(Q37330869)

English

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

scientific article published on 07 September 2011

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scholarly article

1 reference

Europe PubMed Central

19 August 2017

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

1 reference

Europe PubMed Central

19 August 2017

0 references

10

1 reference

Europe PubMed Central

19 August 2017

Virginia Vega-Warner

3

object named as

Virginia Vega-Warner

1 reference

Europe PubMed Central

19 August 2017

Elijah O Kehinde

4

object named as

Elijah O Kehinde

1 reference

Europe PubMed Central

19 August 2017

author name string

Pawaree Saisawat

1

1 reference

Europe PubMed Central

19 August 2017

Velibor Tasic

2

1 reference

Europe PubMed Central

19 August 2017

Barbara Günther

5

1 reference

Europe PubMed Central

19 August 2017

Rannar Airik

6

1 reference

Europe PubMed Central

19 August 2017

Jeffrey W Innis

7

1 reference

Europe PubMed Central

19 August 2017

Bethan E Hoskins

8

1 reference

Europe PubMed Central

19 August 2017

Julia Hoefele

9

1 reference

Europe PubMed Central

19 August 2017

Friedhelm Hildebrandt

11

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Europe PubMed Central

19 August 2017

language of work or name

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publication date

7 September 2011

1 reference

Europe PubMed Central

19 August 2017

Kidney International

1 reference

Europe PubMed Central

19 August 2017

81

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Europe PubMed Central

19 August 2017

2

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Europe PubMed Central

19 August 2017

196-200

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Europe PubMed Central

19 August 2017

https://scigraph.springernature.com/pub.10.1038/ki.2011.315

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3836012

6 September 2017

Mutation analysis in Bardet-Biedl syndrome by DNA pooling and massively parallel resequencing in 105 individuals

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3836012

6 September 2017

Next generation sequencing for clinical diagnostics-principles and application to targeted resequencing for hypertrophic cardiomyopathy: a paper from the 2009 William Beaumont Hospital Symposium on Molecular Pathology

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3836012

6 September 2017

Fras1, a basement membrane-associated protein mutated in Fraser syndrome, mediates both the initiation of the mammalian kidney and the integrity of renal glomeruli

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3836012

6 September 2017

SIX2 and BMP4 mutations associate with anomalous kidney development

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3836012

6 September 2017

Fraser syndrome: a clinical study of 59 cases and evaluation of diagnostic criteria

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3836012

6 September 2017

Disruption of ROBO2 is associated with urinary tract anomalies and confers risk of vesicoureteral reflux

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3836012

6 September 2017

Identification of a new gene mutated in Fraser syndrome and mouse myelencephalic blebs

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3836012

6 September 2017

SIX1 mutations cause branchio-oto-renal syndrome by disruption of EYA1-SIX1-DNA complexes

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3836012

6 September 2017

Fras1 deficiency results in cryptophthalmos, renal agenesis and blebbed phenotype in mice

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3836012

6 September 2017

Fraser syndrome and mouse blebbed phenotype caused by mutations in FRAS1/Fras1 encoding a putative extracellular matrix protein

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3836012

6 September 2017

Fraser syndrome and cryptophthalmos: review of the diagnostic criteria and evidence for phenotypic modules in complex malformation syndromes

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3836012

6 September 2017

Human non-synonymous SNPs: server and survey

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3836012

6 September 2017

Paradigm shift from classic anatomic theories to contemporary cell biological views of CAKUT.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3836012

6 September 2017

Toward an etiological classification of developmental disorders of the kidney and upper urinary tract

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3836012

6 September 2017

Murine homolog of SALL1 is essential for ureteric bud invasion in kidney development

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3836012

6 September 2017

A molecular and genetic view of human renal and urinary tract malformations.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3836012

6 September 2017

Eya1-deficient mice lack ears and kidneys and show abnormal apoptosis of organ primordia

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3836012

6 September 2017

Mutations in the SALL1 putative transcription factor gene cause Townes-Brocks syndrome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3836012

6 September 2017

Clustering of mutations responsible for branchio-oto-renal (BOR) syndrome in the eyes absent homologous region (eyaHR) of EYA1

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3836012

6 September 2017

Molecular study of 33 families with Fraser syndrome new data and mutation review.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3836012

2 September 2018

Missense mutations in EYA1 and TCF2 are a rare cause of urinary tract malformations

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3836012

2 September 2018

Expression of a truncated Sall1 transcriptional repressor is responsible for Townes-Brocks syndrome birth defects

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3836012

2 September 2018

Fraser syndrome due to homozygosity for a splice site mutation of FREM2

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3836012

20 October 2018

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10.1038/KI.2011.315

1 reference

Europe PubMed Central

19 August 2017

1 reference

Europe PubMed Central

19 August 2017

1 reference

Europe PubMed Central

19 August 2017

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