Clinical Research

2017   2016   2015   2014   2013   2012   2011   2010   2009   2008   <2007

2017

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]

2016

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]

2015

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][http://www.surgicalcasereports.com/content/1/1/17]

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] [tandfonline.com]

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]

2014

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]

Xu and Lo, 2014. Lymphangioleiomyomatosis: differential diagnosis and optimal management. [Open Access PDF] [PMID: 25187723]

2013

Bhardwaj and Bhardwaj, 2013. Differentiating pulmonary lymphangioleiomyomatosis from pulmonary langerhans cell histiocytosis and Birt-Hogg-Dube syndrome. Lung India, 30 (4), 372-3 [Open Access PDF]

Cayetano et al., 2013. Pulmonary cystic disease associated with integumentary and renal manifestations. J Biomed Res, 27 (6), 515-519 [Open Access PDF] [PMID: 24285950]

Furuya and Nakatani, 2013. Birt-Hogg-Dube syndrome: clinicopathological features of the lung. J Clin Pathol, 66 (3), 178-86 [Open Access PDF] [PMID: 23223565]

Gupta et al., 2013. Pulmonary manifestations of Birt-Hogg-Dubé syndrome. [Open Access PDF][PMID: 23715758]

Hoffman et al., 2013. Skin findings reveal deeper issues: a case of Birt-Hogg-Dube Syndrome. [Open Access PDF]

Jandaghi et al., 2013. The discovery of a Persian family with a form of Birt-Hogg-Dubé syndrome lacking the typical cutaneous stigmata of the syndrome. [Open Access PDF] [PMID: 23206616]

Kunogi Okura et al., 2013. Pneumothorax Developing for the First Time in a 73-year-old Woman Diagnosed with Birt-Hogg-Dubé Syndrome. [Open Access PDF] [PMID: 24190151]

Koo and Yoo, 2013. Multiple cystic lung disease. [Open Access PDF] [PMID: 23579924]

Lencastre et al., 2013. Birt-Hogg-Dubé syndrome. [Open Access PDF] [PMID: 24346920]

Nishii et al., 2013. Unique mutation, accelerated mTOR signaling and angiogenesis in the pulmonary cysts of Birt-Hogg-Dubé syndrome. [Open Access PDF] [PMID: 23356225]

Raymond et al., 2013. An oncocytic adrenal tumour in a patient with Birt-Hogg-Dubé syndrome. [Open Access PDF] [PMID: 23848572]

2012

Colledge and Solly, 2012. The rare disease challenge and how to promote a productive rare disease community: Case study of Birt-Hogg-Dubé symposia. [Open Access PDF] [PMID: 22950632]

Felton and Madan, 2012. Facial and upper body papules in a patient with a family history of recurrent pneumothorax. [Open Access PDF] [PMID: 23268521]

Kashiwada et al., 2012. Birt-Hogg-Dubé syndrome and familial adenomatous polyposis: an association or a coincidence? [Open Access PDF] [PMID: 22790147]

Lindor et al., 2012. Birt-Hogg-Dube syndrome presenting as multiple oncocytic parotid tumors. [Open Access PDF] [PMID: 23050938]

López et al., 2012. Birt Hogg Dube Syndrome An Update. [Open Access PDF – English] [Open Access PDF – Spanish] [PMID: 21937013]

Michels et al., 2012. Pneumomediastinum and striking family history: uncommon case of Birt-Hogg-Dubé syndrome. [Open Access PDF] [PMID: 22864127]

Nagashima et al., 2012. FLCN gene-mutated renal cell neoplasms: mother and daughter cases with a novel germline mutation. [Open Access PDF] [PMID: 22211584]

Ozer et al., 2012. Multiple lung cysts and Birt-Hogg-Dube syndrome: management of anaesthesia and surgery. [Open Access PDF]

Pimenta et al., 2012. Birt-Hogg-Dubé syndrome: metalloproteinase activity and response to doxycycline. [Open Access PDF] [PMID: 23295609]

Sattler et al., 2012. Late onset of skin manifestations in Birt-Hogg-Dubé syndrome with FLCN mutation p.W260X. [Open Access PDF] [PMID: 22068306]

Shuch et al., 2012. Targeting the mTOR pathway in Chromophobe Kidney Cancer. [Open Access PDF] [PMID: 22481981]

