DFNA8/12 caused by TECTA mutations is the most identified subtype of nonsyndromic autosomal dominant hearing loss. (Q35889891)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21520338%20AND%20SRC:MED&resulttype=core&format=json

29 January 2020

title

DFNA8/12 caused by TECTA mutations is the most identified subtype of nonsyndromic autosomal dominant hearing loss (English)

1 reference

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29 January 2020

1 reference

Michael S. Hildebrand

1

1 reference

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29 January 2020

Matías Morín

2

1 reference

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29 January 2020

Carmelo Morales-Angulo

8

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29 January 2020

Adam P. DeLuca

11

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29 January 2020

Ignacio del Castillo

12

1 reference

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29 January 2020

Isabelle Schrauwen

16

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29 January 2020

Katherine L Lachlan

18

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29 January 2020

Guy Van Camp

23

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29 January 2020

Richard J Smith

26

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29 January 2020

22

Hannie Kremer

1 reference

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29 January 2020

author name string

Nicole C Meyer

3

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29 January 2020

Silvia Modamio-Hoybjor

5

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29 January 2020

Angeles Mencía

6

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29 January 2020

Leticia Olavarrieta

7

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29 January 2020

Carla J Nishimura

9

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29 January 2020

Heather Workman

10

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29 January 2020

Kyle R Taylor

13

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29 January 2020

Bruce Tompkins

14

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29 January 2020

Corey W Goodman

15

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29 January 2020

Maarten Van Wesemael

17

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29 January 2020

A Eliot Shearer

19

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29 January 2020

Terry A Braun

20

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29 January 2020

Patrick L M Huygen

21

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29 January 2020

Felipe Moreno

24

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29 January 2020

Thomas L Casavant

25

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29 January 2020

Miguel A Moreno-Pelayo

27

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29 January 2020

Fernando Mayo

4

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29 January 2020

publication date

7 June 2011

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29 January 2020

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29 January 2020

volume

32

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29 January 2020

issue

7

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29 January 2020

page(s)

825-834

1 reference

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Autosomal dominant progressive sensorineural hearing loss due to a novel mutation in the KCNQ4 gene.

29 January 2020

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Comprehensive genetic testing for hereditary hearing loss using massively parallel sequencing.

11 July 2018

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High-throughput detection of mutations responsible for childhood hearing loss using resequencing microarrays

11 July 2018

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Deficient forward transduction and enhanced reverse transduction in the alpha tectorin C1509G human hearing loss mutation

11 July 2018

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A contemporary review of AudioGene audioprofiling: a machine-based candidate gene prediction tool for autosomal dominant nonsyndromic hearing loss.

11 July 2018

1 reference

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In vivo and in vitro effects of two novel gamma-actin (ACTG1) mutations that cause DFNA20/26 hearing impairment

11 July 2018

1 reference

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Mutations in the seed region of human miR-96 are responsible for nonsyndromic progressive hearing loss.

11 July 2018

1 reference

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Audioprofile-directed screening identifies novel mutations in KCNQ4 causing hearing loss at the DFNA2 locus.

11 July 2018

1 reference

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Histopathology of nonsyndromic autosomal dominant midfrequency sensorineural hearing loss

11 July 2018

1 reference

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Characterization of a spontaneous, recessive, missense mutation arising in the Tecta gene

11 July 2018

1 reference

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Audioprofiling identifies TECTA and GJB2-related deafness segregating in a single extended pedigree.

11 July 2018

1 reference

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An increased specificity score matrix for the prediction of SF2/ASF-specific exonic splicing enhancers

11 July 2018

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A novel TECTA mutation in a Dutch DFNA8/12 family confirms genotype-phenotype correlation

11 July 2018

1 reference

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A deafness mutation isolates a second role for the tectorial membrane in hearing

11 July 2018

1 reference

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Sensorineural hearing loss in children.

11 July 2018

1 reference

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A genotype-phenotype correlation with gender-effect for hearing impairment caused by TECTA mutations

11 July 2018

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ESEfinder: A web resource to identify exonic splicing enhancers

11 July 2018

1 reference

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Clinical presentation of the DFNA loci where causative genes have not yet been cloned. DFNA4, DFNA6/14, DFNA7, DFNA16, DFNA20 and DFNA21.

