Here you will find free access to BHD  research articles. You can click on the relevant paper and  save the .pdf file to your personal computer. The library is split into 2 sections:

1. BHD Specific: where the main aim of the paper is directly related to BHD Syndrome, or;

2. Kidney Cancer: where BHD Syndrome is mentioned within the main body of text, but is not the sole subject of the paper.

3. Pheumothorax – General Reading: a few good reviews on the clinical manifestation and treatment of collapsed lung

All other research articles require journal subscription.

BHD Specific Papers

Hong SB et al, 2010. Tumor suppressor FLCN inhibits tumorigenesis of a FLCN-null renal cancer cell line and regulates expression of key molecules in TGF-β signaling

Warwick et al, 2010. Renal cancer associated with recurrent spontaneous pneumothorax in Birt Hogg Dube syndrome a case report and review of the literature

Kunogi et al, 2010. Clinical and genetic spectrum of Birt-Hogg-Dube syndrome patients in whom pneumothorax and or multiple lung cysts are the presenting feature

Menko et al 2009, Birt-Hogg-Dubé syndrome: diagnosis and management

Hasumi et al, 2009. Homozygous loss of BHD causes early embryonic lethality and kidney tumor development with activation of mTORC1 and mTORC2

Lim et al, 2009. A new locus-specific database (LSDB) for mutations in the folliculin (FLCN) gene.

Diamond et al, 2009. Recurrent spontaneous pneumothorax as the presenting sign of the Birt-Hogg-Dubé syndrome. (Page 8 )

Wei et al, 2009. The folliculin mutation database. an online database of mutations associated with Birt-Hogg-Dubé syndrome.

Hartman et al, 2009. The Role of the Birt-Hogg-Dubé Protein in mTOR Activation and Renal Tumorigenesis

Ishii et al, 2009. A Japanese Family with Multiple Lung Cysts and Recurrent Pneumothorax

Hasumi et al, 2008. Identification and characterization of a novel folliculin-interacting protein FNIP2

Chen et al, 2008. Deficiency of FLCN in Mouse Kidney Led to Development of Polycystic Kidneys and Renal Neoplasia

Janitsky et al, 2008. An unusual case of Birt-Hogg-Dube syndrome with renal involvement.

Woodward et al, 2008. Familial non-VHL clear cell (conventional) renal cell carcinoma: clinical features, segregation analysis, and mutation analysis of FLCN.

Baba et al, 2008. Kidney-targeted Birt-Hogg-Dubé gene inactivation in a mouse model Erk12 and Akt-mTOR activation, cell hyperproliferation, and polycystic kidneys

Leter et al, 2008. Birt-Hogg-Dubé syndrome: clinical and genetic studies of 20 families.

Kim et al, 2008. A Case of Birt-Hogg-Dubé Syndrome

Yang et al, 2008. The UOK 257 Cell Line – A Novel Model for Studies of the Human Birt-Hogg-Dubé Gene Pathway

Cho et al, 2008. Folliculin mutations are not associated with severe COPD

Toro et al, 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

van Slegtenhorst et al, 2007. The Birt-Hogg-Dube and tuberous sclerosis complex homologs have opposing roles in amino acid homeostasis in Schizosaccharomyces pombe.

Ayo et al, 2007. Cystic lung disease in Birt-Hogg-Dube syndrome.

van Steensel et al, 2007. Novel mutations in the BHD gene and absence of loss of heterozygosity in fibrofolliculomas of Birt-Hogg-Dubé patients.

Toro et al, 2007. Lung Cysts, Spontaneous Pneumothorax, and Genetic Associations in 89 Families with Birt-Hogg-Dube Syndrome

Baba et al, 2006. Folliculin encoded by the BHD gene interacts with a binding protein, FNIP1, and AMPK, and is involved in AMPK and mTOR signaling

Gad et al, 2007. Mutations in BHD and TP53 genes, but not in HNF1β gene, in a large series of sporadic chromophobe renal cell carcinoma

Lee et al, 2005. Genetics of skin appendage neoplasms and related syndromes

Souza et al, 2005. Birt-Hogg-Dubé syndrome. a rare cause of pulmonary cysts.

