Genotype–phenotype correlations in von Hippel‐Lindau disease

KR Ong, ER Woodward, P Killick, C Lim… - Human …, 2007 - Wiley Online Library
Abstract von Hippel‐Lindau (VHL) disease is a dominantly inherited familial cancer
syndrome resulting from mutations in the VHL tumor suppressor gene. VHL disease displays …

Intravitreal anti-vascular endothelial growth factor therapy with pegaptanib for advanced von Hippel-Lindau disease of the retina

SS Dahr, M Cusick, H Rodriguez-Coleman… - Retina, 2007 - journals.lww.com
Objective: This pilot study was designed to provide preliminary data concerning the safety
and efficacy of pegylated anti-vascular endothelial growth factor (VEGF) therapy …

Genotype-phenotype correlation in von Hippel-Lindau disease with retinal angiomatosis

WT Wong, E Agrón, HR Coleman… - Archives of …, 2007 - jamanetwork.com
Objectives To characterize the germline mutations found in a large population of persons
having von Hippel-Lindau (VHL) disease mutations with the clinical characteristics of …

Inherited cancer susceptibility syndromes in paediatric practice

M Field, S Shanley, J Kirk - Journal of paediatrics and child …, 2007 - Wiley Online Library
Over the last decade there have been rapid advances in our knowledge about the molecular
basis of many inherited disorders. Molecular testing is now available for many conditions …

VHL mutation analysis in patients with isolated central nervous system haemangioblastoma

ER Woodward, K Wall, J Forsyth, F Macdonald… - Brain, 2007 - academic.oup.com
Haemangioblastomas of the CNS are a cardinal feature of von Hippel–Lindau (VHL)
disease, a dominantly inherited multisystem familial cancer syndrome caused by germline …

Genetics and biology of pheochromocytoma

M Mannelli, L Simi, MS Gagliano… - Experimental and …, 2007 - thieme-connect.com
The familial forms of pheochromocytoma have recently been demonstrated to be more
frequent than believed in the past. The genes currently known to be responsible for tumor …

[HTML][HTML] Spinal cord hemangioblastoma: diagnosis and clinical outcome after surgical treatment

JH Na, HS Kim, W Eoh, JH Kim, JS Kim… - Journal of Korean …, 2007 - ncbi.nlm.nih.gov
Objective Spinal cord hemangioblastoma is an uncommon vascular neoplasm with a benign
nature and is associated with von Hippel-Lindau (VHL) disease in 20-30% of patients. Total …

Frequency of Von Hippel‐Lindau germline mutations in classic and non‐classic Von Hippel‐Lindau disease identified by DNA sequencing, Southern blot analysis and …

FJ Hes, RB Van Der Luijt, ALW Janssen… - Clinical …, 2007 - Wiley Online Library
The current clinical diagnosis of Von Hippel‐Lindau (VHL) disease demands at least one
specific a sporadic VHL manifestation in a patient with familial VHL disease, or, in asporadic …

Loss of the actin regulator HSPC300 results in clear cell renal cell carcinoma protection in Von Hippel‐Lindau patients

A Cascón, B Escobar, C Montero‐Conde… - Human …, 2007 - Wiley Online Library
Clear cell renal cell carcinoma (ccRCC) is the most common malignant neoplasm of the
kidney. The majority of hereditary and sporadic ccRCC cases are associated with germline …

Local recurrence after nephron-sparing surgery in von Hippel-Lindau disease

G Ploussard, S Droupy, S Ferlicot, R Ples, L Rocher… - Urology, 2007 - Elsevier
OBJECTIVES: To evaluate the risks of local recurrence and repeat surgery after nephron-
sparing surgery (NSS) in von Hippel-Lindau (VHL) disease to propose a therapeutic strategy …