Rapid mutation scanning of genes associated with familial cancer syndromes using denaturing high-performance liquid chromatography (Q34779834)

4 August 2017

Rapid mutation scanning of genes associated with familial cancer syndromes using denaturing high-performance liquid chromatography (English)

1 reference

high-performance liquid chromatography

4 August 2017

1 reference

D J Marsh

1

1 reference

4 August 2017

G Theodosopoulos

2

1 reference

4 August 2017

V Howell

3

1 reference

4 August 2017

A L Richardson

4

1 reference

4 August 2017

D E Benn

5

1 reference

4 August 2017

A L Proos

6

1 reference

4 August 2017

C Eng

7

1 reference

4 August 2017

B G Robinson

8

1 reference

4 August 2017

1 May 2001

1 reference

4 August 2017

1 reference

4 August 2017

3

1 reference

4 August 2017

3

1 reference

4 August 2017

236-244

1 reference

Altered PTEN expression as a diagnostic marker for the earliest endometrial precancers

4 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1505599

The gene for multiple endocrine neoplasia type 1: recent findings.

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1505599

PTEN mutation spectrum and genotype-phenotype correlations in Bannayan-Riley-Ruvalcaba syndrome suggest a single entity with Cowden syndrome

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1505599

Germline PTEN mutations in Cowden syndrome-like families.

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1505599

Landscaping the cancer terrain

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1505599

Denaturing high performance liquid chromatography (DHPLC) used in the detection of germline and somatic mutations

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1505599

Somatic deletions and mutations in the Cowden disease gene, PTEN, in sporadic thyroid tumors.

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1505599

The role of MMAC1 mutations in early-onset breast cancer: causative in association with Cowden syndrome and excluded in BRCA1-negative cases.

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1505599

Disruption of the MMAC1/PTEN gene by deletion or mutation is a frequent event in malignant melanoma.

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1505599

Germline mutations in the PTEN/MMAC1 gene in patients with Cowden disease.

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1505599

Germline mutations in PTEN are present in Bannayan-Zonana syndrome.

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1505599

Germline mutations of the PTEN gene in Cowden disease, an inherited breast and thyroid cancer syndrome

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1505599

The relationship between specific RET proto-oncogene mutations and disease phenotype in multiple endocrine neoplasia type 2. International RET mutation consortium analysis

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1505599

Phenotypic expression in von Hippel-Lindau disease: correlations with germline VHL gene mutations

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1505599

Hereditary cancer: two hits revisited

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1505599

Identification of intragenic mutations in the von Hippel-Lindau disease tumour suppressor gene and correlation with disease phenotype

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1505599

Mutations of the VHL tumour suppressor gene in renal carcinoma

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1505599

A mutation in the RET proto-oncogene associated with multiple endocrine neoplasia type 2B and sporadic medullary thyroid carcinoma

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1505599

A comparison of fluorescent SSCP and denaturing HPLC for high throughput mutation scanning.

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1505599

Improved detection of germline mutations in the von Hippel-Lindau disease tumor suppressor gene

26 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1505599

PTEN/MMAC1 mutations identified in small cell, but not in non-small cell lung cancers.

26 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1505599

Germline mutations of the PTEN/MMAC1 gene in Japanese patients with Cowden disease.

26 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1505599

Molecular genetic analysis of von Hippel-Lindau disease.

26 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1505599

Deletion 10q23.2-q23.33 in a patient with gastrointestinal juvenile polyposis and other features of a Cowden-like syndrome.

26 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1505599

Mutation spectrum and genotype-phenotype analyses in Cowden disease and Bannayan-Zonana syndrome, two hamartoma syndromes with germline PTEN mutation

26 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1505599

Germline mutation of RET codon 883 in two cases of de novo MEN 2B.

26 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1505599

Mutations in the RET proto-oncogene are associated with MEN 2A and FMTC.

26 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1505599

DNA polymorphisms and conditions for SSCP analysis of the 20 exons of the ret proto-oncogene.

26 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1505599

Diverse phenotypes associated with exon 10 mutations of the RET proto-oncogene.

26 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1505599

Germline mutations in the von Hippel-Lindau disease tumor suppressor gene: correlations with phenotype

26 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1505599

Deletion of genes on chromosome 1 in endocrine neoplasia

26 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1505599

Optimal temperature selection for mutation detection by denaturing HPLC and comparison to single-stranded conformation polymorphism and heteroduplex analysis

9 December 2018

1 reference

12 December 2020

A comparison of BRCA1 mutation analysis by direct sequencing, SSCP and DHPLC

1 reference

12 December 2020

A highly sensitive, fast, and economical technique for mutation analysis in hereditary breast and ovarian cancers

1 reference

12 December 2020

Denaturing high-performance liquid chromatography detects reliably BRCA1 and BRCA2 mutations

1 reference

12 December 2020

Application and evaluation of denaturing HPLC for molecular genetic analysis in tuberous sclerosis

1 reference

12 December 2020

A Rapid Screening Method for the Detection of Mutations in the RET Proto-oncogene in Multiple Endocrine Neoplasia Type 2A and Familial Medullary Thyroid Carcinoma Families

1 reference

12 December 2020

Deletion of PTEN in a patient with Bannayan-Riley-Ruvalcaba syndrome suggests allelism with Cowden disease

1 reference

12 December 2020

Exclusion of PTEN and 10q22-24 as the susceptibility locus for juvenile polyposis syndrome

1 reference

12 December 2020

ONCOGENESIS: Landscaping the Cancer Terrain

1 reference

Crossref

https://api.crossref.org/works/10.1038%2FSJ.NEO.7900154

7 January 2021

inferred from DOI database lookup

Identifiers

DOI

10.1038/SJ.NEO.7900154

1 reference

4 August 2017

1 reference

4 August 2017

1 reference