(Q39498677)

12 September 2017

title

A de novo FLCN mutation in a patient with spontaneous pneumothorax and renal cancer; a clinical and molecular evaluation (English)

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12 September 2017

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Barry J Coull

13

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Pieter E Postmus

Pieter E Postmus

12

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Erik Thunnissen

Erik Thunnissen

6

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Paul C Johannesma

2

Paul C Johannesma

1 reference

12 September 2017

7

Arjan C Houweling

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12 September 2017

1

Fred H Menko

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12 September 2017

4

Rinze Reinhard

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12 September 2017

15

Johan J P Gille

1 reference

12 September 2017

Jeroen van Moorselaar

3

R Jeroen A van Moorselaar

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12 September 2017

author name string

Jan Hein van Waesberghe

5

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12 September 2017

Edward M Leter

8

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12 September 2017

Quinten Waisfisz

9

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12 September 2017

Martijn B van Doorn

10

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12 September 2017

Theo M Starink

11

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12 September 2017

Maurice A M van Steensel

14

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12 September 2017

publication date

1 September 2013

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12 September 2017

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12 September 2017

volume

12

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12 September 2017

issue

3

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12 September 2017

page(s)

373-379

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https://scigraph.springernature.com/pub.10.1007/s10689-012-9593-8

12 September 2017

exact match

0 references

cites work

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

1 reference

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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

21 January 2018

1 reference

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10689-012-9593-8

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10689-012-9593-8

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10689-012-9593-8

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10689-012-9593-8

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10689-012-9593-8

The folliculin mutation database: an online database of mutations associated with Birt-Hogg-Dubé syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10689-012-9593-8

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10689-012-9593-8

Molecular pathways involved in hair follicle tumor formation: all about mammalian target of rapamycin?

21 January 2018

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

21 January 2018

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https://api.crossref.org/works/10.1007%2FS10689-012-9593-8

Crystal structure of folliculin reveals a hidDENN function in genetically inherited renal cancer

21 January 2018

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Birt-Hogg-Dubé syndrome: diagnosis and management

21 January 2018

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Determining the frequency of de novo germline mutations in DNA mismatch repair genes

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10689-012-9593-8

Frequency and parental origin of de novo APC mutations in familial adenomatous polyposis

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10689-012-9593-8

Absence of the Birt-Hogg-Dubé gene product is associated with increased hypoxia-inducible factor transcriptional activity and a loss of metabolic flexibility

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10689-012-9593-8

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10689-012-9593-8

Spontaneous pneumothorax: epidemiology, pathophysiology and cause

21 January 2018

1 reference

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Primary spontaneous pneumothorax: a diffuse disease of the pleura

21 January 2018

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

21 January 2018

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Novel mutations in the folliculin gene associated with spontaneous pneumothorax.

21 January 2018

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

21 January 2018

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Cystic lung disease in Birt-Hogg-Dube syndrome.

21 January 2018

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Lung cysts in Birt-Hogg-Dubé syndrome: histopathological characteristics and aberrant sequence repeats.

21 January 2018

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https://api.crossref.org/works/10.1007%2FS10689-012-9593-8

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10689-012-9593-8

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/10.1007%2FS10689-012-9593-8

Pleuropulmonary pathology of Birt-Hogg-Dubé syndrome

21 January 2018

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12 December 2020

Hereditary Multiple Fibrofolliculomas With Trichodiscomas and Acrochordons

1 reference

12 December 2020

Risk of renal and colonic neoplasms and spontaneous pneumothorax 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

10.1007/S10689-012-9593-8

Identifiers

DOI

1 reference

12 September 2017

1 reference