A. Richards

发表

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.

Characterization and functional analysis of laminin isoforms in human bone marrow

M. Seiffert, B. Torok-Storb, G. Klein, 2000 .

Bilateral giant retinal tears in Osteogenesis Imperfecta

P. Scollo, R. Pollitt, C. Devile, 2018, BMC Medical Genetics.

Molecular genetics of rhegmatogenous retinal detachment

J. D. Scott, M. Snead, A. Richards, 2002, Eye.

rhegmatogenous retinal detachment

A. Richards, 2002 .

S. Mehta, A. Offiah, K. Rosendahl, 2019, American journal of medical genetics. Part A.

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

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

COL3A1 mutations cause variable clinical phenotypes including acrogeria and vascular rupture

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

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.

Posterior Vitreous Detachment and the Posterior Hyaloid Membrane.

G. A. Limb, D. Snead, S. James, 2017, Ophthalmology.

Clinicopathological changes at the vitreoretinal junction: posterior vitreous detachment

D. Snead, S. James, M. Snead, 2008, Eye.

Autosomal Recessive Stickler Syndrome

P. Alexander, M. Snead, A. Richards, 2020, Genes.

Homozygous Type IX collagen variants (COL9A1, COL9A2, and COL9A3) causing recessive Stickler syndrome—Expanding the phenotype

P. Bearcroft, P. Alexander, J. Cobben, 2019, American journal of medical genetics. Part A.

Alternative splicing modifies the effect of mutations in COL11A1 and results in recessive type 2 Stickler syndrome with profound hearing loss

A. Moore, M. Lees, B. Castle, 2013, Journal of Medical Genetics.

Prevalence of mitral valve prolapse in Stickler syndrome

N. Ahmad, J. Yates, John D. Scott, 2003, American journal of medical genetics. Part A.

High efficiency of mutation detection in type 1 stickler syndrome using a two‐stage approach: vitreoretinal assessment coupled with exon sequencing for screening COL2A1

J. Whittaker, D. Baguley, P. Bearcroft, 2006, Human mutation.

Laminins in decidua, placenta and choriocarcinoma cells

J. Aplin, H. Church, A. Richards, 1997 .

Wagner syndrome Clinical characterisation and molecular analysis of

D. Flanagan, John D. Scott, M. Snead, 2008 .

Clinical characterisation and molecular analysis of Wagner syndrome

D. Flanagan, John D. Scott, A. Poulson, 2006, British Journal of Ophthalmology.

Juxtafoveal Telangiectasias. Authors' reply

Z. Gregor, R. MacLaren, D. Charteris, 2008 .

Molecular Basis of Pathogenic Variants in the Fibrillar Collagens

M. Snead, A. Richards, 2022, Genes.

Somatic mosaicism and the phenotypic expression of COL2A1 mutations

R. Sandford, S. Nagendran, M. Snead, 2012, American journal of medical genetics. Part A.

Missense and silent mutations in COL2A1 result in Stickler syndrome but via different molecular mechanisms

John D. Scott, A. Poulson, M. Snead, 2007, Human mutation.

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

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

Dominant Stickler Syndrome

P. Alexander, M. Snead, A. Richards, 2022, Genes.

Stickler syndrome in children: a radiological review.

N. Shenker, P. Bearcroft, N. McArthur, 2018, Clinical radiology.

Stickler syndrome, ocular-only variants and a key diagnostic role for the ophthalmologist

P. Bearcroft, P. Gomersall, B. Silverman, 2011, Eye.

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.

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.

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

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

Mutations in a gene encoding an ABC transporter cause pseudoxanthoma elasticum

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

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.

Ophthalmic and molecular genetic findings in Kniest dysplasia

P. Sergouniotis, C. Spickett, A. Poulson, 2015, Eye.

The influence of pre-mRNA splicing on phenotypic modification in Stickler's syndrome and other type II collagenopathies

M. Snead, A. Richards, 2008, Eye.

Variation in the vitreous phenotype of Stickler syndrome can be caused by different amino acid substitutions in the X position of the type II collagen Gly-X-Y triple helix.

P. Harper, J. Yates, D. Baguley, 2000, American journal of human genetics.

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.

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

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

Inherited and de novo biallelic pathogenic variants in COL11A1 result in type 2 Stickler syndrome with severe hearing loss

S. Abbs, P. Vasudevan, P. Alexander, 2020, Molecular genetics & genomic medicine.

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.

Deletions within COL11A1 in Type 2 stickler syndrome detected by multiplex ligation-dependent probe amplification (MLPA)

V. Mcconnell, A. Donaldson, T. Lourenço, 2013, BMC Medical Genetics.

Characterization and functional analysis of laminin isoforms in human bone marrow.

M. Seiffert, B. Torok-Storb, G. Klein, 2000, Blood.

Retinal detachment and prophylaxis in type 1 Stickler syndrome.

S. Goodburn, John D. Scott, A. Poulson, 2008, Ophthalmology.

A novel mutation of COL2A1 resulting in dominantly inherited rhegmatogenous retinal detachment.