11 July 2018

1 reference

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Association of clinical features with mutation of TECTA in a family with autosomal dominant hearing loss

11 July 2018

1 reference

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Mutations in the Wolfram syndrome 1 gene (WFS1) are a common cause of low frequency sensorineural hearing loss

11 July 2018

1 reference

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A cysteine substitution in the zona pellucida domain of alpha-tectorin results in autosomal dominant, postlingual, progressive, mid frequency hearing loss in a Spanish family

11 July 2018

1 reference

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Alpha-tectorin involvement in hearing disabilities: one gene--two phenotypes

11 July 2018

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Mutations in COL11A2 cause non-syndromic hearing loss (DFNA13)

11 July 2018

1 reference

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Novel mutation in the KCNQ4 gene in a large kindred with dominant progressive hearing loss

11 July 2018

1 reference

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Mutations in the KCNQ4 gene are responsible for autosomal dominant deafness in four DFNA2 families.

11 July 2018

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Mutation in the zonadhesin-like domain of alpha-tectorin associated with autosomal dominant non-syndromic hearing loss.

11 July 2018

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Tectorin mRNA expression is spatially and temporally restricted during mouse inner ear development

11 July 2018

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Mutations in the human alpha-tectorin gene cause autosomal dominant non-syndromic hearing impairment

11 July 2018

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11 July 2018

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11 July 2018

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11 July 2018

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11 July 2018

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Molecular cloning of chick beta-tectorin, an extracellular matrix molecule of the inner ear

11 July 2018

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11 July 2018

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11 July 2018

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11 July 2018

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Genetic epidemiology of hearing impairment

11 July 2018

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A novel TECTA mutation confirms the recognizable phenotype among autosomal recessive hearing impairment families

11 July 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21512

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21512

Mid-frequency DFNA8/12 hearing loss caused by a synonymous TECTA mutation that affects an exonic splice enhancer

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21512

Mutations in the WFS1 gene that cause low-frequency sensorineural hearing loss are small non-inactivating mutations

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21512

Two families with nonsyndromic low-frequency hearing loss harbor novel mutations in Wolfram syndrome gene 1.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21512

A targeted deletion in alpha-tectorin reveals that the tectorial membrane is required for the gain and timing of cochlear feedback.

21 January 2018

1 reference

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Quantification of TECTA and DFNA5 expression in the developing mouse cochlea

21 January 2018

1 reference

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Genetic epidemiological studies of early-onset deafness in the U.S. school-age population

21 January 2018

1 reference

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Identification of three novel TECTA mutations in Iranian families with autosomal recessive nonsyndromic hearing impairment at the DFNB21 locus.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21512

An alpha-tectorin gene defect causes a newly identified autosomal recessive form of sensorineural pre-lingual non-syndromic deafness, DFNB21.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21512

Distinctive audiometric profile associated with DFNB21 alleles of TECTA

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21512

Two novel missense mutations in the TECTA gene in Korean families with autosomal dominant nonsyndromic hearing loss

21 January 2018

1 reference

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The phenotype of DFNA13/COL11A2: nonsyndromic autosomal dominant mid-frequency and high-frequency sensorineural hearing impairment.

24 September 2018

1 reference

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Autoimmune disease in a DFNA6/14/38 family carrying a novel missense mutation in WFS1.

24 September 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/21520338

12 December 2020

inferred from PubMed ID database lookup

Mutation in the COCH gene is associated with superior semicircular canal dehiscence

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/21520338

12 December 2020

inferred from PubMed ID database lookup

European Gene Mapping Project (EUROGEM): Breakpoint panels for human chromosomes based on the CEPH reference families

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/21520338

12 December 2020

inferred from PubMed ID database lookup

The phenotype of DFNA13/: Nonsyndromic autosomal dominant mid-frequency and high-frequency sensorineural hearing impairment

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21512

7 January 2021

inferred from DOI database lookup

Identifiers

DOI

10.1002/HUMU.21512

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21520338%20AND%20SRC:MED&resulttype=core&format=json

29 January 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21520338%20AND%20SRC:MED&resulttype=core&format=json

29 January 2020

PubMed publication ID

21520338

1 reference