Improving mutation screening in familial hematuric nephropathies through next generation sequencing (Q34568742)

3 August 2017

title

Improving mutation screening in familial hematuric nephropathies through next generation sequencing (English)

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3 August 2017

12

Marie-Alice Macher

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Christine Bôle-Feysot

7

Christine Bole-Feysot

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Patrick Nitschké

9

Patrick Nitschke

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Vincent Morinière

Vincent Morinière

1

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Laurence Heidet

Laurence Heidet

16

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Marie-Claire Gubler

Marie-Claire Gubler

14

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Corinne Antignac

Corinne Antignac

15

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Solenn Pruvost

8

Solenn Pruvost

1 reference

3 August 2017

11

Bertrand Knebelmann

1 reference

3 August 2017

13

Laure-Hélène Noel

1 reference

3 August 2017

Karin Dahan

2

1 reference

3 August 2017

Pascale Hilbert

3

1 reference

3 August 2017

Marieline Lison

4

1 reference

3 August 2017

Said Lebbah

5

1 reference

3 August 2017

Alexandra Topa

6

1 reference

3 August 2017

Patrick Nitschke

9

1 reference

3 August 2017

Emmanuelle Plaisier

10

1 reference

3 August 2017

Marie-Alice Macher

12

1 reference

3 August 2017

publication date

22 May 2014

1 reference

Journal of the American Society of Nephrology

3 August 2017

language of work or name

English

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published in

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3 August 2017

volume

25

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3 August 2017

issue

12

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3 August 2017

page(s)

2740-2751

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describes a project that uses

3 August 2017

massive parallel sequencing

1 reference

Simultaneous sequencing of 24 genes associated with steroid-resistant nephrotic syndrome

inferred from title

cites work

1 reference

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Incidental copy-number variants identified by routine genome testing in a clinical population

7 July 2018

1 reference

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Identification of Gene Mutations in Autosomal Dominant Polycystic Kidney Disease through Targeted Resequencing

7 July 2018

1 reference

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Identification of Sequence Variants in Genetic Disease-Causing Genes Using Targeted Next-Generation Sequencing

7 July 2018

1 reference

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Early angiotensin-converting enzyme inhibition in Alport syndrome delays renal failure and improves life expectancy

7 July 2018

1 reference

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Advances in Alport syndrome diagnosis using next-generation sequencing

7 July 2018

1 reference

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Integrative genomics viewer

7 July 2018

1 reference

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The value of clinical criteria in identifying patients with X-linked Alport syndrome

7 July 2018

1 reference

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Genotype-phenotype correlation in X-linked Alport syndrome

7 July 2018

1 reference

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Massively parallel sequencing: the next big thing in genetic medicine

7 July 2018

1 reference

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Human Splicing Finder: an online bioinformatics tool to predict splicing signals

7 July 2018

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Inherited diseases of the glomerular basement membrane

7 July 2018

1 reference

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Collagen alpha5 and alpha2(IV) chain coexpression: analysis of skin biopsies of Alport patients

7 July 2018

1 reference

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

7 July 2018

1 reference

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Autosomal-dominant Alport syndrome: natural history of a disease due to COL4A3 or COL4A4 gene

7 July 2018

1 reference

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COL4A3/COL4A4 mutations: from familial hematuria to autosomal-dominant or recessive Alport syndrome

7 July 2018

1 reference

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Estimating prevalence in single-gene kidney diseases progressing to renal failure

7 July 2018

1 reference

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Determination of the genomic structure of the COL4A4 gene and of novel mutations causing autosomal recessive Alport syndrome

7 July 2018

1 reference

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Isoform switching of type IV collagen is developmentally arrested in X-linked Alport syndrome leading to increased susceptibility of renal basement membranes to endoproteolysis

7 July 2018

1 reference

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7 July 2018

1 reference

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Alport's syndrome as a cause of renal failure in Europe

7 July 2018

1 reference

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Autosomal dominant Alport syndrome: molecular analysis of the COL4A4 gene and clinical outcome.

7 July 2018

1 reference

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Simultaneous mutation and copy number variation (CNV) detection by multiplex PCR-based GS-FLX sequencing

27 October 2018

1 reference

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A large tandem duplication within the COL4A5 gene is responsible for the high prevalence of Alport syndrome in French Polynesia

27 October 2018

1 reference

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Structure of the human type IV collagen gene COL4A3 and mutations in autosomal Alport syndrome

27 October 2018

1 reference

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Autosomal dominant Alport syndrome caused by a COL4A3 splice site mutation

27 October 2018

1 reference

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X-linked Alport syndrome: natural history in 195 families and genotype- phenotype correlations in males

27 October 2018

1 reference

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High mutation detection rate in the COL4A5 collagen gene in suspected Alport syndrome using PCR and direct DNA sequencing.

27 October 2018

1 reference

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Genetic Disorders of Glomerular Basement Membranes

27 October 2018

1 reference

12 December 2020

Unbiased next generation sequencing analysis confirms the existence of autosomal dominant Alport syndrome in a relevant fraction of cases

1 reference

12 December 2020

Two-color multiplex ligation-dependent probe amplification: Detecting genomic rearrangements in hereditary multiple exostoses

1 reference

12 December 2020

Major rearrangements in the α5(IV) collagen gene in three patients with alport syndrome

1 reference

12 December 2020

Deletions of both alpha 5(IV) and alpha 6(IV) collagen genes in Alport syndrome and in Alport syndrome associated with smooth muscle tumours

1 reference

12 December 2020

Autosomal recessive Alport syndrome: Immunohistochemical study of type IV collagen chain distribution

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12 December 2020

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12 December 2020

Glomerular basement membrane. Identification of a novel disulfide-cross-linked network of alpha3, alpha4, and alpha5 chains of type IV collagen and its implications for the pathogenesis of Alport syndrome

1 reference

12 December 2020

Evidence for Genetic Heterogeneity in Benign Familial Hematuria

1 reference

12 December 2020

Novel COL4A5, COL4A4, and COL4A3 mutations in Alport syndrome

1 reference

12 December 2020

Identifiers

DOI

10.1681/ASN.2013080912

1 reference

3 August 2017

1 reference

3 August 2017

1 reference