(Q24677791)

polycystic kidney disease 1

inferred from title

1 reference

J R Sampson

0 references

M M Maheshwar

0 references

R Aspinwall

0 references

P Thompson

0 references

J P Cheadle

0 references

D Ravine

0 references

S Roy

0 references

E Haan

0 references

J Bernstein

0 references

P C Harris

American Journal of Human Genetics

0 references

language of work or name

English

0 references

publication date

October 1997

0 references

published in

0 references

volume

0 references

issue

0 references

page(s)

843-51

0 references

cites work

The polycystic kidney disease 1 (PKD1) gene encodes a novel protein with multiple cell recognition domains

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1716004

Evidence that the gene for tuberous sclerosis is on chromosome 9

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1716004

Linkage of an important gene locus for tuberous sclerosis to a chromosome 16 marker for polycystic kidney disease

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1716004

Prediction of creatinine clearance from serum creatinine

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1716004

Loss of the polycystic kidney disease (PKD1) region of chromosome 16p13 in renal cyst cells supports a loss-of-function model for cyst pathogenesis

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1716004

A cross sectional study of renal involvement in tuberous sclerosis

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1716004

Polycystin, the polycystic kidney disease 1 protein, is expressed by epithelial cells in fetal, adult, and polycystic kidney

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1716004

Screening the 3' region of the polycystic kidney disease 1 (PKD1) gene reveals six novel mutations

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1716004

Tuberous sclerosis and polycystic kidney disease

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1716004

Early presentation of tuberous sclerosis as bilateral renal cysts.

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1716004

Renal cystic disease in the tuberous sclerosis complex

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1716004

The kidney in the tuberous sclerosis complex

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1716004

Deletion of the TSC2 and PKD1 genes associated with severe infantile polycystic kidney disease--a contiguous gene syndrome

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1716004

Tuberous Sclerosis with Polycystic Kidneys

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1716004

Causes of Death in Patients With Tuberous Sclerosis

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1716004

Diagnostic criteria: tuberous sclerosis complex. Report of the Diagnostic Criteria Committee of the National Tuberous Sclerosis Association

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1716004

A simple estimate of glomerular filtration rate in children derived from body length and plasma creatinine

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1716004

The molecular basis of focal cyst formation in human autosomal dominant polycystic kidney disease type I.

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1716004

Splicing mutations of the polycystic kidney disease 1 (PKD1) gene induced by intronic deletion

28 November 2018

1 reference

12 December 2020

A novel nonsense mutation in the PKD1 gene (C3817T) is associated with autosomal dominant polycystic kidney disease (ADPKD) in a large three-generation Italian family

1 reference

12 December 2020

Cystic diseases of the kidney--radiological and pathological considerations

1 reference

12 December 2020

Tuberous sclerosis presenting as polycystic kidneys and seizures in an infant

1 reference

12 December 2020

The cystic renal lesion in tuberous sclerosis

1 reference

12 December 2020

A large inverted duplication allows homologous recombination between chromosomes heterozygous for the proximal t complex inversion

1 reference

12 December 2020

Rapid genetic analysis of families with polycystic kidney disease 1 by means of a microsatellite marker

1 reference

12 December 2020

Identification and characterization of the tuberous sclerosis gene on chromosome 16

1 reference

Crossref

https://api.crossref.org/works/10.1086%2F514888

7 January 2021

inferred from DOI database lookup

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

Crossref

https://api.crossref.org/works/10.1086%2F514888

7 January 2021

inferred from DOI database lookup

EVIDENCE THAT THE GENE FOR TUBEROUS SCLEROSIS IS ON CHROMOSOME 9

1 reference

Crossref

https://api.crossref.org/works/10.1086%2F514888

7 January 2021