Associated Papers
A Possible Association of Salivary Gland Tumors and Oral Lesions with Birt-Hogg-Dube Syndrome: A Systematic Review.
Peraza Labrador A et al.
Head and Neck Pathology, 2024
Appendiceal diverticulosis in a patient with family history of Birt-Hogg-Dubé syndrome--a case report.
Alexander A et al.
Radiology Case Reports, 2020
A novel FLCN mutation in family members diagnosed with primary spontaneous pneumothorax.
Genc Yavuz B et al.
Molecular Genetics & Genomic Medicine, 2019
Pathology of Birt-Hogg-Dubé syndrome: A special reference of pulmonary manifestations in a Japanese population with a comprehensive analysis and review.
Furuya M et al.
Pathology International, 2019
Genetic screening of the FLCN gene identify six novel variants and a Danish founder mutation.
Rossing M et al.
Journal of Human Genetics, 2017
Genetic study in a case of birt-hogg-dubé syndrome.
Park G et al.
Annals of Dermatology, 2011
Investigation of the Birt-Hogg-Dube tumour suppressor gene (FLCN) in familial and sporadic colorectal cancer.
Nahorski MS et al.
Journal of Medical Genetics, 2010
Birt-Hogg-Dubé syndrome: clinical and genetic studies of 10 French families.
Kluger N et al.
The British Journal of Dermatology, 2010
The folliculin mutation database: an online database of mutations associated with Birt-Hogg-Dubé syndrome.
Wei MH et al.
Human Mutation, 2009
Spontaneous pneumothorax due to Birt-Hogg-Dube syndrome in a Chinese family.
So SY
Respirology (carlton, Vic.), 2009
Folliculin mutations are not associated with severe COPD.
Cho MH et al.
Bmc Medical Genetics, 2008
Mutation analysis of the FLCN gene in Chinese patients with sporadic and familial isolated primary spontaneous pneumothorax.
Ren HZ et al.
Clinical Genetics, 2008
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
Molecular genetics of hereditary renal cancer: new genes and diagnostic and therapeutic opportunities.
Hansel DE et al.
Expert Review of Anticancer Therapy, 2008
A case of Birt-Hogg-Dubé syndrome.
Kim EH et al.
Journal of Korean Medical Science, 2008
Birt-Hogg-Dubé syndrome: clinical and genetic studies of 20 families.
Leter EM et al.
The Journal of Investigative Dermatology, 2008
Abstracts of the Inaugural Birt-Hogg-Dubé (BHD) Symposium. Roskilde, Denmark. September 3, 2008.
Unknown Author
Familial Cancer, 2008
A BHD germline mutation identified in an Asian family with Birt-Hogg-Dubé syndrome.
Misago N et al.
Acta Dermato-venereologica, 2008
Identification and characterization of Birt-Hogg-Dubé associated renal carcinoma.
Murakami T et al.
The Journal of Pathology, 2007
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
Birt-Hogg-Dubé syndrome: clinicopathologic findings and genetic alterations.
Adley BP et al.
Archives of Pathology & Laboratory Medicine, 2006
A novel familial germline mutation in the initiator codon of the BHD gene in a patient with Birt-Hogg-Dubé syndrome.
Bessis D et al.
The British Journal of Dermatology, 2006
Multiple facial angiofibromas: a cutaneous manifestation of Birt-Hogg-Dubé syndrome.
Schaffer JV et al.
Journal of the American Academy of Dermatology, 2005
High frequency of somatic frameshift BHD gene mutations in Birt-Hogg-Dubé-associated renal tumors.
Vocke CD et al.
Journal of the National Cancer Institute, 2005
Germline BHD-mutation spectrum and phenotype analysis of a large cohort of families with Birt-Hogg-Dubé syndrome.
Schmidt LS et al.
American Journal of Human Genetics, 2005
Detection of 1733insC mutations in an Asian family with Birt-Hogg-Dubé syndrome.
Kawasaki H et al.
The British Journal of Dermatology, 2005
Birt-Hogg-Dubé syndrome: germline mutation in the (C)8 mononucleotide tract of the BHD gene in a German patient.
Lamberti C et al.
Acta Dermato-venereologica, 2005
Clinical and genetic studies of Birt-Hogg-Dubé syndrome.
Khoo SK et al.
Journal of Medical Genetics, 2002
Mutations in a novel gene lead to kidney tumors, lung wall defects, and benign tumors of the hair follicle in patients with the Birt-Hogg-Dubé syndrome.
Nickerson ML et al.
Cancer Cell, 2002