Condition: Multiple fibrofolliculomas


rs1060502368 in FLCN gene and Multiple fibrofolliculomas PMID 15852235 2005 Germline BHD-mutation spectrum and phenotype analysis of a large cohort of families with Birt-Hogg-Dubé syndrome.

PMID 20413710 2010 Clinical and genetic spectrum of Birt-Hogg-Dube syndrome patients in whom pneumothorax and/or multiple lung cysts are the presenting feature.

PMID 24393238 2014 Characterization of pulmonary cysts in Birt-Hogg-Dubé syndrome: histopathological and morphometric analysis of 229 pulmonary cysts from 50 unrelated patients.

PMID 21520333 2011 LOVD v.2.0: the next generation in gene variant databases.

PMID 18579543 2008 Novel mutations in the folliculin gene associated with spontaneous pneumothorax.

PMID 22068306 2012 Late onset of skin manifestations in Birt-Hogg-Dubé syndrome with FLCN mutation p.W260X.

PMID 18234728 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.

PMID 22146830 2011 Renal cancer and pneumothorax risk in Birt-Hogg-Dubé syndrome; an analysis of 115 FLCN mutation carriers from 35 BHD families.

PMID 20522427 2010 Investigation of the Birt-Hogg-Dube tumour suppressor gene (FLCN) in familial and sporadic colorectal cancer.

PMID 27470329 2016 Birt-Hogg-Dubé Syndrome Presenting as a Nevus Comedonicus-Like Lesion in an 8-Year-Old Boy.

PMID 27643397 2016 Renal angiomyolipoma in Birt-Hogg-Dube syndrome: A case study supporting overlap with tuberous sclerosis complex.

PMID 19785621 2010 Birt-Hogg-Dubé syndrome: clinical and genetic studies of 10 French families.

PMID 18794106 2008 Familial non-VHL clear cell (conventional) renal cell carcinoma: clinical features, segregation analysis, and mutation analysis of FLCN.

PMID 27356891 2016 Undefined familial colorectal cancer and the role of pleiotropism in cancer susceptibility genes.

PMID 26402642 2016 Capture-based high-coverage NGS: a powerful tool to uncover a wide spectrum of mutation types.

PMID 12204536 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.

PMID 19802896 2010 A new locus-specific database (LSDB) for mutations in the folliculin (FLCN) gene.

PMID 23784378 2013 Birt-Hogg-Dube syndrome is a novel ciliopathy.

PMID 26603437 2016 Are lung cysts in renal cell cancer (RCC) patients an indication for FLCN mutation analysis?

PMID 23264078 2013 A de novo FLCN mutation in a patient with spontaneous pneumothorax and renal cancer; a clinical and molecular evaluation.

PMID 27652079 2016 Risk of spontaneous pneumothorax due to air travel and diving in patients with Birt-Hogg-Dubé syndrome.

PMID 27257988 2016 An 18-year-old man with recurrent pneumothorax since he was 10-year-old.

PMID 23050938 2012 Birt-Hogg-Dube syndrome presenting as multiple oncocytic parotid tumors.

PMID 21937013 2012 [Birt-Hogg-Dubé syndrome: an update].

PMID 23386036 2013 Where Birt-Hogg-Dubé meets Cowden syndrome: mirrored genetic defects in two cases of syndromic oncocytic tumours.

PMID 20618353 2011 Constitutional FLCN mutations in patients with suspected Birt-Hogg-Dubé syndrome ascertained for non-cutaneous manifestations.

PMID 18505456 2008 Mutation analysis of the FLCN gene in Chinese patients with sporadic and familial isolated primary spontaneous pneumothorax.

PMID 28724667 2017 Germline Mutations in Cancer Susceptibility Genes in a Large Series of Unselected Breast Cancer Patients.

PMID 21538689 2011 Birt Hogg-Dubé syndrome-associated FLCN mutations disrupt protein stability.

PMID 27906882 2016 Familial pneumothoraces: Birt-Hogg-Dubé syndrome.

PMID 22571569 2012 Birt-Hogg-Dubé syndrome with a renal angiomyolipoma: further evidence of a relationship between Birt-Hogg-Dubé syndrome and tuberous sclerosis complex.

PMID 23414156 2013 Birt-Hogg-Dubé syndrome in a patient with melanoma and a novel mutation in the FCLN gene.

rs137852929 in FLCN;MPRIP gene and Multiple fibrofolliculomas PMID 12204536 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.

PMID 15852235 2005 Germline BHD-mutation spectrum and phenotype analysis of a large cohort of families with Birt-Hogg-Dubé syndrome.

PMID 18234728 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.

PMID 25519458 2014 Renal cell tumour characteristics in patients with the Birt-Hogg-Dubé cancer susceptibility syndrome: a retrospective, multicentre study.

PMID 28869776 2018 Cutaneous melanoma in Birt-Hogg-Dubé syndrome: part of the clinical spectrum?

