(Q28274777)

English

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

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scholarly article

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

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multicenter clinical trial

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Nancy Yaneth Gelvez

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Nancy Gelvez

20

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Martalucía Tamayo

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Martalucía Tamayo

25

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Manuela Villamar

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Manuela Villamar

4

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Umberto Ambrosetti

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Umberto Ambrosetti

13

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Ignacio del Castillo

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Ignacio del Castillo

28

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author name string

Montserrat Rodríguez-Ballesteros

1

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Raúl Reynoso

2

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Margarita Olarte

3

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Constantino Morera

5

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Rosamaria Santarelli

6

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Edoardo Arslan

7

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Carme Medá

8

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Carlos Curet

9

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Christiane Völter

10

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Manuel Sainz-Quevedo

11

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Pierangela Castorina

12

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Stefano Berrettini

14

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Klemens Frei

15

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Socorro Tedín

16

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Janine Smith

17

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M Cruz Tapia

18

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Laura Cavallé

19

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Paola Primignani

21

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Elena Gómez-Rosas

22

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Mirta Martín

23

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Miguel A Moreno-Pelayo

24

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José Moreno-Barral

26

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Felipe Moreno

27

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language of work or name

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publication date

June 2008

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29

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6

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823-31

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The varieties of auditory neuropathy.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20708

21 January 2018

Deafness heterogeneity in a Druze isolate from the Middle East: novel OTOF and PDS mutations, low prevalence of GJB2 35delG mutation and indication for a new DFNB locus

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20708

7 January 2021

based on heuristic

inferred from DOI database lookup

High prevalence of theW24X mutation in the gene encoding connexin-26 (GJB2) in Spanish Romani (gypsies) with autosomal recessive non-syndromic hearing loss

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20708

7 January 2021

based on heuristic

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Prevalence and evolutionary origins of the del(GJB6-D13S1830) mutation in the DFNB1 locus in hearing-impaired subjects: a multicenter study

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20708

7 January 2021

based on heuristic

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A novel deletion involving the connexin-30 gene, del(GJB6-d13s1854), found in trans with mutations in the GJB2 gene (connexin-26) in subjects with DFNB1 non-syndromic hearing impairment.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20708

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20708

7 January 2021

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A comprehensive genetic map of the human genome based on 5,264 microsatellites

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20708

7 January 2021

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Human Nonsyndromic Sensorineural Deafness

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20708

7 January 2021

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A novel mutation in a family with non-syndromic sensorineural hearing loss that disrupts the newly characterised OTOF long isoforms

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20708

7 January 2021

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Assessment of the genetic causes of recessive childhood non-syndromic deafness in the UK - implications for genetic testing

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20708

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20708

7 January 2021

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GJB2 (connexin 26) variants and nonsyndromic sensorineural hearing loss: a HuGE review

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20708

7 January 2021

based on heuristic

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A gene responsible for autosomal dominant auditory neuropathy (AUNA1) maps to 13q14-21.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20708

7 January 2021

based on heuristic

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The Colorado newborn hearing screening project, 1992-1999: on the threshold of effective population-based universal newborn hearing screening

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20708

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20708

7 January 2021

based on heuristic

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Substitutions in the conserved C2C domain of otoferlin cause DFNB9, a form of nonsyndromic autosomal recessive deafness

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20708

7 January 2021

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Genetic epidemiology of hearing impairment

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https://api.crossref.org/works/10.1002%2FHUMU.20708

7 January 2021

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Non-syndromic, autosomal-recessive deafness

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20708

7 January 2021

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Molecular genetics of hearing loss

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20708

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20708

7 January 2021

based on heuristic

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C2-domains, structure and function of a universal Ca2+-binding domain

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20708

7 January 2021

based on heuristic

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20708

7 January 2021

based on heuristic

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Results of cochlear implantation in two children with mutations in the OTOF gene.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20708

7 January 2021

based on heuristic

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20708

7 January 2021

based on heuristic

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A forward genetics screen in mice identifies recessive deafness traits and reveals that pejvakin is essential for outer hair cell function

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20708

7 January 2021

based on heuristic

inferred from DOI database lookup

Auditory neuropathy

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20708

7 January 2021

based on heuristic

inferred from DOI database lookup

A novel missense mutation in a C2 domain of OTOF results in autosomal recessive auditory neuropathy.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20708

7 January 2021

based on heuristic

inferred from DOI database lookup

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20708

7 January 2021

based on heuristic

inferred from DOI database lookup

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20708

7 January 2021

based on heuristic

inferred from DOI database lookup

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20708

7 January 2021

based on heuristic

inferred from DOI database lookup

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20708

7 January 2021

based on heuristic

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Identifiers

10.1002/HUMU.20708

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Consolidated OpenCitations Corpus – April 2017

OpenCitations bibliographic resource ID

OpenCitations bibliographic resource ID

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Consolidated OpenCitations Corpus – April 2017

OpenCitations bibliographic resource ID

PubMed publication ID

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Consolidated OpenCitations Corpus – April 2017

OpenCitations bibliographic resource ID

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