(Q34726867)

4 August 2017

title

Spectrum of mutations in Gitelman syndrome (English)

1 reference

Marie-Christine Vantyghem-Haudiquet

4 August 2017

author

12

Marie-Christine Vantyghem

0 references

Bruno Moulin

10

Bruno Moulin

1 reference

4 August 2017

22

Olivier Devuyst

0 references

Huguette Debaix

6

Huguette Debaix

0 references

Rosa Vargas-Poussou

1

Rosa Vargas-Poussou

0 references

Xavier Jeunemaitre

23

Xavier Jeunemaitre

1 reference

Anne-Paule Gimenez-Roqueplo

4 August 2017

Anne Blanchard

21

0 references

Anne-Paule Gimenez-Roqueplo

19

0 references

Eva Riveira-Muñoz

1 reference

ORCID Public Data File 2021

author name string

Rosa Vargas-Poussou

1

1 reference

4 August 2017

Karin Dahan

2

1 reference

4 August 2017

Diana Kahila

3

1 reference

4 August 2017

Annabelle Venisse

4

1 reference

4 August 2017

Eva Riveira-Munoz

5

1 reference

4 August 2017

Huguette Debaix

6

1 reference

4 August 2017

Bernard Grisart

7

1 reference

4 August 2017

Franck Bridoux

8

1 reference

4 August 2017

Robert Unwin

9

1 reference

4 August 2017

Jean-Philippe Haymann

11

1 reference

4 August 2017

Claire Rigothier

13

1 reference

4 August 2017

Bertrand Dussol

14

1 reference

4 August 2017

Michel Godin

15

1 reference

4 August 2017

Hubert Nivet

16

1 reference

4 August 2017

Laurence Dubourg

17

1 reference

4 August 2017

Ivan Tack

18

1 reference

4 August 2017

Pascal Houillier

20

1 reference

4 August 2017

publication date

17 March 2011

1 reference

Journal of the American Society of Nephrology

4 August 2017

published in

1 reference

4 August 2017

volume

22

1 reference

4 August 2017

issue

4

1 reference

4 August 2017

page(s)

693-703

1 reference

Mechanisms for human genomic rearrangements

4 August 2017

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3065225

Evaluating PVALB as a candidate gene for SLC12A3-negative cases of Gitelman's syndrome

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3065225

Rare independent mutations in renal salt handling genes contribute to blood pressure variation

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3065225

Mammalian non-LTR retrotransposons: for better or worse, in sickness and in health

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3065225

Molecular physiology and pathophysiology of electroneutral cation-chloride cotransporters.

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3065225

A novel mutation in the chloride channel gene, CLCNKB, as a cause of Gitelman and Bartter syndromes

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3065225

Functional expression of mutations in the human NaCl cotransporter: evidence for impaired routing mechanisms in Gitelman's syndrome

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3065225

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

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3065225

Defective processing and expression of thiazide-sensitive Na-Cl cotransporter as a cause of Gitelman's syndrome

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3065225

Novel mutations in the thiazide-sensitive NaCl cotransporter gene in patients with Gitelman syndrome with predominant localization to the C-terminal domain

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3065225

Molecular cloning, expression pattern, and chromosomal localization of the human Na-Cl thiazide-sensitive cotransporter (SLC12A3)

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3065225

Gitelman's variant of Bartter's syndrome, inherited hypokalaemic alkalosis, is caused by mutations in the thiazide-sensitive Na-Cl cotransporter

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3065225

Molecular characterization of the breakpoints of a 12-kb deletion in the NF1 gene in a family showing germ-line mosaicism.

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3065225

Large rearrangements detected by MLPA, point mutations, and survey of the frequency of mutations within the SLC3A1 and SLC7A9 genes in a cohort of 172 cystinuric Italian patients

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3065225

The succinate dehydrogenase genetic testing in a large prospective series of patients with paragangliomas.

26 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3065225

Transcriptional and functional analyses of SLC12A3 mutations: new clues for the pathogenesis of Gitelman syndrome.

26 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3065225

Identification of exonic deletions in the PAH gene causing phenylketonuria by MLPA analysis.

26 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3065225

Simple detection of genomic microdeletions and microduplications using QMPSF in patients with idiopathic mental retardation.

26 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3065225

Genomic rearrangements in the CFTR gene: extensive allelic heterogeneity and diverse mutational mechanisms

26 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3065225

A single nucleotide polymorphism alters the activity of the renal Na+:Cl- cotransporter and reveals a role for transmembrane segment 4 in chloride and thiazide affinity

26 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3065225

Comprehensive screening for constitutional RB1 mutations by DHPLC and QMPSF.

26 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3065225

A new mutation (intron 9 +1 G>T) in the SLC12A3 gene is linked to Gitelman syndrome in Gypsies

26 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3065225

Gitelman's syndrome: an important differential diagnosis of hypokalemia

26 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3065225

Gitelman's syndrome revisited: an evaluation of symptoms and health-related quality of life.

26 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3065225

Meta-analysis of indels causing human genetic disease: mechanisms of mutagenesis and the role of local DNA sequence complexity

26 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3065225

Gross genomic rearrangements involving deletions in the CFTR gene: characterization of six new events from a large cohort of hitherto unidentified cystic fibrosis chromosomes and meta-analysis of the underlying mechanisms

26 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3065225

Identification of fifteen novel mutations in the SLC12A3 gene encoding the Na-Cl Co-transporter in Italian patients with Gitelman syndrome

9 December 2018

1 reference

12 December 2020

Normal plasma total magnesium in Gitelman syndrome

1 reference

12 December 2020

Genetic variants of thiazide-sensitive NaCl-cotransporter in Gitelman's syndrome and primary hypertension

1 reference

12 December 2020

Phenotype and genotype analysis in Chinese patients with Gitelman's syndrome

1 reference

12 December 2020

Identifiers

DOI

10.1681/ASN.2010090907

1 reference

4 August 2017

1 reference

4 August 2017

1 reference