Lung cysts, spontaneous pneumothorax, and genetic associations in 89 families with Birt-Hogg-Dubé syndrome - Wikidata - wikimedia - TriplyDB

Lung cysts, spontaneous pneumothorax, and genetic associations in 89 families with Birt-Hogg-Dubé syndrome

Lung cysts, spontaneous pneumothorax, and genetic associations in 89 families with Birt-Hogg-Dubé syndrome

http://www.wikidata.org/entity/Q35855144

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Birt-Hogg-Dube syndrome: clinicopathological features of the lung Frameshift mutation hotspot identified in Smith-Magenis syndrome: case report and review of literature Genetic interstitial lung disease BHD mutations, clinical and molecular genetic investigations of Birt-Hogg-Dubé syndrome: a new series of 50 families and a review of published reports The metabolic basis of kidney cancer Folliculin mutations are not associated with severe COPD.Topical rapamycin as a treatment for fibrofolliculomas in Birt-Hogg-Dubé syndrome: a double-blind placebo-controlled randomized split-face trial.Diffuse Cystic Lung Disease. Part II.Clinical and genetic characteristics of chinese patients with Birt-Hogg-Dubé syndrome Diffuse cystic lung diseases: differential diagnosis Molecular diagnosis and therapy of kidney cancer.The genetic basis of kidney cancer: a metabolic disease Non-clear cell renal cancer: disease-based management and opportunities for targeted therapeutic approaches.Unusual causes of pneumothorax Pneumothorax: a tale of pain or spontaneity.Birt-Hogg-Dubé syndrome: an inherited cause of spontaneous pneumothorax Pulmonary manifestations of Birt-Hogg-Dubé syndrome.Nephron-sparing surgery for multifocal and hereditary renal tumors.Renal cancer and pneumothorax risk in Birt-Hogg-Dubé syndrome; an analysis of 115 FLCN mutation carriers from 35 BHD families Simultaneous Bilateral Spontaneous Pneumothorax Revealed Birt-Hogg-Dubè Syndrome.Birt-Hogg-Dubé syndrome: report of a new mutation.Birt-Hogg-Dube syndrome prospectively detected by review of chest computed tomography scans Clinical Features, Genetics and Potential Therapeutic Approaches for Birt-Hogg-Dubé Syndrome.Birt-Hogg-Dubé syndrome: a literature review and case study of a Chinese woman presenting a novel FLCN mutation Characteristic CT appearance of lung cysts prompting the diagnosis of a rare genodermatosis Birt-Hogg-Dubé syndrome: metalloproteinase activity and response to doxycycline.Birt-Hogg-Dubé syndrome: a large single family cohort.A rapid NGS strategy for comprehensive molecular diagnosis of Birt-Hogg-Dubé syndrome in patients with primary spontaneous pneumothorax Case Report of Birt-Hogg-Dubé Syndrome: Germline Mutations of FLCN Detected in Patients With Renal Cancer and Thyroid Cancer.A Case of Birt-Hogg-Dubé (BHD) Syndrome Harboring a Novel Folliculin (FLCN) Gene Mutation.Molecular genetics and clinical features of Birt-Hogg-Dubé syndrome.Structured assessment and followup for patients with hereditary kidney tumour syndromes.Birt-Hogg-Dubé syndrome: a case report and a review of the literature.Renal cancer associated with recurrent spontaneous pneumothorax in Birt-Hogg-Dubé syndrome: a case report and review of the literature.Diffuse cystic lung diseases.Cystic lung disease.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.Bilateral renal tumour as indicator for birt-hogg-dubé syndrome.Birt-Hogg-Dubé syndrome: Clinical and molecular aspects of recently identified kidney cancer syndrome.Spontaneous pneumothorax in diffuse cystic lung diseases.

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Lung cysts, spontaneous pneumothorax, and genetic associations in 89 families with Birt-Hogg-Dubé syndrome

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RCCM.200610-1483OC

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American Journal of Respiratory and Critical Care Medicine

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Lung cysts, spontaneous pneumo ...... s with Birt-Hogg-Dubé syndrome

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Berton Zbar

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Dao M Nguyen

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Gladys M Glenn

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Jorge R Toro

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Laura S Schmidt

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Laveta Stewart

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Lewis Davis

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Michael Weinreich

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Ming-Hui Wei

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Ousmane Toure

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P2860

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

Nonparametric Estimation from Incomplete Observations

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

Spontaneous pneumothorax and alpha 1-antitrypsin deficiency.

A 4-bp deletion in the Birt-Hogg-Dubé gene (FLCN) causes dominantly inherited spontaneous pneumothorax.

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

Birt-Hogg-Dubé syndrome, a genodermatosis associated with spontaneous pneumothorax and kidney neoplasia, maps to chromosome 17p11.2.

Smoking and the increased risk of contracting spontaneous pneumothorax.

Incidence of spontaneous pneumothorax in Olmsted County, Minnesota: 1950 to 1974.

Hereditary multiple fibrofolliculomas with trichodiscomas and acrochordons.

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