Clinical Research

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O’Reilly et al., 2022. An index case of Birt Hogg Dube Syndrome. [Open Access PDF]

Lagerstedt-Robinson K et al., 2022. A retrospective two centre study of Birt-Hogg-Dubé syndrome reveals a pathogenic founder mutation in FLCN in the Swedish population [Open Access PDF] (PMID: 35176117]

Steinline et al., 2022. A Challenge in Genetic Tumor Syndromes: Delayed Diagnosis Aggravated by Gender Bias in Birt-Hogg-Dubé Syndrome.

Ondrej et al., 2022. Do we need an updated classification of oncocytic renal tumors? [PMID: 35273336]

Bratslavsky et al., 2022. Comprehensive genomic profiling (CGP) of chromophobe renal cell carcinoma (chrRCC) compared with clear cell RCC (ccRCC): Impact of FLCN genomic alteration (GA) status.


Eun Jeong Ko et al., 2021. Generation of the human induced pluripotent stem cell lines (CMCi009-A) from a patient with Birt-Hogg-Dubé syndrome (BHD) with heterozygous frameshift deletion mutation c.1285delC of the FLCN gene. [PMID: 33540282]

Nirajan et al., 2021. A case report of recurrent pneumothoraces as a presentation of Birt Hogg Dube syndrome. [PMID: 33532236]

Thakare et al., 2021. Birt-Hogg-Dubé syndrome – a unique case series. [PMID: 33471358]

Sattler, E et al,. 2021. Colorectal cancer risk in families with Birt-Hogg-Dubé syndrome increased. [PMID: 34000505]

Şimşek, Ş et al,. 2021. Birt Hogg Dube syndrome: Rare family lung disease. [PMID: 33853312]

Radzikowska, DE et al,. 2021. Novel Folliculin Gene Mutations in Polish Patients With Birt-hogg-dubé Syndrome. [Open Access PDF] [PMID: 34229741]

Covello, B et al,. 2021. A case of bilateral renal oncocytomas in the setting of Birt-Hogg-Dube syndrome. [Open Access PDF] [PMID: 33868530]

Adhikari, N et al,. 2021. A case report of recurrent pneumothoraces as a presentation of Birt Hogg Dube syndrome. [Open Access PDF] [PMID: 33532236]

Bongetti, E et al,. 2021. Metastatic follicular thyroid cancer in a patient with Birt-Hogg-Dube syndrome. [Open Access PDF] [PMID: 33489141]

Atsukawa, N et al,. 2021. A Case of Birt-Hogg-Dube Syndrome with Renal Cancer Treated as Multiple Metastases of Cancer of Unknown Primary. [Open Access PDF] [PMID: 33814490]

Reilly, D et al,. 2021. Birt-Hogg-Dube Syndrome presenting with chronic progressive dyspnea.  [Open Access PDF]  [PMID: 33912385]

Ciancio, G et al,. 2021. Challenging cases of renal cell cancers with or without tumour thrombus during the covid-19 pandemic. [Open Access PDF] [PMID: 33419828]

Arango-Diaz, A et al,. 2021, CT findings of pulmonary cysts. [PMID: 33741130]

Hu, X et al,. 2021. Birt-Hogg-Dubé syndrome in Chinese patients: a literature review of 120 families. [Open Access PDF] [PMID: 34001170]

Bajwa, D et al,. 2021. Multifocal extracardiac rhabdomyomas: Extending the phenotype of Birt-Hogg-Dubé syndrome. [Open Access PDF] [PMID: 34048023]

Muller, M et al,. 2021. Prevalence of Birt-Hogg-Dubé Syndrome Determined Through Epidemiological Data on Spontaneous Pneumothorax and Bayes Theorem. [Open Access PDF] [PMID: 33987191]

Marciniak, S et al,. 2021. COVID-19 Pneumothorax in the United Kingdom: a prospective observational study using the ISARIC WHO clinical characterisation protocol. [Open Access PDF] [PMID: 34083401]

Palumbo, D et al,. 2021. Pneumothorax/pneumomediastinum in non-intubated COVID-19 patients: Differences between first and second Italian pandemic wave. [Open Access PDF] [PMID: 33820685]

De Pace, C .C et al,. 2021. A case of severe allergic eosinophilic asthma with nasal polyposis in a patient affected by Birt-Hogg-Dube syndrome successfully treated with benralizumab. [Open Access PDF] [34148334]


Brown, S et al,. 2020. Conservative versus Interventional Treatment for Spontaneous Pneumothorax. [Open Access PDF] [PMID: 31995686]

