✦ LIBER ✦

A new germline VHL gene mutation in three patients with apparently sporadic pheochromocytoma

✍ Scribed by D'Elia, Angela V.; Grimaldi, Franco; Pizzolitto, Stefano; De Maglio, Giovanna; Bregant, Elisa; Passon, Nadia; Franzoni, Alessandra; Verrienti, Antonella; Tamburrano, Giulia; Durante, Cosimo; Filetti, Sebastiano; Fogolari, Federico; Russo, Diego; Damante, Giuseppe

Book ID: 119827344
Publisher: John Wiley and Sons
Year: 2013
Tongue: English
Weight: 426 KB
Volume: 78
Category: Article
ISSN: 0300-0664
DOI: 10.1111/cen.12032

No coin nor oath required. For personal study only.

📜 SIMILAR VOLUMES

A specific germline mutation in the VHL

A specific germline mutation in the VHL tumor suppressor gene correlates with pheochromocytoma

✍ H. Brauch; T. Kishida; D. Glavac; F. Pausch; B. Zbar; M.I. Lerman; H. Höfler; H. 📂 Article 📅 1995 🏛 Elsevier Science 🌐 English ⚖ 161 KB

Germline mutations in the vhl gene in pa

Germline mutations in the vhl gene in patients presenting with phaeochromocytomas

✍ E. van der Harst; R. R. de Krijger; W. N. M. Dinjens; L. E. Weeks; H. J. Bonjer; 📂 Article 📅 1998 🏛 John Wiley and Sons 🌐 French ⚖ 110 KB 👁 2 views

It has been shown that an appreciable percentage of patients presenting with primary, apparently sporadic phaeochromocytomas may in fact have von-Hippel-Lindau (VHL) disease. In order to investigate this, we retrospectively screened 68 patients, who had been operated on for phaeochromocytomas, for t

Identical germline mutations in the TMEM

Identical germline mutations in the TMEM127 gene in two unrelated Japanese patients with bilateral pheochromocytoma

✍ Naomi Takeichi; Sanae Midorikawa; Atsushi Watanabe; Banyar Than Naing; Hideki Ta 📂 Article 📅 2012 🏛 John Wiley and Sons 🌐 English ⚖ 365 KB

Prevalence of Germline Mutations in Pati

Prevalence of Germline Mutations in Patients with Pheochromocytoma or Abdominal Paraganglioma and Sporadic Presentation: A Population-Based Study in Western Sweden

✍ Muth, Andreas; Abel, Frida; Jansson, Svante; Nilsson, Ola; Ahlman, Håkan; Wängbe 📂 Article 📅 2012 🏛 Springer 🌐 English ⚖ 238 KB

Germline Mutation of von Hippel–Lindau (

Germline Mutation of von Hippel–Lindau (VHL) Gene 695 G>A (R161Q) in a Patient with a Peculiar Phenotype with Type 2C VHL Syndrome

✍ LIBERO SANTARPIA; DANIELA LAPA; SALVATORE BENVENGA 📂 Article 📅 2006 🏛 John Wiley and Sons 🌐 English ⚖ 126 KB

Low frequency of germline mutations in t

Low frequency of germline mutations in the RET proto-oncogene in patients with apparently sporadic medullary thyroid carcinoma

✍ Charls Eng; Lois M. Mulligan; Darrin P. Smith; Catherine S. Healey; Andrea Frill 📂 Article 📅 1995 🏛 John Wiley and Sons 🌐 English ⚖ 451 KB