OTOFERLIN locus on chromosome 2p22-p23.

Yasunaga S, Petit C.

Genomics. 2000 May 15;66(1):110-2.

PMID:
10843812
[PubMed - indexed for MEDLINE]

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