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Journal of Medical Genetics|May 1, 1993
A T+6 to C+6 mutation in the donor splice site of COL3A1 IVS7 causes exon skipping and results in Ehlers-Danlos syndrome type IVJ Lloyd, P Narcisi, A Richards, et al.The British Journal of Dermatology|January 1, 1988
Detection of type III collagen in skin fibroblasts from patients with Ehlers-Danlos syndrome type IV by immunofluorescenceA S Temple, P Hinton, P Narcisi, et al.Journal of Medical Genetics|August 1, 1993
The substitution of glycine 661 by arginine in type III collagen produces mutant molecules with different thermal stabilities and causes Ehlers-Danlos syndrome type IVA Richards, P Narcisi, J Lloyd, et al.Human Molecular Genetics|September 1, 1994
A family with Ehlers-Danlos syndrome type III/articular hypermobility syndrome has a glycine 637 to serine substitution in type III collagenP Narcisi, A J Richards, S D Ferguson, et al.The British Journal of Dermatology|September 1, 1984
Ehlers-Danlos syndrome type IV mimicking non-accidental injury in a childD L Roberts, F M Pope, A C Nicholls, et al.Archives of Disease in Childhood|September 1, 1988
Clinical presentations of Ehlers Danlos syndrome type IVF M Pope, P Narcisi, A C Nicholls, et al.Journal of Neurosurgery|July 1, 1983
Collagen deficiency and ruptured cerebral aneurysms. A clinical and biochemical studyG Neil-Dwyer, J R Bartlett, A C Nicholls, et al.Journal of Inherited Metabolic Disease|January 1, 1989
Prenatal diagnosis and prevention of inherited abnormalities of collagenF M Pope, S C Daw, P Narcisi, et al.Acta Neurologica Belgica|February 20, 2002
Disappearance of central pain following iatrogenic strokeS Canavero, V Bonicalzi, M Lacerenza, et al.The British Journal of Dermatology|August 1, 1996
COL3A1 mutations cause variable clinical phenotypes including acrogeria and vascular ruptureF M Pope, P Narcisi, A C Nicholls, et al.Pageof 3