(Q38187900)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24526232%20AND%20SRC:MED&resulttype=core&format=json

7 March 2020

title

Potential genetic anticipation in hereditary leiomyomatosis-renal cell cancer (HLRCC) (English)

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7 March 2020

1

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7 March 2020

author name string

Chuen Seng Tan

2

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7 March 2020

Soo Chin Lee

3

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7 March 2020

Yvonne Yong

4

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7 March 2020

Aik Seng Ooi

5

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7 March 2020

Joanne Ngeow

6

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7 March 2020

Min Han Tan

7

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7 March 2020

publication date

1 June 2014

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7 March 2020

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7 March 2020

volume

13

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7 March 2020

issue

2

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7 March 2020

page(s)

281-289

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

7 March 2020

cites work

1 reference

https://api.crossref.org/works/10.1007%2FS10689-014-9703-X

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

21 January 2018

1 reference

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Familial renal cancer as an indicator of hereditary leiomyomatosis and renal cell cancer syndrome

21 January 2018

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Hereditary leiomyomatosis and renal cell cancer: an unusual and aggressive form of hereditary renal carcinoma

21 January 2018

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Hereditary leiomyomatosis and renal cell cancer presenting as metastatic kidney cancer at 18 years of age: implications for surveillance

21 January 2018

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Familial small cell carcinoma of the ovary.

21 January 2018

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German national case collection for familial pancreatic cancer (FaPaCa): ten years experience.

21 January 2018

1 reference

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Genetic Predisposition to Familial Nonmedullary Thyroid Cancer: An Update of Molecular Findings and State-of-the-Art Studies

21 January 2018

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Anticipation in familial cavernous angioma: ascertainment bias or genetic cause.

21 January 2018

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Anticipation in lynch syndrome: where we are where we go

21 January 2018

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Younger age of cancer initiation is associated with shorter telomere length in Li-Fraumeni syndrome.

21 January 2018

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Genetic anticipation is associated with telomere shortening in hereditary breast cancer.

21 January 2018

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Microsatellite instability in the peripheral blood leukocytes of HNPCC patients

21 January 2018

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Evidence against genetic anticipation in familial colorectal cancer.

21 January 2018

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A review of statistical methods for testing genetic anticipation: looking for an answer in Lynch syndrome

21 January 2018

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The FH mutation database: an online database of fumarate hydratase mutations involved in the MCUL (HLRCC) tumor syndrome and congenital fumarase deficiency

21 January 2018

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Advances in uterine leiomyoma research: conference overview, summary, and future research recommendations

21 January 2018

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High cumulative incidence of uterine leiomyoma in black and white women: ultrasound evidence

21 January 2018

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Hereditary leiomyomatosis and renal cell cancer: a syndrome associated with an aggressive form of inherited renal cancer

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10689-014-9703-X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10689-014-9703-X

Increased risk of cancer in patients with fumarate hydratase germline mutation

21 January 2018

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Strong family history of uterine leiomyomatosis warrants fumarate hydratase mutation screening

21 January 2018

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

21 January 2018

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

21 January 2018

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Inherited susceptibility to uterine leiomyomas and renal cell cancer

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10689-014-9703-X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10689-014-9703-X

Mutation screening of fumarate hydratase by multiplex ligation-dependent probe amplification: detection of exonic deletion in a patient with leiomyomatosis and renal cell cancer

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10689-014-9703-X

Conventional renal cancer in a patient with fumarate hydratase mutation

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10689-014-9703-X

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

21 January 2018

1 reference

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A case report of hereditary leiomyomatosis and renal cell cancer

21 January 2018

1 reference

12 December 2020

The syndrome of hereditary leiomyomatosis and renal cell cancer (HLRCC): The clinical features of an individual with a fumarate hydratase gene mutation

1 reference

12 December 2020

Two cases of type 2 segmental manifestation in a family with cutaneous leiomyomatosis

1 reference

12 December 2020

Familial Chronic Myeloproliferative Disorders: Clinical Phenotype and Evidence of Disease Anticipation

1 reference

12 December 2020

Fumarate hydratase inactivation in renal tumors: HIF1α, NRF2, and "cryptic targets" of transcription factors

1 reference

12 December 2020

Hereditary leiomyomatosis with renal cell carcinoma

1 reference

12 December 2020

Anticipation in familial chronic lymphocytic leukaemia

1 reference

12 December 2020

Evidence for a founder effect of the germline fumarate hydratase gene mutation R58P causing hereditary leiomyomatosis and renal cell cancer (HLRCC)

1 reference

12 December 2020

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

1 reference

12 December 2020

Anticipation in hereditary breast cancer

1 reference

12 December 2020

Evidence for genetic anticipation in hereditary non-polyposis colorectal cancer

1 reference

12 December 2020

10.1007/S10689-014-9703-X

Identifiers

DOI

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24526232%20AND%20SRC:MED&resulttype=core&format=json

Dimensions Publication ID

7 March 2020

1051260385

0 references

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24526232%20AND%20SRC:MED&resulttype=core&format=json