Genetic testing can resolve diagnostic confusion in Alport syndrome. - Wikidata - wikimedia - TriplyDB

Genetic testing can resolve diagnostic confusion in Alport syndrome.

Genetic testing can resolve diagnostic confusion in Alport syndrome.

http://www.wikidata.org/entity/Q37673645

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The expanding phenotypic spectra of kidney diseases: insights from genetic studies.A novel LMX1B mutation in a family with end-stage renal disease of 'unknown cause'.

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Genetic testing can resolve diagnostic confusion in Alport syndrome.

http://www.wikidata.org/entity/Q37673645

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article científic

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article scientifique

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articolo scientifico

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artigo científico

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bilimsel makale

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scientific article published on 18 December 2013

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vedecký článok

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vetenskaplig artikel

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videnskabelig artikel

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vědecký článek

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name

Genetic testing can resolve diagnostic confusion in Alport syndrome.

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Genetic testing can resolve diagnostic confusion in Alport syndrome.

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type

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Genetic testing can resolve diagnostic confusion in Alport syndrome.

@en

Genetic testing can resolve diagnostic confusion in Alport syndrome.

@nl

prefLabel

Genetic testing can resolve diagnostic confusion in Alport syndrome.

@en

Genetic testing can resolve diagnostic confusion in Alport syndrome.

@nl

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Clinical kidney journal / an academic journal of the ERA-EDTA (European Renal Association - European Dialysis and Transplant Association)

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Genetic testing can resolve diagnostic confusion in Alport syndrome

@en

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David Lewis

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Jennifer Adam

http://www.w3.org/2001/XMLSchema#string

John A Sayer

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Katrina Wood

http://www.w3.org/2001/XMLSchema#string

Ramesh Naik

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P2860

COL4A3/COL4A4 mutations producing focal segmental glomerulosclerosis and renal failure in thin basement membrane nephropathy

Clinical utility gene card for: Alport syndrome

Identification of mutations in the COL4A5 collagen gene in Alport syndrome

X-linked Alport syndrome: natural history and genotype-phenotype correlations in girls and women belonging to 195 families: a "European Community Alport Syndrome Concerted Action" study

Nonmuscle myosin heavy chain IIA mutations define a spectrum of autosomal dominant macrothrombocytopenias: May-Hegglin anomaly and Fechtner, Sebastian, Epstein, and Alport-like syndromes.

Deletions in the COL4A5 collagen gene in X-linked Alport syndrome. Characterization of the pathological transcripts in nonrenal cells and correlation with disease expression.

Autosomal recessive Alport syndrome: an in-depth clinical and molecular analysis of five families.

Mutational analysis of EYA1, SIX1 and SIX5 genes and strategies for management of hearing loss in patients with BOR/BO syndrome.

Challenge in pathologic diagnosis of Alport syndrome: evidence from correction of previous misdiagnosis.

How benign is hematuria? Using genetics to predict prognosis.

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10.1093/CKJ/SFT144

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Thomas M Connor

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