Van de Beek, I et al,. 2020. No evidence for increased prevalence of colorectal carcinoma in 399 Dutch patients with Birt-Hogg-Dubé syndrome. [Open Access PDF] [PMID:  31857718]

Murthy, N et al,. 2020. A Case of Birt-Hogg-Dubé Syndrome and Multiple Intracranial Aneurysms. [Open Access PDF] [PMID: 32190447]

Guo, T et al,. 2021. The clinical characteristics of East Asian patients with Birt-Hogg-Dube syndrome. [Open Access PDF] [PMID: 33313181]

Gündoğdu, E et al,. 2020. Birt-Hogg-Dube Syndrome Incidentally Identified in a Potential Liver Donor. [PMID: 33334292]

Suzuki, K et al,. 2020. Quantitative Analysis of Cystic Lung Diseases by Use of Paired Inspiratory and Expiratory CT: Estimation of the Extent of Cyst-Airway Communication and Evaluation of Diagnostic Utility. [Open Access PDF] [PMID: 33778553]

Marziali, V et al,. 2020. Focus on the pulmonary involvement and genetic patterns in Birt-Hogg-Dubè syndrome: Literature review. [PMID: 32469710]

Elif Gündoğdu et al., 2020. Birt-Hogg-Dubé Syndrome Incidentally Identified in a Potential Liver Donor. [PMID: 33334292]

Guo et al., 2020. The clinical characteristics of East Asian patients with Birt-Hogg-Dubé syndrome. [Open Access PDF] [PMID: 33313181]

Zong et al., 2020. Identification of a Novel Pathogenic Folliculin Variant in a Chinese Family With Birt-Hogg-Dubé Syndrome (Hornstein-Knickenberg Syndrome). [Open Access PDF] [PMID: 33240319]

Kurata et al., 2020. Lymphoplasmacytic lymphoma in a patient with Birt-Hogg-Dubé syndrome. [Open Access PDF] [PMID: 32789566]

Pagger et al., 2020. Secondary pneumothorax associated with Birt-Hogg-Dubé syndrome: a case report. [Open Access PDF] [PMID: 32642019]

Ardolino et al., 2020. Birt-Hogg-Dubé syndrome presenting with macroscopic pulmonary cyst formation in a 15-year-old. [Open Access PDF] [PMID: 32595975]

Daccord et al., 2020. Lung function in Birt-Hogg-Dubé syndrome: a retrospective analysis of 96 patients. [Open Access PDF] [PMID: 32448321]

Tzilas et al., 2020. Cystic lung disease in Birt-Hogg-Dubé syndrome. A case series. [Open Access PDF] [PMID: 32420021]

Vogl et al., 2020. A novel mutation of the folliculin gene causing Birt-Hogg-Dubé syndrome as rare cause for secondary pneumothorax. [Open Access PDF] [PMID: 32257251]

Goto et al., 2020. A familial case of Birt-Hogg-Dubé syndrome complicated with various cancers. [Open Access PDF] [PMID: 32190329]

Balsamo et al., 2020. Birt-Hogg-Dubé syndrome with simultaneous hyperplastic polyposis of the gastrointestinal tract: case report and review of the literature. [Open Access PDF] [PMID: 32171268]

Yadala et al., 2020. Breast cancer in a patient with Birt-Hogg-Dubé syndrome (BHDS) with dramatic response to neoadjuvant chemotherapy. [PMID: 32024715]

Sattler et al., 2020. Genetic Risk Factors for Spontaneous Pneumothorax in Birt-Hogg-Dubé Syndrome. [PMID: 31958439]


Enomoto et al., 2019. A case of Birt-Hogg-Dubé syndrome implying reduced or no wild-type folliculin without mutated protein is pathogenic. [PMID: 31778855]

Furuya et al., 2019. Birt-Hogg-Dubé syndrome-associated renal cell carcinoma: Histopathological features and diagnostic conundrum. [Open Access PDF] [PMID: 31777168]

Han et al., 2019. Birt-Hogg-Dubé syndrome caused by a mutation of FLCN gene in a CVST patient: a case report. [PMID: 31694440]

Yavuz et al., 2019. A novel FLCN mutation in family members diagnosed with primary spontaneous pneumothorax. [Open Access PDF] [PMID: 31625278]

Liu et al., 2019. Genotypic characteristics of Chinese patients with BHD syndrome and functional analysis of FLCN variants. [Open Access PDF] [PMID: 31615547]

Zheng et al., 2019. Recurrent primary spontaneous pneumothorax in a large Chinese family: a clinical and genetic investigation. [Open Access PDF] [PMID: 31567476]

