(Q22010864)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10581026%20AND%20SRC:MED&resulttype=core&format=json

2 November 2019

title

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

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10581026%20AND%20SRC:MED&resulttype=core&format=json

Collagen type XI alpha 2 chain

2 November 2019

main subject

1 reference

GOA release 2020-03-11

hearing

1 reference

Collagen, type XI, alpha 2

GOA release 2020-03-11

1 reference

GOA release 2020-03-11

1 reference

11

M C King

M C

King

1 reference

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2 November 2019

20

R J Smith

R J

Smith

1 reference

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2 November 2019

McGuirt WT

1

W T

McGuirt

1 reference

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2 November 2019

Prasad SD

2

S D

Prasad

1 reference

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2 November 2019

Griffith AJ

3

A J

Griffith

1 reference

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2 November 2019

Kunst HP

4

H P

Kunst

1 reference

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2 November 2019

Green GE

5

G E

Green

1 reference

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2 November 2019

Shpargel KB

6

K B

Shpargel

1 reference

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2 November 2019

Runge C

7

C

Runge

1 reference

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2 November 2019

Huybrechts C

8

C

Huybrechts

1 reference

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2 November 2019

Mueller RF

9

R F

Mueller

1 reference

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2 November 2019

Lynch E

10

E

Lynch

1 reference

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2 November 2019

Brunner HG

12

H G

Brunner

1 reference

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2 November 2019

Cremers CW

13

C W

Cremers

1 reference

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2 November 2019

Takanosu M

14

M

Takanosu

1 reference

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2 November 2019

Li SW

15

S W

Li

1 reference

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2 November 2019

Arita M

16

M

Arita

1 reference

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2 November 2019

Mayne R

17

R

Mayne

1 reference

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2 November 2019

Prockop DJ

18

D J

Prockop

1 reference

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2 November 2019

Van Camp G

19

G

Van Camp

1 reference

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2 November 2019

language of work or name

English

0 references

publication date

1 December 1999

1 reference

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2 November 2019

1 reference

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2 November 2019

volume

23

1 reference

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2 November 2019

issue

4

1 reference

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2 November 2019

page(s)

413-419

1 reference

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Genetic epidemiology of hearing impairment

2 November 2019

cites work

1 reference

7 January 2021

Genetic associations in age-related hearing thresholds.

1 reference

7 January 2021

Collagens and their abnormalities in a wide spectrum of diseases

1 reference

7 January 2021

Localization of type II, IX and V collagen in the inner ear

1 reference

7 January 2021

Cartilage contains mixed fibrils of collagen types II, IX, and XI.

1 reference

7 January 2021

A fibrillar collagen gene, Col11a1, is essential for skeletal morphogenesis

1 reference

7 January 2021

Complete structure of the human COL11A2 gene: the exon sizes and other features indicate the gene has not evolved with genes for other fibriller collagens

1 reference

7 January 2021

Alternative mRNA Processing Occurs in the Variable Region of the Pro-1(XI) and Pro-2(XI) Collagen Chains

1 reference

7 January 2021

Autosomal dominant and recessive osteochondrodysplasias associated with the COL11A2 locus

1 reference

7 January 2021

Heterozygous glycine substitution in the COL11A2 gene in the original patient with the Weissenbacher-Zweymüller syndrome demonstrates its identity with heterozygous OSMED (nonocular Stickler syndrome)

1 reference

7 January 2021

Stickler syndrome without eye involvement is caused by mutations in COL11A2, the gene encoding the alpha2(XI) chain of type XI collagen

1 reference

7 January 2021

The type XI collagenopathies.

1 reference

7 January 2021

Oto- spondylo-megaepiphyseal dysplasia (OSMED): clinical description of three patients homozygous for a missense mutation in the COL11A2 gene

1 reference

7 January 2021

A novel locus for autosomal dominant nonsyndromic hearing loss, DFNA13, maps to chromosome 6p

1 reference

7 January 2021

Isolation of novel and known genes from a human fetal cochlear cDNA library using subtractive hybridization and differential screening

1 reference

7 January 2021

Five families with arginine519-cysteine mutation in COL2A1: Evidence for three distinct founders

1 reference

7 January 2021

Biosynthesis of Procollagen

1 reference

7 January 2021

Substitution of aspartic acid for glycine at position 310 in type II collagen produces achondrogenesis II, and substitution of serine at position 805 produces hypochondrogenesis: analysis of genotype-phenotype relationships

1 reference

7 January 2021

Collagen of accessory structures of organ of Corti

1 reference

7 January 2021

Inner ridge cells may be the main source of tectorial membrane type II collagen: evidence from quantitative mRNA in situ hybridization.

1 reference

7 January 2021

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

1 reference

7 January 2021

Physical mapping 220 kb centromeric of the human MHC and DNA sequence analysis of the 43-kb segment including the RING1, HKE6, and HKE4 genes

1 reference

7 January 2021

Rapid screening of transgenic type II and type XI collagen knock-out mice with three-primer PCR

1 reference

7 January 2021

Genetics of age-related hearing loss in mice: I. Inbred and F1 hybrid strains.

1 reference

7 January 2021

The use of long-duration current pulses to assess nerve survival

1 reference

7 January 2021

A low-viscosity epoxy resin embedding medium for electron microscopy

1 reference

7 January 2021

The block-surface technique for evaluation of cochlear pathology

1 reference

7 January 2021

Cochlear pathology of long term neomycin induced deafness in cats

1 reference

7 January 2021

Ultrastructural organization of proteoglycans and fibrillar matrix of the tectorial membrane.

1 reference

7 January 2021

Identifiers

DOI

10.1038/70516

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10581026%20AND%20SRC:MED&resulttype=core&format=json

Dimensions Publication ID

2 November 2019

1002912973

0 references

1 reference