Sources

Genetic counselling

Genetic counselling (NHS website): http://www.nhs.uk/chq/Pages/2370.aspx

Genetic discrimination

Genetic discrimination (National Human Genome Research Institute website): http://www.genome.gov/10002328

Insurance

Report on healthcare spending (EU, 2010): http://ec.europa.eu/health/reports/docs/health_glance_en.pdf

Family Planning

Nickerson et al., 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. Cancer cell, 2 (2), 157-64 [PMID: 12204536] [BHD Article Library]

Menko et al., 2009. Birt-Hogg-Dubé syndrome: diagnosis and management. Lancet Oncol, 10 (12), 1199-206 [PMID: 19959076] [BHD Article Library]

Stamatakis et al., 2013. Diagnosis and management of BHD-associated kidney cancer. Familial cancer, 12 (3), 397-402 [PMID: 23703644]

Bessis et al., 2006. A novel familial germline mutation in the initiator codon of the BHD gene in a patient with Birt-Hogg-Dubé syndrome. Br J Dermatol, 155 (5), 1067-9 [PMID: 17034545]

Gunji et al., 2007. Mutations of the Birt Hogg Dube gene in patients with multiple lung cysts and recurrent pneumothorax. J Med Genet, 44 (9), 588-93 [PMID: 17496196] [BHD Article Library]

Johannesma et al., 2014. Spontaneous pneumothorax as indicator for Birt-Hogg-Dubé syndrome in paediatric patients. BMC pediatrics, 14 [PMID: 24994497] [BHD Article Library]

Links:

Chorionic Villis sampling (NHS website): http://www.nhs.uk/conditions/Chorionic-Villus-sampling/Pages/Introduction.aspx

Amniocentesis (NHS website): http://www.nhs.uk/conditions/amniocentesis/Pages/Introduction.aspx

Preimplantation genetic diagnosis (Human Fertilisation and Embryology Authority website): http://www.hfea.gov.uk/preimplantation-genetic-diagnosis.html

Telling others about BHD

Medical education kit

Menko et al., 2009. Birt-Hogg-Dubé syndrome: diagnosis and management. Lancet Oncol, 10 (12), 1199-206 [PMID: 19959076] [BHD Article Library]

Stamatakis et al., 2013. Diagnosis and management of BHD-associated kidney cancer. Familial cancer, 12 (3), 397-402 [PMID: 23703644]

Gupta et al., 2013. Pulmonary manifestations of Birt-Hogg-Dubé syndrome. Familial cancer, 12 (3), 387-96 [PMID: 23715758]

BHD Family Letter

Nickerson et al., 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. Cancer cell, 2 (2), 157-64 [PMID: 12204536] [BHD Article Library]

Menko et al., 2009. Birt-Hogg-Dubé syndrome: diagnosis and management. Lancet Oncol, 10 (12), 1199-206 [PMID: 19959076] [BHD Article Library]

Stamatakis et al., 2013. Diagnosis and management of BHD-associated kidney cancer. Familial cancer, 12 (3), 397-402 [PMID: 23703644]

Gupta et al., 2013. Pulmonary manifestations of Birt-Hogg-Dubé syndrome. Familial cancer, 12 (3), 387-96 [PMID: 23715758]

Johannesma et al., 2014. Spontaneous pneumothorax as indicator for Birt-Hogg-Dubé syndrome in paediatric patients. BMC pediatrics, 14 [PMID: 24994497] [BHD Article Library]

Medicard

Menko et al., 2009. Birt-Hogg-Dubé syndrome: diagnosis and management. Lancet Oncol, 10 (12), 1199-206 [PMID: 19959076] [BHD Article Library]

Gupta et al., 2013. Pulmonary manifestations of Birt-Hogg-Dubé syndrome. Familial cancer, 12 (3), 387-96 [PMID: 23715758]

Stamatakis et al., 2013. Diagnosis and management of BHD-associated kidney cancer. Familial cancer, 12 (3), 397-402 [PMID: 23703644]

Clinical trials

Gijezen et al., 2014. Topical rapamycin as a treatment for fibrofolliculomas in birt-hogg-dubé syndrome: a double-blind placebo-controlled randomized split-face trial. PloS one, 9 (6) [PMID: 24910976] [BHD Article Library]

Links:

Clinical trials (Wikipedia): http://en.wikipedia.org/wiki/Clinical_trial

Clinical trials (NHS website): http://www.nhs.uk/Conditions/Clinical-trials/Pages/Introduction.aspx

Publication date: December 2014
Review date: December 2017