(Q33682921)

28 July 2017

title

Detection of germline mutations in the von Hippel-Lindau disease gene by the primer specified restriction map modification method (English)

1 reference

von Hippel-Lindau disease

28 July 2017

main subject

1 reference

Kishida T

1

1 reference

28 July 2017

Chen F

series ordinal

2

1 reference

28 July 2017

Lerman MI

series ordinal

3

1 reference

28 July 2017

Zbar B

series ordinal

4

1 reference

28 July 2017

language of work or name

English

0 references

publication date

1 December 1995

1 reference

Journal of Medical Genetics

28 July 2017

published in

1 reference

28 July 2017

volume

32

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28 July 2017

issue

12

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28 July 2017

page(s)

938-941

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Identification of the von Hippel-Lindau disease tumor suppressor gene

28 July 2017

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051772

Detailed genetic mapping of the von Hippel-Lindau disease tumour suppressor gene

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051772

Von Hippel-Lindau disease: new strategies in early detection and treatment

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051772

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

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051772

Germ-line mutations in the von Hippel-Lindau tumor-suppressor gene are similar to somatic von Hippel-Lindau aberrations in sporadic renal cell carcinoma.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051772

Von Hippel-Lindau (VHL) disease with pheochromocytoma in the Black Forest region of Germany: evidence for a founder effect

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051772

Von Hippel-Lindau disease maps to the region of chromosome 3 associated with renal cell carcinoma

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051772

Modification of enzymatically amplified DNA for the detection of point mutations.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051772

von Hippel-Lindau disease affecting 43 members of a single kindred

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051772

Localization of the von Hippel-Lindau disease gene to a small region of chromosome 3.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051772

Genetic flanking markers refine diagnostic criteria and provide insights into the genetics of Von Hippel Lindau disease

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051772

Presymptomatic diagnosis of von Hippel-Lindau disease with flanking DNA markers

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051772

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

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051772

Specific mutations of the RET proto-oncogene are related to disease phenotype in MEN 2A and FMTC

30 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051772

Diagnosis of genetic disease by primer-specified restriction map modification, with application to cystic fibrosis and retinitis pigmentosa

30 October 2018

1 reference

12 December 2020

Mapping of the von Hippel-Lindau disease locus to a small region of chromosome 3p by genetic linkage analysis

1 reference

12 December 2020

Screening for von Hippel-Lindau disease by DNA polymorphism analysis

1 reference

12 December 2020

Ophthalmological screening for von Hippel-Lindau disease

1 reference

12 December 2020

Genetic linkage between von Hippel-Lindau disease and three microsatellite polymorphisms refines the localisation of the VHL locus

1 reference

12 December 2020

Germline RET mutations in MEN 2A and FMTC and their detection by simple DNA diagnostic tests

1 reference

12 December 2020

Direct, non-radioactive detection of mutations in Multiple Endocrine Neoplasia Type 2A families

1 reference

12 December 2020

Identifiers

DOI

10.1136/JMG.32.12.938

1 reference

28 July 2017

1 reference

28 July 2017

1 reference