(Q50434411)

13 March 2018

title

Bartter syndrome in two sisters with a novel mutation of the CLCNKB gene, one with deafness. (English)

1 reference

13 March 2018

author name string

Pierre Robitaille

1

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13 March 2018

Aicha Merouani

2

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13 March 2018

Ning He

3

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13 March 2018

York Pei

4

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13 March 2018

publication date

9 April 2011

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13 March 2018

European Journal of Pediatrics

published in

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13 March 2018

volume

170

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13 March 2018

issue

9

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13 March 2018

page(s)

1209-1211

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13 March 2018

https://scigraph.springernature.com/pub.10.1007/s00431-011-1464-z

exact match

0 references

cites work

Phenotype-genotype correlation in antenatal and neonatal variants of Bartter syndrome

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Modifier genes play a significant role in the phenotypic expression of PKD1.

21 January 2018

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Ear and kidney syndromes: molecular versus clinical approach

21 January 2018

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Disease-causing dysfunctions of barttin in Bartter syndrome type IV

21 January 2018

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https://api.crossref.org/works/10.1007%2FS00431-011-1464-Z

Mutations in the chloride channel gene, CLCNKB, leading to a mixed Bartter-Gitelman phenotype

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00431-011-1464-Z

Molecular pathogenesis of Bartter's and Gitelman's syndromes.

21 January 2018

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Endocochlear potential depends on Cl- channels: mechanism underlying deafness in Bartter syndrome IV.

21 January 2018

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https://api.crossref.org/works/10.1007%2FS00431-011-1464-Z

Salt wasting and deafness resulting from mutations in two chloride channels

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00431-011-1464-Z

Mutations in the chloride channel gene, CLCNKB, cause Bartter's syndrome type III

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00431-011-1464-Z

Antenatal Bartter syndrome with sensorineural deafness: refinement of the locus on chromosome 1p31.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00431-011-1464-Z

Infantile variant of Bartter syndrome and sensorineural deafness: a new autosomal recessive disorder

21 January 2018

1 reference

12 December 2020

Mutations in the chloride channel gene CLCNKB as a cause of classic Bartter syndrome

1 reference

12 December 2020

Molecular analysis of patients with type III Bartter syndrome: picking up large heterozygous deletions with semiquantitative PCR

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12 December 2020

Hypokalaemic salt-losing tubulopathies: an evolving story

1 reference

12 December 2020

10.1007/S00431-011-1464-Z

Identifiers

DOI

1 reference

13 March 2018

release_y54xwdrvpre23agp6swerbmcmq

Fatcat ID

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Fatcat

https://api.fatcat.wiki/v0/release/y54xwdrvpre23agp6swerbmcmq

24 November 2022

mapped directly with Wikidata item

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13 March 2018