| case report | Q2782326 |
| scholarly article | Q13442814 |
| P50 | author | Kristiina Aittomäki | Q29840622 |
| P2093 | author name string | Pentti Tukiainen | |
| Jodie N Painter | |||
| Mirja Somer | |||
| Hanna Tapanainen | |||
| P2860 | cites work | Lack of mutation of the folliculin gene in sporadic chromophobe renal cell carcinoma and renal oncocytoma | Q44763099 |
| Expression of Birt-Hogg-Dubé gene mRNA in normal and neoplastic human tissues | Q44895983 | ||
| On the inheritance of primary spontaneous pneumothorax | Q45785572 | ||
| Spontaneous Pneumothorax | Q54135195 | ||
| Risk of renal and colonic neoplasms and spontaneous pneumothorax in the Birt-Hogg-Dubé syndrome. | Q55035771 | ||
| Inactivation of BHD in sporadic renal tumors. | Q55036699 | ||
| A mutation in the canine BHD gene is associated with hereditary multifocal renal cystadenocarcinoma and nodular dermatofibrosis in the German Shepherd dog. | Q55037822 | ||
| Onset of symptoms in spontaneous pneumothorax: correlations to physical activity | Q69444901 | ||
| Familial spontaneous pneumothorax and HLA antigens | Q72077835 | ||
| Primary spontaneous pneumothorax in two siblings suggests autosomal recessive inheritance | Q73872378 | ||
| Blebs and/or bullae are of no importance and have no predictive value for recurrences in patients with primary spontaneous pneumothorax | Q74001168 | ||
| Familial spontaneous pneumothorax | Q74388921 | ||
| Familial spontaneous pneumothorax in three generations and its HLA | Q79123563 | ||
| Chronic obstructive pulmonary disease | Q93936786 | ||
| Mutation and cancer: statistical study of retinoblastoma | Q24618185 | ||
| 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 | Q28219681 | ||
| Parametric and nonparametric linkage analysis: a unified multipoint approach | Q28762162 | ||
| Faster sequential genetic linkage computations | Q29618265 | ||
| Spontaneous pneumothorax and alpha 1-antitrypsin deficiency. | Q33180185 | ||
| Smoking and the increased risk of contracting spontaneous pneumothorax | Q34187269 | ||
| Incidence of spontaneous pneumothorax in Olmsted County, Minnesota: 1950 to 1974 | Q34229533 | ||
| Hereditary Multiple Fibrofolliculomas With Trichodiscomas and Acrochordons | Q34242785 | ||
| Hereditary renal cancers | Q35038205 | ||
| On the progressive nature of emphysema: roles of proteases, inflammation, and mechanical forces | Q35207006 | ||
| SPONTANEOUS PNEUMOTHORAX AND PULMONARY DISEASE IN THE MARFAN SYNDROME. REPORT OF TWO CASES AND REVIEW OF THE LITERATURE. | Q35511438 | ||
| Birt-Hogg-Dubé syndrome: A review of the literature and the differential diagnosis of firm facial papules | Q35545027 | ||
| Clinical and genetic studies of Birt-Hogg-Dubé syndrome. | Q35559819 | ||
| Familial primary spontaneous pneumothorax consistent with true autosomal dominant inheritance | Q35563938 | ||
| A germ-line insertion in the Birt-Hogg-Dubé (BHD) gene gives rise to the Nihon rat model of inherited renal cancer | Q36604503 | ||
| Spontaneous pneumothorax: a retrospective review of aetiology, pathogenesis and management | Q40225893 | ||
| Analysis of the Birt-Hogg-Dubé (BHD) tumour suppressor gene in sporadic renal cell carcinoma and colorectal cancer | Q40615261 | ||
| Current aspects of spontaneous pneumothorax | Q40893477 | ||
| Respiratory complications of Ehlers-Danlos syndrome type IV. | Q41468253 | ||
| Alterations of the Birt-Hogg-Dubé gene (BHD) in sporadic colorectal tumours | Q43074055 | ||
| Mutations of the Birt-Hogg-Dube (BHD) gene in sporadic colorectal carcinomas and colorectal carcinoma cell lines with microsatellite instability | Q43074141 | ||
| P433 | issue | 3 | |
| P407 | language of work or name | English | Q1860 |
| P921 | main subject | pneumothorax | Q203601 |
| P1104 | number of pages | 6 | |
| P304 | page(s) | 522-527 | |
| P577 | publication date | 2005-01-18 | |
| P1433 | published in | American Journal of Human Genetics | Q4744249 |
| P1476 | title | A 4-bp deletion in the Birt-Hogg-Dubé gene (FLCN) causes dominantly inherited spontaneous pneumothorax | |
| P478 | volume | 76 |
| Q37372114 | A Case of Birt-Hogg-Dubé (BHD) Syndrome Harboring a Novel Folliculin (FLCN) Gene Mutation. |
| Q39498677 | A de novo FLCN mutation in a patient with spontaneous pneumothorax and renal cancer; a clinical and molecular evaluation |
| Q36942122 | A rapid NGS strategy for comprehensive molecular diagnosis of Birt-Hogg-Dubé syndrome in patients with primary spontaneous pneumothorax |
| Q37783859 | An Official American Thoracic Society Public Policy Statement: Novel Risk Factors and the Global Burden of Chronic Obstructive Pulmonary Disease |
| Q24654382 | BHD mutations, clinical and molecular genetic investigations of Birt-Hogg-Dubé syndrome: a new series of 50 families and a review of published reports |