D. Baguley, P. Bearcroft, John D. Scott, 2005, Investigative ophthalmology & visual science.

Clinical, histological and ultrastructural studies of the posterior hyaloid membrane

D. Snead, J. D. Scott, A. Morris, 2002, Eye.

Stickler Syndrome: Airway Complications in a Case Series of 502 Patients

Basil Matta, P. Alexander, D. Stubbs, 2019, Anesthesia and analgesia.

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.

I.C. Hereditary Vitreo-Retinopathies

M. Snead, A. Richards, 2014 .

A Novel Mutation of COL 2 A 1 Resulting in Dominantly Inherited Rhegmatogenous Retinal Detachment

D. Baguley, P. Bearcroft, John D. Scott, 2005 .

Splicing analysis of unclassified variants in COL2A1 and COL11A1 identifies deep intronic pathogenic mutations

J. Whittaker, B. Treacy, K. Oakhill, 2011, European Journal of Human Genetics.

Hyperconvolution of the inner limiting membrane in vitreomaculopathies

D. Snead, S. James, N. Cullen, 2004, Graefe's Archive for Clinical and Experimental Ophthalmology.

Clinical features of type 2 Stickler syndrome

D. Baguley, P. Bearcroft, J. D. Scott, 2004, Journal of Medical Genetics.

Legg-Calve-Perthes’ disease: an opportunity to prevent blindness?

N. Shenker, P. Alexander, P. Bearcroft, 2023, Archives of Disease in Childhood.

Stickler syndrome: further mutations in COL11A1 and evidence for additional locus heterogeneity

J. Yates, Sam Martin, John D. Scott, 1999, European Journal of Human Genetics.

From First to Second: How Stickler’s Diagnostic Genetics Has Evolved to Match Sequencing Technologies

M. Snead, A. Richards, Howard Martin, 2022, Genes.

Clinical features and surgical management of retinal detachment secondary to round retinal holes

J. D. Scott, A. Poulson, M. Snead, 2005, Eye.

Genetic linkage to the collagen α1 (V) gene (COL5A1) in two British Ehlers–Danlos syndrome families with variable type I and II phenotypes

F. Pope, N. Burrows, A. Richards, 1997, Clinical and experimental dermatology.

Stickler syndrome and the vitreous phenotype: mutations in COL2A1 and COL11A1

Howard Martin, J. Whittaker, B. Treacy, 2010, Human mutation.

Retinal detachment in severe myopia

A. Poulson, P. Alexander, M. Snead, 2017, The Lancet.

Auditory dysfunction in type 2 Stickler Syndrome

D. Baguley, P. Gomersall, P. Alexander, 2020, European Archives of Oto-Rhino-Laryngology.

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.

Bone morphogenetic protein 4 (BMP4) loss-of-function variant associated with autosomal dominant Stickler syndrome and renal dysplasia

R. Sandford, S. Abbs, P. Alexander, 2018, European Journal of Human Genetics.

Deep Intronic Sequence Variants in COL2A1 Affect the Alternative Splicing Efficiency of Exon 2, and May Confer a Risk for Rhegmatogenous Retinal Detachment

A. Prescott, P. Hysi, C. Spickett, 2016, Human mutation.

Stickler syndrome – lessons from a national cohort

N. Shenker, P. Alexander, A. Poulson, 2021, Eye.

Use of vitreous phenotype as a key clinical marker to identify Ocular-only Stickler syndrome in a family with Marfan syndrome.

P. Alexander, M. Snead, A. Richards, 2023, European Journal of Ophthalmology.

Prevention of retinal detachment in Stickler syndrome: the Cambridge prophylactic cryotherapy protocol.

C. Carroll, L. Pasea, John D. Scott, 2014, Ophthalmology.

Genome-wide association study identifies genetic risk underlying primary rhegmatogenous retinal detachment.

A. D. den Hollander, A. Wright, A. Tenesa, 2013, Human molecular genetics.

Vitreous phenotype: A key diagnostic sign in Stickler syndrome types 1 and 2 complicated by double heterozygosity

F. Howard, L. Wilson, John D. Scott, 2007, American journal of medical genetics. Part A.

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.

Genome-wide association study identiﬁes genetic risk underlying primary rhegmatogenous retinal detachment

A. D. den Hollander, A. Wright, A. Tenesa, 2022 .

Significant ocular findings are a feature of heritable bone dysplasias resulting from defects in type II collagen

P. Bearcroft, M. Snead, A. Richards, 2007, British Journal of Ophthalmology.

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.

CLINICAL PHENOTYPES ASSOCIATED WITH TYPE II COLLAGEN MUTATIONS.

M. Snead, I. Hanspal, A. Richards, 2012, Journal of paediatrics and child health.

Bone morphogenetic protein 4 (BMP4) loss-of-function variant associated with autosomal dominant Stickler syndrome and renal dysplasia

R. Sandford, S. Abbs, P. Alexander, 2018, European Journal of Human Genetics.