Kumar et al., 2019. Birt-Hogg-Dubé syndrome presenting with spontaneous pneumothorax and extensive pulmonary cysts in the absence of skin lesions or renal pathology. [PMID: 31494588]

Torricelli et al., 2019. The Relevance of Family History Taking in the Detection and Management of Birt-Hogg-Dubé Syndrome. [Open Access PDF] [PMID: 31266032]

Liu et al., 2019. Familial spontaneous pneumothorax: importance of screening for Birt-Hogg-Dubé syndrome. [PMID: 31177286]

Furuya et al., 2019. Pathology of Birt-Hogg-Dubé syndrome: A special reference of pulmonary manifestations in a Japanese population with a comprehensive analysis and review. [PMID: 30632664]


Mizobuchi, T et al,. 2018. A total pleural covering of absorbable cellulose mesh prevents pneumothorax recurrence in patients with Birt-Hogg-Dubé syndrome.  [Open access PDF] [PMID: 29764481]

Yoshida, K et al,. 2018. Parotid Oncocytoma as a Manifestation of Birt-Hogg-Dubé Syndrome. [Open Access PDF] [PMID: 29971177]

Tong, Y et al,. 2018. Birt–Hogg–Dubé Syndrome: A Review of Dermatological Manifestations and Other Symptoms. [PMID: 28695430]

Lee J et al, . 2018. Birt-Hogg-Dubé syndrome in Korean: Clinicora-diologic features and long term follow-up. [Open Access PDF] [PMID: 30360018]

Volk et al., 2018. Birt-Hogg-Dubé Syndrome Caused by a Novel Mutation in the FLCL Gene. [Open Access PDF] [PMID: 30533232]

Coutinho et al., 2018. Renal transplantation in Birt-Hogg-Dubé syndrome: should we? [Open Access PDF] [PMID: 30326848]

Hasumi et al., 2018. BHD-associated kidney cancer exhibits unique molecular characteristics and a wide variety of variants in chromatin remodeling genes. [Open Access PDF] [PMID: 29767721]

Balakumar et al., 2018. Adult-Type Rhabdomyoma of the Larynx in Birt-Hogg-Dubé Syndrome: Evidence for a Real Association. [Open Access PDF] [PMID: 29744825]

Furuya et al., 2018. Splice-site mutation causing partial retention of intron in the FLCN gene in Birt-Hogg-Dubé syndrome: a case report. [Open Access PDF] [PMID: 29720200]

Sattler et al., 2018. Delayed diagnosis of Birt-Hogg-Dubé syndrome due to marked intrafamilial clinical variability: a case report. [Open Access PDF] [PMID: 29548312]

Hou et al., 2018. Birt-Hogg-Dubé syndrome in two Chinese families with mutations in the FLCN gene. [Open Access PDF] [PMID: 29357828]

Bock et al., 2018. Birt-Hogg-Dubé syndrome: spontaneous pneumothorax as a first symptom. [PMID: 29321196]


Ather et al., 2018. Recurrent renal cancer in Birt-Hogg-Dubé syndrome: A case report. [Open Access PDF] [PMID: 29223882]

Iwabuchi et al., 2018. Skin lesions of Birt-Hogg-Dubé syndrome: Clinical and histopathological findings in 31 Japanese patients who presented with pneumothorax and/or multiple lung cysts. [Open Access PDF] [PMID: 29157599]

Oliviera et al., 2018. Birt-Hogg-Dubé syndrome: awareness is important! [PMID: 29066638]

Takegahara et al., 2017. A Case of Recurrent Pneumothorax Associated with Birt-Hogg-Dubé Syndrome Treated with Bilateral Simultaneous Surgery and Total Pleural Covering. [Open Access PDF] [PMID: 28690286]

Davidsen et al., 2017. Lung ultrasound has limited diagnostic value in rare cystic lung diseases: a cross-sectional study. [Open Access PDF] [PMID: 28649310]

Schneider et al., 2017.Early onset renal cell carcinoma in an adolescent girl with germline FLCN exon 5 deletion. [PMID: 28623476]

Cooley et al., 2017. Spontaneous pneumothorax in diffuse cystic lung diseases. [PMID: 28590337]

Liu et al., 2017. Clinical and genetic characteristics of chinese patients with Birt-Hogg-Dubé syndrome. [Open Access PDF] [PMID: 28558743]

Marous et al., 2017. Choroidal melanoma, sector melanocytosis, and retinal pigment epithelial microdetachments in Birt-Hogg-Dubé Syndrome. [PMID: 28541267]

Rato et al., 2017. Birt-Hogg-Dubé Syndrome – report of two cases with two new mutations. [PMID: 28539984]

