F. Pope

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Single base mutation that substitutes glutamic acid for glycine 1021 in the COL3A1 gene and causes Ehlers-Danlos syndrome type IV.

H. Kuivaniemi, G. Tromp, P. Narcisi, 1993, American journal of medical genetics.

Two mutations in Marfan syndrome resulting in truncated fibrillin polypeptides.

L. Peltonen, I. Kaitila, A. Palotie, 1992, Proceedings of the National Academy of Sciences of the United States of America.

Autosomal dominant cutis laxa with severe lung disease: synthesis and matrix deposition of mutant tropoelastin.

E. Davis, Z. Urban, F. Pope, 2005, The Journal of investigative dermatology.

Classification of pseudoxanthoma elasticum: report of a consensus conference.

M. Lebwohl, V. McKusick, J. Uitto, 1994, Journal of the American Academy of Dermatology.

Accumulation of membrane‐bound melanosomes occurs in Langerhans cells of patients with the Leopard Syndrome

F. Pope, P. Fryer, F. Pope, 1992, Clinical and experimental dermatology.

Atypical COL3A1 variants (glutamic acid to lysine) cause vascular Ehlers–Danlos syndrome with a consistent phenotype of tissue fragility and skin hyperextensibility

N. Burrows, M. Whiteford, D. Baker, 2019, Genetics in Medicine.

Recognizing vascular Ehlers-Danlos syndrome (type IV) in the newborn.

N. Ghali, A. Vandersteen, E. Wakeling, 2017, Clinical dysmorphology.

Fibrillin secretion and microfibril assembly by Marfan dermal fibroblasts.

A. Child, C. Kielty, J. E. Phillips, 1994, Matrix biology : journal of the International Society for Matrix Biology.

Dermatosparaxis (Ehlers–Danlos Type VIIC): Prenatal Diagnosis Following a Previous Pregnancy With Unexpected Skull Fractures at Delivery

B. Wagner, P. Coucke, Marta C. Cohen, 2013, American journal of medical genetics. Part A.

Ehlers–Danlos syndrome type IV mimicking non‐accidental injury in a child

D. Roberts, F. Pope, P. Narcisi, 1984, The British journal of dermatology.

Severe panniculitis caused by homozygous ZZ α1‐antitrypsin deficiency treated successfully with human purified enzyme (Prolastin®)

J. Morris, B. Ferguson, A. D. Mcgregor, 2002, The British journal of dermatology.

Electrophoretic and immunoelectrophoretic analysis of pig epidermal plasma membrane glycoproteins.

I. King, A. Tabiowo, F. Pope, 1984, The Journal of investigative dermatology.

Isolation of intermediate filament assemblies from human hair follicles

L. N. Jones, F. Pope, 1985, The Journal of cell biology.

Pseudoxanthoma elasticum maps to an 820-kb region of the p13.1 region of chromosome 16.

M. Lebwohl, J. Ott, N. Doggett, 1999, Genomics.

A spectrum of ABCC6 mutations is responsible for pseudoxanthoma elasticum.

S. Terry, H. Göring, A. De Paepe, 2001, American journal of human genetics.

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.

H. Kuivaniemi, G. Tromp, D. Prockop, 1992, American journal of human genetics.

A family with Ehlers-Danlos syndrome type III/articular hypermobility syndrome has a glycine 637 to serine substitution in type III collagen.

P. Narcisi, A. Richards, F. Pope, 1994, Human molecular genetics.

Phenotypical features of an unique Irish family with severe autosomal recessive Osteogenesis imperfecta

A. Nicholls, L. Levin, E. M. Williams, 1989, Clinical genetics.

Retinoids increase the incorporation of D-[3H]galactose into epidermal glycoproteins.

I. King, F. Pope, 1984, Biochemical and biophysical research communications.

Type III collagen mutations cause fragile cerebral arteries.

D. T. Hope, W. Mcdonald, R. Kapoor, 1991, British journal of neurosurgery.

Detection and characterisation of an overmodified type III collagen by analysis of non-cutaneous connective tissues in a patient with Ehlers-Danlos syndrome IV.

