(Q38219045)

31 August 2017

title

Next-generation sequencing for research and diagnostics in kidney disease (English)

1 reference

31 August 2017

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24914583%20AND%20SRC:MED&resulttype=core&format=json

7 June 2020

Marijn F Stokman

series ordinal

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24914583%20AND%20SRC:MED&resulttype=core&format=json

7 June 2020

Rachel H Giles

series ordinal

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24914583%20AND%20SRC:MED&resulttype=core&format=json

7 June 2020

4

Nine V A M Knoers

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24914583%20AND%20SRC:MED&resulttype=core&format=json

7 June 2020

language of work or name

English

0 references

publication date

10 June 2014

1 reference

Nature Reviews Nephrology

31 August 2017

published in

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24914583%20AND%20SRC:MED&resulttype=core&format=json

7 June 2020

volume

10

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24914583%20AND%20SRC:MED&resulttype=core&format=json

7 June 2020

issue

8

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24914583%20AND%20SRC:MED&resulttype=core&format=json

7 June 2020

page(s)

433-444

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24914583%20AND%20SRC:MED&resulttype=core&format=json

Current advances in chronic kidney disease in children: growth, cardiovascular, and neurocognitive risk factors

7 June 2020

cites work

1 reference

https://api.crossref.org/works/10.1038%2FNRNEPH.2014.95

21 January 2018

Genetic kidney diseases

1 reference

https://api.crossref.org/works/10.1038%2FNRNEPH.2014.95

Diagnosis and screening of autosomal dominant polycystic kidney disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRNEPH.2014.95

High NPHP1 and NPHP6 mutation rate in patients with Joubert syndrome and nephronophthisis: potential epistatic effect of NPHP6 and AHI1 mutations in patients with NPHP1 mutations

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRNEPH.2014.95

Evidence of Oligogenic Inheritance in Nephronophthisis

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRNEPH.2014.95

A rapid method for determining sequences in DNA by primed synthesis with DNA polymerase

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRNEPH.2014.95

DNA sequencing with chain-terminating inhibitors

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRNEPH.2014.95

Identification of mutations in the repeated part of the autosomal dominant polycystic kidney disease type 1 gene, PKD1, by long-range PCR.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRNEPH.2014.95

Exome sequencing as a tool for Mendelian disease gene discovery

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRNEPH.2014.95

Pathogenic or not? Assessing the clinical relevance of copy number variants

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRNEPH.2014.95

The advent of personal genome sequencing

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRNEPH.2014.95

Clinical application of exome sequencing in undiagnosed genetic conditions

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRNEPH.2014.95

Clinical whole-exome sequencing for the diagnosis of mendelian disorders

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRNEPH.2014.95

Unlocking Mendelian disease using exome sequencing

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRNEPH.2014.95

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRNEPH.2014.95

Mutation discovery by targeted genomic enrichment of multiplexed barcoded samples

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRNEPH.2014.95

Combining target enrichment with barcode multiplexing for high throughput SNP discovery

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRNEPH.2014.95

Multiplexed array-based and in-solution genomic enrichment for flexible and cost-effective targeted next-generation sequencing

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRNEPH.2014.95

Systematic comparison of three genomic enrichment methods for massively parallel DNA sequencing

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRNEPH.2014.95

Methods for genomic partitioning

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRNEPH.2014.95

Genome sequencing: a systematic review of health economic evidence

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRNEPH.2014.95

Application of exome sequencing in the search for genetic causes of rare disorders of copper metabolism

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRNEPH.2014.95

Disease gene identification strategies for exome sequencing

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRNEPH.2014.95

Exome sequencing greatly expedites the progressive research of Mendelian diseases

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRNEPH.2014.95

Integrating common and rare genetic variation in diverse human populations

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRNEPH.2014.95

The origins, patterns and implications of human spontaneous mutation

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRNEPH.2014.95

Rare variants in complex traits: novel identification strategies and the role of de novo mutations

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRNEPH.2014.95

De novo mutations in human genetic disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRNEPH.2014.95

