(Q36930098)

17 August 2017

0 references

Increased risk of cancer in patients with fumarate hydratase germline mutation (English)

1 reference

17 August 2017

11

1 reference

17 August 2017

9

E Pukkala

1 reference

17 August 2017

H J Lehtonen

1

1 reference

17 August 2017

M Kiuru

2

1 reference

17 August 2017

S K Ylisaukko-Oja

3

1 reference

17 August 2017

R Salovaara

4

1 reference

17 August 2017

R Herva

5

1 reference

17 August 2017

P A Koivisto

6

1 reference

17 August 2017

O Vierimaa

7

1 reference

17 August 2017

K Aittomäki

8

1 reference

17 August 2017

V Launonen

10

1 reference

17 August 2017

language of work or name

English

0 references

publication date

9 September 2005

1 reference

Journal of Medical Genetics

17 August 2017

1 reference

17 August 2017

43

1 reference

17 August 2017

6

1 reference

17 August 2017

523-526

1 reference

Fumarate hydratase mutations and predisposition to cutaneous leiomyomas, uterine leiomyomas and renal cancer

17 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2564537

Novel mutations in FH and expansion of the spectrum of phenotypes expressed in families with hereditary leiomyomatosis and renal cell cancer

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2564537

Familial multiple cutaneous and uterine leiomyomas associated with papillary renal cell cancer.

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2564537

Succinate links TCA cycle dysfunction to oncogenesis by inhibiting HIF-alpha prolyl hydroxylase

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2564537

Hereditary leiomyomatosis and renal cell cancer (HLRCC).

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2564537

Searching for the hereditary causes of renal-cell carcinoma

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2564537

Prevalence and natural history of adrenal incidentalomas

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2564537

Mutations in the fumarate hydratase gene cause hereditary leiomyomatosis and renal cell cancer in families in North America

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2564537

Germline mutations in FH predispose to dominantly inherited uterine fibroids, skin leiomyomata and papillary renal cell cancer

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2564537

Familial cutaneous leiomyomatosis is a two-hit condition associated with renal cell cancer of characteristic histopathology

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2564537

Inherited susceptibility to uterine leiomyomas and renal cell cancer

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2564537

An ultrasound renal cyst prevalence survey: specificity data for inherited renal cystic diseases

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2564537

Fumarase deficiency: two siblings with enlarged cerebral ventricles and polyhydramnios in utero.

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2564537

Evidence of increased microvessel density and activation of the hypoxia pathway in tumours from the hereditary leiomyomatosis and renal cell cancer syndrome.

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2564537

A novel mutation of the fumarase gene in a family with autosomal recessive fumarase deficiency

4 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2564537

The prevalence of simple renal and hepatic cysts detected by spiral computed tomography.

4 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2564537

4 September 2018

[A simple renal cyst].

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2564537

Germline fumarate hydratase mutations and evidence for a founder mutation underlying multiple cutaneous and uterine leiomyomata

4 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2564537

Germline Fumarate Hydratase Mutations in Families with Multiple Cutaneous and Uterine Leiomyomata

4 December 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2564537

The natural history of simple renal cysts

4 December 2018

1 reference

12 December 2020

Genetic and functional analyses of FH mutations in multiple cutaneous and uterine leiomyomatosis, hereditary leiomyomatosis and renal cancer, and fumarate hydratase deficiency

1 reference

12 December 2020

Aging and simple cysts of the kidney

1 reference

12 December 2020

Clinical features of multiple cutaneous and uterine leiomyomatosis: an underdiagnosed tumor syndrome

1 reference

12 December 2020

Few FH mutations in sporadic counterparts of tumor types observed in hereditary leiomyomatosis and renal cell cancer families

1 reference

12 December 2020

Identifiers

DOI

10.1136/JMG.2005.036400

1 reference

17 August 2017

1 reference

17 August 2017

1 reference