F M Pope|A C Nicholls - JoVE Visualize

Showing results (11-20 of 119) with videos related to

Pageof 12

Sort By:

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.

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.

Human Genetics|June 1, 1991

Ehlers-Danlos syndrome type VII: a single base change that causes exon skipping in the type I collagen alpha 2(I) chainA C Nicholls, J Oliver, D V Renouf, et al.

Molecular Biology & Medicine|December 1, 1988

A cysteine for glycine substitution at position 1017 in an alpha 1(I) chain of type I collagen in a patient with mild dominantly inherited osteogenesis imperfectaM E Labhard, M K Wirtz, F M Pope, et al.

Lancet (London, England)|May 2, 1981

Some patients with cerebral aneurysms are deficient in type III collagenF M Pope, A C Nicholls, P Narcisi, et al.

British Medical Journal (Clinical Research Ed.)|February 11, 1984

Lethal osteogenesis imperfecta congenita and a 300 base pair gene deletion for an alpha 1(I)-like collagenF M Pope, K S Cheah, A C Nicholls, et al.

Clinical and Experimental Dermatology|July 1, 1997

Genetic linkage to the collagen alpha 1 (V) gene (COL5A1) in two British Ehlers-Danlos syndrome families with variable type I and II phenotypesN P Burrows, A C Nicholls, J R Yates, et al.

Journal of Clinical Pathology|June 1, 1980

Osteogenesis imperfecta (lethal) bones contain types III and V collagensF M Pope, A C Nicholls, C Eggleton, et al.

Human Genetics|June 1, 1992

A single base mutation in the gene for type III collagen (COL3A1) converts glycine 847 to glutamic acid in a family with Ehlers-Danlos syndrome type IV. An unaffected family member is mosaic for the mutationA J Richards, P N Ward, P Narcisi, et al.

Journal of Medical Genetics|October 23, 1998

A single base mutation in COL5A2 causes Ehlers-Danlos syndrome type IIA J Richards, S Martin, A C Nicholls, et al.

Pageof 12

Showing results (11-20 of 119) with videos related to

Sort By:

Pageof 12

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.

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.

Human Genetics|June 1, 1991

Ehlers-Danlos syndrome type VII: a single base change that causes exon skipping in the type I collagen alpha 2(I) chainA C Nicholls, J Oliver, D V Renouf, et al.

Molecular Biology & Medicine|December 1, 1988

A cysteine for glycine substitution at position 1017 in an alpha 1(I) chain of type I collagen in a patient with mild dominantly inherited osteogenesis imperfectaM E Labhard, M K Wirtz, F M Pope, et al.

Lancet (London, England)|May 2, 1981

Some patients with cerebral aneurysms are deficient in type III collagenF M Pope, A C Nicholls, P Narcisi, et al.

British Medical Journal (Clinical Research Ed.)|February 11, 1984

Lethal osteogenesis imperfecta congenita and a 300 base pair gene deletion for an alpha 1(I)-like collagenF M Pope, K S Cheah, A C Nicholls, et al.

Clinical and Experimental Dermatology|July 1, 1997

Genetic linkage to the collagen alpha 1 (V) gene (COL5A1) in two British Ehlers-Danlos syndrome families with variable type I and II phenotypesN P Burrows, A C Nicholls, J R Yates, et al.

Journal of Clinical Pathology|June 1, 1980

Osteogenesis imperfecta (lethal) bones contain types III and V collagensF M Pope, A C Nicholls, C Eggleton, et al.

Human Genetics|June 1, 1992

A single base mutation in the gene for type III collagen (COL3A1) converts glycine 847 to glutamic acid in a family with Ehlers-Danlos syndrome type IV. An unaffected family member is mosaic for the mutationA J Richards, P N Ward, P Narcisi, et al.

Journal of Medical Genetics|October 23, 1998

A single base mutation in COL5A2 causes Ehlers-Danlos syndrome type IIA J Richards, S Martin, A C Nicholls, et al.

Pageof 12