✦ LIBER ✦

Birt–Hogg–Dubé syndrome in a patient with localized fibrofolliculomas and a novel mutation in the FLCN gene

✍ Scribed by Julio Alonso-González; Laura Rodríguez-Pazos; Virginia Fernández-Redondo; Ana Vega-Gliemmo; Jaime Toribio

Book ID: 110879455
Publisher: John Wiley and Sons
Year: 2011
Tongue: English
Weight: 318 KB
Volume: 50
Category: Article
ISSN: 0011-9059
DOI: 10.1111/j.1365-4632.2010.04854.x

No coin nor oath required. For personal study only.

📜 SIMILAR VOLUMES

Constitutional FLCN mutations in patient

Constitutional FLCN mutations in patients with suspected Birt–Hogg–Dubé syndrome ascertained for non-cutaneous manifestations

✍ A Maffé; B Toschi; G Circo; D Giachino; S Giglio; A Rizzo; A Carloni; V Poletti; 📂 Article 📅 2011 🏛 John Wiley and Sons 🌐 English ⚖ 600 KB

Birt–Hogg–Dubé syndrome with clear-cell

Birt–Hogg–Dubé syndrome with clear-cell and oncocytic renal tumour and trichoblastoma associated with a novel FLCN mutation

✍ K. Imada; T. Dainichi; A. Yokomizo; T. Tsunoda; Y.H. Song; A. Nagasaki; D. Sawam 📂 Article 📅 2009 🏛 John Wiley and Sons 🌐 English ⚖ 879 KB

Novel Mutations in the BHD Gene and Abse

Novel Mutations in the BHD Gene and Absence of Loss of Heterozygosity in Fibrofolliculomas of Birt-Hogg-Dubé Patients

✍ van Steensel, Maurice A M; Verstraeten, Valerie L R M; Frank, Jorge; Kelleners-S 📂 Article 📅 2007 🏛 Nature Publishing Group 🌐 English ⚖ 212 KB

Identification of intragenic deletions a

Identification of intragenic deletions and duplication in the FLCN gene in Birt-Hogg-Dubé syndrome

✍ Jihane N. Benhammou; Cathy D. Vocke; Avni Santani; Laura S. Schmidt; Masaya Baba 📂 Article 📅 2011 🏛 John Wiley and Sons 🌐 English ⚖ 408 KB 👁 1 views

## Abstract Birt‐Hogg‐Dubé syndrome (BHDS), caused by germline mutations in the folliculin (__FLCN__) gene, predisposes individuals to develop fibrofolliculomas, pulmonary cysts, spontaneous pneumothoraces, and kidney cancer. The __FLCN__ mutation detection rate by bidirectional DNA sequencing in t

Presence of both facial angiofibromas an

Presence of both facial angiofibromas and fibrofolliculomas in two patients with Birt-Hogg-Dubé syndrome

📂 Article 📅 2012 🏛 Elsevier Science 🌐 English ⚖ 44 KB

A novel familial germline mutation in th

A novel familial germline mutation in the initiator codon of the BHD gene in a patient with Birt–Hogg–Dubé syndrome

✍ D. Bessis; S. Giraud; S. Richard 📂 Article 📅 2006 🏛 John Wiley and Sons 🌐 English ⚖ 164 KB