(Q37693288)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28326182%20AND%20SRC:MED&resulttype=core&format=json

13 March 2020

title

Birt-Hogg-Dubé syndrome: a case report and a review of the literature (English)

1 reference

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13 March 2020

1 reference

3

1 reference

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13 March 2020

Mette Sommerlund

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28326182%20AND%20SRC:MED&resulttype=core&format=json

13 March 2020

Elisabeth Bendstrup

6

1 reference

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13 March 2020

author name string

Dea Kejlberg Jensen

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28326182%20AND%20SRC:MED&resulttype=core&format=json

13 March 2020

Anders Villumsen

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28326182%20AND%20SRC:MED&resulttype=core&format=json

13 March 2020

Mia Gebauer Madsen

4

1 reference

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13 March 2020

publication date

20 February 2017

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28326182%20AND%20SRC:MED&resulttype=core&format=json

European clinical respiratory journal

13 March 2020

published in

1 reference

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13 March 2020

volume

4

1 reference

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13 March 2020

issue

1

1 reference

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13 March 2020

page(s)

1292378

1 reference

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Creative Commons Attribution 4.0 International

13 March 2020

copyright license

start time

24 November 2020

1 reference

Crossref

https://api.crossref.org/v1/works/10.1080/20018525.2017.1292378

copyright status

copyrighted

1 reference

April 2022 Public Data File from Crossref

cites work

Risk of spontaneous pneumothorax due to air travel and diving in patients with Birt-Hogg-Dubé syndrome

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Tumor Suppressor Folliculin Regulates mTORC1 through Primary Cilia

23 August 2017

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Birt-Hogg-Dubé syndrome: a large single family cohort

23 August 2017

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23 August 2017

Benign follicular tumors

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The Birt-Hogg-Dubé cancer predisposition syndrome: Current challenges

23 August 2017

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Diffuse Cystic Lung Disease. Part II.

23 August 2017

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Folliculin-interacting proteins Fnip1 and Fnip2 play critical roles in kidney tumor suppression in cooperation with Flcn

23 August 2017

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23 August 2017

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Distinctive expression patterns of glycoprotein non-metastatic B and folliculin in renal tumors in patients with Birt-Hogg-Dubé syndrome

23 August 2017

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Renal cell tumour characteristics in patients with the Birt-Hogg-Dubé cancer susceptibility syndrome: a retrospective, multicentre study

23 August 2017

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Topical rapamycin as a treatment for fibrofolliculomas in Birt-Hogg-Dubé syndrome: a double-blind placebo-controlled randomized split-face trial

23 August 2017

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Characterization of pulmonary cysts in Birt-Hogg-Dubé syndrome: histopathological and morphometric analysis of 229 pulmonary cysts from 50 unrelated patients

23 August 2017

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Recruitment of folliculin to lysosomes supports the amino acid-dependent activation of Rag GTPases

23 August 2017

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Pulmonary manifestations of Birt-Hogg-Dubé syndrome.

23 August 2017

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Diagnosis and management of BHD-associated kidney cancer

23 August 2017

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Birt-Hogg-Dubé syndrome: report of a new mutation

23 August 2017

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Targeting the mTOR pathway in Chromophobe Kidney Cancer

23 August 2017

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

23 August 2017

1 reference

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Loss of the Birt-Hogg-Dubé tumor suppressor results in apoptotic resistance due to aberrant TGFβ-mediated transcription

23 August 2017

1 reference

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Inactivation of the FLCN tumor suppressor gene induces TFE3 transcriptional activity by increasing its nuclear localization

23 August 2017

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Management of spontaneous pneumothorax: British Thoracic Society Pleural Disease Guideline 2010.

23 August 2017

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

23 August 2017

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Latest treatments for spontaneous pneumothorax

23 August 2017

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Birt-Hogg-Dubé syndrome: diagnosis and management

23 August 2017

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

23 August 2017

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Renal tumour suppressor function of the Birt-Hogg-Dubé syndrome gene product folliculin

23 August 2017

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The role of the Birt-Hogg-Dubé protein in mTOR activation and renal tumorigenesis

23 August 2017

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Folliculin mutations are not associated with severe COPD.

23 August 2017

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Identification and characterization of a novel folliculin-interacting protein FNIP2

23 August 2017

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

23 August 2017

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

23 August 2017

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Folliculin encoded by the BHD gene interacts with a binding protein, FNIP1, and AMPK, and is involved in AMPK and mTOR signaling

23 August 2017

1 reference

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Management of pneumothorax in lymphangioleiomyomatosis: effects on recurrence and lung transplantation complications.