Tang and Hunt, 2012. Recurrent pneumothoraces after diagnostic colonoscopy. [Open Access PDF] [PMID: 22449583]

Tefekli et al., 2012. Staged, open, no-ischemia nephron-sparing surgery for bilateral-multiple kidney tumors in a patient with birt-hogg-dubé syndrome. [Open Access PDF] [PMID: 22611408]

Tobino and Seyama, 2012. Birt-Hogg-Dubé syndrome with renal angiomyolipoma. [Open Access PDF] [PMID: 22687807]

Vera-Badillo et al., 2012. Chromophobe renal cell carcinoma: A review of an uncommon entity. [Open Access PDF] [PMID: 22715810]

2011

Agarwal et al., 2011. Thoracic CT findings in Birt-Hogg-Dube syndrome. [Open Access PDF] [PMID: 21257886]

Bae et al., 2011. Spontaneous Pneumothorax in Birt-Hogg-Dube Syndrome: Two Case Reports. [Open Access PDF]

Barrisford et al., 2011. Familial renal cancer: molecular genetics and surgical management. [Open Access PDF] [PMID: 22312516]

Benhammou et al., 2011. Identification of intragenic deletions and duplication in the FLCN gene in Birt-Hogg-Dubé syndrome. [Open Access PDF] [PMID: 21412933]

Bradley et al., 2011. Birt-Hogg-Dubé syndrome: a neglected condition that increases the risk of kidney cancer and pneumothorax. [Open Access PDF – Swedish] [PMID: 22474782]

D’Hauwe et al, 2011. Letter to the Editor: Birt-Hogg-Dubé syndrome. [Open Access PDF] [PMID: 21466062]

Houweling et al., 2011. Renal cancer and pneumothorax risk in Birt-Hogg-Dubé syndrome; an analysis of 115 FLCN mutation carriers from 35 BHD families. [Open Access PDF] [PMID: 22146830]

Kasi et al., 2011. Birt-Hogg-Dubé Syndrome: Answering Questions Raised by a Case Report Published in 1962. [Open Access PDF] [PMID: 21829400]

Park et al., 2011. Genetic study in a case of birt-hogg-dubé syndrome. [Open Access PDF] [PMID: 22148047]

Pierce et al., 2011. Birt-Hogg-Dubé syndrome: an inherited cause of spontaneous pneumothorax. [Open Access PDF] [PMID: 21398229]

Predina et al., 2011. Recurrent spontaneous pneumothorax in a patient with Birt-Hogg-Dubé syndrome. [Open Access PDF] [PMID: 20692178]

Schreuer et al., 2011. Incidental radiological finding of a renal tumour leading to the diagnosis of Birt-Hogg-Dube syndrome. [Open Access PDF] [PMID: 21466061]

Shin et al., 2011. Birt-hogg-dubé syndrome, a rare case in Korea confirmed by genetic analysis. [Open Access PDF] [PMID: 22148048]

Singer et al., 2011. Impact of Genetics on the Diagnosis and Treatment of Renal Cancer. [Open Access PDF] [PMID: 21128028]

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

Truchuelo et al., 2011. Multiple Facial Papules of Birt-Hogg-Dubé Syndrome Treated with a CO(2) Laser. [Open Access PDF] [PMID: 22148071]

Verhaert, 2011. A young man with bilateral spontaneous pneumothorax. [Open Access PDF] [PMID: 22937425]

2010

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

Hayashi et al., 2010. Birt-Hogg-Dubé syndrome with multiple cysts and recurrent pneumothorax: pathological findings. [Open Access PDF] [PMID: 20930443]

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. [Open Access PDF] [PMID: 20413710]

Luh, 2010. Diagnosis and treatment of primary spontaneous pneumothorax. [Open Access PDF] [PMID: 20872980]

Sempau et al., 2010. New mutation in the Birt Hogg Dube gene. [Open Access PDF] [PMID: 20858390]

Sorbellini and Bratslavsky, 2010. Renal cell carcinoma and prognostic factors predictive of survival. [Open Access PDF] [PMID: 19908098]

Stavrakoglou et al., 2010. The Birt-Hogg-Dube syndrome: dermatological features and internal malignancies. [Open Access PDF] [PMID: 20392792]

Warwick et al., 2010. Renal cancer associated with recurrent spontaneous pneumothorax in Birt-Hogg-Dubé syndrome: a case report and review of the literature. [Open Access PDF] [PMID: 20403193]

