Birt–hogg–dubé syndrome
C Daccord, JM Good, MA Morren… - European …, 2020 - Eur Respiratory Soc
Birt–Hogg–Dubé syndrome (BHD) is a rare inherited autosomal dominant disorder caused
by germline mutations in the tumour suppressor gene FLCN, encoding the protein folliculin …
by germline mutations in the tumour suppressor gene FLCN, encoding the protein folliculin …
Update of penetrance estimates in Birt-Hogg-Dubé syndrome
Background Birt-Hogg-Dubé (BHD) syndrome is a rare genetic syndrome caused by
pathogenic or likely pathogenic germline variants in the FLCN gene. Patients with BHD …
pathogenic or likely pathogenic germline variants in the FLCN gene. Patients with BHD …
The genetics of pneumothorax
A genetic influence on spontaneous pneumothoraces—those occurring without a traumatic
or iatrogenic cause—is supported by several lines of evidence: 1) pneumothorax can cluster …
or iatrogenic cause—is supported by several lines of evidence: 1) pneumothorax can cluster …
Birt-Hogg-Dubé syndrome
N Gupta, BY Sunwoo… - Clinics in Chest …, 2016 - chestmed.theclinics.com
Birt-Hogg-Dubesyndrome (BHD) is a rare autosomal dominant disorder characterized by the
formation of hair follicle tumors, kidney tumors, pulmonary cysts, and recurrent spontaneous …
formation of hair follicle tumors, kidney tumors, pulmonary cysts, and recurrent spontaneous …
Multiple cystic lung disease
FAF Francisco, AS Souza, G Zanetti… - European Respiratory …, 2015 - Eur Respiratory Soc
Multiple cystic lung disease represents a diverse group of uncommon disorders that can
present a diagnostic challenge due to the increasing number of diseases associated with …
present a diagnostic challenge due to the increasing number of diseases associated with …
[PDF][PDF] A stepwise diagnostic approach to cystic lung diseases for radiologists
Lung cysts are commonly seen on computed tomography (CT), and cystic lung diseases
show a wide disease spectrum. Thus, correct diagnosis of cystic lung diseases is a …
show a wide disease spectrum. Thus, correct diagnosis of cystic lung diseases is a …
Rare genetic interstitial lung diseases: a pictorial essay
R Borie, L Berteloot, C Kannengiesser… - European …, 2024 - publications.ersnet.org
The main monogenic causes of pulmonary fibrosis in adults are mutations in telomere-
related genes. These mutations may be associated with extrapulmonary signs (hepatic …
related genes. These mutations may be associated with extrapulmonary signs (hepatic …
Isolated cystic lung disease: an algorithmic approach to distinguishing Birt-Hogg-Dubé syndrome, lymphangioleiomyomatosis, and lymphocytic interstitial pneumonia
JG Escalon, JC Richards, T Koelsch… - American Journal of …, 2019 - Am Roentgen Ray Soc
OBJECTIVE. Birt-Hogg-Dubé (BHD) syndrome, lymphangioleiomyomatosis (LAM), and
lymphocytic interstitial pneumonia (LIP) frequently present as isolated cystic lung disease …
lymphocytic interstitial pneumonia (LIP) frequently present as isolated cystic lung disease …
[HTML][HTML] Birt-Hogg-Dubé syndrome. State-of-the-art review with emphasis on pulmonary involvement
AA Dal Sasso, LC Belém, G Zanetti, CA Souza… - Respiratory …, 2015 - Elsevier
Summary Background Birt-Hogg-Dubé syndrome (BHDS) is a rare, inherited autosomal-
dominant disorder characterized by the development of cutaneous lesions, renal tumors …
dominant disorder characterized by the development of cutaneous lesions, renal tumors …
Folliculin regulates cell–cell adhesion, AMPK, and mTORC1 in a cell‐type‐specific manner in lung‐derived cells
D Khabibullin, DA Medvetz, M Pinilla… - Physiological …, 2014 - Wiley Online Library
Germline loss‐of‐function BHD mutations cause cystic lung disease and hereditary
pneumothorax, yet little is known about the impact of BHD mutations in the lung. Folliculin …
pneumothorax, yet little is known about the impact of BHD mutations in the lung. Folliculin …