The HNF1B score is a simple tool to select patients for HNF1B gene analysis (Q38217616)

31 August 2017

title

The HNF1B score is a simple tool to select patients for HNF1B gene analysis (English)

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31 August 2017

Joost P Schanstra

8

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author name string

Stanislas Faguer

1

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Nicolas Chassaing

2

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Flavio Bandin

3

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Cathie Prouheze

4

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Arnaud Garnier

5

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Audrey Casemayou

6

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Antoine Huart

7

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Patrick Calvas

9

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Stéphane Decramer

10

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Dominique Chauveau

11

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31 August 2017

language of work or name

English

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publication date

4 June 2014

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31 August 2017

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volume

86

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31 August 2017

issue

5

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31 August 2017

page(s)

1007-1015

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

31 August 2017

cites work

1 reference

https://api.crossref.org/works/10.1038%2FKI.2014.202

7 January 2021

Clinical spectrum associated with hepatocyte nuclear factor-1beta mutations

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https://api.crossref.org/works/10.1038%2FKI.2014.202

7 January 2021

Diagnosis, management, and prognosis of HNF1B nephropathy in adulthood

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https://api.crossref.org/works/10.1038%2FKI.2014.202

7 January 2021

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

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https://api.crossref.org/works/10.1038%2FKI.2014.202

7 January 2021

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

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https://api.crossref.org/works/10.1038%2FKI.2014.202

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1038%2FKI.2014.202

7 January 2021

HNF1B mutations associate with hypomagnesemia and renal magnesium wasting

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https://api.crossref.org/works/10.1038%2FKI.2014.202

7 January 2021

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

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https://api.crossref.org/works/10.1038%2FKI.2014.202

7 January 2021

Germline hepatocyte nuclear factor 1alpha and 1beta mutations in renal cell carcinomas.

1 reference

https://api.crossref.org/works/10.1038%2FKI.2014.202

7 January 2021

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

https://api.crossref.org/works/10.1038%2FKI.2014.202

7 January 2021

Hepatocyte nuclear factor-1beta gene deletions--a common cause of renal disease.

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https://api.crossref.org/works/10.1038%2FKI.2014.202

7 January 2021

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

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https://api.crossref.org/works/10.1038%2FKI.2014.202

7 January 2021

Should SIX2 be routinely tested in patients with isolated congenital abnormalities of kidneys and/or urinary tract (CAKUT)?

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https://api.crossref.org/works/10.1038%2FKI.2014.202

7 January 2021

Cystic kidney disease, chromophobe renal cell carcinoma and TCF2 (HNF1 beta) mutations

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https://api.crossref.org/works/10.1038%2FKI.2014.202

7 January 2021

Deletion 17q12 Is a Recurrent Copy Number Variant that Confers High Risk of Autism and Schizophrenia

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https://api.crossref.org/works/10.1038%2FKI.2014.202

7 January 2021

Autism in three patients with cystic or hyperechogenic kidneys and chromosome 17q12 deletion

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https://api.crossref.org/works/10.1038%2FKI.2014.202

7 January 2021

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

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https://api.crossref.org/works/10.1038%2FKI.2014.202

7 January 2021

Reduced pancreatic volume in hepatocyte nuclear factor 1A-maturity-onset diabetes of the young.

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https://api.crossref.org/works/10.1038%2FKI.2014.202

7 January 2021

Lack of pancreatic body and tail in HNF1B mutation carriers

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https://api.crossref.org/works/10.1038%2FKI.2014.202

7 January 2021

Prevalence of mutations in renal developmental genes in children with renal hypodysplasia: results of the ESCAPE study

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https://api.crossref.org/works/10.1038%2FKI.2014.202

7 January 2021

Best practice guidelines for the molecular genetic diagnosis of maturity-onset diabetes of the young

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https://api.crossref.org/works/10.1038%2FKI.2014.202

7 January 2021

The development and validation of a clinical prediction model to determine the probability of MODY in patients with young-onset diabetes.

1 reference

https://api.crossref.org/works/10.1038%2FKI.2014.202

7 January 2021

Mutations in the hepatocyte nuclear factor-1β (HNF1B) gene are common with combined uterine and renal malformations but are not found with isolated uterine malformations.

1 reference

https://api.crossref.org/works/10.1038%2FKI.2014.202

7 January 2021

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

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https://api.crossref.org/works/10.1038%2FKI.2014.202

7 January 2021

Neonatal Diabetes Mellitus and Neonatal Polycystic, Dysplastic Kidneys: Phenotypically Discordant Recurrence of a Mutation in the Hepatocyte Nuclear Factor-1β Gene Due to Germline Mosaicism

1 reference

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7 January 2021

Identifiers

DOI

10.1038/KI.2014.202

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Dimensions Publication ID

31 August 2017

1048813038

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