A. De Paepe, L. Nuytinck, J. Renard, 1992, Journal of medical genetics.

Electron microscopy in the diagnosis of Ehlers–Danlos syndromes: correlation with clinical and genetic investigations

D. Baker, A. Brady, N. Ghali, 2020, British Journal of Dermatology.

Absence of Collagen Flowers on Electron Microscopy and Identification of (Likely) Pathogenic COL5A1 Variants in Two Patients

A. Brady, M. Ritelli, M. Colombi, 2019, Genes.

A cohort of 17 patients with kyphoscoliotic Ehlers–Danlos syndrome caused by biallelic mutations in FKBP14: expansion of the clinical and mutational spectrum and description of the natural history

C. Fauth, C. Bönnemann, J. Pilch, 2017, Genetics in Medicine.

Clinical, structural, biochemical and X‐ray crystallographic correlates of pathogenicity for variants in the C‐propeptide region of the COL3A1 gene

S. Holden, D. Hulmes, N. Ghali, 2015, American journal of medical genetics. Part A.

Molecular genetic and clinical review of Ehlers-Danlos Type VIIA: implications for management by the plastic surgeon in a multidisciplinary setting.

I. Whitaker, W. Rozen, S. Cairns, 2009, Journal of plastic, reconstructive & aesthetic surgery : JPRAS.

The structural organisation of LAMA4, the gene encoding laminin alpha4.

C. Luccarini, F. Pope, A. Richards, 1997, European Journal of Biochemistry.

COL2A1 exon 2 mutations: relevance to the Stickler and Wagner syndromes

J. Yates, D. Baguley, Sam Martin, 2000, The British journal of ophthalmology.

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.

H. Kuivaniemi, G. Tromp, D. Prockop, 1989, The Journal of biological chemistry.

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

J. Lloyd, P. Narcisi, A. Nicholls, 1992, Human Genetics.

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

R. Dalgleish, A. Paepe, F. Keyser, 1988, Human Genetics.

A 27-bp deletion from one allele of the type III collagen gene (COL3A1) in a large family with Ehlers-Danlos syndrome type IV

A. Paepe, J. Lloyd, P. Narcisi, 2004, Human Genetics.

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.

J. Lloyd, P. Narcisi, M. Pope, 1993, Journal of medical genetics.

Synthesis of cellular and extracellular glycoproteins by cultured human keratinocytes and their response to retinoids.

I. King, F. Pope, 1986, Biochimica et biophysica acta.

Lipoid proteinosis—new immunopathological observations

M. Black, J. Newton, A. Temple, 1991, Clinical and experimental dermatology.

The prevalence of bone cysts in Darier's disease: a survey of 31 cases

R. Thomas, M. Black, C. Payne, 1984, Clinical and experimental dermatology.

(17) Disseminate and recurrent infundibulo‐folliculitis

C. Archer, E. Cronin, F. Pope, 1985 .

Chapter 3 Anatomy and Organization of Human Skin

J. McGrath, R. Eady, F. M. Pope, 2004 .

Anatomy and Organization of Human Skin

J. McGrath, R. Eady, F. M. Pope, 2008 .

Clinicopathological correlations of compound heterozygous COL7A1 mutations in recessive dystrophic epidermolysis bullosa.

J. Uitto, J. McGrath, A. Christiano, 1996, The Journal of investigative dermatology.

The gene encoding collagen alpha1(V)(COL5A1) is linked to mixed Ehlers-Danlos syndrome type I/II.

J. Yates, N. Burrows, A. Nicholls, 1996, The Journal of investigative dermatology.

Ehlers‐Danlos syndrome type I: a clinical and ultrastructural study of a family with reduced amounts of collagen type III

A. Paepe, F. Keyser, P. Narcisi, 1987, The British journal of dermatology.

Mutations in a gene encoding an ABC transporter cause pseudoxanthoma elasticum

S. Terry, K. Csiszȧr, A. De Paepe, 2000, Nature Genetics.

Dark adaptation and scotopic perimetry over 'peau d'orange' in pseudoxanthoma elasticum.

A. Bird, F. Fitzke, F. Holz, 1994, The British journal of ophthalmology.

A single base mutation in COL5A2 causes Ehlers-Danlos syndrome type II.

N. Burrows, A. Nicholls, N. Burrows, 1998, Journal of medical genetics.

Linkage of autosomal dominant dystrophic epidermolysis bullosa in three British families to the marker D3S2 close to the COL7A1 locus.

M. Farrall, I. Leigh, R. Eady, 1992, Journal of medical genetics.

Genetic linkage to the type VII collagen gene (COL7A1) in 26 families with generalised recessive dystrophic epidermolysis bullosa and anchoring fibril abnormalities.

