Literature DB >> 28503272

Von Hippel - Lindau disease.

Sna Muhamad Nor1, J Haron2.   

Abstract

Von Hippel-Lindau (VHL) disease is a rare autosomal dominantly inherited multisystem disorder characterised by the development of a variety of benign and malignant tumours. We report a case of VHL disease that was inherited by a daughter from her father, who both presented at a young age with progressive headache and were found to have a posterior fossa haemangioblastoma (HB) on magnetic resonance imaging (MRI). Multiple benign pancreatic and renal cysts were also noted in both patients.

Entities:  

Keywords:  Von Hippel–Lindau disease; autosomal dominant; haemangioblastoma

Year:  2017        PMID: 28503272      PMCID: PMC5420321     

Source DB:  PubMed          Journal:  Malays Fam Physician        ISSN: 1985-2274


  10 in total

1.  LINDAU'S DISEASE. REVIEW OF THE LITERATURE AND STUDY OF A LARGE KINDRED.

Authors:  K L MELMON; S W ROSEN
Journal:  Am J Med       Date:  1964-04       Impact factor: 4.965

2.  Specific genetic change in tumors associated with von Hippel-Lindau disease.

Authors:  K Tory; H Brauch; M Linehan; D Barba; E Oldfield; M Filling-Katz; B Seizinger; Y Nakamura; R White; F F Marshall
Journal:  J Natl Cancer Inst       Date:  1989-07-19       Impact factor: 13.506

3.  Pancreatic involvement in von Hippel-Lindau disease. The Groupe Francophone d'Etude de la Maladie de von Hippel-Lindau.

Authors:  P R Hammel; V Vilgrain; B Terris; A Penfornis; A Sauvanet; J M Correas; D Chauveau; A Balian; C Beigelman; D O'Toole; P Bernades; P Ruszniewski; S Richard
Journal:  Gastroenterology       Date:  2000-10       Impact factor: 22.682

4.  Pancreatic lesions in von Hippel-Lindau disease: prevalence, clinical significance, and CT findings.

Authors:  D M Hough; D H Stephens; C D Johnson; L A Binkovitz
Journal:  AJR Am J Roentgenol       Date:  1994-05       Impact factor: 3.959

5.  Molecular analysis of de novo germline mutations in the von Hippel-Lindau disease gene.

Authors:  F M Richards; S J Payne; B Zbar; N A Affara; M A Ferguson-Smith; E R Maher
Journal:  Hum Mol Genet       Date:  1995-11       Impact factor: 6.150

Review 6.  Von Hippel-Lindau disease: new strategies in early detection and treatment.

Authors:  N Karsdorp; A Elderson; D Wittebol-Post; R J Hené; J Vos; M A Feldberg; A P van Gils; J M Jansen-Schillhorn van Veen; T M Vroom; J W Höppener
Journal:  Am J Med       Date:  1994-08       Impact factor: 4.965

7.  Central nervous system involvement in Von Hippel-Lindau disease.

Authors:  M R Filling-Katz; P L Choyke; E Oldfield; L Charnas; N J Patronas; G M Glenn; M B Gorin; J K Morgan; W M Linehan; B R Seizinger
Journal:  Neurology       Date:  1991-01       Impact factor: 9.910

8.  Von Hippel-Lindau disease: a genetic study.

Authors:  E R Maher; L Iselius; J R Yates; M Littler; C Benjamin; R Harris; J Sampson; A Williams; M A Ferguson-Smith; N Morton
Journal:  J Med Genet       Date:  1991-07       Impact factor: 6.318

Review 9.  Von Hippel-Lindau (VHL) disease: an update on the clinico-pathologic and genetic aspects.

Authors:  Bahig M Shehata; Christina A Stockwell; Amilcar A Castellano-Sanchez; Shannon Setzer; Christine L Schmotzer; Haynes Robinson
Journal:  Adv Anat Pathol       Date:  2008-05       Impact factor: 3.875

Review 10.  von Hippel-Lindau disease: genetic, clinical, and imaging features.

Authors:  P L Choyke; G M Glenn; M M Walther; N J Patronas; W M Linehan; B Zbar
Journal:  Radiology       Date:  1995-03       Impact factor: 11.105

  10 in total

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