(Q34308406)

English

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

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scholarly article

1 reference

Europe PubMed Central

PubMed publication ID

1 August 2017

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

1 reference

Europe PubMed Central

PubMed publication ID

1 August 2017

1 reference

based on heuristic

inferred from title

Birt-Hogg-Dube syndrome

1 reference

based on heuristic

inferred from title

1 reference

based on heuristic

inferred from title

author name string

Makiko Kunogi

1

1 reference

Europe PubMed Central

PubMed publication ID

1 August 2017

Masatoshi Kurihara

2

1 reference

Europe PubMed Central

PubMed publication ID

1 August 2017

Takako Shigihara Ikegami

3

1 reference

Europe PubMed Central

PubMed publication ID

1 August 2017

Toshiyuki Kobayashi

4

1 reference

Europe PubMed Central

PubMed publication ID

1 August 2017

Noriko Shindo

5

1 reference

Europe PubMed Central

PubMed publication ID

1 August 2017

Toshio Kumasaka

6

1 reference

Europe PubMed Central

PubMed publication ID

1 August 2017

Yoko Gunji

7

1 reference

Europe PubMed Central

PubMed publication ID

1 August 2017

Mika Kikkawa

8

1 reference

Europe PubMed Central

PubMed publication ID

1 August 2017

Shin-ichiro Iwakami

9

1 reference

Europe PubMed Central

PubMed publication ID

1 August 2017

Okio Hino

10

1 reference

Europe PubMed Central

PubMed publication ID

1 August 2017

Kazuhisa Takahashi

11

1 reference

Europe PubMed Central

PubMed publication ID

1 August 2017

Kuniaki Seyama

12

1 reference

Europe PubMed Central

PubMed publication ID

1 August 2017

language of work or name

0 references

publication date

1 April 2010

1 reference

Europe PubMed Central

PubMed publication ID

1 August 2017

Journal of Medical Genetics

1 reference

Europe PubMed Central

PubMed publication ID

1 August 2017

47

1 reference

Europe PubMed Central

PubMed publication ID

1 August 2017

4

1 reference

Europe PubMed Central

PubMed publication ID

1 August 2017

281-287

1 reference

Europe PubMed Central

PubMed publication ID

1 August 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2981024

6 July 2018

Interaction of folliculin (Birt-Hogg-Dubé gene product) with a novel Fnip1-like (FnipL/Fnip2) protein

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2981024

6 July 2018

Identification and characterization of a novel folliculin-interacting protein FNIP2

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2981024

6 July 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2981024

6 July 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2981024

6 July 2018

Large deletions of the PROS1 gene in a large fraction of mutation-negative patients with protein S deficiency.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2981024

6 July 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2981024

6 July 2018

Detection of large deletions in the LDL receptor gene with quantitative PCR methods

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2981024

6 July 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2981024

6 July 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2981024

6 July 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2981024

6 July 2018

Relative quantification of 40 nucleic acid sequences by multiplex ligation-dependent probe amplification

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2981024

6 July 2018

Molecular analysis of the APC gene in 71 Israeli families: 17 novel mutations

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2981024

6 July 2018

Mutation analysis of BRCA1 gene in African-American patients with breast cancer.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2981024

6 July 2018

Mutation nomenclature extensions and suggestions to describe complex mutations: a discussion

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2981024

6 July 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2981024

6 July 2018

Hereditary Multiple Fibrofolliculomas With Trichodiscomas and Acrochordons

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2981024

6 July 2018

Identification of large gene deletions and duplications in KCNQ1 and KCNH2 in patients with long QT syndrome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2981024

28 October 2018

Mutations of the Birt Hogg Dube gene in patients with multiple lung cysts and recurrent pneumothorax

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2981024

28 October 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2981024

28 October 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2981024

28 October 2018

Rapid detection of VHL exon deletions using real-time quantitative PCR.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2981024

28 October 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2981024

28 October 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2981024

28 October 2018

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/20413710

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

APC gene mutations causing familial adenomatous polyposis in Polish patients

1 reference

https://pubmed.ncbi.nlm.nih.gov/20413710

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

A Japanese family with multiple lung cysts and recurrent pneumothorax: a possibility of Birt-Hogg-Dubé syndrome

1 reference

https://pubmed.ncbi.nlm.nih.gov/20413710

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/20413710

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

[Haber's syndrome. First French family (2 cases)]

1 reference

https://pubmed.ncbi.nlm.nih.gov/20413710

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

BRCA1 and BRCA2 mutations in a study of African American breast cancer patients

1 reference

https://pubmed.ncbi.nlm.nih.gov/20413710

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Detection of germline deletions using real-time quantitative polymerase chain reaction in Japanese patients with von Hippel-Lindau disease

1 reference

https://pubmed.ncbi.nlm.nih.gov/20413710

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1136/JMG.2009.070565

1 reference

Europe PubMed Central

PubMed publication ID

1 August 2017

PMC publication ID

1 reference

Europe PubMed Central

PubMed publication ID

1 August 2017

PubMed publication ID

1 reference

Europe PubMed Central

PubMed publication ID

1 August 2017

ResearchGate publication ID

0 references

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