(Q37374452)

20 August 2017

Characterization of large rearrangements in autosomal dominant polycystic kidney disease and the PKD1/TSC2 contiguous gene syndrome (English)

1 reference

autosomal dominant polycystic kidney disease

20 August 2017

0 references

autosomal dominant polycystic kidney

1 reference

9

W Patrick Niaudet

1 reference

20 August 2017

Mark B Consugar

1

1 reference

20 August 2017

Wai C Wong

2

1 reference

20 August 2017

Patrick A Lundquist

3

1 reference

20 August 2017

Sandro Rossetti

4

1 reference

20 August 2017

Vickie J Kubly

5

1 reference

20 August 2017

Denise L Walker

6

1 reference

20 August 2017

Laureano J Rangel

7

1 reference

20 August 2017

Richard Aspinwall

8

1 reference

20 August 2017

Seza Ozen

10

1 reference

20 August 2017

Albert David

11

1 reference

20 August 2017

Milen Velinov

12

1 reference

20 August 2017

Eric J Bergstralh

13

1 reference

20 August 2017

Kyongtae T Bae

14

1 reference

20 August 2017

Arlene B Chapman

15

1 reference

20 August 2017

Lisa M Guay-Woodford

16

1 reference

20 August 2017

Jared J Grantham

17

1 reference

20 August 2017

Vicente E Torres

18

1 reference

20 August 2017

Julian R Sampson

19

1 reference

20 August 2017

Brian D Dawson

20

1 reference

20 August 2017

Peter C Harris

21

1 reference

20 August 2017

CRISP Consortium

22

1 reference

20 August 2017

language of work or name

English

0 references

publication date

24 September 2008

1 reference

20 August 2017

1 reference

20 August 2017

74

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20 August 2017

11

1 reference

20 August 2017

1468-1479

1 reference

Progressive loss of renal function is an age-dependent heritable trait in type 1 autosomal dominant polycystic kidney disease

20 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2756756

ABCA3 gene mutations in newborns with fatal surfactant deficiency

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2756756

Large genomic deletions and duplications in the BRCA1 gene identified by a novel quantitative method

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2756756

Large deletion causing the TSC2-PKD1 contiguous gene syndrome without infantile polycystic disease

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2756756

Relative quantification of 40 nucleic acid sequences by multiplex ligation-dependent probe amplification

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2756756

Genome duplications and other features in 12 Mb of DNA sequence from human chromosome 16p and 16q

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2756756

A loss-of-function model for cystogenesis in human autosomal dominant polycystic kidney disease type 2.

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2756756

Renal cystic disease in tuberous sclerosis: role of the polycystic kidney disease 1 gene

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2756756

Identification of mutations in the duplicated region of the polycystic kidney disease 1 gene (PKD1) by a novel approach

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2756756

PKD2, a gene for polycystic kidney disease that encodes an integral membrane protein

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2756756

Identification and characterization of the tuberous sclerosis gene on chromosome 16

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2756756

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

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2756756

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

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2756756

Neonatal presentation of autosomal dominant polycystic kidney disease with a maternal history of tuberous sclerosis

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2756756

Somatic mutation in individual liver cysts supports a two-hit model of cystogenesis in autosomal dominant 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=2756756

Analysis of PKD1 for genomic deletion by multiplex ligation-dependent probe assay: absence of hot spots.

26 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2756756

Gross genomic rearrangement involving the TSC2-PKD1 contiguous deletion syndrome: characterization of the deletion event by quantitative polymerase chain reaction deletion assay.

2 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2756756

Tuberous sclerosis complex and polycystic kidney disease together: an exception to the contiguous gene syndrome.

2 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2756756

Polycystic kidneys and del (4)(q21.1q21.3): further delineation of a distinct phenotype.

2 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2756756

Tuberous sclerosis and polycystic kidney disease in a 3-month-old infant

2 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2756756

Acrofacial dysostosis in a patient with the TSC2-PKD1 contiguous gene syndrome

2 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2756756

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

2 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2756756

Identification of 54 large deletions/duplications in TSC1 and TSC2 using MLPA, and genotype-phenotype correlations

2 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2756756

Large deletions in the polycystic kidney disease 1 (PKD1) gene

3 December 2018

1 reference

12 December 2020

A large TSC2 and PKD1 gene deletion is associated with renal and extrarenal signs of autosomal dominant polycystic kidney disease

1 reference

12 December 2020

Facilitated diagnosis of the contiguous gene syndrome: Tuberous sclerosis and polycystic kidneys by means of haplotype studies

1 reference

12 December 2020

Mutational analysis of the TSC1 and TSC2 genes in a diagnostic setting: genotype--phenotype correlations and comparison of diagnostic DNA techniques in Tuberous Sclerosis Complex

1 reference

12 December 2020

Volume progression in polycystic kidney disease

1 reference

12 December 2020

Autosomal dominant polycystic kidney disease

1 reference

12 December 2020

Comprehensive molecular diagnostics in autosomal dominant polycystic kidney disease

1 reference

12 December 2020

Mosaicism in autosomal dominant polycystic kidney disease revealed by genetic testing to enable living related renal transplantation

1 reference

12 December 2020

A complete mutation screen of the ADPKD genes by DHPLC

1 reference

12 December 2020

Identifiers

DOI

10.1038/KI.2008.485

1 reference

Dimensions Publication ID

20 August 2017

0 references

1 reference

20 August 2017

PubMed publication ID

18818683

1 reference