Diagnostic exome sequencing in persons with severe intellectual disability

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRNEPH.2014.95

A de novo paradigm for mental retardation.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRNEPH.2014.95

De novo gene mutations highlight patterns of genetic and neural complexity in schizophrenia.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRNEPH.2014.95

Genic intolerance to functional variation and the interpretation of personal genomes

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRNEPH.2014.95

Actionable, pathogenic incidental findings in 1,000 participants' exomes

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRNEPH.2014.95

Disclosure of incidental findings from next-generation sequencing in pediatric genomic research

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRNEPH.2014.95

To tell or not to tell? A systematic review of ethical reflections on incidental findings arising in genetics contexts.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRNEPH.2014.95

Ethical, legal, and counseling challenges surrounding the return of genetic results in oncology

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRNEPH.2014.95

Disclosure of individual genetic data to research participants: the debate reconsidered

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRNEPH.2014.95

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRNEPH.2014.95

Molecular diagnosis of autosomal dominant polycystic kidney disease using next-generation sequencing

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRNEPH.2014.95

Whole-genome analysis reveals that mutations in inositol polyphosphate phosphatase-like 1 cause opsismodysplasia

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRNEPH.2014.95

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRNEPH.2014.95

Genetic diagnosis by whole exome capture and massively parallel DNA sequencing

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRNEPH.2014.95

Molecular genetic testing and the future of clinical genomics

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRNEPH.2014.95

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRNEPH.2014.95

Cilia and developmental signaling

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRNEPH.2014.95

Liver and kidney disease in ciliopathies

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRNEPH.2014.95

Mechanisms of nephronophthisis and related ciliopathies

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRNEPH.2014.95

Nephronophthisis: disease mechanisms of a ciliopathy

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRNEPH.2014.95

Ultrasound findings in juvenile nephronophthisis

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRNEPH.2014.95

From the radiologic pathology archives: pediatric polycystic kidney disease and other ciliopathies: radiologic-pathologic correlation

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRNEPH.2014.95

Clinical characterization and NPHP1 mutations in nephronophthisis and associated ciliopathies: a single center experience

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRNEPH.2014.95

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRNEPH.2014.95

Nephronophthisis: a genetically diverse ciliopathy

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRNEPH.2014.95

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRNEPH.2014.95

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRNEPH.2014.95

High-throughput mutation analysis in patients with a nephronophthisis-associated ciliopathy applying multiplexed barcoded array-based PCR amplification and next-generation sequencing

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRNEPH.2014.95

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRNEPH.2014.95

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRNEPH.2014.95

Expanding horizons: ciliary proteins reach beyond cilia

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRNEPH.2014.95

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRNEPH.2014.95

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRNEPH.2014.95

Evolutionarily assembled cis-regulatory module at a human ciliopathy locus

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRNEPH.2014.95

Joubert syndrome 2 (JBTS2) in Ashkenazi Jews is associated with a TMEM216 mutation

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRNEPH.2014.95

Conditional knockdown of DNA methyltransferase 1 reveals a key role of retinal pigment epithelium integrity in photoreceptor outer segment morphogenesis

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRNEPH.2014.95

Whole genome sequencing in patients with retinitis pigmentosa reveals pathogenic DNA structural changes and NEK2 as a new disease gene

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRNEPH.2014.95

Paper 4: EUROCAT statistical monitoring: identification and investigation of ten year trends of congenital anomalies in Europe

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRNEPH.2014.95

Early risk factors for neonatal mortality in CAKUT: analysis of 524 affected newborns

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRNEPH.2014.95

Social consequences in adult life of end-stage renal disease in childhood.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRNEPH.2014.95

Severe prenatal renal anomalies associated with mutations in HNF1B or PAX2 genes.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRNEPH.2014.95

Mutation in hepatocyte nuclear factor-1 beta gene (TCF2) associated with MODY.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRNEPH.2014.95

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRNEPH.2014.95

Kidney development: two tales of tubulogenesis

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRNEPH.2014.95

Renal abnormalities and their developmental origin

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRNEPH.2014.95

Integrin alpha 8 recessive mutations are responsible for bilateral renal agenesis in humans