Bartram et al., 2017. Characterization of a splice-site mutation in the tumor suppressor gene FLCN associated with renal cancer. [Open Access PDF][PMID: 28499369]

Kam et al., 2017. Chronic peritoneal inflammation and nodules masquerading as peritoneal carcinomatosis in Birt-Hogg-Dube syndrome. [PMID: 28470670]

Sasso et al., 2017. High resolution computed tomography of the chest in the evaluation of patients with Birt-Hogg-Dubé syndrome. [Open Access PDF][PMID: 28330623]

Jensen et al., 2017. Birt-Hogg-Dubé syndrome: a case report and a review of the literature. [Open Access PDF] [PMID: 28326182]

Gupta et al., 2017. Spontaneous Pneumothoraces in Patients with Birt-Hogg-Dubé Syndrome. [PMID: 28248571]

Garcia et al., 2017. Medullary thyroid carcinoma in a patient with Birt-Hogg-Dube syndrome. [PMID: 28242119]

Hao et al., 2017. Birt–Hogg–Dubé syndrome: a literature review and case study of a Chinese woman presenting a novel FLCN mutation. [Open Access PDF] [PMID: 28222720]

Park et al., 2017. Birt-Hogg-Dube syndrome prospectively detected by review of chest computed tomography scans. [Open Access PDF] [PMID: 28151982]

Kennedy et al., 2017. An Overview of Autosomal Dominant Tumour Syndromes with Prominent Features in the Oral and Maxillofacial Region. [Open Access PDF] [PMID: 28110467]

Li et al., 2017. Novel germline mutations in FLCN gene identified in two Chinese patients with Birt-Hogg-Dubé syndrome. [Open Access PDF] [PMID: 28069055]


Lattouf et al., 2016. Structured assessment and followup for patients with hereditary kidney tumour syndromes. [Open Access PDF] [PMID: 28255411]

Hasumi et al., 2016. H255Y and K508R missense mutations in tumour suppressor folliculin (FLCN) promote kidney cell proliferation. [PMID: 28007907]

Castellucci et al., 2016. Multiple chromophobe and clear cell renal cancer in a patient affected by Birt-Hogg-Dubè syndrome: a case report. [PMID: 28009417]

Wiyono et al., 2016. Birt-Hogg-Dubé syndrome in an Indonesian patient with folliculin gene mutation. [Open Access PDF] [PMID: 28031834]

Monserrate et al., 2016. A Case of Birt-Hogg-Dubé, Presenting With Recurrent Pneumothorax, Managed With Intrabronchial Valve Placement. [PMID: 27984390]

Tanegashima et al., 2016. Clinical features of Birt-Hogg-Dubé syndrome: A Japanese case with pulmonary cysts, fibrofolliculomas and renal cell carcinoma. [PMID: 27943432]

Radzikowska et al., 2016. Familial pneumothoraces: Birt-Hogg-Dubé syndrome. [Open Access PDF] [PMID: 27906882]

Gunji-Niitsu et al., 2016. Benign clear cell “sugar” tumor of the lung in a patient with Birt-Hogg-Dubé syndrome: a case report. [Open Access PDF] [PMID: 27871249]

Matsutani et al., 2016. Birt-Hogg-Dube syndrome accompanied by pulmonary arteriovenous malformation. [Open Access PDF] [PMID: 27867584]

Yukawa et al., 2016. A Case of Birt-Hogg-Dubé (BHD) Syndrome Harboring a Novel Folliculin (FLCN) Gene Mutation. [Open Access PDF] [PMID: 27780965]

Furuya et al., 2016. Genetic, epidemiologic and clinicopathologic studies of Japanese Asian patients with Birt-Hogg-Dubé syndrome. [PMID: 27220747]

Gupta et al., 2016. Chest Computed Tomographic Image Screening for Cystic Lung Diseases in Patients with Spontaneous Pneumothorax is Cost-effective. [PMID: 27737563]

Rossing et al., 2016. Genetic screening of the FLCN gene identify six novel variants and a Danish founder mutation. [PMID: 27734835]

Whitworth et al., 2016. Genetically diagnosed Birt–Hogg–Dubé syndrome and familial cerebral cavernous malformations in the same individual: a case report. [Open Access PDF] [PMID: 27722904]

Park et al., 2016. A Novel FLCN c.1489_1490delTG Mutation that Escapes the Nonsense-Mediated Decay System. [PMID: 27650627]

Dow et al., 2016. Renal angiomyolipoma in Birt-Hogg-Dube syndrome: A case study supporting overlap with tuberous sclerosis complex. [PMID: 27643397]

