FIND

researchers

DISCOVER

relevant articles

PROMOTE

your research

now for free

Michael Pope

Research Profile

Disorders

Chemicals & Drugs

Concepts & Ideas

Physiology

Procedures

Genes & Molecular Sequences

Amino Acid Sequences

Anatomy

Skin

Co-author Network

Publications

TOP 3
C Tysoe; J Saunders; L White; N Hills; M Nicol; G Evans; T Cole; S Chapman; F Michael Pope
A glycine to aspartic acid substitution of COL2A1 in a family with the Strudwick variant of spondyloepimetaphyseal dysplasia.
Allan J Richards; J Morgan; P W P Bearcroft; E Pickering; Michael J Owen; P Holmans; N Williams; C Tysoe; F Michael Pope; Martin P Snead; H Hughes
Vitreoretinopathy with phalangeal epiphyseal dysplasia, a type II collagenopathy resulting from a novel mutation in the C-propeptide region of the molecule.
Richard M Sheard; F Michael Pope; Martin P Snead
A novel ophthalmic presentation of the Proteus syndrome.

Register for free to view:

Visualized networks:

See your personal network in
sophisticated graphical views

GeoTargeted Searches:

Locate experts around the world
and connect with global collaborators

Research Profiles:

See the research activity
of experts around the globe

Geonetwork of Michael Pope (preview)

Cities where this author has publications
Cities where co-authors of this author have publications

