An efficient and comprehensive strategy for genetic diagnostics of polycystic kidney disease (Q35554078)

8 August 2017

title

An efficient and comprehensive strategy for genetic diagnostics of polycystic kidney disease (English)

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polycystic kidney disease

8 August 2017

main subject

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Tobias Eisenberger

1

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8 August 2017

Christian Decker

2

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8 August 2017

Milan Hiersche

3

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8 August 2017

Ruben C Hamann

4

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8 August 2017

Eva Decker

5

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8 August 2017

Steffen Neuber

6

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8 August 2017

Valeska Frank

7

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8 August 2017

Hanno J Bolz

8

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8 August 2017

Henry Fehrenbach

9

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8 August 2017

Lars Pape

10

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8 August 2017

Burkhard Toenshoff

11

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8 August 2017

Christoph Mache

12

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8 August 2017

Kay Latta

13

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8 August 2017

Carsten Bergmann

14

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8 August 2017

language of work or name

English

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publication date

3 February 2015

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8 August 2017

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8 August 2017

volume

10

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8 August 2017

issue

2

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8 August 2017

page(s)

e0116680

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Creative Commons Attribution 4.0 International

8 August 2017

copyright license

start time

3 February 2015

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April 2022 Public Data File from Crossref

copyright status

copyrighted

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cites work

Diagnosis of autosomal dominant polycystic kidney disease using efficient PKD1 and PKD2 targeted next-generation sequencing

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Targeted and genomewide NGS data disqualify mutations in MYO1A, the "DFNA48 gene", as a cause of deafness

12 July 2018

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ARPKD and early manifestations of ADPKD: the original polycystic kidney disease and phenocopies

12 July 2018

1 reference

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Increasing the yield in targeted next-generation sequencing by implicating CNV analysis, non-coding exons and the overall variant load: the example of retinal dystrophies

12 July 2018

1 reference

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ANKS6 is a central component of a nephronophthisis module linking NEK8 to INVS and NPHP3

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4315576

Mutations in NEK8 link multiple organ dysplasia with altered Hippo signalling and increased c-MYC expression

12 July 2018

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Combined NGS approaches identify mutations in the intraflagellar transport gene IFT140 in skeletal ciliopathies with early progressive kidney Disease

12 July 2018

1 reference

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Current insights into renal ciliopathies: what can genetics teach us?

12 July 2018

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Diagnostic approaches to apparent homozygosity

12 July 2018

1 reference

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Identification of gene mutations in autosomal dominant polycystic kidney disease through targeted resequencing

12 July 2018

1 reference

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ClipCrop: a tool for detecting structural variations with single-base resolution using soft-clipping information

12 July 2018

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VarScan 2: somatic mutation and copy number alteration discovery in cancer by exome sequencing

12 July 2018

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Mutations in multiple PKD genes may explain early and severe polycystic kidney disease

12 July 2018

1 reference

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GeneCards Version 3: the human gene integrator

12 July 2018

1 reference

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The Genome Analysis Toolkit: A MapReduce framework for analyzing next-generation DNA sequencing data

12 July 2018

1 reference

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The primary cilium: a signalling centre during vertebrate development

12 July 2018

1 reference

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Methods for genomic partitioning

12 July 2018

1 reference

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The Sequence Alignment/Map format and SAMtools

12 July 2018

1 reference

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Fast and accurate short read alignment with Burrows-Wheeler transform

12 July 2018

1 reference

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The vertebrate primary cilium in development, homeostasis, and disease

12 July 2018

1 reference

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Next-generation sequencing: from basic research to diagnostics

12 July 2018

1 reference

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Polycystic kidney disease

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4315576

Characterization of large rearrangements in autosomal dominant polycystic kidney disease and the PKD1/TSC2 contiguous gene syndrome

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4315576

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4315576

Genotype-phenotype correlations in autosomal dominant and autosomal recessive polycystic kidney disease

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4315576

GATA: a graphic alignment tool for comparative sequence analysis

12 July 2018

1 reference

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Homologues to the first gene for autosomal dominant polycystic kidney disease are pseudogenes

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4315576

Diagnostic exome sequencing in persons with severe intellectual disability

12 July 2018

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Autosomal dominant polycystic kidney disease: comprehensive mutation analysis of PKD1 and PKD2 in 700 unrelated patients.

26 September 2018

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Perinatal deaths in a family with autosomal dominant polycystic kidney disease and a PKD2 mutation

26 September 2018

1 reference

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A complete mutation screen of the ADPKD genes by DHPLC

26 September 2018

1 reference

12 December 2020

Comprehensive molecular diagnostics in autosomal dominant polycystic kidney disease

1 reference

12 December 2020

How segmental duplications shape our genome: recent evolution of ABCC6 and PKD1 Mendelian disease genes

1 reference

12 December 2020

Mutations in WDR19 encoding the intraflagellar transport component IFT144 cause a broad spectrum of ciliopathies

1 reference

12 December 2020

10.1371/JOURNAL.PONE.0116680

Identifiers

DOI

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8 August 2017

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8 August 2017

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