2009

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. [Open Access PDF] [PMID: 19450277]

Coleman et al., 2009. Radiofrequency-assisted laparoscopic partial nephrectomy: clinical and histologic results. [Open Access PDF] [PMID: 17638553]

Diamond et al., 2009. Recurrent spontaneous pneumothorax as the presenting sign of the Birt-Hogg-Dubé syndrome. [Open Access PDF] [PMID: 19221390]

Fröhlich et al., 2008. Novel mutations in the folliculin gene associated with spontaneous pneumothorax. [Open Access PDF] [PMID: 18579543]

Fuertes et al., 2009. Birt-Hogg-Dubé syndrome in a patient with cutaneous symptoms and a c.1429 C > T;p.R477X mutation in exon 12 of the folliculin gene. [Open Access PDF – English] [Open Access PDF – Spanish] [PMID: 19457309]

Heung et al., 2009. Placenta-Derived Fetal Specific mRNA Is More Readily Detectable in Maternal Plasma than in Whole Blood. [Open Access PDF] [PMID: 19516908]

Ishii et al., 2009. A Japanese family with multiple lung cysts and recurrent pneumothorax: a possibility of Birt-Hogg-Dubé syndrome. [Open Access PDF] [PMID: 19687589]

Kelly, 2009. Treatment of primary spontaneous pneumothorax. [Open Access PDF] [PMID: 19373088]

Koga et al., 2009. Lung cysts in Birt-Hogg-Dubé syndrome: histopathological characteristics and aberrant sequence repeats. [Open Access PDF] [PMID: 19788617]

Linehan, 2009. Genetic Basis of Bilateral Renal Cancer: Implications for Evaluation and Management. [Open Access PDF] [PMID: 19597019]

Linehan 2009. Kidney cancer: opportunity for disease specific targeted therapy. [Open Access PDF] [PMID: 18774470]

Linguraru et al., 2009. Renal Tumor Quantification and Classification in Contrast-Enhanced Abdominal CT. [Open Access PDF] [PMID: 19492069]

Menko et al., 2009, Birt-Hogg-Dubé syndrome: diagnosis and management. [Open Access PDF] [PMID: 19959076]

Nickerson et al., 2009. Improved identification of von Hippel-Lindau gene alterations in clear cell renal tumors. [Open Access PDF] [PMID: 18676741]

Radopoulos et al., 2009. Bilateral synchronous occurrence of three different histological types of renal tumor: a case report. [Open Access PDF] [PMID: 19830124]

Rogers et al., 2009. Robotic partial nephrectomy for complex renal tumors: surgical technique. [Open Access PDF] [PMID: 17961910]

Rosner et al., 2009. The clinical implications of the genetics of renal cell carcinoma. [Open Access PDF] [PMID: 19285230]

Sanz-Ortega et al., 2009. Hereditary renal cancer. [Open Access PDF] [PMID: 19418834]

Stec et al., 2009. Chromophobe renal cell cancer – review of the literature and potential methods of treating metastatic disease. [Open Access PDF] [PMID: 19811659]

Sundaram et al., 2009. Familial spontaneous pneumothorax and lung cysts due to a Folliculin exon 10 mutation. [Open Access PDF] [PMID: 19483054]

Yusenko et al., 2009. High-resolution DNA copy number and gene expression analyses distinguish chromophobe renal cell carcinomas and renal oncocytomas. [Open Access PDF] [PMID: 19445733]

2008

Algaba, 2008. Renal Adenomas: Pathological Differential Diagnosis with Malignant Tumors. [Open Access PDF] [PMID: 18846240]

Cho et al., 2008. Folliculin mutations are not associated with severe COPD. [Open Access PDF] [PMID: 19116017]

Crispen et al., 2008. Multifocal renal cell carcinoma: clinicopathologic features and outcomes for tumors ≤4 cm. [Open Access PDF] [PMID: 18645615]

Escudier et al., 2008. Targeted therapies in the management of renal cell carcinoma: role of bevacizumab. [Open Access PDF] [PMID: 19707382]

Hidalgo and Chéchile, 2008. Familial Syndromes Coupling with Small Renal Masses. [Open Access PDF] [PMID: 18695737]

Hwang et al., 2008. Radio frequency ablation of small renal tumors: intermediate results. [Open Access PDF] [PMID: 15076283]

