(Q53040221)

English

Hereditary leiomyomatosis and renal cell cancer syndrome: identification and clinical characterization of a novel mutation in the FH gene in a Colombian family.

scientific article published in January 2017

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scholarly article

1 reference

Europe PubMed Central

PubMed publication ID

10 May 2018

http://europepmc.org/abstract/MED/27566483

Hereditary leiomyomatosis and renal cell cancer syndrome: identification and clinical characterization of a novel mutation in the FH gene in a Colombian family. (English)

1 reference

Europe PubMed Central

PubMed publication ID

10 May 2018

http://europepmc.org/abstract/MED/27566483

hereditary leiomyomatosis and renal cell cancer syndrome

0 references

author name string

Carolina Arenas Valencia

1

1 reference

Europe PubMed Central

PubMed publication ID

10 May 2018

http://europepmc.org/abstract/MED/27566483

Martha Lucia Rodríguez López

2

1 reference

Europe PubMed Central

PubMed publication ID

10 May 2018

http://europepmc.org/abstract/MED/27566483

Andrea Yimena Cardona Barreto

3

1 reference

Europe PubMed Central

PubMed publication ID

10 May 2018

http://europepmc.org/abstract/MED/27566483

Edgar Garavito Rodríguez

4

1 reference

Europe PubMed Central

PubMed publication ID

10 May 2018

http://europepmc.org/abstract/MED/27566483

Clara Eugenia Arteaga Díaz

5

1 reference

Europe PubMed Central

PubMed publication ID

10 May 2018

http://europepmc.org/abstract/MED/27566483

publication date

1 January 2017

1 reference

Europe PubMed Central

PubMed publication ID

10 May 2018

http://europepmc.org/abstract/MED/27566483

Familial Cancer

1 reference

Europe PubMed Central

PubMed publication ID

10 May 2018

http://europepmc.org/abstract/MED/27566483

16

1 reference

Europe PubMed Central

PubMed publication ID

10 May 2018

http://europepmc.org/abstract/MED/27566483

1

1 reference

Europe PubMed Central

PubMed publication ID

10 May 2018

http://europepmc.org/abstract/MED/27566483

117-122

1 reference

Europe PubMed Central

PubMed publication ID

10 May 2018

http://europepmc.org/abstract/MED/27566483

https://scigraph.springernature.com/pub.10.1007/s10689-016-9922-4

0 references

Hereditary leiomyomatosis and renal cell cancer in families referred for fumarate hydratase germline mutation analysis

1 reference

https://api.crossref.org/works/10.1007%2FS10689-016-9922-4

21 January 2018

Hereditary leiomyomatosis and renal cell carcinoma

1 reference

https://api.crossref.org/works/10.1007%2FS10689-016-9922-4

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1007%2FS10689-016-9922-4

21 January 2018

Sequential treatments in hereditary leiomyomatosis and renal cell carcinoma (HLRCC): Case report and review of the literature

1 reference

https://api.crossref.org/works/10.1007%2FS10689-016-9922-4

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1007%2FS10689-016-9922-4

21 January 2018

Molecular pathways: Fumarate hydratase-deficient kidney cancer--targeting the Warburg effect in cancer

1 reference

https://api.crossref.org/works/10.1007%2FS10689-016-9922-4

21 January 2018

Aberrant succination of proteins in fumarate hydratase-deficient mice and HLRCC patients is a robust biomarker of mutation status

1 reference

https://api.crossref.org/works/10.1007%2FS10689-016-9922-4

21 January 2018

Renal cyst formation in Fh1-deficient mice is independent of the Hif/Phd pathway: roles for fumarate in KEAP1 succination and Nrf2 signaling

1 reference

https://api.crossref.org/works/10.1007%2FS10689-016-9922-4

21 January 2018

Hereditary leiomyomatosis and renal cell cancer (HLRCC): renal cancer risk, surveillance and treatment

1 reference

https://api.crossref.org/works/10.1007%2FS10689-016-9922-4

21 January 2018

Ethical and policy issues in genetic testing and screening of children

1 reference

https://api.crossref.org/works/10.1007%2FS10689-016-9922-4

21 January 2018

No evidence for a genetic modifier for renal cell cancer risk in HLRCC syndrome.

1 reference

https://api.crossref.org/works/10.1007%2FS10689-016-9922-4

21 January 2018

Natural 10-year history of simple renal cysts

1 reference

https://api.crossref.org/works/10.1007%2FS10689-016-9922-4

21 January 2018

Hereditary leiomyomatosis associated with bilateral, massive, macronodular adrenocortical disease and atypical cushing syndrome: a clinical and molecular genetic investigation

1 reference

https://api.crossref.org/works/10.1007%2FS10689-016-9922-4

21 January 2018

Increased risk of cancer in patients with fumarate hydratase germline mutation

1 reference

https://api.crossref.org/works/10.1007%2FS10689-016-9922-4

21 January 2018

Hereditary leiomyomatosis and renal cell carcinoma: very early diagnosis of renal cancer in a paediatric patient

1 reference

https://api.crossref.org/works/10.1007%2FS10689-016-9922-4

21 January 2018

Adult Leydig Cell Tumors of the Testis Caused by Germline Fumarate Hydratase Mutations

1 reference

https://api.crossref.org/works/10.1007%2FS10689-016-9922-4

21 January 2018

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/27566483

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/27566483

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/27566483

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Multiple cutaneous and uterine leiomyomas associated with gastric GIST

1 reference

https://pubmed.ncbi.nlm.nih.gov/27566483

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1007/S10689-016-9922-4

1 reference

Europe PubMed Central

PubMed publication ID

10 May 2018

http://europepmc.org/abstract/MED/27566483

PubMed publication ID

1 reference

Europe PubMed Central

PubMed publication ID

10 May 2018

http://europepmc.org/abstract/MED/27566483

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