M. Farrall, I. Winship, R. Eady, 1994, Journal of medical genetics.

Type III collagen mutations in Ehlers Danlos Syndrome type IV and other related disorders

A. Paepe, J. McEwan, D. Compston, 1988, Clinical and experimental dermatology.

A glycine to aspartic acid substitution of COL2A1 in a family with the Strudwick variant of spondyloepimetaphyseal dysplasia.

C. Tysoe, T. Cole, F. Pope, 2003, QJM : monthly journal of the Association of Physicians.

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.

A. De Paepe, J. Lloyd, P. Narcisi, 1991, Journal of medical genetics.

Vitreoretinopathy with phalangeal epiphyseal dysplasia, a type II collagenopathy resulting from a novel mutation in the C-propeptide region of the molecule

P. Holmans, M. Owen, C. Tysoe, 2002, Journal of medical genetics.

ABCA12 Is a Major Causative Gene for Non-Bullous Congenital Ichthyosiform Erythroderma

H. Kuivaniemi, G. Tromp, D. Prockop, 2009 .

Ehlers-Danlos syndrome type VII: a single base change that causes exon skipping in the type I collagen α2(I) chain

A. Nicholls, D. Renouf, J. McPheat, 1991, Human Genetics.

Efficient strategy for the detection of mutations in acrogeric Ehlers‐danlos syndrome type IV

D. Hopkinson, P. Johnson, A. Richards, 1995, Human Mutation.

The complete cDNA sequence of laminin alpha 4 and its relationship to the other human laminin alpha chains.

F. Pope, L. Al-Imara, A. Richards, 1996, European journal of biochemistry.

A mother and three daughters with congenital dislocation of the hip and a characteristic facial appearance: a new syndrome?

A. Collins, N. Dennis, N. Clarke, 1995, Clinical dysmorphology.

Clinical features, molecular results, and management of 12 individuals with the rare arthrochalasia Ehlers‐Danlos syndrome

D. Baker, A. Brady, Diana S. Johnson, 2020, American journal of medical genetics. Part A.

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.

J. Yates, S. Payne, J. D. Scott, 1996, Human molecular genetics.

The gene responsible for Werner syndrome may be a cell division "counting" gene.

R. Faragher, S. Shall, I. Kill, 1993, Proceedings of the National Academy of Sciences of the United States of America.

A highly polymorphic region 3' to the human type II collagen gene

Neil G. Stoker, K. S. Cheah, J. R. Griffin, 1985, Nucleic Acids Res..

Periodontal Ehlers-Danlos Syndrome Is Caused by Mutations in C1R and C1S, which Encode Subcomponents C1r and C1s of Complement

D. Nickerson, M. Dorschner, T. Meitinger, 2016, American journal of human genetics.

Restrictive dermopathy: a disorder of skin differentiation with abnormal integrin expression

J. Dean, N. C. Smith, E. Gray, 1993, Clinical genetics.

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.

N P Burrows, C. Luccarini, J. Yates, 1998, American journal of human genetics.

An exclusion map of Marfan syndrome.

L. Peltonen, J. de Groote, H. Eiberg, 1990, Journal of medical genetics.

Targeted next-generation sequencing makes new molecular diagnoses and expands genotype–phenotype relationship in Ehlers–Danlos syndrome

N. Cheshire, R. Grahame, T. Aitman, 2016, Genetics in Medicine.

A novel ophthalmic presentation of the Proteus syndrome.

M. Snead, R. Sheard, F. Pope, 2002, Ophthalmology.

AORTIC COMPLIANCE IN PATIENTS WITH RUPTURED INTRACRANIAL ANEURYSMS

J. Bartlett, A. Child, G. Neil-Dwyer, 1983, The Lancet.

Classical-like Ehlers–Danlos syndrome: a clinical description of 20 newly identified individuals with evidence of tissue fragility

D. Baker, A. Brady, Diana S. Johnson, 2020, Genetics in Medicine.

Type III Collagen Deficient EDS IV Producing Muscular Hypotonia with Abnormal Muscle Fibroblasts*

A. Kaminska, A. Fidziańska, Z. Glinka, 1991, Neuropediatrics.

Spontaneous carotid cavernous fistula in Ehlers Danlos syndrome.

