Birt–Hogg–Dubé syndrome
Adult-Type Rhabdomyoma of the Larynx in Birt-Hogg-Dubé Syndrome: Evidence for a Real Association
... dominant Birt–Hogg–Dubé syndrome is known to be associated with skin, lung and kidney ...with Birt–Hogg–Dubé syndrome who presented with a laryngeal ...with ...
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Spontaneous pneumothorax as indicator for Birt-Hogg-Dubé syndrome in paediatric patients
... van Spaendonck-Zwarts KY, Leter EM, van Os TA, van Grieken NC, Jaspars EH, de Jong MM, Bongers EM, Johannesma PC, Postmus PE, van Moorselaar RJ, van Waesberghe JH, Starink TM, van Steensel MA, Gille JJ, Menko FH: Renal ...
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Splice-site mutation causing partial retention of intron in the FLCN gene in Birt-Hogg-Dubé syndrome: a case report
... Background: Birt-Hogg-Dubé syndrome (BHD) is an autosomal dominant disorder caused by germline mutations in the folliculin gene ( FLCN ...
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A total pleural covering of absorbable cellulose mesh prevents pneumothorax recurrence in patients with Birt-Hogg-Dubé syndrome
... Background: Birt-Hogg-Dubé syndrome (BHDS) is a recently recognized inherited multiple cystic lung disease causing recurrent pneumothoraces. Similarly to the lesions in patients with ...
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Birt–Hogg–Dubé syndrome: a literature review and case study of a Chinese woman presenting a novel FLCN mutation
... The Birt – Hogg – Dubé (BHD) syndrome is a very rare autosomal dominant form of genodermatosis caused by germline mutations in the folliculin ( FLCN ) gene, which is mapped to the ...
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Bilateral Renal Tumour as Indicator for Birt-Hogg-Dubé Syndrome
... haematuria, or weight loss. His medical and social history were unremarkable; he never smoked. His father had been treated for colorectal cancer; his mother had three episodes of spontaneous pneumothorax and had been ...
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A rapid NGS strategy for comprehensive molecular diagnosis of Birt-Hogg-Dubé syndrome in patients with primary spontaneous pneumothorax
... BHD syndrome is an autosomal dominant disease char- acterized by skin fibrofolliculomas, renal cancer, pulmon- ary cysts and spontaneous pneumothorax ...the syndrome is considered to be under-diagnosed ...
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Staged, Open, No-Ischemia Nephron-Sparing Surgery for Bilateral-Multiple Kidney Tumors in a Patient with Birt-Hogg-Dubé Syndrome
... techniques. Birt-Hogg-Dub´e Syndrome (BHDS) is an autosomal dominant genodermatosis characterized by a triad of benign skin tumors (fibrofolliculomas, trichodiscomas, acrochordons) together with an ...
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Clinical and genetic characteristics of chinese patients with Birt-Hogg-Dubé syndrome
... BHD syndrome are less prevalent in China than they are in Europe and ...BHD syndrome pub- lished in 2016 included 312 patients from 120 different families and identified 31 FLCN sequence variants; two ...
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Birt-Hogg-Dubé syndrome: a large single family cohort
... Genetic assessment and confirmation of BHD syndrome Genetic testing was performed using the same standardized assay and equipment in the Alberta Children’s Hospital Molecular Diagnostics Laboratory. Initial ...
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Birt-Hogg-Dubé renal tumors are genetically distinct from other renal neoplasias and are associated with up-regulation of mitochondrial gene expression
... and Birt-Hogg-Dubé syndrome (BHDS) ...[10]. Birt- Hogg-Dubé syndrome is an extremely rare syndrome- approximately 200 families have been described as having ...
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Birt-Hogg-Dub Syndrome: CT Findings of an Under Recognized Disease Requiring Multidisciplinary Approach
... Birt-Hogg-Dubé syndrome (BHDS) is an autosomal dominant genodermatosis caused by mutations in the FLCN gene, located on the 17p11.2 region (1). BHDS is a systemic disorder characterized by ...
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Renal cell tumour characteristics in patients with the Birt-Hogg-Dubé cancer susceptibility syndrome: a retrospective, multicentre study
... a syndrome in which renal cell tumour risk is increased, and others are healthy relatives of individuals with an established genetic ...(PGL4 syndrome), and MET (Hereditary Papillary RCC) ...
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Conservatism, imperialism and appeasement: the political career of Douglas Hogg, first Viscount Hailsham 1922-38
... 47 simple: ‘the way to secure peace at home and abroad, to stamp out class hatred, and to cement the Empire closer than before’, was to vote Conservative. Constructive assertions went hand in hand with his anti-socialist ...
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Police and Crime Commissioners : emerging 'drug policy actors'?
... surprisingly Hogg added, "that he did not see it as a "step towards decriminalisation" of the drug - that was a national debate which he would ...
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Social Entrepreneurship, An International Perspective
... Hibbert, Hogg and Quinn [8] on the other hand, regard it as “the use of entrepreneurial behavior for social ends rather than for profit objectives, or alternatively, that the profits generated are used for the ...
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An unexpected journey: the biogeography and conservation ecology of the trapdoor spider genus Cantuaria Hogg, 1902
... Cambridge 1883, a Californian trapdoor spider species, were shown to have been separated by the Central Valley 2-3 mya. Despite A. riversi’s lack of dispersal ability, the populations appear to have become temporarily ...
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Inactivation of a Foodborne Norovirus Outbreak Strain with Nonthermal Atmospheric Pressure Plasma
... Inactivation of a Foodborne Norovirus Outbreak Strain with Nonthermal Atmospheric Pressure Plasma Inactivation of a Foodborne Norovirus Outbreak Strain with Nonthermal Atmospheric Pressure Plasma Birt[.] ...
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From Gluttony to Justified Sinning: Confessional Writing in Blackwood’s and the London Magazine
... (245). Its positive consequence was the intoxicating textual play, both within and between magazines, that makes post-Napoleonic literary culture so fascinating. But Hogg was also aware of its negative side, ...
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Wolf, Miriam (2012): Acute and long-term effects of chronic social stress on cognition: the role of synaptic cell adhesion molecules. Dissertation, LMU München: Fakultät für Biologie
... metabolic syndrome, especially in western societies. Metabolic syndrome includes a cluster of symptoms (amongst others central obesity and hypertension) that in turn increase the risk for cardiovascular ...
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