(Q37212294)

19 August 2017

1 reference

title

Head and neck paragangliomas in von Hippel-Lindau disease and multiple endocrine neoplasia type 2 (English)

1 reference

multiple endocrine neoplasia type 2

19 August 2017

1 reference

von Hippel-Lindau disease

inferred from title

1 reference

7

1 reference

19 August 2017

0 references

10

Ronald R de Krijger

1 reference

19 August 2017

12

José Gaal

1 reference

19 August 2017

Francien H van Nederveen

9

object named as

Francien H van Nederveen

1 reference

19 August 2017

21

Charis Eng

1 reference

19 August 2017

Carsten C Boedeker

1

1 reference

19 August 2017

Zoran Erlic

2

1 reference

19 August 2017

Stéphane Richard

3

1 reference

19 August 2017

Udo Kontny

4

1 reference

19 August 2017

Anne-Paule Gimenez-Roqueplo

5

1 reference

19 August 2017

Alberto Cascon

6

1 reference

19 August 2017

José M de Campos

8

1 reference

19 August 2017

Nelly Burnichon

11

1 reference

19 August 2017

Martin A Walter

13

1 reference

19 August 2017

Kirsten Reschke

14

1 reference

19 August 2017

Thorsten Wiech

15

1 reference

19 August 2017

Johannes Weber

16

1 reference

19 August 2017

Klaus Rückauer

17

1 reference

19 August 2017

Pierre Francois Plouin

18

1 reference

19 August 2017

Vincent Darrouzet

19

1 reference

19 August 2017

Sophie Giraud

20

1 reference

19 August 2017

Hartmut P H Neumann

22

1 reference

19 August 2017

language of work or name

English

0 references

publication date

31 March 2009

1 reference

The Journal of Clinical Endocrinology and Metabolism

19 August 2017

1 reference

19 August 2017

94

1 reference

19 August 2017

6

1 reference

19 August 2017

1938-1944

1 reference

Distinct clinical features of paraganglioma syndromes associated with SDHB and SDHD gene mutations

19 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2690424

Solid renal tumor severity in von Hippel Lindau disease is related to germline deletion length and location.

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2690424

A role for mitochondrial enzymes in inherited neoplasia and beyond

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2690424

Germ-line mutations in nonsyndromic pheochromocytoma

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2690424

Gene mutations in the succinate dehydrogenase subunit SDHB cause susceptibility to familial pheochromocytoma and to familial paraganglioma

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2690424

Mutations in SDHD, a mitochondrial complex II gene, in hereditary paraganglioma

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2690424

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

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2690424

Multiple paragangliomas in neurofibromatosis: a new neuroendocrine neoplasia

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2690424

Genomic imprinting in hereditary glomus tumours: evidence for new genetic theory

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2690424

Loss of the actin regulator HSPC300 results in clear cell renal cell carcinoma protection in Von Hippel-Lindau patients

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2690424

Clinical predictors for germline mutations in head and neck paraganglioma patients: cost reduction strategy in genetic diagnostic process as fall-out

14 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2690424

Uncommon clinical presentations of pheochromocytoma and paraganglioma in two different patients affected by two distinct novel VHL germline mutations

3 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2690424

Clinical presentation and penetrance of pheochromocytoma/paraganglioma syndromes.

3 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2690424

Genetic testing in pheochromocytoma or functional paraganglioma

3 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2690424

Predictors and prevalence of paraganglioma syndrome associated with mutations of the SDHC gene

3 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2690424

Mutations in SDHC cause autosomal dominant paraganglioma, type 3.

3 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2690424

Paraganglioma as a systemic syndrome: pitfalls and strategies.

3 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2690424

Metastatic carotid body paraganglioma in von Hippel-Lindau disease. An electron microscopic study.

3 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2690424

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

3 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2690424

Late-onset optic atrophy, ataxia, and myopathy associated with a mutation of a complex II gene

4 December 2018

1 reference

12 December 2020

Glomus tumor and multiple endocrine neoplasia

1 reference

12 December 2020

Neurofibromatosis. Conference statement. National Institutes of Health Consensus Development Conference

1 reference

12 December 2020

Familial pheochromocytoma associated with a novel mutation in the von Hippel-Lindau gene

1 reference

12 December 2020

Carotid body paraganglioma in von Hippel-Lindau disease: a rare association

1 reference

12 December 2020

Functioning carotid paraganglioma in the von Hippel-Lindau syndrome

1 reference

12 December 2020

Clinical and genetic characteristics of patients with neurofibromatosis type 1 and pheochromocytoma

1 reference

12 December 2020

Identifiers

DOI

10.1210/JC.2009-0354

1 reference

release_xruij5sq6jft7kk2qo3lzxnvxy

19 August 2017

1 reference

Fatcat

https://api.fatcat.wiki/v0/release/xruij5sq6jft7kk2qo3lzxnvxy

24 November 2022

mapped directly with Wikidata item

1 reference

19 August 2017

1 reference