RASA1: variable phenotype with capillary and arteriovenous malformations

This publication has 35 references indexed in Scilit:

• Search for loss of heterozygosity and mutation analysis of KRIT1 gene in CCM patients
  American Journal of Medical Genetics Part A, 2004
• Overexpression of FAK promotes Ras activity through the formation of a FAK/p120RasGAP complex in malignant astrocytoma cells
  Oncogene, 2004
• Mutations within the MGC4607 Gene Cause Cerebral Cavernous Malformations
  The American Journal of Human Genetics, 2004
• Mutations in a Gene Encoding a Novel Protein Containing a Phosphotyrosine-Binding Domain Cause Type 2 Cerebral Cavernous Malformations
  The American Journal of Human Genetics, 2003
• Autosomal dominant hereditary benign telangiectasia maps to the CMC1 locus for capillary malformation on chromosome 5q14
  Journal of Medical Genetics, 2003
• Transgenic RNA interference in ES cell–derived embryos recapitulates a genetic null phenotype
  Nature Biotechnology, 2003
• Mutations in a Novel Factor, Glomulin, Are Responsible for Glomuvenous Malformations (“Glomangiomas”)
  The American Journal of Human Genetics, 2002
• Nonsense mutations in the C–terminal SH2 region of the GTPase activating protein (GAP) gene in human tumours
  Nature Genetics, 1993
• Inhibition of GTPase Activating Protein Stimulation of Ras-p21 GTPase by the K rev -1 Gene Product
  Science, 1990
• Hemangiomas and Vascular Malformations in Infants and Children
  Plastic and Reconstructive Surgery, 1982