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
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
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
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
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
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