(Q46958521)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20091131%20AND%20SRC:MED&resulttype=core&format=json

17 January 2020

title

No evidence for a genetic modifier for renal cell cancer risk in HLRCC syndrome (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20091131%20AND%20SRC:MED&resulttype=core&format=json

hereditary leiomyomatosis and renal cell cancer syndrome

17 January 2020

main subject

1 reference

14

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20091131%20AND%20SRC:MED&resulttype=core&format=json

17 January 2020

Richard Houlston

15

1 reference

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17 January 2020

Lauri Aaltonen

19

1 reference

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17 January 2020

Rainer Lehtonen

21

1 reference

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17 January 2020

Auli Karhu

5

1 reference

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17 January 2020

Stéphane Richard

10

1 reference

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17 January 2020

18

Kristiina Aittomäki

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20091131%20AND%20SRC:MED&resulttype=core&format=json

17 January 2020

author name string

Pia Vahteristo

1

1 reference

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17 January 2020

Taru A Koski

2

1 reference

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17 January 2020

Laura Näätsaari

3

1 reference

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17 January 2020

Maija Kiuru

4

1 reference

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17 January 2020

Riitta Herva

6

1 reference

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17 January 2020

Satu-Leena Sallinen

7

1 reference

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17 January 2020

Outi Vierimaa

8

1 reference

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17 January 2020

Erik Björck

9

1 reference

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17 January 2020

Betty Gardie

11

1 reference

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17 January 2020

Didier Bessis

12

1 reference

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17 January 2020

Emmanuel Van Glabeke

13

1 reference

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17 January 2020

Leigha Senter

16

1 reference

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17 January 2020

Marja Hietala

17

1 reference

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17 January 2020

Virpi Launonen

20

1 reference

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17 January 2020

publication date

1 June 2010

1 reference

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17 January 2020

1 reference

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17 January 2020

volume

9

1 reference

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17 January 2020

issue

2

1 reference

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17 January 2020

page(s)

245-251

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20091131%20AND%20SRC:MED&resulttype=core&format=json

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

17 January 2020

cites work

1 reference

Crossref

https://api.crossref.org/works/10.1007%2FS10689-009-9312-2

Missense mutations in fumarate hydratase in multiple cutaneous and uterine leiomyomatosis and renal cell cancer

21 January 2018

1 reference

Crossref

https://api.crossref.org/works/10.1007%2FS10689-009-9312-2

Clinical manifestations of familial paraganglioma and phaeochromocytomas in succinate dehydrogenase B (SDH-B) gene mutation carriers

21 January 2018

1 reference

12 December 2020

Early-onset renal cell carcinoma as a novel extraparaganglial component of SDHB-associated heritable paraganglioma

1 reference

12 December 2020

Conventional renal cancer in a patient with fumarate hydratase mutation

1 reference

12 December 2020

Germline SDHB mutations and familial renal cell carcinoma.

1 reference

12 December 2020

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

1 reference

12 December 2020

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

1 reference

12 December 2020

Descent graphs in pedigree analysis: applications to haplotyping, location scores, and marker-sharing statistics

1 reference

12 December 2020

Inherited susceptibility to uterine leiomyomas and renal cell cancer

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

Allegro, a new computer program for multipoint linkage analysis

1 reference

12 December 2020

HIF overexpression correlates with biallelic loss of fumarate hydratase in renal cancer: novel role of fumarate in regulation of HIF stability

1 reference

12 December 2020

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

1 reference

12 December 2020

Increased risk of cancer in patients with fumarate hydratase germline mutation

1 reference

12 December 2020

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

1 reference

12 December 2020

Targeted inactivation of fh1 causes proliferative renal cyst development and activation of the hypoxia pathway

1 reference

12 December 2020

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

1 reference

12 December 2020

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

1 reference

12 December 2020

Multiple cutaneous and uterine leiomyomata resulting from missense mutations in the fumarate hydratase gene

1 reference

12 December 2020

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

1 reference

12 December 2020

HaploPainter: a tool for drawing pedigrees with complex haplotypes

1 reference

12 December 2020

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

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

Merlin--rapid analysis of dense genetic maps using sparse gene flow trees

1 reference

12 December 2020

Diffuse and segmental variants of cutaneous leiomyomatosis: novel mutations in the fumarate hydratase gene and review of the literature.

1 reference

12 December 2020

The morphologic spectrum of kidney tumors in hereditary leiomyomatosis and renal cell carcinoma (HLRCC) syndrome

1 reference

12 December 2020

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

1 reference

12 December 2020

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

1 reference

12 December 2020

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

1 reference

12 December 2020

The SDH mutation database: an online resource for succinate dehydrogenase sequence variants involved in pheochromocytoma, paraganglioma and mitochondrial complex II deficiency

1 reference

12 December 2020

Accumulation of Krebs cycle intermediates and over-expression of HIF1alpha in tumours which result from germline FH and SDH mutations

1 reference

12 December 2020

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

1 reference

12 December 2020

Localization of a gene (MCUL1) for multiple cutaneous leiomyomata and uterine fibroids to chromosome 1q42.3-q43.

1 reference

12 December 2020

10.1007/S10689-009-9312-2

Identifiers

DOI

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20091131%20AND%20SRC:MED&resulttype=core&format=json

17 January 2020

1 reference