Burkett et al., 2016. Recurrent spontaneous pneumothoraces and bullous emphysema. A novel mutation causing Birt-Hogg-Dube syndrome. [Open Access PDF] [PMID: 27642565]

Dardour et al., 2016. Bilateral renal tumors in an adult man with Smith-Magenis syndrome: The role of the FLCN gene. [Open Access PDF] [PMID: 27633572]

Johannesma et al., 2016. Risk of spontaneous pneumothorax due to air travel and diving in patients with Birt–Hogg–Dubé syndrome. [Open Access PDF] [PMID: 27652079]

Nikolaidou et al., 2016. Multiple angiomatous nodules: A novel skin tumor in Birt-Hogg-Dube Syndrome. [PMID: 27596542]

Zhu et al., 2016. Novel Folliculin (FLCN) mutation & familial spontaneous pneumothorax. [PMID: 27486260]

Sprague et al., 2016. Birt-Hogg-Dubé Syndrome Presenting as a Nevus Comedonicus-Like Lesion in an 8-Year-Old Boy. [PMID: 27470329]

Whitworth et al., 2016. Multilocus Inherited Neoplasia Alleles Syndrome: A Case Series and Review.  [Open Access PDF] [PMID: 26659639]

Minnis et al., 2016. A rare cause of cystic lung disease – Birt-Hogg-Dubé syndrome. [Open Access PDF] [PMID: 27330962]

DeMartino et al., 2016. What Pneumothoraces and Fibrofolliculomas Convey: Birt-Hogg-Dubé. [PMID: 27314164]

DiCicco et al., 2016. Koenen’s tumor and facial angiofibromas in a case of Birt-Hogg-Dube syndrome: A  cutaneous contribution to growing evidence of a relationship with tuberous sclerosis complex.  [Open Access PDF] [PMID: 27274535]

Demir et al., 2016. An 18-year-old man with recurrent pneumothorax since he was 10-year-old. [PMID: 27257988]

Dong et al., 2016. Case Report of Birt-Hogg-Dubé Syndrome: Germline Mutations of FLCN Detected in Patients With Renal Cancer and Thyroid Cancer.  [Open Access PDF] [PMID: 27258496]

Amin et al., 2016. Skin manifestations associated with kidney cancer. [PMID: 27178696]

Del Rosso et al., 2016. When Acne is Not Acne. [PMID: 27015783]

Zhang et al., 2016. A rapid NGS strategy for comprehensive molecular diagnosis of Birt-Hogg-Dubé syndrome in patients with primary spontaneous pneumothorax. [Open Access PDF] [PMID: 27229674]

Furuya et al., 2016. Genetic, Epidemiologic and Clinicopathologic Studies of Japanese Asian Patients with Birt-Hogg-DubéSyndrome.  [PMID: 27220747]

Kawashima et al., 2016. Inherited renal carcinomas. [PMID: 27108134]

Martins et al. 2016. A case of Birt-Hogg-Dubé syndrome. [Open Access PDF] [PMID: 27185410]

César et al. 2016. A case of Birt-Hogg-Dubé syndrome presenting with a single pedunculated fibrofolliculoma and a novel FLCN gene mutation. [Open Access PDF] [PMID: 27083392]

Dodds et al., 2016. Colorectal carcinoma with an oncocytic component occurring in a patient with Birt-Hogg-Dubé syndrome. [PMID: 27020508]

Jaster et al., 2016. Serendipitous discovery of peritoneal mesothelioma. [Open Access PDF] [PMID: 27034564]

Furuya et al., 2016. Pulmonary Neoplasms in Patients with Birt-Hogg-Dubé Syndrome: Histopathological Features and Genetic and Somatic Events. [Open Access PDF] [PMID: 26974543]

Bratslavsky et al., 2016. Sixth BHD Symposium and First International Upstate Kidney Cancer Symposium: latest scientific and clinical discoveries.  [Open Access PDF] [PMID: 26933819]

Ge & Lowe, 2016. Not just a cosmetic problem: facial papules in Birt-Hogg-Dubé syndrome. [Open Access PDF] [PMID: 26763815]

Martinez-Pérez et al., 2016. Birt-Hogg-Dubé syndrome and colon polyps. [Open Access PDF][PMID: 26832844] (Spanish)

Menzies et al., 2016. Birt-Hogg-Dubé syndrome: identifying patients at risk of renal cell carcinoma, pulmonary cysts and pneumothoraces. [Open Access PDF] [PMID: 26762352]

Skolik et al., 2016. Birt-Hogg-Dubé syndrome: a large single family cohort. [Open Access PDF]