Flash Player Required

All Publications

2003: C Tysoe; J Saunders; L White; N Hills; M Nicol; G Evans; T Cole; S Chapman; F Michael Pope
A glycine to aspartic acid substitution of COL2A1 in a family with the Strudwick variant of spondyloepimetaphyseal dysplasia.
QJM : monthly journal of the Association of Physicians 2003;96(9):663-71.
2002: Allan J Richards; J Morgan; P W P Bearcroft; E Pickering; Michael J Owen; P Holmans; N Williams; C Tysoe; F Michael Pope; Martin P Snead; H Hughes
Vitreoretinopathy with phalangeal epiphyseal dysplasia, a type II collagenopathy resulting from a novel mutation in the C-propeptide region of the molecule.
Journal of medical genetics 2002;39(9):661-5.
2002: Richard M Sheard; F Michael Pope; Martin P Snead
A novel ophthalmic presentation of the Proteus syndrome.
Ophthalmology 2002;109(6):1192-5.
2001: Rohan K Mehta; Nigel P Burrows; Claire M Payne; S S Mendelsohn; F Michael Pope; Edward Rytina
Elastosis perforans serpiginosa and associated disorders.
Clinical and experimental dermatology 2001;26(6):521-4.
2001: Sarah L Woodrow; F Michael Pope; SE Handfield-Jones
The Buschke-Ollendorff syndrome presenting as familial elastic tissue naevi.
The British journal of dermatology 2001;144(4):890-3.
2001: AC Nicholls; D Valler; S Wallis; F Michael Pope
Homozygosity for a splice site mutation of the COL1A2 gene yields a non-functional pro(alpha)2(I) chain and an EDS/OI clinical phenotype.
Journal of medical genetics 2001;38(2):132-6.
2000: AC Nicholls; J L Sher; M J Wright; C Oley; R F Mueller; F Michael Pope
Clinical phenotypes and molecular characterisation of three patients with Ehlers-Danlos syndrome type VII.
Journal of medical genetics 2000;37(11):E33.
2000: Allan J Richards; S Martin; J R W Yates; John D Scott; David M Baguley; F Michael Pope; Martin P Snead
COL2A1 exon 2 mutations: relevance to the Stickler and Wagner syndromes.
The British journal of ophthalmology 2000;84(4):364-71.
1998: Allan J Richards; S Martin; AC Nicholls; JB Harrison; F Michael Pope; Nigel P Burrows
A single base mutation in COL5A2 causes Ehlers-Danlos syndrome type II.
Journal of medical genetics 1998;35(10):846-8.
1998: Nigel P Burrows; AC Nicholls; Allan J Richards; Craig Luccarini; JB Harrison; J R W Yates; F Michael Pope
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.
American journal of human genetics 1998;63(2):390-8.
1998: Nigel P Burrows; B E Monk; JB Harrison; F Michael Pope
Giant bladder diverticulum in Ehlers-Danlos syndrome type I causing outflow obstruction.
Clinical and experimental dermatology 1998;23(3):109-12.
1997: A Richards; Craig Luccarini; F Michael Pope
The structural organisation of LAMA4, the gene encoding laminin alpha4.
European journal of biochemistry / FEBS 1997;248(1):15-23.
1997: Nigel P Burrows; AC Nicholls; J R W Yates; Allan J Richards; F Michael Pope
Genetic linkage to the collagen alpha 1 (V) gene (COL5A1) in two British Ehlers-Danlos syndrome families with variable type I and II phenotypes.
Clinical and experimental dermatology 1997;22(4):174-6.
1997: F Michael Pope; Nigel P Burrows
Ehlers-Danlos syndrome has varied molecular mechanisms.
Journal of medical genetics 1997;34(5):400-10.
1996: AC Nicholls; J E Oliver; S McCarron; JB Harrison; D S Greenspan; F Michael Pope
An exon skipping mutation of a type V collagen gene (COL5A1) in Ehlers-Danlos syndrome.
Journal of medical genetics 1996;33(11):940-6.
1996: Allan J Richards; J R W Yates; R Williams; S J Payne; F Michael Pope; John D Scott; Martin P Snead
A family with Stickler syndrome type 2 has a mutation in the COL11A1 gene resulting in the substitution of glycine 97 by valine in alpha 1 (XI) collagen.
Human molecular genetics 1996;5(9):1339-43.
1996: F Michael Pope; P Narcisi; AC Nicholls; D Germaine; G Pals; Allan J Richards
COL3A1 mutations cause variable clinical phenotypes including acrogeria and vascular rupture.
The British journal of dermatology 1996;135(2):163-81.
1996: M G Dunnill; J A McGrath; Allan J Richards; A M Christiano; J Uitto; F Michael Pope; Robin A J Eady
Clinicopathological correlations of compound heterozygous COL7A1 mutations in recessive dystrophic epidermolysis bullosa.
The Journal of investigative dermatology 1996;107(2):171-7.
1996: Martin P Snead; J R W Yates; R Williams; S J Payne; F Michael Pope; J D Scott
Stickler syndrome type 2 and linkage to the COL11A1 gene.
Annals of the New York Academy of Sciences 1996;785():331-2.
1996: Nigel P Burrows; AC Nicholls; J R W Yates; G Gatward; P Sarathachandra; A Richards; F Michael Pope
The gene encoding collagen alpha1(V)(COL5A1) is linked to mixed Ehlers-Danlos syndrome type I/II.
The Journal of investigative dermatology 1996;106(6):1273-6.
1996: J A McGrath; M G Dunnill; Angela M Christiano; B D Lake; D J Atherton; C H Rodeck; F Michael Pope; Robin A J Eady; Jouni Uitto
First trimester DNA-based exclusion of recessive dystrophic epidermolysis bullosa from chorionic villus sampling.
The British journal of dermatology 1996;134(4):734-9.
