(Q40426083)

27 May 2018

title

Prevalence, birth incidence, and penetrance of von Hippel-Lindau disease (vHL) in Denmark (English)

1 reference

27 May 2018

von Hippel-Lindau disease

main subject

1 reference

1 reference

Esben Budtz-Jørgensen

3

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author name string

Marie Louise Mølgaard Binderup

1

1 reference

27 May 2018

Michael Galanakis

2

1 reference

27 May 2018

Michael Kosteljanetz

4

1 reference

27 May 2018

Marie Luise Bisgaard

5

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27 May 2018

publication date

14 December 2016

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27 May 2018

European Journal of Human Genetics

published in

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27 May 2018

volume

25

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27 May 2018

page(s)

301-307

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27 May 2018

issue

3

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27 May 2018

https://scigraph.springernature.com/pub.10.1038/ejhg.2016.173

exact match

0 references

cites work

Von Hippel-Lindau disease (vHL). National clinical guideline for diagnosis and surveillance in Denmark. 3rd edition

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5315510

Identification of 3 novel VHL germ-line mutations in Danish VHL patients

17 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5315510

The genetics of phaeochromocytoma: using clinical features to guide genetic testing.

17 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5315510

von Hippel-Lindau disease: a clinical and scientific review

17 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5315510

Genetic analysis of von Hippel-Lindau disease.

17 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5315510

Germline mutations in the von Hippel-Lindau (VHL) gene in patients from Poland: disease presentation in patients with deletions of the entire VHL gene

17 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5315510

Germ-line mutations in nonsyndromic pheochromocytoma

17 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5315510

VHL c.505 T>C mutation confers a high age related penetrance but no increased overall mortality

17 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5315510

Mosaicism in von Hippel-Lindau disease: lessons from kindreds with germline mutations identified in offspring with mosaic parents

17 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5315510

The impact of molecular genetic analysis of the VHL gene in patients with haemangioblastomas of the central nervous system

17 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5315510

A genetic register for von Hippel-Lindau disease

17 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5315510

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

17 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5315510

Von Hippel-Lindau disease: a genetic study

17 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5315510

Clustering of features of von Hippel-Lindau syndrome: evidence for a complex genetic locus

17 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5315510

Genetics of familial renal cancers.

17 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5315510

Surveillance in von Hippel-Lindau disease (vHL).

20 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5315510

Molecular analysis of de novo germline mutations in the von Hippel-Lindau disease gene.

20 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5315510

Life expectancy in hereditary cancer predisposing diseases: an observational study

20 August 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2016.173

Birth incidence and prevalence of tumor-prone syndromes: Estimates from a UK family genetic register service

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2016.173

Frequency of Von Hippel-Lindau germline mutations in classic and non-classic Von Hippel-Lindau disease identified by DNA sequencing, Southern blot analysis and multiplex ligation-dependent probe amplification

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2016.173

Von Hippel-Lindau disease germline mutations in Mexican patients with cerebellar hemangioblastoma

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2016.173

inferred from DOI database lookup

7 January 2021

based on heuristic

Identifiers

DOI

10.1038/EJHG.2016.173

1 reference

27 May 2018

Dimensions Publication ID

0 references

1 reference

27 May 2018

PubMed ID

27966541

1 reference

27 May 2018