Associated Papers
Splice-site mutation causing partial retention of intron in the FLCN gene in Birt-Hogg-Dubé syndrome: a case report.
Furuya M et al.
Bmc Medical Genomics, 2018
Birt-Hogg-Dubé syndrome in two Chinese families with mutations in the FLCN gene.
Hou X et al.
Bmc Medical Genetics, 2018
Topical rapamycin as a treatment for fibrofolliculomas in Birt-Hogg-Dubé syndrome: a double-blind placebo-controlled randomized split-face trial.
Gijezen LM et al.
Plos One, 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
The folliculin mutation database: an online database of mutations associated with Birt-Hogg-Dubé syndrome.
Wei MH et al.
Human Mutation, 2009
BHD mutations, clinical and molecular genetic investigations of Birt-Hogg-Dubé syndrome: a new series of 50 families and a review of published reports.
Toro JR et al.
Journal of Medical Genetics, 2008
A case of Birt-Hogg-Dubé syndrome.
Kim EH et al.
Journal of Korean Medical Science, 2008
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
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