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1

Rhodopsin mutations in autosomal dominant retinitis pigmentosa

Mai Al-Maghtheh, Cheryl Gregory, Chris Inglehearn, Alison Hardcastle, Shomi Bhattacharya

Journal:

Year:

1993

Language:

english

File:

PDF, 605 KB

english, 1993

2

CRISPR/Cas9-targeted enrichment and long-read sequencing of the Fuchs endothelial corneal dystrophy–associated TCF4 triplet repeat

Hafford-Tear, Nathaniel J., Tsai, Yu-Chih, Sadan, Amanda N., Sanchez-Pintado, Beatriz, Zarouchlioti, Christina, Maher, Geoffrey J., Liskova, Petra, Tuft, Stephen J., Hardcastle, Alison J., Clark, Tyso

Journal:

Genetics in Medicine

Year:

2019

File:

PDF, 1.47 MB

2019

3

CRISPR/Cas9-targeted enrichment and long-read sequencing of the Fuchs endothelial corneal dystrophy–associated TCF4 triplet repeat

Hafford-Tear, Nathaniel J., Tsai, Yu-Chih, Sadan, Amanda N., Sanchez-Pintado, Beatriz, Zarouchlioti, Christina, Maher, Geoffrey J., Liskova, Petra, Tuft, Stephen J., Hardcastle, Alison J., Clark, Tyso

Journal:

Genetics in Medicine

Year:

2019

Language:

english

File:

PDF, 1.47 MB

english, 2019

4

Novel mutations of the RPGR gene in RP3 families

Ilaria Zito, Michael B. Gorin, Catherine Plant, Alan C. Bird, Shomi S. Bhattacharya, Alison J. Hardcastle

Journal:

Year:

2000

Language:

english

File:

PDF, 19 KB

english, 2000

5

Novel frameshift mutations in the RP2 gene and polymorphic variants

Dawn L. Thiselton, Ilaria Zito, Catherine Plant, Marcelle Jay, Shirley V. Hodgson, Alan C. Bird, Shomi S. Bhattacharya, Alison J. Hardcastle

Journal:

Year:

2000

Language:

english

File:

PDF, 18 KB

english, 2000

6

Sequence variation within the RPGR gene: Evidence for a founder complex allele

Ilaria Zito, Alex Morris, Phil Tyson, Ingrid Winship, Dianne Sharp, Dale Gilbert, Dawn L. Thiselton, Shomi S. Bhattacharya, Alison J. Hardcastle

Journal:

Year:

2000

Language:

english

File:

PDF, 66 KB

english, 2000

7

New mutations in the NHS gene in Nance–Horan Syndrome families from the Netherlands

Florijn, Ralph J, Loves, Willem, Maillette de Buy Wenniger-Prick, Liesbeth J J M, Mannens, Marcel M A M, Tijmes, Nel, Brooks, Simon P, Hardcastle, Alison J, Bergen, Arthur A B

Journal:

European Journal of Human Genetics

Year:

2006

Language:

english

File:

PDF, 125 KB

english, 2006

8

A comparison of ERG abnormalities in XLRS and XLCSNB

Keith Bradshaw, Louise Allen, Dorothy Trump, Alison Hardcastle, Nicolas George, Anthony Moore

Journal:

Documenta Ophthalmologica

Year:

2004

Language:

english

File:

PDF, 340 KB

english, 2004

9

Inactivation of the (+) gamete agglutinin during the mating-type reaction in chlamydomonas

Lutz Wiese, Alison Hardcastle, Mary Stewart

Journal:

Molecular Reproduction and Development

Year:

1984

Language:

english

File:

PDF, 536 KB

english, 1984

10

Better fingerprinting with PCR

Richard Bellamy, Chris Inglebearn, Doug Lester, Alison Hardcastle, Shomi Bhattacharya

Journal:

Trends in Genetics

Year:

1990

Language:

english

File:

PDF, 222 KB

english, 1990

11

cDNA Sequence and Gene Locus of the Human Retinal Phosphoinositide-Specific Phospholipase-Cβ4 (PLCB4)

Richard A. Alvarez, Abboud J. Ghalayini, Ping Xu, Alison Hardcastle, Shomi Bhattacharya, P.Nagesh Rao, Mark J. Pettenati, Robert E. Anderson, Wolfgang Baehr

Journal:

Year:

1995

File:

PDF, 1.08 MB

1995

12

An Integrated, Functionally Annotated Gene Map of the DXS8026–ELK1 Interval on Human Xp11.3–Xp11.23: Potential Hotspot for Neurogenetic Disorders

Dawn L. Thiselton, Jennifer McDowall, Oliver Brandau, Juliane Ramser, Fabiana d'Esposito, Shomi S. Bhattacharya, Mark T. Ross, Alison J. Hardcastle, Alfons Meindl

Journal:

Year:

2002

Language:

english

File:

PDF, 257 KB

english, 2002

13

An Integrated, Functionally Annotated Gene Map of the DXS8026–ELK1 Interval on Human Xp11.3–Xp11.23: Potential Hotspot for Neurogenetic Disorders

Dawn L. Thiselton, Jennifer McDowall, Oliver Brandau, Juliane Ramser, Fabiana d'Esposito, Shomi S. Bhattacharya, Mark T. Ross, Alison J. Hardcastle, Alfons Meindl

Journal:

Year:

2002

Language:

english

File:

PDF, 39 KB

english, 2002

14

Novel CHST6 nonsense and missense mutations responsible for macular corneal dystrophy