PMID 25394175 2015 A practice guideline from the American College of Medical Genetics and Genomics and the National Society of Genetic Counselors: referral indications for cancer predisposition assessment.

PMID 24319509 2013 Canadian guideline on genetic screening for hereditary renal cell cancers.

PMID 22679611 2012 Birt-Hogg-Dubé syndrome: report of a new mutation.

PMID 21538689 2011 Birt Hogg-Dubé syndrome-associated FLCN mutations disrupt protein stability.

PMID 23364595 2013 The Case ; Bilateral kidney tumors and lung cysts.

PMID 27356891 2016 Undefined familial colorectal cancer and the role of pleiotropism in cancer susceptibility genes.

PMID 23848572 2014 An oncocytic adrenal tumour in a patient with Birt-Hogg-Dubé syndrome.

PMID 19802896 2010 A new locus-specific database (LSDB) for mutations in the folliculin (FLCN) gene.

PMID 18794106 2008 Familial non-VHL clear cell (conventional) renal cell carcinoma: clinical features, segregation analysis, and mutation analysis of FLCN.

PMID 20618353 2011 Constitutional FLCN mutations in patients with suspected Birt-Hogg-Dubé syndrome ascertained for non-cutaneous manifestations.

PMID 28558743 2017 Clinical and genetic characteristics of chinese patients with Birt-Hogg-Dubé syndrome.

PMID 19457309 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].

PMID 24393238 2014 Characterization of pulmonary cysts in Birt-Hogg-Dubé syndrome: histopathological and morphometric analysis of 229 pulmonary cysts from 50 unrelated patients.

rs1064793128 in MPRIP;FLCN gene and Multiple fibrofolliculomas PMID 18234728 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.

PMID 28009417 2017 Multiple chromophobe and clear cell renal cancer in a patient affected by Birt-Hogg-Dubè syndrome: a case report.

PMID 27220747 2016 Genetic, epidemiologic and clinicopathologic studies of Japanese Asian patients with Birt-Hogg-Dubé syndrome.

PMID 26943385 2015 Birt-Hogg-Dubé syndrome detected incidentally by asymptomatic bilateral pneumothorax in health screening: a case of a young Japanese woman.

PMID 20618353 2011 Constitutional FLCN mutations in patients with suspected Birt-Hogg-Dubé syndrome ascertained for non-cutaneous manifestations.

PMID 15852235 2005 Germline BHD-mutation spectrum and phenotype analysis of a large cohort of families with Birt-Hogg-Dubé syndrome.

PMID 26334087 2015 Molecular genetics and clinical features of Birt-Hogg-Dubé syndrome.

PMID 18403135 2008 Identification and characterization of a novel folliculin-interacting protein FNIP2.

PMID 18663353 2008 Interaction of folliculin (Birt-Hogg-Dubé gene product) with a novel Fnip1-like (FnipL/Fnip2) protein.

PMID 20413710 2010 Clinical and genetic spectrum of Birt-Hogg-Dube syndrome patients in whom pneumothorax and/or multiple lung cysts are the presenting feature.

PMID 17028174 2006 Folliculin encoded by the BHD gene interacts with a binding protein, FNIP1, and AMPK, and is involved in AMPK and mTOR signaling.

PMID 22977732 2012 Crystal structure of folliculin reveals a hidDENN function in genetically inherited renal cancer.

PMID 19802896 2010 A new locus-specific database (LSDB) for mutations in the folliculin (FLCN) gene.

PMID 24994497 2014 Spontaneous pneumothorax as indicator for Birt-Hogg-Dubé syndrome in paediatric patients.

PMID 28499369 2017 Characterization of a splice-site mutation in the tumor suppressor gene FLCN associated with renal cancer.

PMID 24190151 2013 Pneumothorax developing for the first time in a 73-year-old woman diagnosed with Birt-Hogg-Dubé syndrome.

PMID 27734835 2017 Genetic screening of the FLCN gene identify six novel variants and a Danish founder mutation.

PMID 25519458 2014 Renal cell tumour characteristics in patients with the Birt-Hogg-Dubé cancer susceptibility syndrome: a retrospective, multicentre study.

PMID 25827758 2015 Genetic analysis of familial spontaneous pneumothorax in an Indian family.

PMID 20522427 2010 Investigation of the Birt-Hogg-Dube tumour suppressor gene (FLCN) in familial and sporadic colorectal cancer.

PMID 17496196 2007 Mutations of the Birt Hogg Dube gene in patients with multiple lung cysts and recurrent pneumothorax.

PMID 12471204 2002 Clinical and genetic studies of Birt-Hogg-Dubé syndrome.

PMID 12204536 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.

PMID 27642565 2016 Recurrent spontaneous pneumothoraces and bullous emphysema. A novel mutation causing Birt-Hogg-Dube syndrome.