McNinch, Annie: search on Z-Library

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1

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

Allan J. Richards, Annie McNinch, Howard Martin, Kim Oakhill, Harjeet Rai, Sarah Waller, Becky Treacy, Joanne Whittaker, Sarah Meredith, Arabella Poulson, Martin P. Snead

Journal:

Year:

2010

Language:

english

File:

PDF, 770 KB

english, 2010

2

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

Richards, Allan J, McNinch, Annie, Whittaker, Joanne, Treacy, Becky, Oakhill, Kim, Poulson, Arabella, Snead, Martin P

Journal:

European Journal of Human Genetics

Year:

2012

Language:

english

File:

PDF, 650 KB

english, 2012

3

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

Journal:

Year:

2016

Language:

english

File:

PDF, 989 KB

english, 2016

4

Posterior Vitreous Detachment and the Posterior Hyaloid Membrane

Fincham, Gregory S., James, Sean, Spickett, Carl, Hollingshead, Michael, Thrasivoulou, Christopher, Poulson, Arabella V., McNinch, Annie, Richards, Allan, Snead, David, Limb, Gloria A., Snead, Martin

Journal:

Year:

2017

Language:

english

File:

PDF, 3.17 MB

english, 2017

5

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.

Journal:

European Journal of Human Genetics

Year:

2018

Language:

english

File:

PDF, 2.20 MB

english, 2018

6

Somatic mosaicism and the phenotypic expression of COL2A1 mutations

Sonali Nagendran, Allan J. Richards, Annie McNinch, Richard N. Sandford, Martin P. Snead

Journal:

American Journal of Medical Genetics Part A

Year:

2012

Language:

english

File:

PDF, 153 KB

english, 2012

7

Therapeutic and diagnostic advances in Stickler syndrome

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

Journal:

Therapeutic Advances in Rare Disease

Year:

2020

File:

PDF, 674 KB

2020

8

Auditory dysfunction in type 2 Stickler Syndrome

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

Journal:

European Archives of Oto-Rhino-Laryngology

Year:

2020

File:

PDF, 617 KB

2020

9

Prevention of Retinal Detachment in Stickler Syndrome

Fincham, Gregory S., Pasea, Laura, Carroll, Christopher, McNinch, Annie M., Poulson, Arabella V., Richards, Allan J., Scott, John D., Snead, Martin P.

Journal:

Year:

2014

Language:

english

File:

PDF, 1002 KB

english, 2014

10

Obituary

Fincham, Gregory S., Pasea, Laura, Carroll, Christopher, McNinch, Annie M., Poulson, Arabella V., Richards, Allan J., Scott, John D., Snead, Martin P.

Journal:

Year:

1955

Language:

english

File:

PDF, 415 KB

english, 1955

11

Type I membranous anomaly in Stickler syndrome

Alexander, Philip, Poulson, Arabella, McNinch, Annie, Richards, Allan, Snead, Martin

Journal:

Ophthalmic Genetics

Year:

2017

Language:

english

File:

PDF, 574 KB

english, 2017

12

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.

Journal:

American Journal of Medical Genetics Part A

Year:

2019

Language:

english

File:

PDF, 1.92 MB

english, 2019

13

CLINICAL PHENOTYPES ASSOCIATED WITH TYPE II COLLAGEN MUTATIONS.

Hanspal, Inderraj, McNinch, Annie, Richards, Allan, Snead, Martin

Journal:

Journal of Paediatrics and Child Health

Year:

2012

Language:

english

File:

PDF, 239 KB

english, 2012

14

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.

Journal:

Molecular Genetics & Genomic Medicine

Year:

2020

File:

PDF, 568 KB

2020

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