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
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
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
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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