Dominant Stickler Syndrome

por Soh, Zack, Richards, Allan J., McNinch, Annie, Alexander, Philip, Martin, Howard, Snead, Martin P.
Publicado 2022

Therapeutic and diagnostic advances in Stickler syndrome

por Snead, Martin, Martin, Howard, Bale, Peter, Shenker, Nick, Baguley, David, Alexander, Philip, McNinch, Annie, Poulson, Arabella
Publicado 2020

Inherited and de novo biallelic pathogenic variants in COL11A1 result in type 2 Stickler syndrome with severe hearing loss

por Nixon, Thomas, Richards, Allan J., Lomas, Adrian, Abbs, Stephen, Vasudevan, Pradeep, McNinch, Annie, Alexander, Philip, Snead, Martin P.
Publicado 2020

Stickler Syndrome: Airway Complications in a Case Series of 502 Patients

por Zimmermann, Julia, Stubbs, Daniel J., Richards, Allan J., Alexander, Philip, McNinch, Annie M., Matta, Basil, Snead, Martin P.
Publicado 2019

Auditory dysfunction in type 2 Stickler Syndrome

por Alexander, Philip, Gomersall, Philip, Stancel-Lewis, Jack, Fincham, Gregory Scott, Poulson, Arabella, Richards, Allan, McNinch, Annie, Baguley, David M., Snead, Martin
Publicado 2020

Bone morphogenetic protein 4 (BMP4) loss-of-function variant associated with autosomal dominant Stickler syndrome and renal dysplasia

por Nixon, Thomas R. W., Richards, Allan, Towns, Laura K., Fuller, Gavin, Abbs, Stephen, Alexander, Philip, McNinch, Annie, Sandford, Richard N., Snead, Martin P.
Publicado 2018

Alternative splicing modifies the effect of mutations in COL11A1 and results in recessive type 2 Stickler syndrome with profound hearing loss

por 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
Publicado 2013