Molecular Basis of Pathogenic Variants in the Fibrillar Collagens

por Richards, Allan J., Snead, Martin P.
Publicado 2022

From First to Second: How Stickler’s Diagnostic Genetics Has Evolved to Match Sequencing Technologies

por Martin, Howard, Richards, Allan J., Snead, Martin P.
Publicado 2022

Autosomal Recessive Stickler Syndrome

por Nixon, Thomas R. W., Richards, Allan J., Martin, Howard, Alexander, Philip, Snead, Martin P.
Publicado 2022

Dominant Stickler Syndrome

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

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

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