Associated Papers
Differential Diagnosis and a Novel Mutation in Birt-Hogg-Dubé Syndrome: Insights from 2 Cases.
Tu L et al.
The American Journal of Case Reports, 2025
A familial case of Birt-Hogg-Dubé syndrome complicated with lung cancer: a case report and literature review.
Feng J et al.
Frontiers in Medicine, 2025
Exons 1-3 deletion in FLCN is associated with increased risk of pneumothorax in Chinese patients with Birt-Hogg-Dubé syndrome.
Wang Y et al.
Orphanet Journal of Rare Diseases, 2023
Clinical and genetic features of 334 Asian patients with Birt-Hogg-Dubé syndrome (BHDS) who presented with pulmonary cysts with or without a history of pneumothorax, with special reference to BHDS-associated pneumothorax.
Namba Y et al.
Plos One, 2023
Birt-Hogg-Dubé syndrome in Chinese patients: a literature review of 120 families.
Hu X et al.
Orphanet Journal of Rare Diseases, 2021
Phenotypic Variation of Birt-Hogg-Dubé Syndrome Within a Single Family.
O'Carroll O et al.
Chest, 2020
Birt-Hogg-Dubé syndrome.
Daccord C et al.
European Respiratory Review : an Official Journal of the European Respiratory Society, 2020
Genetic Risk Factors for Spontaneous Pneumothorax in Birt-Hogg-Dubé Syndrome.
Sattler EC et al.
Chest, 2020
Birt-Hogg-Dubé syndrome in two Chinese families with mutations in the FLCN gene.
Hou X et al.
Bmc Medical Genetics, 2018
Kidney cancer characteristics and genotype-phenotype-correlations in Birt-Hogg-Dubé syndrome.
Sattler EC et al.
Plos One, 2018
MutPred Splice: machine learning-based prediction of exonic variants that disrupt splicing.
Mort M et al.
Genome Biology, 2014
Renal cancer and pneumothorax risk in Birt-Hogg-Dubé syndrome; an analysis of 115 FLCN mutation carriers from 35 BHD families.
Houweling AC et al.
British Journal of Cancer, 2011
A new locus-specific database (LSDB) for mutations in the folliculin (FLCN) gene.
Lim DH et al.
Human Mutation, 2010
Homozygous loss of BHD causes early embryonic lethality and kidney tumor development with activation of mTORC1 and mTORC2.
Hasumi Y et al.
Proceedings of the National Academy of Sciences of the United States of America, 2009
The folliculin mutation database: an online database of mutations associated with Birt-Hogg-Dubé syndrome.
Wei MH et al.
Human Mutation, 2009
Novel mutations in the BHD gene and absence of loss of heterozygosity in fibrofolliculomas of Birt-Hogg-Dubé patients.
van Steensel MA et al.
The Journal of Investigative Dermatology, 2007