Inner ear abnormalities in four patients with dRTA and SNHL: clinical and genetic heterogeneity (Q24318452)

GOA release 2020-03-11

inner ear morphogenesis

1 reference

GOA release 2020-03-11

1 reference

Sabrina Giglio

9

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Maurizio Genuardi

object named as

Maurizio Genuardi

8

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author name string

Elena Andreucci

1

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Benedetta Bianchi

2

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Ilaria Carboni

3

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Giancarlo Lavoratti

4

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Marzia Mortilla

5

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Claudio Fonda

6

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Minna Bigozzi

7

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Ivana Pela

Distal renal tubular acidosis associated with isolated large vestibular aqueduct and sensorineural hearing loss

10

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language of work or name

English

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publication date

November 2009

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published in

Pediatric Nephrology

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volume

24

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issue

11

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page(s)

2147-53

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cites work

1 reference

https://api.crossref.org/works/10.1007/S00467-009-1261-3

Distal renal tubular acidosis associated with large vestibular aqueduct and sensorineural hearing loss

21 January 2018

1 reference

https://api.crossref.org/works/10.1007/S00467-009-1261-3

Audiometric and imaging characteristics of distal renal tubular acidosis and deafness

21 January 2018

1 reference

https://api.crossref.org/works/10.1007/S00467-009-1261-3

Novel ATP6V1B1 and ATP6V0A4 mutations in autosomal recessive distal renal tubular acidosis with new evidence for hearing loss

21 January 2018

1 reference

12 December 2020

The Large Vestibular Aqueduct Syndrome

1 reference

12 December 2020

Mutations in ATP6N1B, encoding a new kidney vacuolar proton pump 116-kD subunit, cause recessive distal renal tubular acidosis with preserved hearing

1 reference

12 December 2020

Genetic investigation of autosomal recessive distal renal tubular acidosis: evidence for early sensorineural hearing loss associated with mutations in the ATP6V0A4 gene.

1 reference

12 December 2020

Epididymal expression of the forkhead transcription factor Foxi1 is required for male fertility

1 reference

12 December 2020

The pH-sensitivity of transepithelial K transport in vestibular dark cells

1 reference

12 December 2020

Enlarged vestibular aqueduct: Looking for genotypic-phenotypic correlations.

1 reference

12 December 2020

Familial distal renal tubular acidosis is associated with mutations in the red cell anion exchanger (Band 3, AE1) gene

1 reference

12 December 2020

Renal tubular acidosis: the clinical entity

1 reference

12 December 2020

Free radical stress-mediated loss of Kcnj10 protein expression in stria vascularis contributes to deafness in Pendred syndrome mouse model

1 reference

12 December 2020

Functional significance of channels and transporters expressed in the inner ear and kidney

1 reference

12 December 2020

Gap junctions and cochlear homeostasis

1 reference

12 December 2020

Mutations in the gene encoding B1 subunit of H -ATPase cause renal tubular acidosis with sensorineural deafness

1 reference

12 December 2020

Loss of KCNJ10 protein expression abolishes endocochlear potential and causes deafness in Pendred syndrome mouse model

1 reference

12 December 2020

Gap-junction channels dysfunction in deafness and hearing loss

1 reference

12 December 2020

Genetic disorders of transporters/channels in the inner ear and their relation to the kidney.

1 reference

12 December 2020

Function, structure and regulation of the vacuolar (H )-ATPases

1 reference

12 December 2020

Distal RTA with nerve deafness: clinical spectrum and mutational analysis in five children

1 reference

12 December 2020

Lack of pendrin HCO3- transport elevates vestibular endolymphatic [Ca2 ] by inhibition of acid-sensitive TRPV5 and TRPV6 channels

1 reference

12 December 2020

Embryological development and large vestibular aqueduct syndrome

1 reference

12 December 2020

The forkhead transcription factor Foxi1 directly activates the AE4 promoter

1 reference

12 December 2020

Inherited distal renal tubular acidosis.

1 reference

12 December 2020

Large vestibular aqueduct syndrome and endolymphatic hydrops: two presentations of a common primary inner-ear dysfunction?

1 reference

12 December 2020

Regulation of endolymphatic fluid volume

1 reference

12 December 2020

Supporting sensory transduction: cochlear fluid homeostasis and the endocochlear potential

1 reference

12 December 2020

Identification, expression pattern, and characterization of mouse glutaredoxin 2 isoforms.

1 reference

https://api.crossref.org/works/10.1007/S00467-009-1261-3

7 January 2021

inferred from DOI database lookup

Identifiers

DOI

10.1007/S00467-009-1261-3

0 references

Dimensions Publication ID

1015204531

0 references

Fatcat ID

release_wkj3iu72rbe5nptg6jc6ywtrge

1 reference

Fatcat

https://api.fatcat.wiki/v0/release/wkj3iu72rbe5nptg6jc6ywtrge

24 November 2022