نتایج جستجو برای: hogg and yuzyk

تعداد نتایج: 16827365  

2016
Beau DiCicco Weilan Johnson James Allred Anthony C. Soldano William M. Ramsdell

BHD: Birt-Hogg-Dub e syndrome FLCN: folliculin mTOR: mammalian target of rapamycin TS: tuberous sclerosis complex B irt-Hogg-Dub e syndrome (BHD) is an uncommon autosomal dominant genodermatosis characterized by fibrofolliculomas and trichodiscomas on the face and neck with acrochordons in flexural areas. These skin signs serve as markers for internal disease, most importantly spontaneous pneum...

2003

Proteinuria in a single urine specimen is relatively common in children, with a reported prevalence between 1%-10% (Hogg et al 2000; K/DOQI guidelines, Guideline1, Part 4). However, persistent proteinuria is much less common, with one American study of nearly 9000 school children reporting proteinuria in 1 out of 4 samples in 10.7% of children, but proteinuria in all 4 samples in only 0.1% (Veh...

2013
André Lencastre Pedro Ponte Margarida Apetato Luis Nunes Sara Lestre

A 45-year-old woman with a history of renal carcinoma was observed for facial, cervical and truncal flesh-colored papules. Relatives had similar skin findings and a brother had repeated episodes of pneumothorax. The computerized tomography scan revealed multiple cysts on both lungs. A skin biopsy revealed a perifollicular fibroma. The clinical diagnosis of Birt-Hogg-Dubé syndrome (BHDS) was cor...

Journal: :QJM: An International Journal of Medicine 2018

Journal: :Atlas of Genetics and Cytogenetics in Oncology and Haematology 2011

Journal: :Atlas of Genetics and Cytogenetics in Oncology and Haematology 2014

2010
MARIA KNIGHT LAPINSKI Maria Knight Lapinski

Social identity theory (SIT) suggests that the social groups to which one belongs, define one's self-concept by providing the normative beliefs, atti­ tudes, and behaviors associated with group membership (Billig & Tajfel, 1973; Hogg, Terry, & White, 1995). Such affiliations, along with the value placed on those memberships, are termed social identities (Tajfel, 1978). These social identities a...

Journal: :The Lancet. Oncology 2009
Fred H Menko Maurice A M van Steensel Sophie Giraud Lennart Friis-Hansen Stéphane Richard Silvana Ungari Magnus Nordenskjöld Thomas Vo Hansen John Solly Eamonn R Maher

Birt-Hogg-Dubé syndrome (BHD) is an autosomal dominant condition characterised clinically by skin fibrofolliculomas, pulmonary cysts, spontaneous pneumothorax, and renal cancer. The condition is caused by germline mutations in the FLCN gene, which encodes folliculin; the function of this protein is largely unknown, although FLCN has been linked to the mTOR pathway. The availability of DNA-based...

Journal: :Statistical Science 2007

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