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)
Get full text
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)
Get full text
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)
Get full text
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)
Get full text
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)
Get full text
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)
Get full text
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)
Get full text
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)
Get full text
Journal Article