(Q34506869)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16572343%20AND%20SRC:MED&resulttype=core&format=json

18 January 2020

title

Mutation G47R in the BSND gene causes Bartter syndrome with deafness in two Spanish families (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16572343%20AND%20SRC:MED&resulttype=core&format=json

18 January 2020

1 reference

Felix Claverie-Martin

6

1 reference

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18 January 2020

author name string

Víctor García-Nieto

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16572343%20AND%20SRC:MED&resulttype=core&format=json

18 January 2020

Carlos Flores

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16572343%20AND%20SRC:MED&resulttype=core&format=json

18 January 2020

Maria I Luis-Yanes

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16572343%20AND%20SRC:MED&resulttype=core&format=json

18 January 2020

Eduardo Gallego

4

1 reference

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18 January 2020

Jesús Villar

5

1 reference

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18 January 2020

publication date

29 March 2006

1 reference

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18 January 2020

1 reference

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18 January 2020

volume

21

1 reference

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18 January 2020

issue

5

1 reference

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18 January 2020

page(s)

643-648

1 reference

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Functional Characterization of a Calcium-Sensing Receptor Mutation in Severe Autosomal Dominant Hypocalcemia with a Bartter-Like Syndrome

18 January 2020

cites work

1 reference

12 December 2020

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

1 reference

12 December 2020

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

1 reference

12 December 2020

Barttin increases surface expression and changes current properties of ClC-K channels

1 reference

12 December 2020

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

1 reference

12 December 2020

The neonatal variant of Bartter syndrome and deafness: preservation of renal function

1 reference

12 December 2020

Molecular mechanisms of Bartter syndrome caused by mutations in the BSND gene

1 reference

12 December 2020

Studies on the site of renal salt loss in a patient with Bartter's syndrome

1 reference

12 December 2020

Linkage of infantile Bartter syndrome with sensorineural deafness to chromosome 1p.

1 reference

12 December 2020

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

1 reference

12 December 2020

Bartter's syndrome presenting with features resembling renal tubular acidosis. Improvement of renal tubular defects by indomethacin

1 reference

12 December 2020

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

1 reference

12 December 2020

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

1 reference

12 December 2020

The molecular basis of inherited hypokalemic alkalosis: Bartter's and Gitelman's syndromes

1 reference

12 December 2020

Salt wasting and deafness resulting from mutations in two chloride channels

1 reference

12 December 2020

Barttin is a Cl- channel beta-subunit crucial for renal Cl- reabsorption and inner ear K+ secretion

1 reference

12 December 2020

Atypical Bartter syndrome with sensorineural deafness with G47R mutation of the beta-subunit for ClC-Ka and ClC-Kb chloride channels, barttin

1 reference

12 December 2020

Association between activating mutations of calcium-sensing receptor and Bartter's syndrome

1 reference

12 December 2020

Hypokalaemic salt-losing tubulopathies: an evolving story

1 reference

12 December 2020

Bartter syndrome: unraveling the pathophysiologic enigma

1 reference

12 December 2020

Mutation of BSND causes Bartter syndrome with sensorineural deafness and kidney failure

1 reference

12 December 2020

Hypokalemic salt-losing tubulopathy with chronic renal failure and sensorineural deafness

1 reference

12 December 2020

1 reference

12 December 2020