23 August 2017

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23 August 2017

Birt-Hogg-Dubé Syndrome

1 reference

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

23 August 2017

1 reference

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

23 August 2017

1 reference

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Birt-Hogg-Dubé syndrome: A review of the literature and the differential diagnosis of firm facial papules

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5345590

Common benign skin tumors.

23 August 2017

1 reference

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

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5345590

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

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5345590

Birt-Hogg-Dubé syndrome, a genodermatosis associated with spontaneous pneumothorax and kidney neoplasia, maps to chromosome 17p11.2.

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5345590

Parenchymal sparing surgery in patients with hereditary renal cell carcinoma: 10-year experience

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5345590

Treatment of Birt-Hogg-Dubé syndrome with erbium:YAG laser

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5345590

Hereditary Multiple Fibrofolliculomas With Trichodiscomas and Acrochordons

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5345590

Pulmonary features of Birt-Hogg-Dubé syndrome: cystic lesions and pulmonary histiocytoma.

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5345590

Genetic, epidemiologic and clinicopathologic studies of Japanese Asian patients with Birt-Hogg-Dubé syndrome

6 September 2017

1 reference

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Distinguishing the histological and radiological features of cystic lung disease in Birt-Hogg-Dubé syndrome from those of tobacco-related spontaneous pneumothorax

14 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5345590

Birt-Hogg-Dubé syndrome: clinical and genetic studies of 10 French families

23 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5345590

Renal oncocytosis: a clinicopathological and cytogenetic study of 42 tumours occurring in 11 patients.

23 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5345590

Pleural Covering Application for Recurrent Pneumothorax in a Patient with Birt-Hogg-Dubé Syndrome

1 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5345590

Disruption of tubular Flcn expression as a mouse model for renal tumor induction.

1 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5345590

Unique mutation, accelerated mTOR signaling and angiogenesis in the pulmonary cysts of Birt-Hogg-Dubé syndrome

1 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5345590

Pulmonary cysts of Birt-Hogg-Dubé syndrome: a clinicopathologic and immunohistochemical study of 9 families.

1 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5345590

Differentiation between Birt-Hogg-Dubé syndrome and lymphangioleiomyomatosis: quantitative analysis of pulmonary cysts on computed tomography of the chest in 66 females

1 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5345590

A new locus-specific database (LSDB) for mutations in the folliculin (FLCN) gene.

1 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5345590

Novel mutations in the folliculin gene associated with spontaneous pneumothorax.

1 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5345590

The distribution of histological subtypes of renal tumors by decade of life using the 2004 WHO classification.

1 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5345590

Radiological findings in Birt-Hogg-Dubé syndrome: a rare differential for pulmonary cysts and renal tumors.

1 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5345590

High frequency of somatic frameshift BHD gene mutations in Birt-Hogg-Dubé-associated renal tumors.

1 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5345590

A mutation in the canine BHD gene is associated with hereditary multifocal renal cystadenocarcinoma and nodular dermatofibrosis in the German Shepherd dog.

1 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5345590

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

1 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5345590

Birt-Hogg-Dubé syndrome: mapping of a novel hereditary neoplasia gene to chromosome 17p12-q11.2.

1 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5345590

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

1 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5345590

Renal Tumors in the Birt-Hogg-Dubé Syndrome

1 September 2018

1 reference

Crossref

https://api.crossref.org/works/10.1080%2F20018525.2017.1292378

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

21 January 2018

1 reference

12 December 2020

Letter: hyfrecation and curettage as a treatment for fibrofolliculomas in Birt-Hogg-Dube syndrome

1 reference

12 December 2020

Characteristics of pulmonary cysts in Birt-Hogg-Dubé syndrome: thin-section CT findings of the chest in 12 patients

1 reference

12 December 2020

Thoracic CT findings in Birt-Hogg-Dube syndrome

1 reference

12 December 2020

Fibrofolliculoma/trichodiscoma and fibrous papule (perifollicular fibroma/angiofibroma): a revaluation of the histopathological and immunohistochemical features

1 reference

12 December 2020

A novel familial germline mutation in the initiator codon of the BHD gene in a patient with Birt-Hogg-Dubé syndrome

1 reference

12 December 2020

The pathogenesis of pneumothorax in Birt-Hogg-Dubé syndrome: a hypothesis

1 reference

12 December 2020

Facial and Upper Body Papules in a Patient With a Family History of Recurrent Pneumothorax

1 reference

12 December 2020

10.1080/20018525.2017.1292378

Identifiers

DOI

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28326182%20AND%20SRC:MED&resulttype=core&format=json

13 March 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28326182%20AND%20SRC:MED&resulttype=core&format=json

13 March 2020

PubMed publication ID

28326182

1 reference