Cryptic von Hippel-Lindau disease: germline mutations in patients with haemangioblastoma only (Q35433886)

8 August 2017

title

Cryptic von Hippel-Lindau disease: germline mutations in patients with haemangioblastoma only (English)

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von Hippel-Lindau disease

8 August 2017

main subject

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F J Hes

1

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8 August 2017

S McKee

2

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8 August 2017

M J Taphoorn

3

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8 August 2017

P Rehal

4

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8 August 2017

R B van Der Luijt

5

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8 August 2017

R McMahon

6

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8 August 2017

J J van Der Smagt

7

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8 August 2017

D Dow

8

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8 August 2017

R A Zewald

9

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8 August 2017

J Whittaker

10

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8 August 2017

C J Lips

11

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8 August 2017

F MacDonald

12

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8 August 2017

P L Pearson

13

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8 August 2017

E R Maher

14

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8 August 2017

language of work or name

English

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publication date

1 December 2000

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Journal of Medical Genetics

8 August 2017

published in

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8 August 2017

volume

37

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8 August 2017

issue

12

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8 August 2017

page(s)

939-943

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LINDAU'S DISEASE. REVIEW OF THE LITERATURE AND STUDY OF A LARGE KINDRED.

8 August 2017

cites work

1 reference

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

12 July 2018

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Germline mutation profile of the VHL gene in von Hippel-Lindau disease and in sporadic hemangioblastoma.

12 July 2018

1 reference

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An analysis of phenotypic variation in the familial cancer syndrome von Hippel-Lindau disease: evidence for modifier effects

12 July 2018

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Somatic mosaicism: a common cause of classic disease in tumor-prone syndromes? Lessons from type 2 neurofibromatosis

12 July 2018

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Haemangioblastoma of the central nervous system in von Hippel-Lindau disease. French VHL Study Group

12 July 2018

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Treatment of hemangioblastomas in von Hippel-Lindau disease with linear accelerator-based radiosurgery

12 July 2018

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Loss of heterozygosity and somatic mutations of the VHL tumor suppressor gene in sporadic cerebellar hemangioblastomas.

12 July 2018

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Putative control of angiogenesis in hemangioblastomas by the von Hippel-Lindau tumor suppressor gene.

12 July 2018

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Genetic predisposition to phaeochromocytoma: analysis of candidate genes GDNF, RET and VHL.

12 July 2018

1 reference

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von Hippel-Lindau gene deletion detected in the stromal cell component of a cerebellar hemangioblastoma associated with von Hippel-Lindau disease

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1734505

Germline mutations in the Von Hippel-Lindau disease (VHL) gene in families from North America, Europe, and Japan

12 July 2018

1 reference

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Pathology, genetics and cell biology of hemangioblastomas.

12 July 2018

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Genotype-phenotype correlation in von Hippel-Lindau disease: identification of a mutation associated with VHL type 2A

12 July 2018

1 reference

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

12 July 2018

1 reference

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Molecular genetic diagnosis of von Hippel-Lindau disease in familial phaeochromocytoma

12 July 2018

1 reference

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Identification of the von Hippel-Lindau disease tumor suppressor gene

12 July 2018

1 reference

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

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1734505

Mutations of the VHL tumour suppressor gene in renal carcinoma

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1734505

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

12 July 2018

1 reference

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Cerebellar haemangioblastoma and von Hippel-Lindau disease

12 July 2018

1 reference

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Hemangioblastomas of the central nervous system. A 10-year study with special reference to von Hippel-Lindau syndrome

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1734505

Statistical analysis of the two stage mutation model in von Hippel-Lindau disease, and in sporadic cerebellar haemangioblastoma and renal cell carcinoma

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1734505

Von Hippel-Lindau disease: a genetic study

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1734505

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

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1734505

Gamma knife radiosurgery in 11 hemangioblastomas

26 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1734505

Detection of a germline mutation and somatic homozygous loss of the von Hippel-Lindau tumor-suppressor gene in a family with a de novo mutation. A combined genetic study, including cytogenetics, PCR/SSCP, FISH, and CGH.

26 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1734505

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

26 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1734505

Preoperative embolization of brain and spinal hemangioblastomas.

26 September 2018

1 reference

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[Does hemangioblastoma exist outside von Hippel-Lindau disease?]

26 September 2018

1 reference

12 December 2020

Consequences of direct genetic testing for germline mutations in the clinical management of families with multiple endocrine neoplasia, type II

1 reference

12 December 2020

Radiosurgery for hemangioblastoma: Results of a multiinstitutional experience

1 reference

12 December 2020

Mutation of the Von Hippel-Lindau tumour suppressor gene in capillary haemangioblastomas of the central nervous system

1 reference

12 December 2020

von Hippel-Lindau disease

1 reference

12 December 2020

Identifiers

DOI

10.1136/JMG.37.12.939

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8 August 2017

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8 August 2017

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