A. McNinch

发表

Posterior Vitreous Detachment and the Posterior Hyaloid Membrane.

G. A. Limb, D. Snead, S. James, 2017, Ophthalmology.

Therapeutic and diagnostic advances in Stickler syndrome

N. Shenker, D. Baguley, A. Poulson, 2020, Therapeutic advances in rare disease.

Homozygous Type IX collagen variants (COL9A1, COL9A2, and COL9A3) causing recessive Stickler syndrome—Expanding the phenotype

P. Bearcroft, P. Alexander, J. Cobben, 2019, American journal of medical genetics. Part A.

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

A. Moore, M. Lees, B. Castle, 2013, Journal of Medical Genetics.

Somatic mosaicism and the phenotypic expression of COL2A1 mutations

R. Sandford, S. Nagendran, M. Snead, 2012, American journal of medical genetics. Part A.

Dominant Stickler Syndrome

P. Alexander, M. Snead, A. Richards, 2022, Genes.

Stickler syndrome in children: a radiological review.

N. Shenker, P. Bearcroft, N. McArthur, 2018, Clinical radiology.

Stickler syndrome, ocular-only variants and a key diagnostic role for the ophthalmologist

P. Bearcroft, P. Gomersall, B. Silverman, 2011, Eye.

Ophthalmic and molecular genetic findings in Kniest dysplasia

P. Sergouniotis, C. Spickett, A. Poulson, 2015, Eye.

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

S. Abbs, P. Vasudevan, P. Alexander, 2020, Molecular genetics & genomic medicine.

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

Basil Matta, P. Alexander, D. Stubbs, 2019, Anesthesia and analgesia.

Splicing analysis of unclassified variants in COL2A1 and COL11A1 identifies deep intronic pathogenic mutations

J. Whittaker, B. Treacy, K. Oakhill, 2011, European Journal of Human Genetics.

Legg-Calve-Perthes’ disease: an opportunity to prevent blindness?

N. Shenker, P. Alexander, P. Bearcroft, 2023, Archives of Disease in Childhood.

Stickler syndrome and the vitreous phenotype: mutations in COL2A1 and COL11A1

Howard Martin, J. Whittaker, B. Treacy, 2010, Human mutation.

Auditory dysfunction in type 2 Stickler Syndrome

D. Baguley, P. Gomersall, P. Alexander, 2020, European Archives of Oto-Rhino-Laryngology.

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

R. Sandford, S. Abbs, P. Alexander, 2018, European Journal of Human Genetics.

Deep Intronic Sequence Variants in COL2A1 Affect the Alternative Splicing Efficiency of Exon 2, and May Confer a Risk for Rhegmatogenous Retinal Detachment

A. Prescott, P. Hysi, C. Spickett, 2016, Human mutation.

Stickler syndrome – lessons from a national cohort

N. Shenker, P. Alexander, A. Poulson, 2021, Eye.

Use of vitreous phenotype as a key clinical marker to identify Ocular-only Stickler syndrome in a family with Marfan syndrome.

P. Alexander, M. Snead, A. Richards, 2023, European Journal of Ophthalmology.

Prevention of retinal detachment in Stickler syndrome: the Cambridge prophylactic cryotherapy protocol.

C. Carroll, L. Pasea, John D. Scott, 2014, Ophthalmology.

CLINICAL PHENOTYPES ASSOCIATED WITH TYPE II COLLAGEN MUTATIONS.

M. Snead, I. Hanspal, A. Richards, 2012, Journal of paediatrics and child health.

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

R. Sandford, S. Abbs, P. Alexander, 2018, European Journal of Human Genetics.