Mutations in the gene encoding pejvakin, a newly identified protein of the afferent auditory pathway, cause DFNB59 auditory neuropathy (Q28594398)

12

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Christine Petit

14

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Guy Van Camp

9

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Michel Leibovici

4

Michel Leibovici

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Asadollah Aghaie

Asadollah Aghaie

5

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Paul Avan

Paul Avan

13

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Nir Ben-Tal

Nir Ben-Tal

8

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Sedigheh Delmaghani

Sedigheh Delmaghani

1

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Dominique Weil

10

Dominique Weil

1 reference

31 January 2017

Francisco J. del Castillo

2

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31 January 2017

Vincent Michel

3

1 reference

31 January 2017

Michel Leibovici

4

1 reference

31 January 2017

Uri Ron

6

1 reference

31 January 2017

Lut Van Laer

7

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31 January 2017

Francina Langa

Auditory system development: primary auditory neurons and their targets

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31 January 2017

language of work or name

English

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publication date

1 July 2006

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31 January 2017

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31 January 2017

38

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31 January 2017

7

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31 January 2017

770–778

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31 January 2017

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Modification of tonotopic representation in the auditory system during development

21 January 2018

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Otoacoustic emissions, their origin in cochlear function, and use.

21 January 2018

1 reference

21 January 2018

1 reference

The varieties of auditory neuropathy.

21 January 2018

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A new locus for autosomal recessive non-syndromal sensorineural hearing impairment (DFNB27) on chromosome 2q23-q31.

21 January 2018

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Nonsyndromic hearing impairment is associated with a mutation in DFNA5

21 January 2018

1 reference

The dominant alopecia phenotypes Bareskin, Rex-denuded, and Reduced Coat 2 are caused by mutations in gasdermin 3

21 January 2018

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Mutations in gasdermin 3 cause aberrant differentiation of the hair follicle and sebaceous gland

21 January 2018

1 reference

ConSeq: the identification of functionally and structurally important residues in protein sequences.

21 January 2018

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Assessment of hearing in 80 inbred strains of mice by ABR threshold analyses

21 January 2018

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Mice lacking Dfna5 show a diverging number of cochlear fourth row outer hair cells

21 January 2018

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Are inner or outer hair cells the source of summating potentials recorded from the round window?

21 January 2018

1 reference

The role of timing in the brain stem auditory nuclei of vertebrates

21 January 2018

1 reference

"Auditory neuropathy": physiologic and pathologic evidence calls for more diagnostic specificity

21 January 2018

1 reference

A mutation in OTOF, encoding otoferlin, a FER-1-like protein, causes DFNB9, a nonsyndromic form of deafness

21 January 2018

1 reference

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

21 January 2018

1 reference

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

21 January 2018

1 reference

Faster linkage analysis computations for pedigrees with loops or unused alleles.

21 January 2018

1 reference

Otogelin: a glycoprotein specific to the acellular membranes of the inner ear

21 January 2018

1 reference

SMART 4.0: towards genomic data integration

21 January 2018

1 reference

Finding nuclear localization signals

21 January 2018

1 reference

BLAT—The BLAST-Like Alignment Tool

21 January 2018

1 reference

MUSCLE: a multiple sequence alignment method with reduced time and space complexity

21 January 2018

1 reference

A Simple, Fast, and Accurate Algorithm to Estimate Large Phylogenies by Maximum Likelihood

21 January 2018

1 reference

A highly efficient Escherichia coli-based chromosome engineering system adapted for recombinogenic targeting and subcloning of BAC DNA

21 January 2018

1 reference

A highly efficient recombineering-based method for generating conditional knockout mutations

21 January 2018

1 reference

Nonpermissiveness for mouse embryonic stem (ES) cell derivation circumvented by a single backcross to 129/Sv strain: establishment of ES cell lines bearing the Omd conditional lethal mutation.

21 January 2018

1 reference

Maternally expressed PGK-Cre transgene as a tool for early and uniform activation of the Cre site-specific recombinase.

21 January 2018

1 reference

Vezatin, a novel transmembrane protein, bridges myosin VIIA to the cadherin-catenins complex

21 January 2018

1 reference

Interactions in the network of Usher syndrome type 1 proteins

21 January 2018

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Single-neuron labeling in the cat auditory nerve

21 January 2018

1 reference

inferred from DOI database lookup

7 January 2021

based on heuristic

Auditory neuropathy/dys-synchrony and its perceptual consequences.

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