Aivaz et al., 2015. Comedonal and Cystic Fibrofolliculomas in Birt-Hogg-Dube Syndrome. [PMID: 25970555]

Ardilouze et al., 2015. Birt-Hogg-Dubé syndrome: A little known cause of pulmonary cysts.  [Open Access PDF][PMID: 25022726]

Bakan et al., 2015. Birt-Hogg-Dubé syndrome: A diagnosis to consider in patients with renal cancer and pulmonary cysts. [PMID: 26297507]

Bondavalli et al., 2015. Is cardiac rhabdomyoma a feature of Birt Hogg Dubé syndrome? [Open Access PDF] [PMID: 25655561]

Francisco et al., 2015. Multiple cystic lung diseases. [Open Access PDF] [PMID: 26621970]

Furuya et al., 2015. Distinctive expression patterns of glycoprotein non-metastatic B and folliculin in renal tumors in patients with Birt-Hogg-Dubé syndrome. [Open Access PDF] [PMID: 25594584]

Guda et al., 2015. Novel recurrently mutated genes in African Americancolon cancers. [Open Access PDF] [PMID: 25583493]

Gorospe et al., 2015. Retrospective diagnosis of Birt-Hogg-Dubé syndrome in a 74-year-old male: The importance of imaging. [Open Access PDF – Spanish] [PMID: 26653075]

Ha et al., 2015. Cystic lung disease: Systematic, stepwise diagnosis. [Open Access PDF] [PMID: 25897602]

Hasumi et al., 2015. Birt-Hogg-Dubé syndrome: Clinical and molecular aspects of recently identified kidney cancer syndrome. [Open Access PDF][PMID: 26608100]

Iribe et al., 2015. Immunohistochemical characterization of renal tumors in patients with Birt-Hogg-Dubé Syndrome. [Open Access PDF] [PMID: 25597876]

Johannesma et al., 2015. Are lung cysts in renal cell cancer (RCC) patients an indication for FLCN mutation analysis? [Open Access PDF] [PMID: 26603437]

Kamada et al., 2015. Perifollicular fibromas associated with Birt-Hogg-Dubé syndrome. [PMID: 26387484]

Karadag et al., 2015. Birt-Hogg-Dube Syndrome: A Case Report [Open Access Text][PMID: 26625667]

Muira et al., 2015. Birt-Hogg-Dubé syndrome detected incidentally by asymptomatic bilateral pneumothorax in health screening: a case of a young Japanese woman. [Open Access PDF][]

Näf et al., 2015. Birt-Hogg-Dubé syndrome: novel FLCN frameshift deletion in daughter and father with renal cell carcinomas. [Open Access PDF] [PMID: 26342594]

Okada et al., 2015. Partial Pleural Covering for Intractable Pneumothorax in Patients with Birt-Hogg-Dubé Syndrome. [PMID: 26073198]

Ray et al., 2015. Genetic Analysis of Familial Spontaneous Pneumothorax in an Indian Family. [Open Access PDF] [PMID: 25827758]

Schmidt, Linehan 2015. Clinical features, genetics and potential therapeutic approaches for Birt–Hogg–Dubé syndrome. [PMID: 26581862] []

Schmidt, Linehan 2015b. Molecular genetics and clinical features of Birt-Hogg-Dubé syndrome   [PMID: 26334087:]

Tamarrini et al., 2015. Simultaneous Bilateral Spontaneous Pneumothorax Revealed Birt-Hogg-Dubè Syndrome [PMID: 26346436]

Tellechea et al., 2015. Benign Follicular Tumors. [Open Access PDF] [PMID: 26734858 ]

Zamora et al., 2015. Case 218: Birt-Hogg-Dubé syndrome. [PMID: 25997135]


Christiaan, J et al,. 2014. The pathogenesis of pneumothorax in Birt-Hogg-Dubé syndrome: A hypothesis. [PMID: 32934076]

Postmus, P et al,. 2014. In-flight pneumothorax: Diagnosis may be missed because of symptom delay. [Open Access PDF] [PMID: 25221882]

Auerbach et al. 2014. Birt-Hogg-Dubé syndrome in a patient presenting with familial spontaneous pneumothorax. [Open Access PDF][PMID: 24996715]

Benusiglio et al., 2014. Case Report: Expanding the tumour spectrum associated with the Birt-Hogg-Dubé cancer susceptibility syndrome. [Open Access PDF] [DOI: 10.12688/f1000research.4205.1]

