×
Entrez Id: 201163
Gene Symbol: FLCN
FLCN
Neoplastic Syndromes, Hereditary
0.100
CausalMutation
CLINVAR
Pneumothorax developing for the first time in a 73-year-old woman diagnosed with Birt-Hogg-Dubé syndrome.
24190151 2013
×
Entrez Id: 201163
Gene Symbol: FLCN
FLCN
Neoplastic Syndromes, Hereditary
0.100
CausalMutation
CLINVAR
Birt-Hogg-Dube syndrome is a novel ciliopathy.
23784378 2013
×
Entrez Id: 201163
Gene Symbol: FLCN
FLCN
Neoplastic Syndromes, Hereditary
0.100
CausalMutation
CLINVAR
Where Birt-Hogg-Dubé meets Cowden syndrome: mirrored genetic defects in two cases of syndromic oncocytic tumours.
23386036 2013
×
Entrez Id: 201163
Gene Symbol: FLCN
FLCN
Neoplastic Syndromes, Hereditary
0.100
CausalMutation
CLINVAR
When the chest is clueless, look downstairs.
23741947 2013
×
Entrez Id: 201163
Gene Symbol: FLCN
FLCN
Neoplastic Syndromes, Hereditary
0.100
CausalMutation
CLINVAR
A de novo FLCN mutation in a patient with spontaneous pneumothorax and renal cancer; a clinical and molecular evaluation.
23264078 2013
×
Entrez Id: 201163
Gene Symbol: FLCN
FLCN
Neoplastic Syndromes, Hereditary
0.100
CausalMutation
CLINVAR
[Birt-Hogg-Dubé syndrome: an update].
21937013 2012
×
Entrez Id: 201163
Gene Symbol: FLCN
FLCN
Neoplastic Syndromes, Hereditary
0.100
CausalMutation
CLINVAR
Perifollicular fibroma in Birt-Hogg-Dubé syndrome: an association revisited.
22725638 2012
×
Entrez Id: 201163
Gene Symbol: FLCN
FLCN
Neoplastic Syndromes, Hereditary
0.100
CausalMutation
CLINVAR
Late onset of skin manifestations in Birt-Hogg-Dubé syndrome with FLCN mutation p.W260X.
22068306 2012
×
Entrez Id: 201163
Gene Symbol: FLCN
FLCN
Neoplastic Syndromes, Hereditary
0.100
CausalMutation
CLINVAR
Birt-Hogg-Dubé syndrome with a renal angiomyolipoma: further evidence of a relationship between Birt-Hogg-Dubé syndrome and tuberous sclerosis complex.
22571569 2012
×
Entrez Id: 201163
Gene Symbol: FLCN
FLCN
Neoplastic Syndromes, Hereditary
0.100
CausalMutation
CLINVAR
Birt-Hogg-Dubé syndrome: report of a new mutation.
22679611 2012
×
Entrez Id: 201163
Gene Symbol: FLCN
FLCN
Neoplastic Syndromes, Hereditary
0.100
CausalMutation
CLINVAR
Birt-hogg-dubé syndrome, a rare case in Korea confirmed by genetic analysis.
22148048 2011
×
Entrez Id: 201163
Gene Symbol: FLCN
FLCN
Neoplastic Syndromes, Hereditary
0.100
CausalMutation
CLINVAR
Renal cancer and pneumothorax risk in Birt-Hogg-Dubé syndrome; an analysis of 115 FLCN mutation carriers from 35 BHD families.
22146830 2011
×
Entrez Id: 201163
Gene Symbol: FLCN
FLCN
Neoplastic Syndromes, Hereditary
0.100
CausalMutation
CLINVAR
Birt Hogg-Dubé syndrome-associated FLCN mutations disrupt protein stability.
21538689 2011
×
Entrez Id: 201163
Gene Symbol: FLCN
FLCN
Neoplastic Syndromes, Hereditary
0.100
CausalMutation
CLINVAR
Constitutional FLCN mutations in patients with suspected Birt-Hogg-Dubé syndrome ascertained for non-cutaneous manifestations.
20618353 2011
×
Entrez Id: 201163
Gene Symbol: FLCN
FLCN
Neoplastic Syndromes, Hereditary
0.100
CausalMutation
CLINVAR
Abstracts of the Third Birt-Hogg-Dubé Symposium. Maastricht, The Netherlands. May 11-12th, 2011.
21506000 2011
×
Entrez Id: 201163
Gene Symbol: FLCN
FLCN
Neoplastic Syndromes, Hereditary
0.100
CausalMutation
CLINVAR
Choroidal melanoma and lid fibrofoliculomas in Birt-Hogg-Dubé syndrome.
21401403 2011
×
Entrez Id: 201163
Gene Symbol: FLCN
FLCN
Neoplastic Syndromes, Hereditary
0.100
CausalMutation
CLINVAR
Birt-Hogg-Dubé syndrome: clinical and genetic studies of 10 French families.
19785621 2010
×
Entrez Id: 201163
Gene Symbol: FLCN
FLCN
Neoplastic Syndromes, Hereditary
0.100
CausalMutation
CLINVAR
A new locus-specific database (LSDB) for mutations in the folliculin (FLCN) gene.
19802896 2010
×
Entrez Id: 201163
Gene Symbol: FLCN
FLCN
Neoplastic Syndromes, Hereditary
0.100
CausalMutation
CLINVAR
Clinical and genetic spectrum of Birt-Hogg-Dube syndrome patients in whom pneumothorax and/or multiple lung cysts are the presenting feature.
20413710 2010
×
Entrez Id: 201163
Gene Symbol: FLCN
FLCN
Neoplastic Syndromes, Hereditary
0.100
CausalMutation
CLINVAR
[Birt-Hogg-Dubé syndrome in a patient with cutaneous symptoms and a c.1429 C > T;p.R477X mutation in exon 12 of the folliculin gene].
19457309 2009
×
Entrez Id: 201163
Gene Symbol: FLCN
FLCN
Neoplastic Syndromes, Hereditary
0.100
CausalMutation
CLINVAR
BHD mutations, clinical and molecular genetic investigations of Birt-Hogg-Dubé syndrome: a new series of 50 families and a review of published reports.
18234728 2008
×
Entrez Id: 201163
Gene Symbol: FLCN
FLCN
Neoplastic Syndromes, Hereditary
0.100
CausalMutation
CLINVAR
Novel mutations in the folliculin gene associated with spontaneous pneumothorax.
18579543 2008
×
Entrez Id: 201163
Gene Symbol: FLCN
FLCN
Neoplastic Syndromes, Hereditary
0.100
CausalMutation
CLINVAR
Familial non-VHL clear cell (conventional) renal cell carcinoma: clinical features, segregation analysis, and mutation analysis of FLCN.
18794106 2008
×
Entrez Id: 201163
Gene Symbol: FLCN
FLCN
Neoplastic Syndromes, Hereditary
0.100
CausalMutation
CLINVAR
Birt-Hogg-Dubé syndrome: clinical and genetic studies of 20 families.
17611575 2008
×
Entrez Id: 201163
Gene Symbol: FLCN
FLCN
Neoplastic Syndromes, Hereditary
0.100
CausalMutation
CLINVAR
Birt-Hogg-Dubé (BHD) syndrome: report of two novel germline mutations in the folliculin (FLCN) gene.
18573707 2008