(Q37678462)

21 August 2017

Whole-exome resequencing distinguishes cystic kidney diseases from phenocopies in renal ciliopathies (English)

1 reference

21 August 2017

1 reference

2

1 reference

21 August 2017

22

1 reference

21 August 2017

36

Gudrun Nürnberg

0 references

Udo Helmchen

32

Udo Helmchen

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Hanan M Fathy

Hanan M Fathy

23

0 references

Sabine Janssen

Sabine Janssen

16

0 references

Massimo Attanasio

Massimo Attanasio

34

0 references

Shawn Levy

Shawn Levy

41

0 references

Peter Nürnberg

37

Peter Nürnberg

1 reference

21 August 2017

Katrina A Diaz

9

0 references

Virginia Vega-Warner

7

Virginia Vega-Warner

1 reference

21 August 2017

31

Dorota Drozdz

1 reference

21 August 2017

Heon Yung Gee

1

1 reference

21 August 2017

Toby W Hurd

3

1 reference

21 August 2017

Shazia Ashraf

4

1 reference

21 August 2017

Moumita Chaki

5

1 reference

21 August 2017

Andrew Cluckey

6

1 reference

21 August 2017

Pawaree Saisawat

8

1 reference

21 August 2017

Humphrey Fang

10

1 reference

21 August 2017

Stefan Kohl

11

1 reference

21 August 2017

Susan J Allen

12

1 reference

21 August 2017

Rannar Airik

13

1 reference

21 August 2017

Weibin Zhou

14

1 reference

21 August 2017

Gokul Ramaswami

15

1 reference

21 August 2017

Clementine Fu

17

1 reference

21 August 2017

Jamie L Innis

18

1 reference

21 August 2017

Stefanie Weber

19

1 reference

21 August 2017

Udo Vester

20

1 reference

21 August 2017

Erica E Davis

21

1 reference

21 August 2017

Nikola Jeck

24

1 reference

21 August 2017

Gunther Klaus

25

1 reference

21 August 2017

Ahmet Nayir

26

1 reference

21 August 2017

Khawla A Rahim

27

1 reference

21 August 2017

Ibrahim Al Attrach

28

1 reference

21 August 2017

Ibrahim Al Hassoun

29

1 reference

21 August 2017

Savas Ozturk

30

1 reference

21 August 2017

Udo Helmchen

32

1 reference

21 August 2017

John F O'Toole

33

1 reference

21 August 2017

Richard A Lewis

35

1 reference

21 August 2017

Joseph Washburn

38

1 reference

21 August 2017

James MacDonald

39

1 reference

21 August 2017

Jeffrey W Innis

40

1 reference

21 August 2017

Friedhelm Hildebrandt

42

1 reference

21 August 2017

language of work or name

English

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publication date

20 November 2013

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21 August 2017

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21 August 2017

85

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21 August 2017

4

1 reference

21 August 2017

880-887

1 reference

https://scigraph.springernature.com/pub.10.1038/ki.2013.450

21 August 2017

0 references

cites work

Identification of 99 novel mutations in a worldwide cohort of 1,056 patients with a nephronophthisis-related ciliopathy

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3972265

Exome capture reveals ZNF423 and CEP164 mutations, linking renal ciliopathies to DNA damage response signaling

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3972265

Ciliopathies with skeletal anomalies and renal insufficiency due to mutations in the IFT-A gene WDR19

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3972265

Exome sequencing as a tool for Mendelian disease gene discovery

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3972265

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3972265

Carrier testing for severe childhood recessive diseases by next-generation sequencing

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3972265

Mutation analysis of 18 nephronophthisis associated ciliopathy disease genes using a DNA pooling and next generation sequencing strategy

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3972265

Candidate exome capture identifies mutation of SDCCAG8 as the cause of a retinal-renal ciliopathy

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3972265

Whole-genome sequencing in a patient with Charcot-Marie-Tooth neuropathy

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3972265

Identification of 11 novel mutations in eight BBS genes by high-resolution homozygosity mapping

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3972265

Targeted capture and massively parallel sequencing of 12 human exomes

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3972265

A systematic approach to mapping recessive disease genes in individuals from outbred populations

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3972265

Accurate whole human genome sequencing using reversible terminator chemistry

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3972265

NEK8 mutations affect ciliary and centrosomal localization and may cause nephronophthisis

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3972265

Novel mutations in NPHP4 in a consanguineous family with histological findings of focal segmental glomerulosclerosis

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3972265

Loss of GLIS2 causes nephronophthisis in humans and mice by increased apoptosis and fibrosis

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3972265

The ciliary gene RPGRIP1L is mutated in cerebello-oculo-renal syndrome (Joubert syndrome type B) and Meckel syndrome

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3972265

The Ciliopathies: An Emerging Class of Human Genetic Disorders

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3972265

The centrosomal protein nephrocystin-6 is mutated in Joubert syndrome and activates transcription factor ATF4

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3972265

Mutations in CEP290, which encodes a centrosomal protein, cause pleiotropic forms of Joubert syndrome

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3972265

Nephrocystin-5, a ciliary IQ domain protein, is mutated in Senior-Loken syndrome and interacts with RPGR and calmodulin

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3972265

Basal body dysfunction is a likely cause of pleiotropic Bardet-Biedl syndrome

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3972265

Mutations in INVS encoding inversin cause nephronophthisis type 2, linking renal cystic disease to the function of primary cilia and left-right axis determination

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3972265

Mutations in a novel gene, NPHP3, cause adolescent nephronophthisis, tapeto-retinal degeneration and hepatic fibrosis

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3972265

The gene mutated in juvenile nephronophthisis type 4 encodes a novel protein that interacts with nephrocystin

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3972265

A gene mutated in nephronophthisis and retinitis pigmentosa encodes a novel protein, nephroretinin, conserved in evolution

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3972265

Allegro, a new computer program for multipoint linkage analysis

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3972265

Parametric and nonparametric multipoint linkage analysis with imprinting and two-locus-trait models: application to mite sensitization

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3972265

A novel gene encoding an SH3 domain protein is mutated in nephronophthisis type 1

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3972265

Parametric and nonparametric linkage analysis: a unified multipoint approach

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3972265

Exome sequencing: dual role as a discovery and diagnostic tool

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3972265

Familial renal tubular acidosis.

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3972265

Nephronophthisis (medullary cystic disease of the kidney). A study using electron microscopy, immunofluorescence, and a review of the morphological findings.

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3972265

Ultrasound findings in juvenile nephronophthisis

14 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3972265

Contributions of the Transplant Registry: The 2006 Annual Report of the North American Pediatric Renal Trials and Collaborative Studies (NAPRTCS).

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3972265

Intra-familial clinical heterogeneity: absence of genotype-phenotype correlation in primary hyperoxaluria type 1 in Israel

1 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3972265

The nephronophthisis complex. A clinicopathologic study in children

1 September 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/24257694

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1038/KI.2013.450

1 reference

Dimensions Publication ID

21 August 2017

0 references

1 reference

21 August 2017

1 reference