Search Results - "Richards, Allan J"

Splicing analysis of unclassified variants in COL2A1 and COL11A1 identifies deep intronic pathogenic mutations by RICHARDS, Allanj, MCNINCH, Annie, WHITTAKER, Joanne, TREACY, Becky, OAKHILL, Kim, POULSON, Arabella, SNEAD, Martin P

“…UK NHS diagnostic service sequence analysis of genes generally examines and reports on variations within a designated region 5' and 3' of each exon, typically…”
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Retinal Detachment and Prophylaxis in Type 1 Stickler Syndrome by Ang, Alan, FRCOphth, Poulson, Arabella V., FRCOphth, Goodburn, Sandy F., PhD, Richards, Allan J., PhD, Scott, John D., FRCOphth, Snead, Martin P., MD, FRCOphth

“…Purpose To report the prevalence of retinal detachment (RD) and results of prophylaxis against detachment from a giant retinal tear in a large cohort of…”
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Inherited and de novo biallelic pathogenic variants in COL11A1 result in type 2 Stickler syndrome with severe hearing loss by Nixon, Thomas, Richards, Allan J., Lomas, Adrian, Abbs, Stephen, Vasudevan, Pradeep, McNinch, Annie, Alexander, Philip, Snead, Martin P.

“…Background Type 2 Stickler syndrome is usually a dominant disorder resulting from pathogenic variants in COL11A1 encoding the alpha 1 chain of type XI…”
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Somatic mosaicism and the phenotypic expression of COL2A1 mutations by Nagendran, Sonali, Richards, Allan J., McNinch, Annie, Sandford, Richard N., Snead, Martin P.

“…Mutations in COL2A1, the gene for type II‐collagen, can result in a wide variety of phenotypes depending upon the nature of the mutation. Dominant negative…”
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Pathobiology of the crystalline lens in Stickler syndrome by Snead, Martin P., Lovicu, Frank J., Nixon, Thomas RW, Richards, Allan J., Martin, Howard

“…The Stickler syndromes are a group of connective tissue disorders characterised by congenital myopia, giant retinal tear and retinal detachment, cleft palate,…”
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Ophthalmic manifestations of Czech dysplasia by Soh, Zack, Martin, Howard, Richards, Allan J., Suri, Mohnish, Snead, Martin P.

“…Czech dysplasia is an autosomal dominant type 2 collagenopathy that is caused by heterozygosity for the recurrent p.(Arg275Cys) COL2A1 variant. Affected…”
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Dominant Stickler Syndrome by Soh, Zack, Richards, Allan J, McNinch, Annie, Alexander, Philip, Martin, Howard, Snead, Martin P

“…The Stickler syndromes are a group of genetic connective tissue disorders associated with an increased risk of rhegmatogenous retinal detachment, deafness,…”
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Retinal detachment in Type IX collagen recessive Stickler syndrome by Maghsoudi, Daniel, Nixon, Thomas Rw, Martin, Howard, Richards, Allan J, McNinch, Annie M, Alexander, Philip, Poulson, Arabella V, Snead, Martin P

“…Stickler Syndrome (SS) is associated with eye, joint and orofacial abnormalities. Most cases are dominantly inherited through COL2A1/COL11A1 variants encoding…”
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Prevention of retinal detachment in Stickler syndrome: the Cambridge prophylactic cryotherapy protocol by Fincham, Gregory S, Pasea, Laura, Carroll, Christopher, McNinch, Annie M, Poulson, Arabella V, Richards, Allan J, Scott, John D, Snead, Martin P

“…The Stickler syndromes are the most common causes of inherited and childhood retinal detachment; however, no consensus exists regarding the effectiveness of…”
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Molecular Basis of Pathogenic Variants in the Fibrillar Collagens by Richards, Allan J., Snead, Martin P.

“…The fibrillar collagen family is comprised of the quantitatively major types I, II and III collagens and the quantitatively minor types V and XI. These form…”
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Stickler Syndrome: Airway Complications in a Case Series of 502 Patients by Zimmermann, Julia, Stubbs, Daniel J., Richards, Allan J., Alexander, Philip, McNinch, Annie M., Matta, Basil, Snead, Martin P.

