Antenatal Bartter syndrome with sensorineural deafness: refinement of the locus on chromosome 1p31. (Q50495844)

14 March 2018

title

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

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Vollmer M

1

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Jeck N

2

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Lemmink HH

3

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Vargas R

4

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Feldmann D

5

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Konrad M

6

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Beekmann F

7

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van Den Heuvel LP

8

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Deschenes G

9

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Guay-Woodford LM

10

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Antignac C

11

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Seyberth HW

12

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Hildebrandt F

13

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Knoers NV

14

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language of work or name

English

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publication date

1 July 2000

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Nephrology Dialysis Transplantation

published in

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volume

15

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issue

7

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page(s)

970-974

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14 March 2018

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

cites work

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21 January 2018

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FNDT%2F15.7.970

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

21 January 2018

1 reference

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FNDT%2F15.7.970

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FNDT%2F15.7.970

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FNDT%2F15.7.970

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

21 January 2018

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Possibility of EB virus preferentially transforming a subpopulation of human B lymphocytes

21 January 2018

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A comprehensive genetic map of the human genome based on 5,264 microsatellites

21 January 2018

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Homozygosity mapping: a way to map human recessive traits with the DNA of inbred children

21 January 2018

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A novel mutation in the potassium channel gene KVLQT1 causes the Jervell and Lange-Nielsen cardioauditory syndrome

21 January 2018

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https://api.crossref.org/works/10.1093%2FNDT%2F15.7.970

KCNE1 mutations cause jervell and Lange-Nielsen syndrome

21 January 2018

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KCNQ4, a novel potassium channel expressed in sensory outer hair cells, is mutated in dominant deafness

21 January 2018

1 reference

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

21 January 2018

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21 January 2018

Deafness from Furosemide

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Deafness and imbalance associated with inactivation of the secretory Na-K-2Cl co-transporter

21 January 2018

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Linkage of Gitelman syndrome to the thiazide-sensitive sodium-chloride cotransporter gene with identification of mutations in Dutch families

21 January 2018

1 reference

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Neonatal Bartter's syndrome, indomethacin and necrotising enterocolitis

21 January 2018

1 reference

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FNDT%2F15.7.970

Two novel mutations of the gene for Kir 1.1 (ROMK) in neonatal Bartter syndrome

21 January 2018

1 reference

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

21 January 2018

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21 January 2018

Identifiers

DOI

10.1093/NDT/15.7.970

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14 March 2018

PubMed ID

10862633

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14 March 2018