2022 2021 2020 2019 2018 2017 2016 2015 2014 2013 2012 2011 2010 2009 2008 <2007
2022
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.
2021
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]
2020
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]
2019
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]
2018
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]
2017
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]
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
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]
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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