Birt-Hogg-Dubé syndrome: diagnosis and management

FH Menko, MAM Van Steensel, S Giraud… - The lancet …, 2009 - thelancet.com
Summary Birt-Hogg-Dubé syndrome (BHD) is an autosomal dominant condition
characterised clinically by skin fibrofolliculomas, pulmonary cysts, spontaneous …

Molecular genetics and clinical features of Birt–Hogg–Dubé syndrome

LS Schmidt, WM Linehan - Nature Reviews Urology, 2015 - nature.com
Abstract Birt–Hogg–Dubé (BHD) syndrome is an inherited renal cancer syndrome in which
affected individuals are at risk of develo** benign cutaneous fibrofolliculomas, bilateral …

Risk of renal and colonic neoplasms and spontaneous pneumothorax in the Birt-Hogg-Dube syndrome

B Zbar, WG Alvord, G Glenn, M Turner… - Cancer Epidemiology …, 2002 - aacrjournals.org
Abstract The Birt-Hogg-Dubé syndrome, a genodermatosis characterized by benign tumors
of the hair follicle, has been associated with renal and colonic neoplasms and spontaneous …

BHD mutations, clinical and molecular genetic investigations of Birt–Hogg–Dubé syndrome: a new series of 50 families and a review of published reports

JR Toro, MH Wei, GM Glenn, M Weinreich… - Journal of medical …, 2008 - jmg.bmj.com
Background: Birt–Hogg–Dubé syndrome (BHDS)(MIM 135150) is an autosomal dominant
predisposition to the development of follicular hamartomas (fibrofolliculomas), lung cysts …

Germline BHD-mutation spectrum and phenotype analysis of a large cohort of families with Birt-Hogg-Dube syndrome

LS Schmidt, ML Nickerson, MB Warren… - The American Journal of …, 2005 - cell.com
Birt-Hogg-Dubé syndrome (BHD), a genodermatosis characterized by multiple hamartomas
of the hair follicle (fibrofolliculoma), predisposes individuals to an increased risk of …

Update of penetrance estimates in Birt-Hogg-Dubé syndrome

FJ Bruinsma, JG Dowty, AK Win, LC Goddard… - Journal of medical …, 2023 - jmg.bmj.com
Background Birt-Hogg-Dubé (BHD) syndrome is a rare genetic syndrome caused by
pathogenic or likely pathogenic germline variants in the FLCN gene. Patients with BHD …

Genetic, epidemiologic and clinicopathologic studies of Japanese Asian patients with Birt–Hogg–Dubé syndrome

M Furuya, M Yao, R Tanaka, Y Nagashima… - Clinical …, 2016 - Wiley Online Library
Birt–Hogg–Dubé syndrome (BHD) is a rare genetic disorder characterized by
fibrofolliculomas, pulmonary cysts and renal cell carcinomas (RCCs). The affected …

[HTML][HTML] Learning from oncocytic tumors: why choose inefficient mitochondria?

G Gasparre, G Romeo, M Rugolo… - Biochimica et Biophysica …, 2011 - Elsevier
A prominent role for mitochondrial genes and metabolism has been recently characterized
in oncocytic transformation of cancer cells. From mitochondrial ultrastructure alterations to …

[HTML][HTML] Expression of Birt–Hogg–Dube gene mRNA in normal and neoplastic human tissues

MB Warren, CA Torres-Cabala, ML Turner, MJ Merino… - Modern pathology, 2004 - Elsevier
Abstract Birt–Hogg–Dubé (BHD) syndrome is an inherited autosomal genodermatosis
characterized by hamartomas of the hair follicle called fibrofolliculomas and an increased …

Birt-Hogg-Dube syndrome: clinicopathologic findings and genetic alterations

BP Adley, ND Smith, R Nayar… - Archives of pathology & …, 2006 - meridian.allenpress.com
Abstract Context.—Birt-Hogg-Dubé (BHD) syndrome is a rare clinicopathologic condition
transmitted in an autosomal dominant fashion. This complex entity is characterized by …