Benusiglio et al., 2014b. Renal cell tumour characteristics in patients with the Birt-Hogg-Dubé cancer susceptibility syndrome: a retrospective, multicentre study. [Open Access PDF] [DOI: 10.1186/s13023-014-0163-z]

Bradley et al., 2014. No association between Birt-Hogg-Dubé syndrome skin fibrofolliculomas and the first 10 described human polyomaviruses or human papillomaviruses. [Open Access PDF] [PMID: 25194921]

Dal Sasso et al., 2014. Birt-Hogg-Dube´ syndrome. State-of-the-art review with emphasis on pulmonary involvement. [Open Access PDF][PMID : 25519092]

Escuissato et al., 2014. Renal tumor associated with pulmonary cysts: Birt-Hogg-Dube syndrome. [Open Access PDF] [PMID: 24599809]

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. [Open_Access_PDF] [PMID: 24910976]

Johannesma et al., 2014b. Bilateral renal tumour as indicator for Birt-Hogg-Dubé syndrome. [Open Access PDF] [PMID: 24772173]

Johannesma et al., 2014c. Spontaneous pneumothorax as indicator for Birt-Hogg-Dube syndrome in paediatric patients. [Open Access PDF] [PMID: 24994497]

Johannesma et al., 2014f. Prevalence of Birt-Hogg-Dubé syndrome in patients with apparently primary spontaneous pneumothorax. [PMID: 25537564]

Kilincer et al., 2014. Cystic lung disease in birt-hogg-dubé syndrome: a case series of three patients. [Open Access PDF] [PMID: 25610314]

Kumasaka et al., 2014. Characterization of pulmonary cysts in Birt-Hogg-Dubé syndrome: histopathological and morphometric analysis of 229 pulmonary cysts from 50 unrelated patients. [Open Access PDF] [PMID: 24393238]

Kuroda et al., 2014b. Review of renal tumors associated with Birt-Hogg-Dubé syndrome with focus on clinical and pathobiological aspects. [Open Access PDF] [PMID: 25119168]

Lin et al., 2014. Birt-hogg-dubé syndrome with clear cell renal cell carcinoma in a chinese family. [Open Access PDF][PMID:25500447]

Mikesell et al., 2014. A rare soft tissue tumor masquerading as a parathyroid adenoma in a patient with birt-hogg-dubé syndrome and multiple cervical endocrinopathies. [Open Access PDF] [PMID: 25610687]

Murakami et al., 2014. Two Japanese cases of Birt-Hogg-Dubé syndrome with pulmonary cysts, fibrofolliculomas and renal cell carcinoma. [Open Access PDF] [PMID: 24748863]

Nachira et al., 2014. Recurrent pneumothoraces and facial papules: an insidious pulmonary cystic disease. [Open Access PDF] [PMID: 24914707]

Pritchard et al., 2014. Successful treatment of facial papules with electrodessication in a patient with birt-hogg-dubé syndrome. [Open Access PDF] [PMID: 25046466]

Sirintrapun et al., 2014. Oncocytoma-like renal tumor with transformation toward high-grade oncocytic carcinoma: a unique case with morphologic, immunohistochemical, and genomic characterization. [Open Access PDF] [PMID: 25275525]

Seo et al., 2014. Two Cases of Birt-Hogg-Dubé Syndrome with Pulmonary Cysts. [Open Access PDF]

Wagle et al., 2014. Response and Acquired Resistance to Everolimus in Anaplastic Thyroid Cancer. [Open Access PDF] [PMID:25295501]

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Tomassetti et al., 2011. Pulmonary features of Birt-Hogg-Dubé syndrome: cystic lesions and pulmonary histiocytoma. [Open Access PDF] [PMID: 21356586]

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Chapman et al., 2010. Residual renal function after partial or radical nephrectomy for renal cell carcinoma. [Open Access PDF] [PMID: 20944808]

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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. [Open Access PDF] [PMID: 18234728]

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Gad et al., 2007. Mutations in BHD and TP53 genes, but not in HNF1beta gene, in a large series of sporadic chromophobe renal cell carcinoma. [Open Access PDF] [PMID: 17133269]

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Lim et al., 2007. Current understanding of the molecular mechanisms of kidney cancer: a primer for urologists. [Open Access PDF] [PMID: 18542780]

Linehan et al., 2007. Identification of the genes for kidney cancer: opportunity for disease-specific targeted therapeutics. [Open Access PDF] [PMID: 17255292]

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Toro et al., 2007. Lung cysts, spontaneous pneumothorax, and genetic associations in 89 families with Birt-Hogg-Dubé syndrome. [Open Access PDF] [PMID: 17322109]

van Steensel et al., 2007. Novel mutations in the BHD gene and absence of loss of heterozygosity in fibrofolliculomas of Birt-Hogg-Dubé patients. [Open Access PDF] [PMID: 17124507]