Vocke et al, 2005. High frequency of somatic frameshift BHD gene mutations in Birt-Hogg-Dubé-associated renal tumors.

Graham et al, 2005. Nonsense mutations in folliculin presenting as isolated familial spontaneous pneumothorax in adults.

Gruson LM, 2004. Birt-Hogg-Dube syndrome.

Painter et al, 2005. A 4-bp Deletion in the Birt-Hogg-Dubé Gene (FLCN) Causes Dominantly Inherited Spontaneous Pneumothorax

Schmidt et al, 2005. Germline BHD-Mutation Spectrum and Phenotype Analysis of a Large Cohort of Families with Birt-Hogg-Dubé Syndrome

Warren et al, 2004. Expression of Birt-Hogg-Dubé gene mRNA in normal and neoplastic human tissues.

Okimoto et al, 2004. A germ-line insertion in the Birt–Hogg–Dubé (BHD) gene gives rise to the Nihon rat model of inherited renal cancer

Lingaas et al, 2003. A mutation in the canine BHD gene is associated with hereditary multifocal renal cystadenocarcinoma and nodular dermatofibrosis in the German Shepherd dog.

Khoo et al, 2003. Inactivation of BHD in sporadic renal tumors.

Fernandes et al, 2003. Analysis of the Birt–Hogg–Dubé (BHD) tumour suppressor gene in sporadic renal cell carcinoma and colorectal cancer

Kahnkosi et al, 2003. Alterations of the Birt-Hogg-Dubé gene (BHD) in sporadic colorectal tumours

Shin et al, 2003. Mutations of the Birt-Hogg-Dubé (BHD) gene in sporadic colorectal carcinomas and colorectal carcinoma cell lines with microsatellite instability

Zbar et al, 2002. Risk of renal and colonic neoplasms and spontaneous pneumothorax in the Birt-Hogg-Dubé syndrome.

Toro et al, 2002. Exclusion of PTEN, CTNNB1, and PTCH as candidate genes for Birt-Hogg-Dube syndrome

Khoo et al, 2002. Clinical and genetic studies of Birt-Hogg-Dubé syndrome

Schmidt et al, 2001. Birt-Hogg-Dubé Syndrome, a Genodermatosis Associated with Spontaneous Pneumothorax and Kidney Neoplasia, Maps to Chromosome 17p11.2

Khoo et al, 2001. Birt-Hogg-Dubé syndrome. mapping of a novel hereditary neoplasia gene to chromosome 17p12-q11.2.

Aoki et al, 2000. Guess what! Diagnosis and comments: Birt-Hogg-Dubé syndrome.

Toro et al, 1999. Birt-Hogg-Dubé syndrome: a novel marker of kidney neoplasia.

Kidney Cancer – General Reading:

Sorbellini et al, 2010. Renal Cell Carcinoma and Prognostic Factors Predictive

Sanz-Ortega et al, 2009. Hereditary renal cancer. English Translation

Young et al, 2009. Monitoring of Tumor Promotion and Progression in a Mouse Model of Inflammation-Induced Colon Cancer with Magnetic Resonance Colonography

Stec et al, 2009. Chromophobe renal cell cancer – review of the literature and potential methods of treating metastatic disease

Linguraru et al, 2009. Renal Tumor Quantification and Classification in Contrast-Enhanced Abdominal CT

McRonald et al, 2009. CpG methylation profiling in VHL related and VHL unrelated renal cell carcinoma

Linehan 2009. Kidney Cancer: Opportunity for Disease Specific Targeted Therapy

Radopoulos et al, 2009. Bilateral synchronous occurrence of three different histological types of renal tumor: a case report

Armah et al, 2009. Xp11.2 translocation renal cell carcinoma occurring during pregnancy with a novel translocation involving chromosome 19: a case report with review of the literature

Heung et al, 2009. Placenta-Derived Fetal Specific mRNA Is More Readily Detectable in Maternal Plasma than in Whole Blood