D. Compston, M. Hourihan, P. Narcisi, 1988, Journal of neurology, neurosurgery, and psychiatry.

Aortic compliance in connective tissue disorders affecting the eye

R. Gosling, A. Child, B. Jay, 1981 .

Splice site mutation causing deletion of exon 21 sequences from the proα2(I) chain of type I collagen in a patient with severe dentinogenesis imperfecta but very mild osteogenesis imperfecta

A. Nicholls, F. Pope, G. Winter, 1996, Human mutation.

Non-oral manifestations in adults with a clinical and molecularly confirmed diagnosis of periodontal Ehlers-Danlos syndrome

J. Zschocke, N. Ghali, D. Johnson, 2023, Frontiers in Genetics.

Two patients with Ehlers–Danlos syndrome type VIII with unexpected hoarseness

D. Ferguson, A. Vandersteen, F. Pope, 2016, Clinical and experimental dermatology.

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.

J. Lloyd, P. Narcisi, A. Richards, 1993, Journal of medical genetics.

The role of cutaneous manifestations in the diagnosis of the Ehlers‐Danlos syndromes

N. Burrows, I. Winship, S. Seneviratne, 2022, Skin health and disease.

Congenital cutis laxa and lysyl oxidase deficiency

R. Trompeter, A. Khakoo, F. Pope, 1997, Clinical genetics.

Heterogeneity of pseudoxanthoma elasticum: delineation of a new form?

P. Beighton, D. Viljoen, F. Pope, 1987, Clinical genetics.

Arterial complications in classical Ehlers-Danlos syndrome: a case series

D. Baker, A. Brady, Diana S. Johnson, 2020, Journal of Medical Genetics.

An atypical cutaneous presentation of vasculitis with features of Churg–Strauss syndrome, associated with anti‐neutrophil cytoplasmic antibodies and anti‐glomerular basement membrane antibodies

A. Robson, C. Gleeson, H. Cook, 2009, Clinical and experimental dermatology.

Localization of the gene (LAMA4) to chromosome 6q21 and isolation of a partial cDNA encoding a variant laminin A chain.

N. Carter, M. Leversha, J. Lloyd, 1994, Genomics.

Classical-like Ehlers–Danlos syndrome: a clinical description of 20 newly identified individuals with evidence of tissue fragility

A. Brady, Diana S. Johnson, V. Mcconnell, 2020, Genetics in Medicine.

Atypical COL3A1 variants (glutamic acid to lysine) cause vascular Ehlers–Danlos syndrome with a consistent phenotype of tissue fragility and skin hyperextensibility

N. Burrows, M. Whiteford, D. Baker, 2019, Genetics in Medicine.

Mutations in the gene encoding capillary morphogenesis protein 2 cause juvenile hyaline fibromatosis and infantile systemic hyalinosis.

N. Rahman, P. Futreal, F. Muntoni, 2003, American journal of human genetics.

Linkage data for Marfan syndrome and markers on chromosomes 1 and 11.

A. Child, A. Paepe, N. Nevin, 1990, Journal of medical genetics.

An exon skipping mutation of a type V collagen gene (COL5A1) in Ehlers-Danlos syndrome.

D. Greenspan, F. Pope, A. Nicholls, 1996, Journal of medical genetics.

Platelet and coagulation studies in Ehlers Danlos syndrome

A. Anstey, M. Winter, F. Pope, 1990, The British journal of dermatology.

A neuromuscular disorder with homozygosity for PIEZO2 gene variants: an important differential diagnosis for kyphoscoliotic Ehlers-Danlos Syndrome.

S. Ellard, E. De Franco, A. Brady, 2019, Coronary artery disease.

COL3A1 mutations cause variable clinical phenotypes including acrogeria and vascular rupture

G. Pals, F. Pope, P. Narcisi, 1996, The British journal of dermatology.

The gene for juvenile hyaline fibromatosis maps to chromosome 4q21.

N. Rahman, P. Futreal, S. Edkins, 2002, American journal of human genetics.

Connective tissue naevus (collagenoma) in a patient with benign joint hypermobility syndrome (Ehlers–Danlos syndrome type III)

C. Bunker, R. Grahame, F. Pope, 2003, Clinical and experimental dermatology.

Dermatosparaxis (Ehlers–Danlos Type VIIC): Prenatal Diagnosis Following a Previous Pregnancy With Unexpected Skull Fractures at Delivery

B. Wagner, P. Coucke, Marta C. Cohen, 2013, American journal of medical genetics. Part A.