Genetic basis of prune belly syndrome: screening for HNF1β gene (Q36102428)

12 August 2017

Genetic basis of prune belly syndrome: screening for HNF1β gene (English)

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12 August 2017

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Candace F Granberg

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12 August 2017

Steven M Harrison

2

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12 August 2017

Daniel Dajusta

3

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12 August 2017

Shaohua Zhang

4

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12 August 2017

Sachin Hajarnis

5

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12 August 2017

Peter Igarashi

6

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12 August 2017

Linda A Baker

7

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12 August 2017

language of work or name

English

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publication date

23 November 2011

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12 August 2017

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12 August 2017

187

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12 August 2017

272-278

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Recurrent reciprocal genomic rearrangements of 17q12 are associated with renal disease, diabetes, and epilepsy

12 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3399512

Roles of HNF-1beta in kidney development and congenital cystic diseases

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3399512

Patterns of inheritance in familial prune belly syndrome

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3399512

Mutation of hepatocyte nuclear factor-1beta inhibits Pkhd1 gene expression and produces renal cysts in mice

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3399512

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

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3399512

Renal cysts and diabetes syndrome linked to mutations of the hepatocyte nuclear factor-1 beta gene: description of a new family with associated liver involvement

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3399512

Recent insights into kidney diseases associated with glomerular cysts.

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3399512

Molecular mechanisms and clinical pathophysiology of maturity-onset diabetes of the young

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3399512

Mutations in the hepatocyte nuclear factor-1beta gene are associated with familial hypoplastic glomerulocystic kidney disease

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3399512

Siblings with prune belly syndrome and associated pulmonic stenosis, mental retardation, and deafness

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3399512

The prune belly anomaly: heterogeneity and superficial X-linkage mimicry

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3399512

The myopathology of the Prune belly syndrome.

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3399512

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.

2 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3399512

Contemporary epidemiology and characterization of newborn males with prune belly syndrome.

23 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3399512

Deletion of hepatocyte nuclear factor-1-beta in an infant with prune belly syndrome.

23 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3399512

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

23 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3399512

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

23 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3399512

Renal cysts and diabetes syndrome resulting from mutations in hepatocyte nuclear factor-1beta.

23 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3399512

Prune belly syndrome in two siblings and a first cousin. Possible genetic implications.

23 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3399512

Regulation of kidney-specific Ksp-cadherin gene promoter by hepatocyte nuclear factor-1beta

23 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3399512

Concordant prune belly syndrome in monozygotic twins

5 December 2018

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12 December 2020

Vertically transmitted hypoplasia of the abdominal wall musculature

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12 December 2020

Whole gene deletion of the hepatocyte nuclear factor-1beta gene in a patient with the prune-belly syndrome

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12 December 2020

Targeted comparative genomic hybridization array for the detection of single- and multiexon gene deletions and duplications

1 reference

12 December 2020

Prune belly syndrome. Possible genetic implications

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12 December 2020

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12 December 2020

[Congenital aplasia of the abdominal wall. A familial case]

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12 December 2020

[Prenatal diagnosis of prune belly syndrome occurring in siblings in 2 consecutive pregnancies]

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12 December 2020

Prune-belly syndrome: report of three siblings

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12 December 2020

10.1016/J.JURO.2011.09.036

Identifiers

DOI

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12 August 2017

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12 August 2017

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