(Q36081160)

12 August 2017

A novel long-range PCR sequencing method for genetic analysis of the entire PKD1 gene (English)

1 reference

12 August 2017

Ying-Cai Tan

1

1 reference

12 August 2017

Alber Michaeel

2

1 reference

12 August 2017

Jon Blumenfeld

3

1 reference

12 August 2017

Stephanie Donahue

4

1 reference

12 August 2017

Tom Parker

5

1 reference

12 August 2017

Daniel Levine

6

1 reference

12 August 2017

Hanna Rennert

7

1 reference

12 August 2017

16 May 2012

1 reference

The Journal of Molecular Diagnostics

12 August 2017

1 reference

12 August 2017

14

1 reference

12 August 2017

4

1 reference

12 August 2017

305-313

1 reference

High-quality genomic DNA extraction from formalin-fixed and paraffin-embedded samples deparaffinized using mineral oil.

12 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3391417

Autosomal dominant polycystic kidney disease: the last 3 years

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3391417

Evaluation of next generation sequencing platforms for population targeted sequencing studies

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3391417

Autosomal dominant polycystic kidney disease: emerging concepts of pathogenesis and new treatments

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3391417

Evidence for pathogenicity of atypical splice mutations in autosomal dominant polycystic 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=3391417

Pretransplant genetic testing of live kidney donors at risk for autosomal dominant polycystic 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=3391417

Polycystic 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=3391417

Novel method for genomic analysis of PKD1 and PKD2 mutations in autosomal dominant polycystic 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=3391417

Chromosomal evolution of the PKD1 gene family in primates

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3391417

Formalin-fixed paraffin-embedded clinical tissues show spurious copy number changes in array-CGH profiles.

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3391417

Distribution and characterization of regulatory elements in the human genome

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3391417

Mutation analysis of the entire PKD1 gene: genetic and diagnostic implications

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3391417

Mutation nomenclature extensions and suggestions to describe complex mutations: a discussion

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3391417

Splicing defects in the ataxia-telangiectasia gene, ATM: underlying mutations and consequences

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3391417

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

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3391417

Primer-site SNPs mask mutations.

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3391417

Mutations affecting mRNA splicing are the most common molecular defects in patients with neurofibromatosis type 1.

23 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3391417

Epidemiology of adult polycystic kidney disease, Olmsted County, Minnesota: 1935-1980.

23 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3391417

A complete mutation screen of the ADPKD genes by DHPLC

23 September 2018

1 reference

12 December 2020

Genetic Heterogeneity of Polycystic Kidney Disease in Europe1

1 reference

12 December 2020

Polycystic kidney disease: The complete structure of the PKD1 gene and its protein

1 reference

12 December 2020

Bilateral polycystic disease of the kidneys; a follow-up of 284 patients and their families

1 reference

12 December 2020

Incident renal events and risk factors in autosomal dominant polycystic kidney disease: a population and family-based cohort followed for 22 years

1 reference

12 December 2020

10.1016/J.JMOLDX.2012.02.007

Identifiers

DOI

1 reference

12 August 2017

1 reference

12 August 2017

PubMed publication ID

22608885

1 reference