Yusenko et al, 2009. High-resolution DNA copy number and gene expression analyses distinguish chromophobe renal cell carcinomas and renal oncocytomas

Rogers et al, 2009. Robotic Partial Nephrectomy For Complex Renal Tumors: Surgical Technique

Nickerson et al, 2009. Improved Identification of von Hippel-Lindau Gene Alterations in Clear Cell Renal Tumors

Coleman et al, 2009. Radiofrequency-Assisted Laparoscopic Partial Nephrectomy: Clinical and Histologic Results

Singh et al, 2009. Multipotent stem cells in the Malpighian tubules of adult Drosophila

Algaba, 2008. Renal Adenomas: Pathological Differential Diagnosis with Malignant Tumors

Crispen et al, 2008. Multifocal Renal Cell Carcinoma: Clinicopathologic Features and Outcomes for Tumors ≤4 cm

Johnson et al, 2008. Feasibility and Outcomes of Repeat Partial Nephrectomy

Pfaffenroth et al, 2008. Genetic Basis for Kidney Cancer: Opportunity for Disease-Specific Approaches to Therapy

Escudier et al, 2008. Targeted therapies in the management of renal cell carcinom: role of bevacizumab

Medina et al, 2008. Histological Characterisation of Small Renal Masses and Incidence of Silent Renal Masses

Krymskya 2008. Smooth Muscle–like Cells in Pulmonary Lymphangioleiomyomatosis

Sijmons. 2008. Encyclopaedia of tumour-associated familial disorders. Part I: from AIMAH to CHIME syndrome

Lopez-Guerrero et al, 2008. Genetic Counseling in Renal Masses

Hidalgo et al, 2008. Familial Syndromes Coupling with Small Renal Masses

Hwang et al, 2008. Radio Frequency Ablation Of Small Renal Tumors: Intermediate Results

Pascual et al, 2008. Epidemiology of Kidney Cancer

Linehan et al, 2007. Identification of the genes for kidney cancer: opportunity for disease-specific targeted therapeutics.

Lim et al, 2007. Current understanding of the molecular mechanisms of kidney cancer: a primer for urologists

Chang et al, 2007. A Solitary Fibrofolliculoma in the Eyelid

Klatte et al, 2007. Understanding the Natural Biology of Kidney Cancer. Implications for Targeted Cancer Therapy

Furge et al, 2007. Combining differential expression, chromosomal and pathway analyses for the molecular characterization of renal cell carcinoma

Pithukpakorn et al, 2006. Fumarate hydratase enzyme activity in lymphoblastoid cells and fibroblasts of individuals in families with hereditary leiomyomatosis and renal cell cancer

Francis, 2006. Detection, staging and surveillance in renal cell carcinoma

Patel et al, 2006. Targeted therapy for metastatic renal cell carcinoma

Schuetz et al, 2005. Molecular Classification of Renal Tumors by Gene Expression Profiling

Linehan et al, 2004. Genetic basis of cancer of the kidney. disease-specific approaches to therapy.

Vanharanta et al, 2004. Early-Onset Renal Cell Carcinoma as a Novel Extraparaganglial Component of SDHB-Associated Heritable Paraganglioma

Higgins et al 2003. Gene Expression Patterns in Renal Cell Carcinoma Assessed by Complementary DNA Microarray

Linehan, 2000. Molecular genetics of kidney cancer: implications for the physician

Carson et al, 1990. The mutation for medullary thyroid carcinoma with parathyroid tumors (MTC with PTs) is closely linked to the centromeric region of chromosome 10.

Farrer et al, 1987. An efficient strategy for gene mapping using multipoint linkage analysis: exclusion of the multiple endocrine neoplasia 2A (MEN2A) locus from chromosome 13.

Pneumothorax – General Reading:

Kelly AM, 2009. Treatment of primary spontaneous pneumothorax.

Sharma and Jindal, 2008. Principles of diagnosis and management of traumatic pneumothorax

O’Connor and Morgan, 2005. Radiological review of pneumothorax