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRNEPH.2014.95

Five cases of severe vesico-ureteric reflux in a family with an X-linked compatible trait

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRNEPH.2014.95

Autosomal dominant inheritance of non-syndromic renal hypoplasia and dysplasia: dramatic variation in clinical severity in a single kindred

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRNEPH.2014.95

Copy-number disorders are a common cause of congenital kidney malformations

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRNEPH.2014.95

TNXB mutations can cause vesicoureteral reflux

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRNEPH.2014.95

Mutations in DSTYK and dominant urinary tract malformations

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRNEPH.2014.95

Renal hypodysplasia associates with a WNT4 variant that causes aberrant canonical WNT signaling

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRNEPH.2014.95

FGF9 and FGF20 maintain the stemness of nephron progenitors in mice and man.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRNEPH.2014.95

Islet1 deletion causes kidney agenesis and hydroureter resembling CAKUT.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRNEPH.2014.95

Identification of two novel CAKUT-causing genes by massively parallel exon resequencing of candidate genes in patients with unilateral renal agenesis

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRNEPH.2014.95

Lithium causes G2 arrest of renal principal cells

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRNEPH.2014.95

Mapping the NPHP-JBTS-MKS protein network reveals ciliopathy disease genes and pathways

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRNEPH.2014.95

NEK8 links the ATR-regulated replication stress response and S phase CDK activity to renal ciliopathies

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRNEPH.2014.95

Birt-Hogg-Dube syndrome is a novel ciliopathy

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRNEPH.2014.95

Zebrafish: a model system for the study of vertebrate renal development, function, and pathophysiology.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRNEPH.2014.95

Chemical genetic screening in the zebrafish embryo

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRNEPH.2014.95

Mutations in LRRC50 predispose zebrafish and humans to seminomas

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRNEPH.2014.95

Disruption of Bardet-Biedl syndrome ciliary proteins perturbs planar cell polarity in vertebrates

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRNEPH.2014.95

Zebrafish assays of ciliopathies

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRNEPH.2014.95

Calcium/NFAT signalling promotes early nephrogenesis

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRNEPH.2014.95

Development of an siRNA-based method for repressing specific genes in renal organ culture and its use to show that the Wt1 tumour suppressor is required for nephron differentiation.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRNEPH.2014.95

Lgr5(+ve) stem/progenitor cells contribute to nephron formation during kidney development.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRNEPH.2014.95

iPS cells: a game changer for future medicine

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRNEPH.2014.95

piggyBac transposition reprograms fibroblasts to induced pluripotent stem cells

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRNEPH.2014.95

A versatile, highly efficient, and potentially safer piggyBac transposon system for mammalian genome manipulations

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRNEPH.2014.95

Genetic engineering of human pluripotent cells using TALE nucleases

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRNEPH.2014.95

Directing human embryonic stem cell differentiation towards a renal lineage generates a self-organizing kidney

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRNEPH.2014.95

The ciliopathy-associated protein homologs RPGRIP1 and RPGRIP1L are linked to cilium integrity through interaction with Nek4 serine/threonine kinase.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRNEPH.2014.95

Disruption of intraflagellar protein transport in photoreceptor cilia causes Leber congenital amaurosis in humans and mice

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRNEPH.2014.95

Revolution of nephrology research by deep sequencing: ChIP-seq and RNA-seq

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRNEPH.2014.95

The SYSCILIA gold standard (SCGSv1) of known ciliary components and its applications within a systems biology consortium

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRNEPH.2014.95

Exome sequencing: dual role as a discovery and diagnostic tool

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRNEPH.2014.95

The Human Phenotype Ontology: a tool for annotating and analyzing human hereditary disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRNEPH.2014.95

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRNEPH.2014.95

The mTOR pathway is regulated by polycystin-1, and its inhibition reverses renal cystogenesis in polycystic kidney disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRNEPH.2014.95

Primary cilia and kidney injury: current research status and future perspectives

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRNEPH.2014.95

Restoration of renal function in zebrafish models of ciliopathies

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRNEPH.2014.95

Chemical modifier screen identifies HDAC inhibitors as suppressors of PKD models

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRNEPH.2014.95

Ectopic expression of human BBS4 can rescue Bardet-Biedl syndrome phenotypes in Bbs4 null mice

