(Q35855144)

10 August 2017

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

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10 August 2017

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11

Peter Choyke

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10 August 2017

Jorge R Toro

1

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10 August 2017

Stephen E Pautler

2

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10 August 2017

Laveta Stewart

3

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10 August 2017

Gladys M Glenn

4

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10 August 2017

Michael Weinreich

5

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10 August 2017

Ousmane Toure

6

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10 August 2017

Ming-Hui Wei

7

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10 August 2017

Laura S Schmidt

8

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10 August 2017

Lewis Davis

9

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10 August 2017

Berton Zbar

10

1 reference

10 August 2017

Seth M Steinberg

12

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10 August 2017

Dao M Nguyen

13

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10 August 2017

W Marston Linehan

14

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10 August 2017

language of work or name

English

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publication date

22 February 2007

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American Journal of Respiratory and Critical Care Medicine

10 August 2017

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10 August 2017

175

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10 August 2017

1044-1053

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10 August 2017

10

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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

10 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1899269

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

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1899269

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

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1899269

A germ-line insertion in the Birt-Hogg-Dubé (BHD) gene gives rise to the Nihon rat model of inherited renal cancer

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1899269

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

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1899269

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

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1899269

Spontaneous pneumothorax and alpha 1-antitrypsin deficiency.

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1899269

Familial primary spontaneous pneumothorax consistent with true autosomal dominant inheritance

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1899269

Spontaneous pneumothorax associated with tuberous sclerosis

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1899269

Pneumothorax in the Marfan syndrome: prevalence and therapy

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1899269

Spontaneous pneumothorax: a retrospective review of aetiology, pathogenesis and management

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1899269

Smoking and the increased risk of contracting spontaneous pneumothorax

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1899269

On the inheritance of primary spontaneous pneumothorax

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1899269

Hereditary Multiple Fibrofolliculomas With Trichodiscomas and Acrochordons

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1899269

Incidence of spontaneous pneumothorax in Olmsted County, Minnesota: 1950 to 1974

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1899269

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

11 July 2018

1 reference

https://api.crossref.org/works/10.1164%2FRCCM.200610-1483OC

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1164%2FRCCM.200610-1483OC

Expression of Birt-Hogg-Dubé gene mRNA in normal and neoplastic human tissues

21 January 2018

1 reference

https://api.crossref.org/works/10.1164%2FRCCM.200610-1483OC

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1164%2FRCCM.200610-1483OC

Nonparametric Estimation from Incomplete Observations

21 January 2018

1 reference

https://api.crossref.org/works/10.1164%2FRCCM.200610-1483OC

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1164%2FRCCM.200610-1483OC

Pleuropulmonary pathology of Birt-Hogg-Dubé syndrome.

21 January 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1899269

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

24 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1899269

Pneumothorax in Pulmonary Langerhans Cell Histiocytosis

24 September 2018

1 reference

https://api.crossref.org/works/10.1164%2FRCCM.200610-1483OC

Pneumothorax in cystic fibrosis

21 January 2018

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12 December 2020

Primary spontaneous pneumothorax in two siblings suggests autosomal recessive inheritance

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12 December 2020

Familial spontaneous pneumothorax

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12 December 2020

Pneumothorax in the Ehlers-Danlos syndrome

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12 December 2020

[Familial bullous disease of the lungs as a cause of spontaneous pneumothorax]

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12 December 2020

Bilateral spontaneous pneumothorax as the presenting feature in lymphangioleiomyomatosis

1 reference

12 December 2020

10.1164/RCCM.200610-1483OC

Identifiers

DOI

1 reference

10 August 2017

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10 August 2017

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