A 4-bp deletion in the Birt-Hogg-Dubé gene (FLCN) causes dominantly inherited spontaneous pneumothorax (Q33938690)

30 July 2017

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

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30 July 2017

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5

Kristiina Aittomäki

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author name string

Jodie N Painter

1

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30 July 2017

Hanna Tapanainen

2

1 reference

30 July 2017

Mirja Somer

3

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30 July 2017

Pentti Tukiainen

4

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30 July 2017

language of work or name

English

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publication date

18 January 2005

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30 July 2017

6

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American Journal of Human Genetics

inferred from page(s)

published in

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30 July 2017

76

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30 July 2017

522-527

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30 July 2017

3

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

30 July 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1196403

Analysis of the Birt-Hogg-Dubé (BHD) tumour suppressor gene in sporadic renal cell carcinoma and colorectal cancer

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1196403

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

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1196403

SPONTANEOUS PNEUMOTHORAX AND PULMONARY DISEASE IN THE MARFAN SYNDROME. REPORT OF TWO CASES AND REVIEW OF THE LITERATURE.

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1196403

On the progressive nature of emphysema: roles of proteases, inflammation, and mechanical forces

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1196403

5 July 2018

Hereditary renal cancers

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1196403

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

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1196403

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

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1196403

Spontaneous pneumothorax and alpha 1-antitrypsin deficiency.

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1196403

Familial primary spontaneous pneumothorax consistent with true autosomal dominant inheritance

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1196403

Current aspects of spontaneous pneumothorax

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1196403

Respiratory complications of Ehlers-Danlos syndrome type IV.

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1196403

Parametric and nonparametric linkage analysis: a unified multipoint approach

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1196403

Faster sequential genetic linkage computations

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1196403

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

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1196403

Mutation and cancer: statistical study of retinoblastoma

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1196403

Smoking and the increased risk of contracting spontaneous pneumothorax

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1196403

On the inheritance of primary spontaneous pneumothorax

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1196403

Hereditary Multiple Fibrofolliculomas With Trichodiscomas and Acrochordons

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1196403

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

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1196403

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

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1196403

Lack of mutation of the folliculin gene in sporadic chromophobe renal cell carcinoma and renal oncocytoma

29 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1196403

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

29 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1196403

Inactivation of BHD in sporadic renal tumors.

29 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1196403

Alterations of the Birt-Hogg-Dubé gene (BHD) in sporadic colorectal tumours

29 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1196403

Mutations of the Birt-Hogg-Dube (BHD) gene in sporadic colorectal carcinomas and colorectal carcinoma cell lines with microsatellite instability

29 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1196403

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

29 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1196403

29 October 2018

Spontaneous Pneumothorax

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1196403

Familial spontaneous pneumothorax in three generations and its HLA

29 October 2018

1 reference

12 December 2020

Familial spontaneous pneumothorax and HLA antigens

1 reference

12 December 2020

Chronic obstructive pulmonary disease

1 reference

12 December 2020

Primary spontaneous pneumothorax in two siblings suggests autosomal recessive inheritance

1 reference

12 December 2020

Blebs and/or bullae are of no importance and have no predictive value for recurrences in patients with primary spontaneous pneumothorax

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12 December 2020

Familial spontaneous pneumothorax

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12 December 2020

Onset of symptoms in spontaneous pneumothorax: correlations to physical activity

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12 December 2020

Identifiers

DOI

10.1086/428455

1 reference

30 July 2017

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30 July 2017

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