BACKGROUND AND OBJECTIVES: Birt-Hogg-Dube syndrome is an autosomal dominant disorder characterized by skin fibrofolliculomas, lung cysts, spontaneous pneumothorax and renal cell cancer due to germline folliculin (FLCN) mutations (Menko et al. in Lancet Oncol 10(12):1199-1206, 2009). The aim of this study was to evaluate the incidence of spontaneous pneumothorax in patients with BHD during or shortly after air travel and diving. METHODS: A questionnaire was sent to a cohort of 190 BHD patients and the medical files of these patients were evaluated. The diagnosis of BHD was confirmed by FLCN mutations analysis in all patients. We assessed how many spontaneous pneumothoraces (SP) occurred within 1 month after air travel or diving. RESULTS: In ...
Individuals with Birt-Hogg-Dubé syndrome (BHDS) may develop fibrofolliculomas, pneumothorax and/or r...
Birt-Hogg-Dube syndrome (BHD) is a rare disorder caused by mutations in the gene that encodes follic...
Background: Birt-Hogg-Dubé (BHD) syndrome is an autosomal dominant condition caused by germline FLCN...
Contains fulltext : 171437.pdf (Publisher’s version ) (Open Access)BACKGROUND AND ...
In 1962, J.J. Collins from the United States Naval Medical Research Laboratory published an unusual ...
The research in this thesis consists of cohort studies, rare cases and novel genes for Birt-Hogg-Dub...
Background: Birt-Hogg-Dubé syndrome (BHD) is an inherited disease caused by pathogenic variants in t...
Background: Birt-Hogg-Dubé syndrome (BHDS) is a rare autosomal-dominant inherited disorder character...
Abstract Background Pulmonary lymphangioleiomyomatosis (LAM) is a rare disease of women characterize...
Purpose: Birt-Hogg-Dube syndrome (BHD) is a rare disorder caused by mutations in the gene that encod...
Rationale: Birt-Hogg-Dube ́ syndrome (BHDS) is an autosomal, dominantly inherited genodermatosis tha...
International audienceAbstract Background Birt-Hogg-Dubé syndrome (BHD) is a rare autosomal dominant...
Background: Birt-Hogg-Dubé (BHD) syndrome is an autosomal dominant condition caused by germline FLCN...
Pulmonary lymphangioleiomyomatosis (LAM) is a rare disease of women characterized by multiple lung c...
Birt-Hogg-Dubé syndrome (BHD) is a rare autosomal dominant disorder caused by mutations in the FLCN ...
Individuals with Birt-Hogg-Dubé syndrome (BHDS) may develop fibrofolliculomas, pneumothorax and/or r...
Birt-Hogg-Dube syndrome (BHD) is a rare disorder caused by mutations in the gene that encodes follic...
Background: Birt-Hogg-Dubé (BHD) syndrome is an autosomal dominant condition caused by germline FLCN...
Contains fulltext : 171437.pdf (Publisher’s version ) (Open Access)BACKGROUND AND ...
In 1962, J.J. Collins from the United States Naval Medical Research Laboratory published an unusual ...
The research in this thesis consists of cohort studies, rare cases and novel genes for Birt-Hogg-Dub...
Background: Birt-Hogg-Dubé syndrome (BHD) is an inherited disease caused by pathogenic variants in t...
Background: Birt-Hogg-Dubé syndrome (BHDS) is a rare autosomal-dominant inherited disorder character...
Abstract Background Pulmonary lymphangioleiomyomatosis (LAM) is a rare disease of women characterize...
Purpose: Birt-Hogg-Dube syndrome (BHD) is a rare disorder caused by mutations in the gene that encod...
Rationale: Birt-Hogg-Dube ́ syndrome (BHDS) is an autosomal, dominantly inherited genodermatosis tha...
International audienceAbstract Background Birt-Hogg-Dubé syndrome (BHD) is a rare autosomal dominant...
Background: Birt-Hogg-Dubé (BHD) syndrome is an autosomal dominant condition caused by germline FLCN...
Pulmonary lymphangioleiomyomatosis (LAM) is a rare disease of women characterized by multiple lung c...
Birt-Hogg-Dubé syndrome (BHD) is a rare autosomal dominant disorder caused by mutations in the FLCN ...
Individuals with Birt-Hogg-Dubé syndrome (BHDS) may develop fibrofolliculomas, pneumothorax and/or r...
Birt-Hogg-Dube syndrome (BHD) is a rare disorder caused by mutations in the gene that encodes follic...
Background: Birt-Hogg-Dubé (BHD) syndrome is an autosomal dominant condition caused by germline FLCN...