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRNEPH.2014.95

New tides: using zebrafish to study renal regeneration

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRNEPH.2014.95

Identifying modifier genes of monogenic disease: strategies and difficulties.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRNEPH.2014.95

BBS mutations modify phenotypic expression of CEP290-related ciliopathies

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRNEPH.2014.95

An investigation into the empowerment effects of using online support groups and how this affects health professional/patient communication

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRNEPH.2014.95

A novel gene that encodes a protein with a putative src homology 3 domain is a candidate gene for familial juvenile nephronophthisis

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRNEPH.2014.95

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRNEPH.2014.95

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRNEPH.2014.95

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRNEPH.2014.95

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRNEPH.2014.95

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRNEPH.2014.95

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRNEPH.2014.95

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRNEPH.2014.95

NEK8 mutations affect ciliary and centrosomal localization and may cause nephronophthisis

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRNEPH.2014.95

TTC21B contributes both causal and modifying alleles across the ciliopathy spectrum

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRNEPH.2014.95

Defects in the IFT-B component IFT172 cause Jeune and Mainzer-Saldino syndromes in humans

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRNEPH.2014.95

A Post-Hoc Comparison of the Utility of Sanger Sequencing and Exome Sequencing for the Diagnosis of Heterogeneous Diseases

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRNEPH.2014.95

Discordant phenotype in monozygotic twins with renal coloboma syndrome and a PAX2 mutation

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRNEPH.2014.95

MMP-1 and -3 haplotype is associated with congenital anomalies of the kidney and urinary tract

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRNEPH.2014.95

Clinical characteristics and outcomes of children with stage 3-5 chronic kidney disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRNEPH.2014.95

Rapid detection of monogenic causes of childhood-onset steroid-resistant nephrotic syndrome

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRNEPH.2014.95

Infantile chronic tubulo-interstitial nephritis with cortical microcysts: variant of nephronophthisis or new disease entity?

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRNEPH.2014.95

The nephronophthisis complex. A clinicopathologic study in children

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRNEPH.2014.95

High frequency of kidney and urinary tract anomalies in asymptomatic first-degree relatives of patients with CAKUT

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRNEPH.2014.95

Mutations in 12 known dominant disease-causing genes clarify many congenital anomalies of the kidney and urinary tract

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRNEPH.2014.95

Prevalence of genetic renal disease in children

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRNEPH.2014.95

Novel perspectives for investigating congenital anomalies of the kidney and urinary tract (CAKUT)

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRNEPH.2014.95

Whole-exome resequencing reveals recessive mutations in TRAP1 in individuals with CAKUT and VACTERL association

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRNEPH.2014.95

Rapid and efficient differentiation of human pluripotent stem cells into intermediate mesoderm that forms tubules expressing kidney proximal tubular markers

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRNEPH.2014.95

Inhibition of renal cystic disease development and progression by a vasopressin V2 receptor antagonist

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRNEPH.2014.95

Effective treatment of an orthologous model of autosomal dominant polycystic kidney disease

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRNEPH.2014.95

A family study and the natural history of prenatally detected unilateral multicystic dysplastic kidney

31 March 2020

1 reference

12 December 2020

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

1 reference

12 December 2020

Urinary tract pacemaker cells: current knowledge and insights from nonrenal pacemaker cells provide a basis for future discovery

1 reference

12 December 2020

The polycystic kidney disease 1 gene encodes a 14 kb transcript and lies within a duplicated region on chromosome 16. The European Polycystic Kidney Disease Consortium

1 reference

12 December 2020

A polycystic kidney-disease gene homologue required for male mating behaviour in C. elegans

1 reference

12 December 2020

Identifiers

DOI

10.1038/NRNEPH.2014.95

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24914583%20AND%20SRC:MED&resulttype=core&format=json

Dimensions Publication ID

7 June 2020

1039667932

0 references

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24914583%20AND%20SRC:MED&resulttype=core&format=json