Phenotype-genotype correlation in antenatal and neonatal variants of Bartter syndrome - Wikidata - awgldk - TriplyDB

Phenotype-genotype correlation in antenatal and neonatal variants of Bartter syndrome

Phenotype-genotype correlation in antenatal and neonatal variants of Bartter syndrome

http://www.wikidata.org/entity/Q28304558

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Therapeutic Approaches to Genetic Ion Channelopathies and Perspectives in Drug Discovery Bartter- and Gitelman-like syndromes: salt-losing tubulopathies with loop or DCT defects.Molecular pathophysiology of Bartter's and Gitelman's syndromes.Diagnosis of diseases of steroid hormone production, metabolism and action.Molecular aspects of structure, gating, and physiology of pH-sensitive background K2P and Kir K+-transport channels.Accuracy of different equations in estimating GFR in pediatric kidney transplant recipients.Classic Bartter syndrome: a rare cause of failure to thrive in a child Poor phenotype-genotype association in a large series of patients with Type III Bartter syndrome.Association of Mutations in SLC12A1 Encoding the NKCC2 Cotransporter With Neonatal Primary Hyperparathyroidism.Fetal urine biochemistry in antenatal Bartter syndrome: a case report.Mixed Bartter-Gitelman syndrome: an inbred family with a heterogeneous phenotype expression of a novel variant in the CLCNKB gene.Genetic heterogeneity in patients with Bartter syndrome type 1.Antenatal bartter syndrome: a review.Treating hearing loss in patients with infantile Bartter syndrome.Inherited secondary nephrogenic diabetes insipidus: concentrating on humans.ClC-K chloride channels: emerging pathophysiology of Bartter syndrome type 3.Primary molecular disorders and secondary biological adaptations in bartter syndrome.Pathophysiology and clinical presentations of salt-losing tubulopathies.Paradoxical hypertension and salt wasting in Type II Bartter syndrome CD8+ T cells stimulate Na-Cl co-transporter NCC in distal convoluted tubules leading to salt-sensitive hypertension Bartter and Gitelman syndromes: Spectrum of clinical manifestations caused by different mutations.Typical Features of Amelogenesis Imperfecta in Two Patients with Bartter's Syndrome.Late-onset Bartter syndrome type II.Bartter syndrome: presentation in an extremely premature neonate.Prevalence of Novel MAGED2 Mutations in Antenatal Bartter Syndrome.Salt-Losing Tubulopathies in Children: What's New, What's Controversial?Functional severity of CLCNKB mutations correlates with phenotypes in patients with classic Bartter's syndrome.Clinical and Genetic Spectrum of Bartter Syndrome Type 3.Novel CLCNKB mutations causing Bartter syndrome affect channel surface expression.Mutation spectrum of Chinese patients with Bartter syndrome.Bartter syndrome in two sisters with a novel mutation of the CLCNKB gene, one with deafness.A novel compound heterozygous ROMK mutation presenting as late onset Bartter syndrome associated with nephrocalcinosis and elevated 1,25(OH)(2) vitamin D levels.Expanding the spectrum of genetic mutations in antenatal Bartter syndrome type II.Bartter Syndrome Type 3: Phenotype-Genotype Correlation and Favorable Response to Ibuprofen.Clinical and diagnostic features of Bartter and Gitelman syndromes.Secondary nephrogenic diabetes insipidus as a complication of inherited renal diseases.Generation and analyses of R8L barttin knockin mouse

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Phenotype-genotype correlation in antenatal and neonatal variants of Bartter syndrome

http://www.wikidata.org/entity/Q28304558

description

2009 nî lūn-bûn

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2009 թուականի Մայիսին հրատարակուած գիտական յօդուած

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2009 թվականի մայիսին հրատարակված գիտական հոդված

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2009年の論文

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2009年論文

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2009年論文

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2009年論文

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2009年論文

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2009年論文

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2009年论文

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name

Phenotype-genotype correlation in antenatal and neonatal variants of Bartter syndrome

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Phenotype-genotype correlation in antenatal and neonatal variants of Bartter syndrome

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Phenotype-genotype correlation in antenatal and neonatal variants of Bartter syndrome

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type

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Phenotype-genotype correlation in antenatal and neonatal variants of Bartter syndrome

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Phenotype-genotype correlation in antenatal and neonatal variants of Bartter syndrome

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Phenotype-genotype correlation in antenatal and neonatal variants of Bartter syndrome

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Phenotype-genotype correlation in antenatal and neonatal variants of Bartter syndrome

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Phenotype-genotype correlation in antenatal and neonatal variants of Bartter syndrome

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Phenotype-genotype correlation in antenatal and neonatal variants of Bartter syndrome

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Nephrology Dialysis Transplantation

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Phenotype-genotype correlation in antenatal and neonatal variants of Bartter syndrome

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Albert Bensman

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Anne Blanchard

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Claude Guyot

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Denis Morin

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Françoise Broux

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Georges Deschenes

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Karine Brochard

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Marie-Alice Macher

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Mathilde Caillez

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Olivia Boyer

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

Mutations in the ROMK gene in antenatal Bartter syndrome are associated with impaired K+ channel function

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

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

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

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

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

Bartter and related syndromes: the puzzle is almost solved

Localization and functional characterization of rat kidney-specific chloride channel, ClC-K1

Genetic disorders of renal electrolyte transport.

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1455-64

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1741048

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10.1093/NDT/GFN689

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5

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24

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Xavier Jeunemaitre

Rosa Vargas-Poussou

Marie-Alice Macher

Georges Deschênes

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2009-05-01T00:00:00Z

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23677047

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19096086

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