Adley et al., 2006. Birt-Hogg-Dubé Syndrome: clinicopathologic findings and genetic alterations. [Open Access PDF] [PMID: 17149965]

Francis, 2006. Detection, staging and surveillance in renal cell carcinoma. [Open Access PDF] [PMID: 17098649]

Patel et al., 2006. Targeted therapy for metastatic renal cell carcinoma. [Open Access PDF] [PMID: 16465192]

Pithukpakorn et al., 2006. Fumarate hydratase enzyme activity in lymphoblastoid cells and fibroblasts of individuals in families with hereditary leiomyomatosis and renal cell cancer. [Open Access PDF] [PMID: 16597677]

Pittet et al., 2006. Diagnosis of Birt-Hogg-Dube syndrome in a patient with spontaneous pneumothorax. [Open Access PDF] [PMID: 16928562]


Graham et al., 2005. Nonsense mutations in folliculin presenting as isolated familial spontaneous pneumothorax in adults. [Open Access PDF] [PMID: 15805188]

Lee et al., 2005. Genetics of skin appendage neoplasms and related syndromes. [Open Access PDF] [PMID: 16272260]

O’Connor and Morgan, 2005. Radiological review of pneumothorax. [Open Access PDF] [PMID: 15976424]

Painter et al., 2005. A 4-bp deletion in the Birt-Hogg-Dubé gene (FLCN) causes dominantly inherited spontaneous pneumothorax. [Open Access PDF] [PMID: 15657874]

Schmidt et al., 2005. Germline BHD-mutation spectrum and phenotype analysis of a large cohort of families with Birt-Hogg-Dubé syndrome. [Open Access PDF] [PMID: 15852235]

Schuetz et al., 2005. Molecular Classification of Renal Tumors by Gene Expression Profiling. [Open Access PDF] [PMID: 15858144]

Souza et al., 2005. Birt-Hogg-Dubé syndrome: a rare cause of pulmonary cysts. [Open Access PDF] [PMID: 16247141]

Vocke et al., 2005. High frequency of somatic frameshift BHD gene mutations in Birt-Hogg-Dubé-associated renal tumors. [Open Access PDF] [PMID: 15956655]


Gruson LM, 2004. Birt-Hogg-Dube syndrome. [Open  Access URL ] [PMID: 15748585]

Linehan et al., 2004. Genetic basis of cancer of the kidney. disease-specific approaches to therapy. [Open Access PDF] [PMID: 15448018]

Vanharanta et al., 2004. Early-onset renal cell carcinoma as a novel extraparaganglial component of SDHB-associated heritable paraganglioma. [Open Access PDF] [PMID: 14685938]


da Silva et al., 2003. Analysis of the Birt-Hogg-Dubé (BHD) tumour suppressor gene in sporadic renal cell carcinoma and colorectal cancer. [Open Access PDF] [PMID: 14627671]

Higgins et al., 2003. Gene Expression Patterns in Renal Cell Carcinoma Assessed by Complementary DNA Microarray. [Open Access PDF] [PMID: 12598325]

Kahnoski et al., 2003. Alterations of the Birt-Hogg-Dubé gene (BHD) in sporadic colorectal tumours. [Open Access PDF] [PMID: 12843323]

Khoo et al., 2003. Inactivation of BHD in sporadic renal tumors. [Open Access PDF] [PMID: 12907635]

Shin et al., 2003. Mutations of the Birt-Hogg-Dubé (BHD) gene in sporadic colorectal carcinomas and colorectal carcinoma cell lines with microsatellite instability. [Open Access PDF] [PMID: 12746401]


Khoo et al., 2002. Clinical and genetic studies of Birt-Hogg-Dubé syndrome. [Open Access PDF] [PMID: 12471204]

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. [Open Access PDF] [PMID: 12204536]

Toro et al., 2002. Exclusion of PTEN, CTNNB1, and PTCH as candidate genes for Birt-Hogg-Dube syndrome. [Open Access PDF] [PMID: 11836379]

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Khoo et al., 2001. Birt-Hogg-Dubé syndrome: mapping of a novel hereditary neoplasia gene to chromosome 17p12-q11.2. [Open Access PDF] [PMID: 11526515]

Schmidt et al., 2001. Birt-Hogg-Dubé syndrome, a genodermatosis associated with spontaneous pneumothorax and kidney neoplasia, maps to chromosome 17p11.2. [Open Access PDF] [PMID: 11533913]


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