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 New England journal of medicine/The New England journal of medicine (06.04.2023)
Published in New England journal of medicine/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
Prevention of Retinal Detachment in Stickler Syndrome
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
Published in Ophthalmology (01.08.2014)
Published in Ophthalmology (01.08.2014)
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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 (01.05.2012)
Published in European Journal of Human Genetics (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
Somatic mosaicism and the phenotypic expression of COL2A1 mutations
Nagendran, Sonali, Richards, Allan J., McNinch, Annie, Sandford, Richard N., Snead, Martin P.
Published in American Journal of Medical Genetics Part A (01.05.2012)
Published in American Journal of Medical Genetics Part A (01.05.2012)
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Journal Article
Legg-Calve-Perthes’ disease: an opportunity to prevent blindness?
Wang, Aijing, Nixon, Thomas, Martin, Howard, Richards, Allan, McNinch, Annie, Alexander, Philip, Pujari, Rathin, Bale, Peter, Shenker, Nicholas, Bearcroft, Philip, Brown, Senjah, Blackwell, Adrian, Poulson, Arabella, Snead, Martin
Published in Archives of disease in childhood (01.10.2023)
Published in Archives of disease in childhood (01.10.2023)
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Journal Article
Retinal detachment in Type IX collagen recessive Stickler syndrome
Maghsoudi, Daniel, Nixon, Thomas RW, Martin, Howard, Richards, Allan J, McNinch, Annie M, Alexander, Philip, Poulson, Arabella V, Snead, Martin P
Published in Eye (London) (15.10.2024)
Published in Eye (London) (15.10.2024)
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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 (01.02.2018)
Published in Ophthalmology (01.02.2018)
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Journal Article
Homozygous Type IX collagen variants (COL9A1, COL9A2, and COL9A3) causing recessive Stickler syndrome—Expanding the phenotype
Nixon, Thomas R. W., Alexander, Philip, Richards, Allan, McNinch, Annie, Bearcroft, Philip W. P., Cobben, Jan, Snead, Martin P.
Published in American journal of medical genetics. Part A (01.08.2019)
Published in American journal of medical genetics. Part A (01.08.2019)
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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
Auditory dysfunction in type 2 Stickler Syndrome
Alexander, Philip, Gomersall, Philip, Stancel-Lewis, Jack, Fincham, Gregory Scott, Poulson, Arabella, Richards, Allan, McNinch, Annie, Baguley, David M., Snead, Martin
Published in European archives of oto-rhino-laryngology (01.07.2021)
Published in European archives of oto-rhino-laryngology (01.07.2021)
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Journal Article
Use of vitreous phenotype as a key clinical marker to identify Ocular-only Stickler syndrome in a family with Marfan syndrome
Malik, Hammad, Soh, Zack, Nixon, Thomas R. W., McNinch, Annie, Richards, Allan J., Alexander, Philip, Martin, Howard, Snead, Martin P.
Published in European journal of ophthalmology (01.01.2024)
Published in European journal of ophthalmology (01.01.2024)
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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
Therapeutic and diagnostic advances in Stickler syndrome
Snead, Martin, Martin, Howard, Bale, Peter, Shenker, Nick, Baguley, David, Alexander, Philip, McNinch, Annie, Poulson, Arabella
Published in Therapeutic Advances in Rare Disease (01.01.2020)
Published in Therapeutic Advances in Rare Disease (01.01.2020)
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Book Review
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
Peripapillary Hyper-Reflective Ovoid Mass-like Structures in Stickler syndrome
Khatib, Tasneem Z, Safi, Antoine, Nixon, T R W, Georgoulas, Stylianos, Montesano, Giovanni, Martin, Howard, Richards, Allan J, McNinch, Annie, Poulson, Arabella V, Alexander, Philip, Snead, Martin P
Published in Ophthalmology retina (13.05.2024)
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Published in Ophthalmology retina (13.05.2024)
Journal Article