“…BACKGROUND:Patients with Stickler syndrome often require emergency surgery and are often anesthetized in nonspecialist units, typically for retinal detachment…”
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Prevention of Retinal Detachment in Stickler Syndrome by Fincham, Gregory S., MRCOphth, Pasea, Laura, MSc, Carroll, Christopher, PhD, McNinch, Annie M., SRN, Poulson, Arabella V., FRCOphth, Richards, Allan J., PhD, Scott, John D., FRCOphth, Snead, Martin P., MD, FRCOphth

“…Purpose The Stickler syndromes are the most common causes of inherited and childhood retinal detachment; however, no consensus exists regarding the…”
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Use of vitreous phenotype as a key clinical marker to identify Ocular-only Stickler syndrome in a family with Marfan syndrome by Malik, Hammad, Soh, Zack, Nixon, Thomas R. W., McNinch, Annie, Richards, Allan J., Alexander, Philip, Martin, Howard, Snead, Martin P.

“…This clinical report describes a family with both Marfan and ocular-only Stickler syndromes. We report 2 cases of ocular-only Stickler syndrome and 2 cases of…”
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Stickler syndrome and the vitreous phenotype: mutations in COL2A1 and COL11A1 by Richards, Allan J, McNinch, Annie, Martin, Howard, Oakhill, Kim, Rai, Harjeet, Waller, Sarah, Treacy, Becky, Whittaker, Joanne, Meredith, Sarah, Poulson, Arabella, Snead, Martin P

“…Stickler syndrome is a dominantly inherited disorder affecting the fibrillar type II/XI collagen molecules expressed in vitreous and cartilage. Mutations have…”
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From First to Second: How Stickler’s Diagnostic Genetics Has Evolved to Match Sequencing Technologies by Martin, Howard, Richards, Allan J., Snead, Martin P.

“…Diagnostic genetics within the United Kingdom National Health Service (NHS) has undergone many stepwise improvements in technology since the completion of the…”
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Autosomal Recessive Stickler Syndrome by Nixon, Thomas R. W., Richards, Allan J., Martin, Howard, Alexander, Philip, Snead, Martin P.

“…Stickler syndrome (SS) is a genetic disorder with manifestations in the eye, ear, joints, face and palate. Usually inherited in a dominant fashion due to…”
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Alternative splicing modifies the effect of mutations in COL11A1 and results in recessive type 2 Stickler syndrome with profound hearing loss by Richards, Allan J, Fincham, Gregory S, McNinch, Annie, Hill, David, Poulson, Arabella V, Castle, Bruce, Lees, Melissa M, Moore, Anthony T, Scott, John D, Snead, Martin P

“…Stickler syndromes types 1, 2 and 3 are usually dominant disorders caused by mutations in the genes COL2A1, COL11A1 and COL11A2 that encode the fibrillar…”
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Deep Intronic Sequence Variants in COL2A1 Affect the Alternative Splicing Efficiency of Exon 2, and May Confer a Risk for Rhegmatogenous Retinal Detachment by Spickett, Carl, Hysi, Pirro, Hammond, Chistopher J, Prescott, Alan, Fincham, Gregory S, Poulson, Arabella V, McNinch, Annie M, Richards, Allan J, Snead, Martin P

“…ABSTRACT COL2A1 mutations causing haploinsufficiency of type II collagen cause type 1 Stickler syndrome that has a high risk of retinal detachment and failure…”
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Genome-wide association study identifies genetic risk underlying primary rhegmatogenous retinal detachment by Kirin, Mirna, Chandra, Aman, Charteris, David G, Hayward, Caroline, Campbell, Susan, Celap, Ivana, Bencic, Goran, Vatavuk, Zoran, Kirac, Iva, Richards, Allan J, Tenesa, Albert, Snead, Martin P, Fleck, Brian W, Singh, Jaswinder, Harsum, Steven, Maclaren, Robert E, den Hollander, Anneke I, Dunlop, Malcolm G, Hoyng, Carel B, Wright, Alan F, Campbell, Harry, Vitart, Veronique, Mitry, Danny

“…Rhegmatogenous retinal detachment (RRD) is an important cause of vision loss and can potentially lead to blindness. The underlying pathogenesis is complex and…”
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Stickler syndrome: further mutations in COL11A1 and evidence for additional locus heterogeneity by Martin, S, Richards, A J, Yates, J R, Scott, J D, Pope, M, Snead, M P

“…Stickler syndrome (hereditary arthro-ophthalmopathy) is a dominantly inherited connective tissue disorder with ocular, oro-facial, auditory and skeletal…”
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