1996: AC Nicholls; J Oliver; S McCarron; G B Winter; F Michael Pope
Splice site mutation causing deletion of exon 21 sequences from the pro alpha 2(I) chain of type I collagen in a patient with severe dentinogenesis imperfecta but very mild osteogenesis imperfecta.
Human mutation 1996;7(3):219-27.
1996: J E Oliver; E M Thompson; F Michael Pope; AC Nicholls
Mutation in the carboxy-terminal propeptide of the Pro alpha 1(I) chain of type I collagen in a child with severe osteogenesis imperfecta (OI type III): possible implications for protein folding.
Human mutation 1996;7(4):318-26.
1995: MG Dunnill; C H Rodeck; Allan J Richards; D Atherton; B D Lake; M Petrou; Robin A J Eady; F Michael Pope
Use of type VII collagen gene (COL7A1) markers in prenatal diagnosis of recessive dystrophic epidermolysis bullosa.
Journal of medical genetics 1995;32(9):749-50.
1995: P H Johnson; Allan J Richards; J C Lloyd; F Michael Pope; David A Hopkinson
Efficient strategy for the detection of mutations in acrogeric Ehlers-Danlos syndrome type IV.
Human mutation 1995;6(4):336-42.
1994: Allan J Richards; P Narcisi; C Ferguson; J M Cobben; F Michael Pope
Two new mutations affecting the donor splice site of COL3A1 IVS37 and causing skipping of exon 37 in patients with Ehlers-Danlos syndrome type IV.
Human molecular genetics 1994;3(10):1901-2.
1994: MG Dunnill; Allan J Richards; G Milana; F Mollica; D Atherton; I Winship; M Farrall; L al-Imara; Robin A J Eady; F Michael Pope
Genetic linkage to the type VII collagen gene (COL7A1) in 26 families with generalised recessive dystrophic epidermolysis bullosa and anchoring fibril abnormalities.
Journal of medical genetics 1994;31(10):745-8.
1994: MG Dunnill; Allan J Richards; G Milana; F Mollica; Robin A J Eady; F Michael Pope
A novel homozygous point mutation in the collagen VII gene (COL7A1) in two cousins with recessive dystrophic epidermolysis bullosa.
Human molecular genetics 1994;3(9):1693-4.
1994: P Narcisi; Allan J Richards; S D Ferguson; F Michael Pope
A family with Ehlers-Danlos syndrome type III/articular hypermobility syndrome has a glycine 637 to serine substitution in type III collagen.
Human molecular genetics 1994;3(9):1617-20.
1994: Allan J Richards; L al-Imara; Nigel P Carter; J C Lloyd; MA Leversha; F Michael Pope
Localization of the gene (LAMA4) to chromosome 6q21 and isolation of a partial cDNA encoding a variant laminin A chain.
Genomics 1994;22(1):237-9.
1994: Cay M Kielty; J E Phillips; A H Child; F Michael Pope; C Adrian Shuttleworth
Fibrillin secretion and microfibril assembly by Marfan dermal fibroblasts.
Matrix biology : journal of the International Society for Matrix Biology 1994;14(2):191-9.
1994: Martin P Snead; S J Payne; David Barton; J R W Yates; L al-Imara; F Michael Pope; J D Scott
Stickler syndrome: correlation between vitreoretinal phenotypes and linkage to COL 2A1.
Eye (London, England) 1994;8 ( Pt 6)():609-14.
1993: A Richards; P Narcisi; J Lloyd; C Ferguson; F Michael Pope
The substitution of glycine 661 by arginine in type III collagen produces mutant molecules with different thermal stabilities and causes Ehlers-Danlos syndrome type IV.
Journal of medical genetics 1993;30(8):690-3.
1993: P Narcisi; Y Wu; Gerard Tromp; James Earley; Allan J Richards; F Michael Pope; Helena Kuivaniemi
Single base mutation that substitutes glutamic acid for glycine 1021 in the COL3A1 gene and causes Ehlers-Danlos syndrome type IV.
American journal of medical genetics 1993;46(3):278-83.
1993: J Lloyd; P Narcisi; A Richards; F Michael Pope
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 IV.
Journal of medical genetics 1993;30(5):376-80.
1992: F Michael Pope; A Komorowska; K W Lee; Paul M Speight; H Zorawska; H Ranta; H S Coonar; J L MacKenzie
Ehlers Danlos syndrome type I with novel dental features.
Journal of oral pathology & medicine : official publication of the International Association of Oral Pathologists and the American Academy of Oral Pathology 1992;21(9):418-21.
1992: S Kontusaari; Gerard Tromp; Helena Kuivaniemi; C Stolle; F Michael Pope; Darwin J Prockop
Substitution of aspartate for glycine 1018 in the type III procollagen (COL3A1) gene causes type IV Ehlers-Danlos syndrome: the mutated allele is present in most blood leukocytes of the asymptomatic and mosaic mother.
American journal of human genetics 1992;51(3):497-507.
1992: K Kainulainen; L Y Sakai; A Child; F Michael Pope; L Puhakka; L Ryhänen; Aarno Palotie; Ilkka Kaitila; Leena Peltonen
Two mutations in Marfan syndrome resulting in truncated fibrillin polypeptides.
Proceedings of the National Academy of Sciences of the United States of America 1992;89(13):5917-21.
1992: Lieve Nuytinck; P Narcisi; A Nicholls; J P Renard; F Michael Pope; Anne De Paepe
Detection and characterisation of an overmodified type III collagen by analysis of non-cutaneous connective tissues in a patient with Ehlers-Danlos syndrome IV.
Journal of medical genetics 1992;29(6):375-80.