| Q39549189 | Birt Hogg-Dubé syndrome-associated FLCN mutations disrupt protein stability |
| Q24606257 | Birt-Hogg-Dube syndrome: clinicopathological features of the lung |
| Q37693288 | Birt-Hogg-Dubé syndrome: a case report and a review of the literature. |
| Q35015888 | Birt-Hogg-Dubé syndrome: diagnosis and management |
| Q50034737 | Childhood pneumothorax in Birt-Hogg-Dubé syndrome: A cohort study and review of the literature. |
| Q36283086 | Clinical Features, Genetics and Potential Therapeutic Approaches for Birt-Hogg-Dubé Syndrome |
| Q34308406 | Clinical and genetic spectrum of Birt-Hogg-Dube syndrome patients in whom pneumothorax and/or multiple lung cysts are the presenting feature |
| Q41241668 | Clinical and genetic study of a large Chinese family presented with familial spontaneous pneumothorax |
| Q36686698 | Connective tissue spectrum abnormalities associated with spontaneous cerebrospinal fluid leaks: a prospective study |
| Q47370738 | Cystic Lung Disease in Genetic Syndromes with Deficient Tumor Suppressor Gene Function |
| Q47099540 | Difference of the progression of pulmonary cysts assessed by computed tomography among COPD, lymphangioleiomyomatosis, and Birt-Hogg-Dubé syndrome. |
| Q33735622 | Diffuse Cystic Lung Disease. Part II. |
| Q42447325 | Distinguishing the histological and radiological features of cystic lung disease in Birt-Hogg-Dubé syndrome from those of tobacco-related spontaneous pneumothorax |
| Q90408001 | FLCN-regulated miRNAs suppressed reparative response in cells and pulmonary lesions of Birt-Hogg-Dubé syndrome |
| Q36544967 | Flcn-deficient renal cells are tumorigenic and sensitive to mTOR suppression |
| Q24298493 | Folliculin interacts with p0071 (plakophilin-4) and deficiency is associated with disordered RhoA signalling, epithelial polarization and cytokinesis |
| Q33396563 | Folliculin mutations are not associated with severe COPD. |
| Q34582386 | Folliculin regulates cell-cell adhesion, AMPK, and mTORC1 in a cell-type-specific manner in lung-derived cells. |
| Q34471857 | Folliculin, the product of the Birt-Hogg-Dube tumor suppressor gene, interacts with the adherens junction protein p0071 to regulate cell-cell adhesion |
| Q24623891 | Frameshift mutation hotspot identified in Smith-Magenis syndrome: case report and review of literature |
| Q36969087 | Genetic counseling in renal masses |
| Q24626239 | Genetic interstitial lung disease |
| Q28252393 | Genotype-phenotype correlation in Smith-Magenis syndrome: evidence that multiple genes in 17p11.2 contribute to the clinical spectrum |
| Q35855144 | Lung cysts, spontaneous pneumothorax, and genetic associations in 89 families with Birt-Hogg-Dubé syndrome |
| Q35127245 | Microarray-based ultra-high resolution discovery of genomic deletion mutations |
| Q36024006 | Multicentric Genome-Wide Association Study for Primary Spontaneous Pneumothorax |
| Q43232441 | Mutations of the Birt Hogg Dube gene in patients with multiple lung cysts and recurrent pneumothorax |
| Q39530465 | Novel folliculin (FLCN) mutation and familial spontaneous pneumothorax |
| Q55042748 | Novel mutations in the BHD gene and absence of loss of heterozygosity in fibrofolliculomas of Birt-Hogg-Dubé patients. |
| Q41059223 | Primary spontaneous pneumothorax due to high bleb burden |
| Q35536837 | Pulmonary manifestations of Birt-Hogg-Dubé syndrome. |
| Q90369705 | Recurrent primary spontaneous pneumothorax in a large Chinese family: a clinical and genetic investigation |
| Q41059259 | Recurrent spontaneous pneumothoraces and bullous emphysema. A novel mutation causing Birt-Hogg-Dube syndrome |
| Q35653949 | Renal cancer and pneumothorax risk in Birt-Hogg-Dubé syndrome; an analysis of 115 FLCN mutation carriers from 35 BHD families |
| Q37733801 | Renal cancer associated with recurrent spontaneous pneumothorax in Birt-Hogg-Dubé syndrome: a case report and review of the literature |
| Q55044062 | The Birt-Hogg-Dube and tuberous sclerosis complex homologs have opposing roles in amino acid homeostasis in Schizosaccharomyces pombe. |
| Q35602650 | The folliculin mutation database: an online database of mutations associated with Birt-Hogg-Dubé syndrome |
| Q28590041 | The role of the Birt-Hogg-Dubé protein in mTOR activation and renal tumorigenesis |
| Q47693846 | The roles of intrinsic disorder-based liquid-liquid phase transitions in the "Dr. Jekyll-Mr. Hyde" behavior of proteins involved in amyotrophic lateral sclerosis and frontotemporal lobar degeneration |
| Q37343767 | Transforming growth factor-beta receptor-3 is associated with pulmonary emphysema |
| Q46024015 | [Hereditary renal cancer]. |
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