Poulson, Arabella V.: search on Z-Library

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1

High efficiency of mutation detection in type 1 stickler syndrome using a two-stage approach: vitreoretinal assessment coupled with exon sequencing for screening COL2A1

Allan J. Richards, Maureen Laidlaw, Joanne Whittaker, Becky Treacy, Harjeet Rai, Philip Bearcroft, David M. Baguley, Arabella Poulson, Alan Ang, John D. Scott, Martin P. Snead

Journal:

Year:

2006

Language:

english

File:

PDF, 446 KB

english, 2006

2

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

3

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

4

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

5

Missense and silent mutations in COL2A1 result in Stickler syndrome but via different molecular mechanisms

Allan J. Richards, Maureen Laidlaw, Sarah P. Meredith, Pallavi Shankar, Arabella V. Poulson, John D. Scott, Martin P. Snead

Journal:

Year:

2007

Language:

english

File:

PDF, 412 KB

english, 2007

6

Author reply

Martin P. Snead, John D. Scott, Alan Ang, Arabella V. Poulson, Sandy F. Goodburn, Allan J. Richards

Journal:

Year:

2008

Language:

english

File:

PDF, 66 KB

english, 2008

7

Retinal Detachment and Prophylaxis in Type 1 Stickler Syndrome

Alan Ang, Arabella V. Poulson, Sandy F. Goodburn, Allan J. Richards, John D. Scott, Martin P. Snead

Journal:

Year:

2008

Language:

english

File:

PDF, 504 KB

english, 2008

8

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

9

Vitreous phenotype: A key diagnostic sign in Stickler syndrome types 1 and 2 complicated by double heterozygosity

Alan Ang, Tsiang Ung, Narman Puvanachandra, Louise Wilson, Frances Howard, Michael Ryalls, Allan Richards, Sarah Meredith, Maureen Laidlaw, Arabella Poulson, John Scott, Martin Snead

Journal:

American Journal of Medical Genetics Part A

Year:

2007

Language:

english

File:

PDF, 166 KB

english, 2007

10

Re: Baumgarten et al.: Vitrectomy with and without encircling band for pseudophakic retinal detachment with inferior breaks: VIPER Study Report No. 3. Graefes Arch Clin Exp Ophthalmol. 2018 Nov;256(11):2069–2073. doi: 10.1007/s00417-018-4106-6. Epub 2018 Aug 23

Grassi, Piergiacomo, Alexander, Philip, Poulson, Arabella V., Snead, Martin P.

Journal:

Graefe's Archive for Clinical and Experimental Ophthalmology

Year:

2019

Language:

english

File:

PDF, 143 KB

english, 2019

11

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.

Journal:

Investigative Ophthalmology & Visual Science

Year:

2005

Language:

english

File:

PDF, 282 KB

english, 2005

12

Clinicopathologic Correlation of Lens Epithelial Metaplasia and Late Intraocular Lens Dislocation After Repair of Retinal Detachment

Heng, Ling Zhi, Sandhu, Ranjit, Snead, D. R. J., Poulson, Arabella, Snead, Martin

Journal:

JAMA Ophthalmology

Year:

2016

Language:

english

File:

PDF, 275 KB

english, 2016

13

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

14

Single-Port Vitrectomy and “Oleodelamination” for the Management of Retinal Detachment Complicated by Proliferative Vitreoretinopathy

Svasti-Salee, Carl R., Dawkins, Rosie C. H., Poulson, Arabella V., Snead, Martin P.

Journal:

Year:

2017

Language:

english

File:

PDF, 313 KB

english, 2017

15

An Autosomal Dominant Bull’s-Eye Macular Dystrophy (MCDR2) that Maps to the Short Arm of Chromosome 4

Michaelides, Michel, Johnson, Samantha, Poulson, Arabella, Bradshaw, Keith, Bellmann, Caren, Hunt, David M., Moore, Anthony T.

Journal:

Investigative Ophthalmology & Visual Science

Year:

2003

Language:

english

File:

PDF, 291 KB

english, 2003

16

Retinal detachment in severe myopia

Dragoumis, Ioannis, Richards, Allan, Alexander, Philip, Poulson, Arabella, Snead, Martin

Journal:

Year:

2017

Language:

english

File:

PDF, 49 KB

english, 2017

17

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

18

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

19

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

20

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

21

High efficiency of mutation detection in type 1 Stickler syndrome using a two-stage approach: vitreoretinal assessment coupled with exon sequencing for screening COL2A1

Allan J. Richards, Maureen Laidlaw, Joanne Whittaker, Becky Treacy, Harjeet Rai, Philip Bearcroft, David M. Baguley, Arabella Poulson, Alan Ang, John D. Scott, Martin P. Snead

Journal:

Year:

2006

Language:

english

File:

PDF, 89 KB

english, 2006

22

A SIMPLE, INEXPENSIVE LASSO FOR INTRAOCULAR FOREIGN BODY EXTRACTION

Chronopoulos, Argyrios, Fallico, Matteo, Poulson, Arabella V., Snead, Martin P.

Journal:

Year:

2018

Language:

english

File:

PDF, 199 KB

english, 2018

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