(Q35653949)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22146830%20AND%20SRC:MED&resulttype=core&format=json

18 January 2020

title

Renal cancer and pneumothorax risk in Birt-Hogg-Dubé syndrome; an analysis of 115 FLCN mutation carriers from 35 BHD families (English)

1 reference

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18 January 2020

1 reference

A C Houweling

1

1 reference

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18 January 2020

L M Gijezen

2

1 reference

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18 January 2020

M A Jonker

3

1 reference

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18 January 2020

M B A van Doorn

4

1 reference

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18 January 2020

R A Oldenburg

5

1 reference

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18 January 2020

K Y van Spaendonck-Zwarts

6

1 reference

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18 January 2020

E M Leter

7

1 reference

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18 January 2020

T A van Os

8

1 reference

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18 January 2020

N C T van Grieken

9

1 reference

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18 January 2020

E H Jaspars

10

1 reference

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18 January 2020

M M de Jong

11

1 reference

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18 January 2020

E M H F Bongers

12

1 reference

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18 January 2020

P C Johannesma

13

1 reference

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18 January 2020

R J A van Moorselaar

15

1 reference

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18 January 2020

J-Htm van Waesberghe

16

1 reference

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18 January 2020

T M Starink

17

1 reference

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18 January 2020

J J P Gille

19

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18 January 2020

F H Menko

20

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18 January 2020

language of work or name

English

0 references

publication date

1 December 2011

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22146830%20AND%20SRC:MED&resulttype=core&format=json

British Journal of Cancer

18 January 2020

published in

1 reference

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18 January 2020

volume

105

1 reference

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18 January 2020

issue

12

1 reference

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18 January 2020

page(s)

1912-1919

1 reference

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Identification of intragenic deletions and duplication in the FLCN gene in Birt-Hogg-Dubé syndrome.

18 January 2020

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3251884

Clinical and genetic spectrum of Birt-Hogg-Dube syndrome patients in whom pneumothorax and/or multiple lung cysts are the presenting feature

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3251884

Birt-Hogg-Dubé syndrome: diagnosis and management

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3251884

Homozygous loss of BHD causes early embryonic lethality and kidney tumor development with activation of mTORC1 and mTORC2

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3251884

2009 update on the classification of renal epithelial tumors in adults

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3251884

BHD mutations, clinical and molecular genetic investigations of Birt-Hogg-Dubé syndrome: a new series of 50 families and a review of published reports

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3251884

Lung cysts, spontaneous pneumothorax, and genetic associations in 89 families with Birt-Hogg-Dubé syndrome

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3251884

Germline BHD-mutation spectrum and phenotype analysis of a large cohort of families with Birt-Hogg-Dubé syndrome

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3251884

Clinical and genetic studies of Birt-Hogg-Dubé syndrome.

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3251884

Bilateral renal cell carcinoma in the Birt-Hogg-Dubé syndrome

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3251884

Hereditary Multiple Fibrofolliculomas With Trichodiscomas and Acrochordons

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3251884

Novel intronic germline FLCN gene mutation in a patient with multiple ipsilateral renal neoplasms

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3251884

Nonsense mutations in folliculin presenting as isolated familial spontaneous pneumothorax in adults.

25 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3251884

A 4-bp deletion in the Birt-Hogg-Dubé gene (FLCN) causes dominantly inherited spontaneous pneumothorax

25 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3251884

Mutations in a novel gene lead to kidney tumors, lung wall defects, and benign tumors of the hair follicle in patients with the Birt-Hogg-Dubé syndrome

25 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3251884

Risk of renal and colonic neoplasms and spontaneous pneumothorax in the Birt-Hogg-Dubé syndrome.

25 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3251884

Birt-Hogg-Dubé syndrome: a novel marker of kidney neoplasia.

25 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3251884

Renal Tumors in the Birt-Hogg-Dubé Syndrome

25 September 2018

1 reference

Crossref

https://api.crossref.org/works/10.1038%2FBJC.2011.463

Familial multiple trichodiscomas. A clinicopathologic study

21 January 2018

1 reference

12 December 2020

Familial multiple discoid fibromas: a look-alike of Birt-Hogg-Dubé syndrome not linked to the FLCN locus

1 reference

12 December 2020

Perifollicular fibromatosis cutis with polyps of the colon?a cutaneo-intestinal syndrome sui generis

1 reference

12 December 2020

Evaluation and management of renal tumors in the Birt-Hogg-Dubé syndrome

1 reference

12 December 2020

Birt-Hogg-Dubé syndrome: clinical and genetic studies of 20 families

1 reference

12 December 2020

Familial non-VHL clear cell (conventional) renal cell carcinoma: clinical features, segregation analysis, and mutation analysis of FLCN

1 reference

12 December 2020

Diagnostic problems in the subtyping of renal tumors encountered by five pathologists

1 reference

12 December 2020

[Spontaneous pneumothorax as the first manifestation of a hereditary condition with an increased renal cancer risk]

1 reference

12 December 2020

Investigation of the Birt-Hogg-Dube tumour suppressor gene (FLCN) in familial and sporadic colorectal cancer

1 reference

12 December 2020

Identifiers

DOI

10.1038/BJC.2011.463

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22146830%20AND%20SRC:MED&resulttype=core&format=json

18 January 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22146830%20AND%20SRC:MED&resulttype=core&format=json

18 January 2020

PubMed publication ID

22146830

1 reference