Associated Papers
Folliculin variants linked to Birt-Hogg-Dubé syndrome are targeted for proteasomal degradation.
Clausen L et al.
Plos Genetics, 2020
Genotypic characteristics of Chinese patients with BHD syndrome and functional analysis of FLCN variants.
Liu K et al.
Orphanet Journal of Rare Diseases, 2019
31615547 (PubMed )
Supplement: 13023_2019_1198_MOESM1_ESM.xlsx › Mutagenesis_primer_pairs
Birt-Hogg-Dubé syndrome in two Chinese families with mutations in the FLCN gene.
Hou X et al.
Bmc Medical Genetics, 2018
A novel heterozygous mutation in the Birt-Hogg-Dubé Syndrome.
Gómez Rivas J et al.
Archivos Espanoles De Urologia, 2017
Birt-Hogg-Dubé syndrome: Clinical and molecular aspects of recently identified kidney cancer syndrome.
Hasumi H et al.
International Journal of Urology : Official Journal of the Japanese Urological Association, 2016
Molecular genetics and clinical features of Birt-Hogg-Dubé syndrome.
Schmidt LS et al.
Nature Reviews. Urology, 2015
Renal cell tumour characteristics in patients with the Birt-Hogg-Dubé cancer susceptibility syndrome: a retrospective, multicentre study.
Benusiglio PR et al.
Orphanet Journal of Rare Diseases, 2014
Germline variation in cancer-susceptibility genes in a healthy, ancestrally diverse cohort: implications for individual genome sequencing.
Bodian DL et al.
Plos One, 2014
24728327 (PubMed )
Supplement: pone.0094554.s002.xlsx › Table_S1
Birt Hogg-Dubé syndrome-associated FLCN mutations disrupt protein stability.
Nahorski MS et al.
Human Mutation, 2011
Abstracts of the Third Birt-Hogg-Dubé Symposium. Maastricht, The Netherlands. May 11-12th, 2011.
Unknown Author
Familial Cancer, 2011
A new locus-specific database (LSDB) for mutations in the folliculin (FLCN) gene.
Lim DH et al.
Human Mutation, 2010
Clinical Features, Genetics and Potential Therapeutic Approaches for Birt-Hogg-Dubé Syndrome.
Schmidt LS et al.
Expert Opinion on Orphan Drugs, 0
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