1992: L al-Imara; Allan J Richards; Robin A J Eady; I M Leigh; M Farrall; F Michael Pope
Linkage of autosomal dominant dystrophic epidermolysis bullosa in three British families to the marker D3S2 close to the COL7A1 locus.
Journal of medical genetics 1992;29(6):381-2.
1992: Allan J Richards; P N Ward; P Narcisi; AC Nicholls; J C Lloyd; F Michael Pope
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.
Human genetics 1992;89(4):414-8.
1992: AC Nicholls; J Oliver; D V Renouf; D A Heath; F Michael Pope
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.
Human genetics 1992;88(6):627-33.
1992: F Michael Pope; AC Nicholls; A Palan; Mei Lan Kwee; W P De Groot; R Hausmann
Clinical features of an affected father and daughter with Ehlers-Danlos syndrome type VIIB.
The British journal of dermatology 1992;126(1):77-82.
1992: Allan J Richards; J C Lloyd; P Narcisi; P N Ward; AC Nicholls; Anne De Paepe; F Michael Pope
A 27-bp deletion from one allele of the type III collagen gene (COL3A1) in a large family with Ehlers-Danlos syndrome type IV.
Human genetics 1992;88(3):325-30.
1992: P H Johnson; Allan J Richards; F Michael Pope; David A Hopkinson
A COL3A1 glycine 1006 to glutamic acid substitution in a patient with Ehlers-Danlos syndrome type IV detected by denaturing gradient gel electrophoresis.
Journal of inherited metabolic disease 1992;15(3):426-30.
1991: AC Nicholls; J Oliver; D V Renouf; M Keston; F Michael Pope
Substitution of cysteine for glycine at residue 415 of one allele of the alpha 1(I) chain of type I procollagen in type III/IV osteogenesis imperfecta.
Journal of medical genetics 1991;28(11):757-64.
1991: Allan J Richards; J C Lloyd; P N Ward; Anne De Paepe; P Narcisi; F Michael Pope
Characterisation of a glycine to valine substitution at amino acid position 910 of the triple helical region of type III collagen in a patient with Ehlers-Danlos syndrome type IV.
Journal of medical genetics 1991;28(7):458-63.
1991: AC Nicholls; J Oliver; D V Renouf; J McPheat; A Palan; F Michael Pope
Ehlers-Danlos syndrome type VII: a single base change that causes exon skipping in the type I collagen alpha 2(I) chain.
Human genetics 1991;87(2):193-8.
1991: F Michael Pope; B E Kendall; Gabrielle Slapak; R Kapoor; W I McDonald; D A Compston; R Mitchell; D T Hope; M W Millar-Craig; J C Dean
Type III collagen mutations cause fragile cerebral arteries.
British journal of neurosurgery 1991;5(6):551-74.
1990: S Blanton; M Sarfarazi; H Eiberg; J de Groote; P A Farndon; Michael W Kilpatrick; A H Child; F Michael Pope; Leena Peltonen; Clair A Francomano
An exclusion map of Marfan syndrome.
Journal of medical genetics 1990;27(2):73-7.
1990: J de Groote; P A Farndon; M V Kilpatrick; Anne De Paepe; J W Oorthuys; N C Nevin; A H Child; F Michael Pope
Linkage data for Marfan syndrome and markers on chromosomes 1 and 11.
Journal of medical genetics 1990;27(2):82-5.
1989: Gerard Tromp; Helena Kuivaniemi; C Stolle; F Michael Pope; Darwin J Prockop
Single base mutation in the type III procollagen gene that converts the codon for glycine 883 to aspartate in a mild variant of Ehlers-Danlos syndrome IV.
The Journal of biological chemistry 1989;264(32):19313-7.
1989: A Komorowska; D Rozynkowa; K W Lee; D V Renouf; AC Nicholls; J MacKenzie; F Michael Pope
A Polish variant of isolated dentinogenesis imperfecta with a generalised connective tissue defect.
British dental journal 1989;167(7):239-43.
1989: F Michael Pope; S C Daw; P Narcisi; A R Richards; AC Nicholls
Prenatal diagnosis and prevention of inherited abnormalities of collagen.
Journal of inherited metabolic disease 1989;12 Suppl 1():135-73.
1988: F Michael Pope; P Narcisi; AC Nicholls; M Liberman; J W Oorthuys
Clinical presentations of Ehlers Danlos syndrome type IV.
Archives of disease in childhood 1988;63(9):1016-25.
1988: F Michael Pope; AC Nicholls; P Narcisi; A Temple; Y Chia; P Fryer; Anne De Paepe; W P De Groote; J R McEwan; D A Compston
Type III collagen mutations in Ehlers Danlos syndrome type IV and other related disorders.
Clinical and experimental dermatology 1988;13(5):285-302.
1988: R Fox; F Michael Pope; P Narcisi; AC Nicholls; B E Kendall; Margaret D Hourihan; D A Compston
Spontaneous carotid cavernous fistula in Ehlers Danlos syndrome.
Journal of neurology, neurosurgery, and psychiatry 1988;51(7):984-6.
1988: AC Nicholls; Anne De Paepe; P Narcisi; Raymond Dalgleish; F De Keyser; M Matton; F Michael Pope
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.
Human genetics 1988;78(3):276-81.
1987: Anne De Paepe; A Nicholls; P Narcisi; F De Keyser; J Quatacker; M Van Staey; M Matton; F Michael Pope
Ehlers-Danlos syndrome type I: a clinical and ultrastructural study of a family with reduced amounts of collagen type III.
The British journal of dermatology 1987;117(1):89-97.
1984: D L Roberts; F Michael Pope; AC Nicholls; P Narcisi
Ehlers-Danlos syndrome type IV mimicking non-accidental injury in a child.
The British journal of dermatology 1984;111(3):341-5.