Spectrum of HNF1B mutations in a large cohort of patients who harbor renal diseases (Q33888369)

29 July 2017

title

Spectrum of HNF1B mutations in a large cohort of patients who harbor renal diseases (English)

1 reference

29 July 2017

Vincent Morinière

0 references

Laurence Heidet

0 references

Vincent Guigonis

0 references

Corinne Antignac

0 references

Stéphane Decramer

1 reference

29 July 2017

Audrey Pawtowski

1 reference

29 July 2017

Flavio Bandin

1 reference

29 July 2017

Bertrand Knebelmann

1 reference

29 July 2017

Anne-Sophie Lebre

1 reference

29 July 2017

Stanislas Faguer

1 reference

29 July 2017

Rémi Salomon

1 reference

29 July 2017

publication date

8 April 2010

1 reference

Clinical Journal of the American Society of Nephrology

29 July 2017

published in

1 reference

29 July 2017

1 reference

29 July 2017

1 reference

29 July 2017

page(s)

1079-1090

1 reference

HNF1B mutations associate with hypomagnesemia and renal magnesium wasting

29 July 2017

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2879303

HNF-1beta regulates transcription of the PKD modifier gene Kif12

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2879303

TCF2 gene mutation leads to nephro-urological defects of unequal severity: an open question

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2879303

Regulation of tissue-specific expression of the human and mouse urate transporter 1 gene by hepatocyte nuclear factor 1 alpha/beta and DNA methylation

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2879303

Severe pancreas hypoplasia and multicystic renal dysplasia in two human fetuses carrying novel HNF1beta/MODY5 mutations

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2879303

Renal phenotypes related to hepatocyte nuclear factor-1beta (TCF2) mutations in a pediatric cohort

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2879303

A transcriptional network in polycystic kidney disease

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2879303

Atypical familial juvenile hyperuricemic nephropathy associated with a hepatocyte nuclear factor-1beta gene mutation

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2879303

Prediction of deleterious human alleles

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2879303

Variant hepatocyte nuclear factor 1 is required for visceral endoderm specification

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2879303

Mutation in hepatocyte nuclear factor–1β gene (TCF2) associated with MODY

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2879303

Mutations in hepatocyte nuclear factor-1beta and their related phenotypes

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2879303

Clinical spectrum associated with hepatocyte nuclear factor-1beta mutations

29 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2879303

Bile system morphogenesis defects and liver dysfunction upon targeted deletion of HNF1beta.

29 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2879303

Expression of the vHNF1/HNF1beta homeoprotein gene during mouse organogenesis.

29 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2879303

Anomalies of the TCF2 Gene Are the Main Cause of Fetal Bilateral Hyperechogenic Kidneys

29 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2879303

Detection of exon deletions and duplications of the mismatch repair genes in hereditary nonpolyposis colorectal cancer families using multiplex polymerase chain reaction of short fluorescent fragments

29 October 2018

1 reference

12 December 2020

Large genomic rearrangements in the hepatocyte nuclear factor-1beta (TCF2) gene are the most frequent cause of maturity-onset diabetes of the young type 5

1 reference

12 December 2020

Neonatal cholestatic jaundice as the first symptom of a mutation in the hepatocyte nuclear factor-1beta gene (HNF-1beta)

1 reference

12 December 2020

Variant hepatocyte nuclear factor 1 expression in the mouse genital tract

1 reference

12 December 2020

Identifiers

DOI

10.2215/CJN.06810909

1 reference

29 July 2017

1 reference

29 July 2017

1 reference