Birt-Hogg-Dube syndrome: diagnosis and management

Research output: Contribution to journal › Journal article › Research › peer-review

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Birt-Hogg-Dube syndrome: diagnosis and management. / Menko, F.H.; Steensel, M.A. van; Giraud, S.; Friis-Hansen, L.; Richard, S.; Ungari, S.; Nordenskjold, M.; Hansen, T.v.O.; Solly, J.; Maher, E.R.

In: Lancet Oncology, Vol. 10, No. 12, 2009, p. 1199-1206.

Research output: Contribution to journal › Journal article › Research › peer-review

Harvard

Menko, FH, Steensel, MAV, Giraud, S, Friis-Hansen, L, Richard, S, Ungari, S, Nordenskjold, M, Hansen, TVO, Solly, J & Maher, ER 2009, 'Birt-Hogg-Dube syndrome: diagnosis and management', Lancet Oncology, vol. 10, no. 12, pp. 1199-1206.

APA

Menko, F. H., Steensel, M. A. V., Giraud, S., Friis-Hansen, L., Richard, S., Ungari, S., Nordenskjold, M., Hansen, T. V. O., Solly, J., & Maher, E. R. (2009). Birt-Hogg-Dube syndrome: diagnosis and management. Lancet Oncology, 10(12), 1199-1206.

Vancouver

Menko FH, Steensel MAV, Giraud S, Friis-Hansen L, Richard S, Ungari S et al. Birt-Hogg-Dube syndrome: diagnosis and management. Lancet Oncology. 2009;10(12):1199-1206.

Author

Menko, F.H. ; Steensel, M.A. van ; Giraud, S. ; Friis-Hansen, L. ; Richard, S. ; Ungari, S. ; Nordenskjold, M. ; Hansen, T.v.O. ; Solly, J. ; Maher, E.R. / Birt-Hogg-Dube syndrome: diagnosis and management. In: Lancet Oncology. 2009 ; Vol. 10, No. 12. pp. 1199-1206.

Bibtex

@article{ceb586f0626b11df928f000ea68e967b,
title = "Birt-Hogg-Dube syndrome: diagnosis and management",
abstract = "Birt-Hogg-Dube syndrome (BHD) is an autosomal dominant condition characterised clinically by skin fibrofolliculomas, pulmonary cysts, spontaneous pneumothorax, and renal cancer. The condition is caused by germline mutations in the FLCN gene, which encodes folliculin; the function of this protein is largely unknown, although FLCN has been linked to the mTOR pathway. The availability of DNA-based diagnosis has allowed insight into the great variation in expression of FLCN, both within and between families. Patients can present with skin signs and also with pneumothorax or renal cancer. Preventive measures are aimed mainly at early diagnosis and treatment of renal cancer. This Review gives an overview of current diagnosis and management of BHD Udgivelsesdato: 2009/12",
author = "F.H. Menko and Steensel, {M.A. van} and S. Giraud and L. Friis-Hansen and S. Richard and S. Ungari and M. Nordenskjold and T.v.O. Hansen and J. Solly and E.R. Maher",
year = "2009",
language = "English",
volume = "10",
pages = "1199--1206",
journal = "The Lancet Oncology",
issn = "1470-2045",
publisher = "TheLancet Publishing Group",
number = "12",

}

RIS

TY - JOUR

T1 - Birt-Hogg-Dube syndrome: diagnosis and management

AU - Menko, F.H.

AU - Steensel, M.A. van

AU - Giraud, S.

AU - Friis-Hansen, L.

AU - Richard, S.

AU - Ungari, S.

AU - Nordenskjold, M.

AU - Hansen, T.v.O.

AU - Solly, J.

AU - Maher, E.R.

PY - 2009

Y1 - 2009

N2 - Birt-Hogg-Dube syndrome (BHD) is an autosomal dominant condition characterised clinically by skin fibrofolliculomas, pulmonary cysts, spontaneous pneumothorax, and renal cancer. The condition is caused by germline mutations in the FLCN gene, which encodes folliculin; the function of this protein is largely unknown, although FLCN has been linked to the mTOR pathway. The availability of DNA-based diagnosis has allowed insight into the great variation in expression of FLCN, both within and between families. Patients can present with skin signs and also with pneumothorax or renal cancer. Preventive measures are aimed mainly at early diagnosis and treatment of renal cancer. This Review gives an overview of current diagnosis and management of BHD Udgivelsesdato: 2009/12

AB - Birt-Hogg-Dube syndrome (BHD) is an autosomal dominant condition characterised clinically by skin fibrofolliculomas, pulmonary cysts, spontaneous pneumothorax, and renal cancer. The condition is caused by germline mutations in the FLCN gene, which encodes folliculin; the function of this protein is largely unknown, although FLCN has been linked to the mTOR pathway. The availability of DNA-based diagnosis has allowed insight into the great variation in expression of FLCN, both within and between families. Patients can present with skin signs and also with pneumothorax or renal cancer. Preventive measures are aimed mainly at early diagnosis and treatment of renal cancer. This Review gives an overview of current diagnosis and management of BHD Udgivelsesdato: 2009/12

M3 - Journal article

VL - 10

SP - 1199

EP - 1206

JO - The Lancet Oncology

JF - The Lancet Oncology

SN - 1470-2045

IS - 12

ER -

ID: 19797720