(Q34385714)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9585600%20AND%20SRC:MED&resulttype=core&format=json

11 November 2019

title

Novel molecular variants of the Na-K-2Cl cotransporter gene are responsible for antenatal Bartter syndrome (English)

1 reference

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11 November 2019

12

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11 November 2019

Corinne Antignac

17

1 reference

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11 November 2019

author name string

Vargas-Poussou R

1

1 reference

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11 November 2019

Feldmann D

2

1 reference

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11 November 2019

Vollmer M

3

1 reference

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11 November 2019

Konrad M

4

1 reference

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11 November 2019

Kelly L

5

1 reference

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11 November 2019

van den Heuvel LP

6

1 reference

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11 November 2019

Tebourbi L

7

1 reference

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11 November 2019

Brandis M

8

1 reference

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11 November 2019

Karolyi L

9

1 reference

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11 November 2019

Hebert SC

10

1 reference

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11 November 2019

Lemmink HH

11

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11 November 2019

Hildebrandt F

13

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11 November 2019

Seyberth HW

14

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11 November 2019

Guay-Woodford LM

15

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11 November 2019

Knoers NV

16

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11 November 2019

language of work or name

English

0 references

publication date

1 June 1998

1 reference

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American Journal of Human Genetics

11 November 2019

published in

1 reference

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11 November 2019

volume

62

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11 November 2019

page(s)

1332-1340

1 reference

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11 November 2019

issue

6

1 reference

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Hyperplasia of the juxtaglomerular complex with hyperaldosteronism and hypokalemic alkalosis. A new syndrome

11 November 2019

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377151

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

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377151

Spectrum of mutations in the COL4A5 collagen gene in X-linked Alport syndrome

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377151

Structure and physical mapping of DR1, a TATA-binding protein-associated phosphoprotein gene, to chromosome 1p22.1 and its exclusion in Stargardt disease (STGD)

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377151

Bartter's syndrome, hypokalaemic alkalosis with hypercalciuria, is caused by mutations in the Na-K-2Cl cotransporter NKCC2

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377151

Cloning, embryonic expression, and alternative splicing of a murine kidney-specific Na-K-Cl cotransporter

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377151

Alternatively spliced isoforms of the putative renal Na-K-Cl cotransporter are differentially distributed within the rabbit kidney

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377151

Bartter's syndrome: an autosomal recessive disorder? Study of four patients in one generation of the same pedigree and their relatives

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377151

A variant of Bartter's syndrome. Bartter's syndrome associated with hydramnios, prematurity, hypercalciuria and nephrocalcinosis

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377151

A new familial disorder characterized by hypokalemia and hypomagnesemia

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377151

Hypercalciuria in potassium-losing nephropathy: a variant of Bartter's syndrome

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377151

Congenital hypokalemia with hypercalciuria in preterm infants: a hyperprostaglandinuric tubular syndrome different from Bartter syndrome

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377151

Role of prostaglandins in hyperprostaglandin E syndrome and in selected renal tubular disorders

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377151

Rapid and sensitive detection of point mutations and DNA polymorphisms using the polymerase chain reaction

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377151

Ion transport mechanisms in thick ascending limb of Henle's loop of mammalian nephron

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377151

A survey of transport properties of the thick ascending limb

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377151

Cloning and stable maintenance of 300-kilobase-pair fragments of human DNA in Escherichia coli using an F-factor-based vector

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377151

Substitution of arginine for glycine 325 in the collagen alpha 5 (IV) chain associated with X-linked Alport syndrome: characterization of the mutation by direct sequencing of PCR-amplified lymphoblast cDNA fragments

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377151

Prostaglandin biosynthesis by rabbit renomedullary interstitial cells in tissue culture. Stimulation by angiotensin II, bradykinin, and arginine vasopressin

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377151

Detection of point mutations in the androgen receptor gene using non-isotopic single strand conformation polymorphism analysis. German Collaborative Intersex Study Group.

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377151

Thy-1-expressing CD34+ human cells express multiple hematopoietic potentialities in vitro and in SCID-hu mice

27 October 2018

1 reference

12 December 2020

Genetic heterogeneity of Bartter's syndrome revealed by mutations in the K+ channel, ROMK

1 reference

12 December 2020

Impaired response to furosemide in hyperprostaglandin E syndrome: evidence for a tubular defect in the loop of Henle

1 reference

12 December 2020

Localization of bumetanide- and thiazide-sensitive Na-K-Cl cotransporters along the rat nephron

1 reference

12 December 2020

Chronic hypokalaemia with growth retardation, normotensive hyperrenin-hyperaldosteronism ("Bartter's syndrome"), and hypercalciuria. Report of two cases with emphasis on natural history and on catch-up growth during treatment

1 reference

12 December 2020

Ammonia and bicarbonate transport by thick ascending limb of rat kidney

1 reference

12 December 2020

Bartter syndrome in two siblings--antenatal and neonatal observations

1 reference

12 December 2020

Calcium homeostasis and hypercalciuria in hyperprostaglandin E syndrome

1 reference

12 December 2020

Calcium kinetics in the hyperprostaglandin E syndrome

1 reference

12 December 2020

[Antenatal form of Bartter's syndrome]

1 reference

12 December 2020

Chromosome-specific microsatellite sets for fluorescence-based, semi-automated genome mapping

1 reference

12 December 2020

Identifiers

DOI

10.1086/301872

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9585600%20AND%20SRC:MED&resulttype=core&format=json

11 November 2019

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9585600%20AND%20SRC:MED&resulttype=core&format=json

11 November 2019

1 reference