Janitzky et al., 2008. An unusual case of Birt-Hogg-Dube syndrome with renal involvement. Urol J , 5 (4), 272-4 [Open Access PDF] [PMID: 19101904]

Johnson et al., 2008. Feasibility and Outcomes of Repeat Partial Nephrectomy. [Open Access PDF] [PMID: 18485404]

Kim et al., 2008. A case of Birt-Hogg-Dubé syndrome. [Open Access PDF] [PMID: 18437022]

Krymskya 2008. Smooth Muscle–like Cells in Pulmonary Lymphangioleiomyomatosis. [Open Access PDF] [PMID: 18094094]

Leter et al., 2008. Birt-Hogg-Dubé syndrome: clinical and genetic studies of 20 families. [Open Access PDF] [PMID: 17611575]

Lopez-Guerrero et al., 2008. Genetic Counseling in Renal Masses. [Open Access PDF] [PMID: 19009041]

Medina and Fons, 2008. Histological Characterisation of Small Renal Masses and Incidence of Silent Renal Masses. [Open Access PDF] [PMID: 19009035]

Misago et al., 2008. A BHD germline mutation identified in an Asian family with Birt-Hogg-Dubé syndrome. [Open Access PDF] [PMID: 18709329]

Pascual and Borque, 2008. Epidemiology of Kidney Cancer. [Open Access PDF] [PMID: 19009036]

Pfaffenroth and Linehan, 2008. Genetic Basis for Kidney Cancer: Opportunity for Disease-Specific Approaches to Therapy. [Open Access PDF] [PMID: 18476789]

Palmirotta et al., 2008. Birt-Hogg-Dubé (BHD) syndrome: report of two novel germline mutations in the folliculin (FLCN) gene. [Open Access PDF] [PMID: 18573707]

Ren et al., 2008. Mutation analysis of the FLCN gene in Chinese patients with sporadic and familial isolated primary spontaneous pneumothorax. [Open Access PDF][PMID: 18505456]

Sharma and Jindal, 2008. Principles of diagnosis and management of traumatic pneumothorax. [Open Access PDF] [PMID: 19561940]

Sijmons. 2008. Encyclopaedia of tumour-associated familial disorders. Part I: from AIMAH to CHIME syndrome. [Open Access PDF] [PMID: 19706204]

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]

Woodward et al., 2008. Familial non-VHL clear cell (conventional) renal cell carcinoma: clinical features, segregation analysis, and mutation analysis of FLCN. [Open Access PDF] [PMID: 18794106]

2007

Ayo et al., 2007. Cystic lung disease in Birt-Hogg-Dube syndrome. [Open Access PDF] [PMID: 17505035]

Chang et al., 2007. A Solitary Fibrofolliculoma in the Eyelid. [Open Access PDF] [PMID: 17804924]

Furge et al., 2007. Combining differential expression, chromosomal and pathway analyses for the molecular characterization of renal cell carcinoma. [Open Access PDF] [PMID: 18542781]

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]

Gunji et al., 2007. Mutations of the Birt Hogg Dube gene in patients with multiple lung cysts and recurrent pneumothorax. [Open Access PDF] [PMID: 17496196]

Klatte et al., 2007. Understanding the Natural Biology of Kidney Cancer. Implications for Targeted Cancer Therapy. [Open Access PDF] [PMID: 17592537]

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]

Pan and Sarma, 2007. Solitary Nasal Fibrofolliculoma. [Open  Access URL ]

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]

2006

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]

2005

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]

2004

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]

2003

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]

2002

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]

Zbar et al., 2002. Risk of renal and colonic neoplasms and spontaneous pneumothorax in the Birt-Hogg-Dubé syndrome. [Open Access PDF] [PMID: 11927500]

2001

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]

2000

Linehan, 2000. Molecular genetics of kidney cancer: implications for the physician. [Open Access PDF] [PMID: 16389344]

Aoki et al., 2000. Guess what! Diagnosis and comments: Birt-Hogg-Dubé syndrome. [Open  Access URL ] [PMID: 1102334]

1990s

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. [Open Access PDF] [PMID: 1978560]

Toro et al., 1999. Birt-Hogg-Dubé syndrome: a novel marker of kidney neoplasia. [Open Access PDF] [PMID: 10522666]

1980s

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. [Open Access PDF] [PMID: 2883889]

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