Legius, Eric,
RAS pathway and disease neurofibromatosis and beyond / [electronic resource] : Eric Legius. - London : Henry Stewart Talks, 2014. - 1 online resource (1 streaming video file (45 min.) : color, sound). - Molecular genetics of human disease, 2056-452X . - Henry Stewart talks. Biomedical & life sciences collection. Molecular genetics of human disease. .
Animated audio-visual presentation with synchronized narration. Title from title frames.
Contents: Neurofibromatosis type 1 (NF1) -- NIH diagnostic criteria (Seven criteria for NF1) -- NF1 and the RAS pathway -- NF1 tumour biology -- Neurofibromin deficiency -- Two types of neurofibromas -- Plexiform neurofibroma in the neck and mouth -- Mechanisms of disease -- Mouse models of neurofibroma formation -- Imatinib mesylate treatment -- Clinical aspects of glomus tumours of fingertips -- Gastrointestinal stromal tumours -- MPNST in NF1 -- FDG-PET as a diagnostic tool -- Hotspots for recombination & NF1 microdeletion -- SUZ12-loss -- Cafe-au-lait (CAL) macules -- Skeletal defects in NF1 -- Learning disabilities in NF1 -- Simvastatin treatment for cognitive deficits -- Mosaicism for NF1 mutation -- Diagnostic problems -- SPRED1 mutations & molecular mechanism of Legius syndrome -- The RAS pathway proteins & genetic syndromes (RASopathies).
Access restricted to subscribers.
Mode of access: World Wide Web.
3814 Henry Stewart Talks
Neurofibromatosis.
Ras proteins.
Cafe-au-Lait Spots--genetics.
Genetic Diseases, Inborn--genetics.
Genetic Diseases, Inborn--physiopathology.
Neurofibroma, Plexiform.
Neurofibromatoses.
Neurofibromatosis 1.
ras Proteins--genetics.
ras Proteins--metabolism.
RAS pathway and disease neurofibromatosis and beyond / [electronic resource] : Eric Legius. - London : Henry Stewart Talks, 2014. - 1 online resource (1 streaming video file (45 min.) : color, sound). - Molecular genetics of human disease, 2056-452X . - Henry Stewart talks. Biomedical & life sciences collection. Molecular genetics of human disease. .
Animated audio-visual presentation with synchronized narration. Title from title frames.
Contents: Neurofibromatosis type 1 (NF1) -- NIH diagnostic criteria (Seven criteria for NF1) -- NF1 and the RAS pathway -- NF1 tumour biology -- Neurofibromin deficiency -- Two types of neurofibromas -- Plexiform neurofibroma in the neck and mouth -- Mechanisms of disease -- Mouse models of neurofibroma formation -- Imatinib mesylate treatment -- Clinical aspects of glomus tumours of fingertips -- Gastrointestinal stromal tumours -- MPNST in NF1 -- FDG-PET as a diagnostic tool -- Hotspots for recombination & NF1 microdeletion -- SUZ12-loss -- Cafe-au-lait (CAL) macules -- Skeletal defects in NF1 -- Learning disabilities in NF1 -- Simvastatin treatment for cognitive deficits -- Mosaicism for NF1 mutation -- Diagnostic problems -- SPRED1 mutations & molecular mechanism of Legius syndrome -- The RAS pathway proteins & genetic syndromes (RASopathies).
Access restricted to subscribers.
Mode of access: World Wide Web.
3814 Henry Stewart Talks
Neurofibromatosis.
Ras proteins.
Cafe-au-Lait Spots--genetics.
Genetic Diseases, Inborn--genetics.
Genetic Diseases, Inborn--physiopathology.
Neurofibroma, Plexiform.
Neurofibromatoses.
Neurofibromatosis 1.
ras Proteins--genetics.
ras Proteins--metabolism.