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)
Get full text
Journal Article
Autosomal Recessive Stickler Syndrome
Nixon, Thomas R. W., Richards, Allan J., Martin, Howard, Alexander, Philip, Snead, Martin P.
Published in Genes (24.06.2022)
Published in Genes (24.06.2022)
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
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)
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
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
Genome-wide association study identifies genetic risk underlying primary rhegmatogenous retinal detachment
Kirin, Mirna, Chandra, Aman, Charteris, David G, Hayward, Caroline, Campbell, Susan, Celap, Ivana, Bencic, Goran, Vatavuk, Zoran, Kirac, Iva, Richards, Allan J, Tenesa, Albert, Snead, Martin P, Fleck, Brian W, Singh, Jaswinder, Harsum, Steven, Maclaren, Robert E, den Hollander, Anneke I, Dunlop, Malcolm G, Hoyng, Carel B, Wright, Alan F, Campbell, Harry, Vitart, Veronique, Mitry, Danny
Published in Human molecular genetics (01.08.2013)
Published in Human molecular genetics (01.08.2013)
Get full text
Journal Article
Stickler syndrome: further mutations in COL11A1 and evidence for additional locus heterogeneity
Martin, S, Richards, A J, Yates, J R, Scott, J D, Pope, M, Snead, M P
Published in European journal of human genetics : EJHG (01.10.1999)
Published in European journal of human genetics : EJHG (01.10.1999)
Get full text
Journal Article
Clinical characterisation and molecular analysis of Wagner syndrome
Meredith, Sarah P, Richards, Allan J, Flanagan, Declan W, Scott, John D, Poulson, Arabella V, Snead, Martin P
Published in British journal of ophthalmology (01.05.2007)
Published in British journal of ophthalmology (01.05.2007)
Get full text
Journal Article
A Novel Mutation of COL2A1 Resulting in Dominantly Inherited Rhegmatogenous Retinal Detachment
Richards, Allan J, Meredith, Sarah, Poulson, Arabella, Bearcroft, Philip, Crossland, Graeme, Baguley, David M, Scott, John D, Snead, Martin P
Published in Investigative ophthalmology & visual science (01.02.2005)
Published in Investigative ophthalmology & visual science (01.02.2005)
Get full text
Journal Article