Cambridge Prophylactic Protocol, Retinal Detachment, and Stickler Syndrome
Alexander, Philip, Fincham, Gregory S., Brown, Senjah, Collins, David, McNinch, Annie M., Poulson, Arabella V., Richards, Allan, Martin, Howard, Wareham, Nick, Snead, Martin P.
Published in The New England journal of medicine (06.04.2023)
Published in The New England journal of medicine (06.04.2023)
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Journal Article
Prevention of retinal detachment in Stickler syndrome: the Cambridge prophylactic cryotherapy protocol
Fincham, Gregory S, Pasea, Laura, Carroll, Christopher, McNinch, Annie M, Poulson, Arabella V, Richards, Allan J, Scott, John D, Snead, Martin P
Published in Ophthalmology (Rochester, Minn.) (01.08.2014)
Published in Ophthalmology (Rochester, Minn.) (01.08.2014)
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Journal Article
Stickler Syndrome: Airway Complications in a Case Series of 502 Patients
Zimmermann, Julia, Stubbs, Daniel J, Richards, Allan J, Alexander, Philip, McNinch, Annie M, Matta, Basil, Snead, Martin P
Published in Anesthesia and analgesia (01.01.2021)
Published in Anesthesia and analgesia (01.01.2021)
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Journal Article
Dominant Stickler Syndrome
Soh, Zack, Richards, Allan J, McNinch, Annie, Alexander, Philip, Martin, Howard, Snead, Martin P
Published in Genes (18.06.2022)
Published in Genes (18.06.2022)
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Journal Article
Deep Intronic Sequence Variants in COL2A1 Affect the Alternative Splicing Efficiency of Exon 2, and May Confer a Risk for Rhegmatogenous Retinal Detachment
Spickett, Carl, Hysi, Pirro, Hammond, Chistopher J, Prescott, Alan, Fincham, Gregory S, Poulson, Arabella V, McNinch, Annie M, Richards, Allan J, Snead, Martin P
Published in Human mutation (01.10.2016)
Published in Human mutation (01.10.2016)
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Journal Article
Splicing analysis of unclassified variants in COL2A1 and COL11A1 identifies deep intronic pathogenic mutations
RICHARDS, Allanj, MCNINCH, Annie, WHITTAKER, Joanne, TREACY, Becky, OAKHILL, Kim, POULSON, Arabella, SNEAD, Martin P
Published in European journal of human genetics : EJHG (01.05.2012)
Published in European journal of human genetics : EJHG (01.05.2012)
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Journal Article
Inherited and de novo biallelic pathogenic variants in COL11A1 result in type 2 Stickler syndrome with severe hearing loss
Nixon, Thomas, Richards, Allan J., Lomas, Adrian, Abbs, Stephen, Vasudevan, Pradeep, McNinch, Annie, Alexander, Philip, Snead, Martin P.
Published in Molecular genetics & genomic medicine (01.09.2020)
Published in Molecular genetics & genomic medicine (01.09.2020)
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Journal Article
Posterior Vitreous Detachment and the Posterior Hyaloid Membrane
Fincham, Gregory S., James, Sean, Spickett, Carl, Hollingshead, Michael, Thrasivoulou, Christopher, Poulson, Arabella V., McNinch, Annie, Richards, Allan, Snead, David, Limb, Gloria A., Snead, Martin P.
Published in Ophthalmology (Rochester, Minn.) (01.02.2018)
Published in Ophthalmology (Rochester, Minn.) (01.02.2018)
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Journal Article
Bone morphogenetic protein 4 (BMP4) loss-of-function variant associated with autosomal dominant Stickler syndrome and renal dysplasia
Nixon, Thomas R W, Richards, Allan, Towns, Laura K, Fuller, Gavin, Abbs, Stephen, Alexander, Philip, McNinch, Annie, Sandford, Richard N, Snead, Martin P
Published in European journal of human genetics : EJHG (01.03.2019)
Published in European journal of human genetics : EJHG (01.03.2019)
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Journal Article
Stickler syndrome and the vitreous phenotype: mutations in COL2A1 and COL11A1
Richards, Allan J, McNinch, Annie, Martin, Howard, Oakhill, Kim, Rai, Harjeet, Waller, Sarah, Treacy, Becky, Whittaker, Joanne, Meredith, Sarah, Poulson, Arabella, Snead, Martin P
Published in Human mutation (01.06.2010)
Published in Human mutation (01.06.2010)
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Journal Article
Type I membranous anomaly in Stickler syndrome
Alexander, Philip, Poulson, Arabella, McNinch, Annie, Richards, Allan, Snead, Martin
Published in Ophthalmic genetics (02.01.2018)
Published in Ophthalmic genetics (02.01.2018)
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Journal Article
Alternative splicing modifies the effect of mutations in COL11A1 and results in recessive type 2 Stickler syndrome with profound hearing loss
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
Published in Journal of medical genetics (01.11.2013)
Published in Journal of medical genetics (01.11.2013)
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Journal Article
CLINICAL PHENOTYPES ASSOCIATED WITH TYPE II COLLAGEN MUTATIONS
Hanspal, Inderraj, McNinch, Annie, Richards, Allan, Snead, Martin
Published in Journal of paediatrics and child health (01.10.2012)
Published in Journal of paediatrics and child health (01.10.2012)
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Journal Article