A Point Mutation in an Intronic Branch Site Results in Aberrant Splicing of COL5A1 and in Ehlers-Danlos Syndrome Type II in Two British Families
Burrows, Nigel P., Nicholls, Alan C., Richards, Allan J., Luccarini, Craig, Harrison, J. Barrie, Yates, John R.W., Pope, F. Michael
Published in American journal of human genetics (01.08.1998)
Published in American journal of human genetics (01.08.1998)
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A single base mutation in COL5A2 causes Ehlers-Danlos syndrome type II
Richards, A J, Martin, S, Nicholls, A C, Harrison, J B, Pope, F M, Burrows, N P
Published in Journal of medical genetics (01.10.1998)
Published in Journal of medical genetics (01.10.1998)
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Journal Article
An exon skipping mutation of a type V collagen gene (COL5A1) in Ehlers-Danlos syndrome
Nicholls, A C, Oliver, J E, McCarron, S, Harrison, J B, Greenspan, D S, Pope, F M
Published in Journal of medical genetics (01.11.1996)
Published in Journal of medical genetics (01.11.1996)
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The molecular defect in a family with mild atypical osteogenesis imperfecta and extreme joint hypermobility: exon skipping caused by an 11-bp deletion from an intron in one COL1A2 allele
Nicholls, A C, Oliver, J, Renouf, D V, Heath, D A, Pope, F M
Published in Human genetics (01.03.1992)
Published in Human genetics (01.03.1992)
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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 mutation
Richards, A J, Ward, P N, Narcisi, P, Nicholls, A C, Lloyd, J C, Pope, F M
Published in Human genetics (01.06.1992)
Published in Human genetics (01.06.1992)
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Clinical presentations of Ehlers Danlos syndrome type IV
Pope, F M, Narcisi, P, Nicholls, A C, Liberman, M, Oorthuys, J W
Published in Archives of disease in childhood (01.09.1988)
Published in Archives of disease in childhood (01.09.1988)
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Linkage of a polymorphic marker for the type III collagen gene (COL3A1) to atypical autosomal dominant Ehlers-Danlos syndrome type IV in a large Belgian pedigree
Nicholls, A C, De Paepe, A, Narcisi, P, Dalgleish, R, De Keyser, F, Matton, M, Pope, F M
Published in Human genetics (01.03.1988)
Published in Human genetics (01.03.1988)
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Spontaneous carotid cavernous fistula in Ehlers Danlos syndrome
Fox, R, Pope, F M, Narcisi, P, Nicholls, A C, Kendall, B E, Hourihan, M D, Compston, D A
Published in Journal of neurology, neurosurgery and psychiatry (01.07.1988)
Published in Journal of neurology, neurosurgery and psychiatry (01.07.1988)
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Clinical features of an affected father and daughter with Ehlers-Danlos syndrome type VIIB
Pope, F M, Nicholls, A C, Palan, A, Kwee, M L, De Groot, W P, Hausmann, R
Published in British journal of dermatology (1951) (01.01.1992)
Published in British journal of dermatology (1951) (01.01.1992)
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Collagen genes and proteins in osteogenesis imperfecta
Pope, F M, Nicholls, A C, McPheat, J, Talmud, P, Owen, R
Published in Journal of medical genetics (01.12.1985)
Published in Journal of medical genetics (01.12.1985)
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Collagen deficiency and ruptured cerebral aneurysms. A clinical and biochemical study
Neil-Dwyer, G, Bartlett, J R, Nicholls, A C, Narcisi, P, Pope, F M
Published in Journal of neurosurgery (01.07.1983)
Published in Journal of neurosurgery (01.07.1983)
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Type III collagen mutations in Ehlers Danlos syndrome type IV and other related disorders
Pope, F M, Nicholls, A C, Narcisi, P, Temple, A, Chia, Y, Fryer, P, De Paepe, A, De Groote, W P, McEwan, J R, Compston, D A
Published in Clinical and experimental dermatology (01.09.1988)
Published in Clinical and experimental dermatology (01.09.1988)
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Clinical phenotypes and molecular characterisation of three patients with Ehlers-Danlos syndrome type VII
NICHOLLS, A C, SHER, J L, WRIGHT, M J, OLEY, C, MUELLER, R F, POPE, F M
Published in Journal of medical genetics (01.11.2000)
Published in Journal of medical genetics (01.11.2000)
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The clinical features of homozygous alpha 2(I) collagen deficient osteogenesis imperfecta
Nicholls, A C, Osse, G, Schloon, H G, Lenard, H G, Deak, S, Myers, J C, Prockop, D J, Weigel, W R, Fryer, P, Pope, F M
Published in Journal of medical genetics (01.08.1984)
Published in Journal of medical genetics (01.08.1984)
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