(Q37940326)

25 August 2017

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title

Liddle syndrome in a Serbian family and literature review of underlying mutations (English)

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25 August 2017

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Radovan Bogdanović

1

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25 August 2017

Vladimir Kuburović

2

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25 August 2017

Nataša Stajić

3

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25 August 2017

Sadaf S Mughal

4

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25 August 2017

Alina Hilger

5

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25 August 2017

Sanja Ninić

6

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25 August 2017

Sergej Prijić

7

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25 August 2017

Michael Ludwig

8

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25 August 2017

publication date

29 September 2011

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European Journal of Pediatrics

25 August 2017

published in

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25 August 2017

volume

171

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25 August 2017

issue

3

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25 August 2017

page(s)

471-478

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Liddle syndrome in a newborn infant.

25 August 2017

cites work

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https://api.crossref.org/works/10.1007%2FS00431-011-1581-8

Epithelial Na+ channel (ENaC), hormones, and hypertension

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00431-011-1581-8

Liddle syndrome caused by P616R mutation of the epithelial sodium channel beta subunit

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00431-011-1581-8

Examination of genotype and phenotype relationships in 14 patients with apparent mineralocorticoid excess

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00431-011-1581-8

Cell surface expression of the epithelial Na channel and a mutant causing Liddle syndrome: a quantitative approach

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00431-011-1581-8

A novel epithelial sodium channel beta-subunit mutation associated with hypertensive Liddle syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00431-011-1581-8

Liddle's syndrome caused by a novel mutation in the proline-rich PY motif of the epithelial sodium channel beta-subunit

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00431-011-1581-8

Diagnosis of Liddle syndrome by genetic analysis of beta and gamma subunits of epithelial sodium channel--a report of five affected family members

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00431-011-1581-8

Hypertension caused by a truncated epithelial sodium channel gamma subunit: genetic heterogeneity of Liddle syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00431-011-1581-8

A de novo missense mutation of the beta subunit of the epithelial sodium channel causes hypertension and Liddle syndrome, identifying a proline-rich segment critical for regulation of channel activity

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00431-011-1581-8

Liddle's syndrome associated with a point mutation in the extracellular domain of the epithelial sodium channel gamma subunit.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00431-011-1581-8

A Family with Liddle's Syndrome Caused by a New Missense Mutation in the Subunit of the Epithelial Sodium Channel

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00431-011-1581-8

Identification of a single cytosine base insertion mutation at Arg-597 of the beta subunit of the human epithelial sodium channel in a family with Liddle's disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00431-011-1581-8

The diagnosis of Liddle syndrome by identification of a mutation in the beta subunit of the epithelial sodium channel

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00431-011-1581-8

Genotype-phenotype analysis of a newly discovered family with Liddle's syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00431-011-1581-8

Six missense mutations of the epithelial sodium channel beta and gamma subunits in Japanese hypertensives

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00431-011-1581-8

A family with liddle's syndrome caused by a mutation in the beta subunit of the epithelial sodium channel

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00431-011-1581-8

Hereditary hypertension caused by chimaeric gene duplications and ectopic expression of aldosterone synthase

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00431-011-1581-8

Mutations and variants of the epithelial sodium channel gene in Liddle's syndrome and primary hypertension

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00431-011-1581-8

Apparent mineralocorticoid excess: report of six new cases and extensive personal experience.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00431-011-1581-8

Human hypertension caused by mutations in the kidney isozyme of 11β–hydroxysteroid dehydrogenase

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00431-011-1581-8

A frameshift mutation of beta subunit of epithelial sodium channel in a case of isolated Liddle syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00431-011-1581-8

The Fourth Report on the Diagnosis, Evaluation, and Treatment of High Blood Pressure in Children and Adolescents

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00431-011-1581-8

Monogenic low renin hypertension

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00431-011-1581-8

A new mutation, R563Q, of the beta subunit of the epithelial sodium channel associated with low-renin, low-aldosterone hypertension

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00431-011-1581-8

Liddle's syndrome caused by a novel missense mutation (P617L) of the epithelial sodium channel beta subunit

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00431-011-1581-8

A novel mutation in the beta-subunit of the epithelial sodium channel gene (SCNN1B) in a Thai family with Liddle's syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00431-011-1581-8

A mutation in the epithelial sodium channel causing Liddle disease increases channel activity in the Xenopus laevis oocyte expression system

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00431-011-1581-8

Liddle's syndrome: heritable human hypertension caused by mutations in the beta subunit of the epithelial sodium channel

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00431-011-1581-8

Mechanism by which Liddle's syndrome mutations increase activity of a human epithelial Na+ channel

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00431-011-1581-8

Liddle disease caused by a missense mutation of beta subunit of the epithelial sodium channel gene

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00431-011-1581-8

Genomic organization of the 5' end of human beta-ENaC and preliminary characterization of its promoter

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00431-011-1581-8

Genetic analysis of the epithelial sodium channel in Liddle's syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00431-011-1581-8

Heritable forms of hypertension

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00431-011-1581-8

Liddle syndrome: an autosomal dominant form of human hypertension

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00431-011-1581-8

Distribution of 24-h ambulatory blood pressure in children: normalized reference values and role of body dimensions.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00431-011-1581-8

Ambulatory Blood Pressure Monitoring in Children and Adolescents: Recommendations for Standard Assessment

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00431-011-1581-8

A clinical phenotype mimicking essential hypertension in a newly discovered family with Liddle's syndrome

21 January 2018

1 reference

12 December 2020

Liddle's syndrome: prospective genetic screening and suppressed aldosterone secretion in an extended kindred

1 reference

12 December 2020

A family with Liddle's syndrome caused by a new missense mutation in the beta subunit of the epithelial sodium channel

1 reference

12 December 2020

[Liddle's syndrome caused by a novel mutation of the gamma-subunit of epithelial sodium channel gene SCNN1G in Chinese].

1 reference

12 December 2020

Mutation analysis of SCNN1B in a family with Liddle's syndrome

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12 December 2020

Two sporadic cases of Liddle's syndrome caused by De novo ENaC mutations

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12 December 2020

Liddle's syndrome: a 14-year follow-up of the youngest diagnosed case

1 reference

12 December 2020

A study of mutation(s) of the epithelial sodium channel gene in a Liddle's syndrome family

1 reference

12 December 2020

A novel epithelial sodium channel gamma-subunit de novo frameshift mutation leads to Liddle syndrome

1 reference

12 December 2020

Brief report: Liddle's syndrome revisited--a disorder of sodium reabsorption in the distal tubule

1 reference

12 December 2020

The R563Q mutation of the epithelial sodium channel beta-subunit is associated with hypertension.

1 reference

12 December 2020

WW domains of Nedd4 bind to the proline-rich PY motifs in the epithelial Na+ channel deleted in Liddle's syndrome

1 reference

12 December 2020

10.1007/S00431-011-1581-8

Identifiers

DOI

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25 August 2017

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