Mohamed F. El-Ashry, Mai M. Abd El-Aziz, Osama Shalaby, Simon Wilkins, Subathra Poopalasundaram, Michael Cheetham, Stephen J. Tuft, Alison J. Hardcastle, Shomi S. Bhattacharya, Neil D. Ebenezer

Journal:

American Journal of Ophthalmology

Year:

2005

Language:

english

File:

PDF, 138 KB

english, 2005

15

Focus on Molecules: Nyctalopin

Subathra Poopalasundaram, Lynda Erskine, Michael E. Cheetham, Alison J. Hardcastle

Journal:

Experimental Eye Research

Year:

2005

Language:

english

File:

PDF, 100 KB

english, 2005

16

Focus on Molecules: X‐linked Retinitis Pigmentosa 2 protein, RP2

R. Jane Evans, Alison J. Hardcastle, Michael E. Cheetham

Journal:

Experimental Eye Research

Year:

2006

Language:

english

File:

PDF, 97 KB

english, 2006

17

Progressive Cone and Cone-Rod Dystrophies: Phenotypes and Underlying Molecular Genetic Basis

Michel Michaelides, Alison J. Hardcastle, David M. Hunt, Anthony T. Moore

Journal:

Survey of Ophthalmology

Year:

2006

Language:

english

File:

PDF, 4.60 MB

english, 2006

18

Genomic organisation and alternative splicing of human RIM1, a gene implicated in autosomal dominant cone-rod dystrophy (CORD7)

Samantha Johnson, Stephanie Halford, Alex G Morris, Reshma J Patel, Susan E Wilkie, Alison J Hardcastle, Anthony T Moore, Kang Zhang, David M Hunt

Journal:

Year:

2003

Language:

english

File:

PDF, 739 KB

english, 2003

19

Mutations in the RP2 Gene Cause Disease in 10% of Families with Familial X-Linked Retinitis Pigmentosa Assessed in This Study

Alison J. Hardcastle, Dawn L. Thiselton, Lionel Van Maldergem, Bratin K. Saha, Marcelle Jay, Catherine Plant, Rachel Taylor, Alan C. Bird, Shomi Bhattacharya

Journal:

The American Journal of Human Genetics

Year:

1999

Language:

english

File:

PDF, 562 KB

english, 1999

20

Molecular genetic cause of X-linked retinitis pigmentosa in a Czech family

Petra Liskova, Tracy Colclough, Niki Hart-Holden, Christina F. Chakarova, Anna O’Grady, Lucie Kondrova, Pavlina Skalicka, Pavel Diblik, Alison J. Hardcastle

Journal:

Acta Ophthalmologica (Blackwell)

Year:

2011

Language:

english

File:

PDF, 214 KB

english, 2011

21

Arl3 and RP2 mediated assembly and traffic of membrane associated cilia proteins

Schwarz, Nele, Hardcastle, Alison J., Cheetham, Michael E.

Journal:

Vision Research

Year:

2012

Language:

english

File:

PDF, 262 KB

english, 2012

22

Retinal dysfunction and high myopia in association with 48,XXYY syndrome

Karampelas, Michael, Gardner, Jessica, Holder, Graham, Hardcastle, Alison, Webster, Andrew

Journal:

Documenta Ophthalmologica

Year:

2013

Language:

english

File:

PDF, 247 KB

english, 2013

23

Unfolding retinal dystrophies: a role for molecular chaperones?

Chapple, J.Paul, Grayson, Celene, Hardcastle, Alison J., Saliba, Richard S., van der Spuy, Jacqueline, Cheetham, Michael E.

Journal:

Trends in Molecular Medicine

Year:

2001

Language:

english

File:

PDF, 251 KB

english, 2001

24

Refinement of the X-linked cataract locus (CXN) and gene analysis for CXN and Nance-Horan syndrome (NHS)

Brooks, Simon, Ebenezer, Neil, Poopalasundaram, Subathra, Maher, Eamonn, Francis, Peter, Moore, Anthony, Hardcastle, Alison

Journal:

Ophthalmic Genetics

Year:

2004

Language:

english

File:

PDF, 219 KB

english, 2004

25

Further Genetic and Clinical Insights of Posterior Polymorphous Corneal Dystrophy 3

Liskova, Petra, Palos, Michalis, Hardcastle, Alison J., Vincent, Andrea L.

Journal:

JAMA Ophthalmology

Year:

2013

Language:

english

File:

PDF, 566 KB

english, 2013

26

Corneal Endothelial Findings in a Czech Patient with Compound Heterozygous Mutations in KERA

Dudakova, Lubica, Palos, Michalis, Hardcastle, Alison J., Liskova, Petra

Journal:

Ophthalmic Genetics

Year:

2014

Language:

english

File:

PDF, 246 KB

english, 2014

27

Identification of Six Novel Mutations in ZEB1 and Description of the Associated Phenotypes in Patients with Posterior Polymorphous Corneal Dystrophy 3

Evans, Cerys J., Liskova, Petra, Dudakova, Lubica, Hrabcikova, Pavlina, Horinek, Ales, Jirsova, Katerina, Filipec, Martin, Hardcastle, Alison J., Davidson, Alice E., Tuft, Stephen J.

Journal:

Annals of Human Genetics

Year:

2015

Language:

english

File:

PDF, 403 KB

english, 2015

28

Phenotype Associated with the H626P Mutation and Other Changes in the TGFBI Gene in Czech Families

Liskova, Petra, Klintworth, Gordon K., Bowling, Brandy L., Filipec, Martin, Jirsova, Katerina, Tuft, Stephen J., Bhattacharya, Shomi S., Hardcastle, Alison J., Ebenezer, Neil D.

Journal:

Ophthalmic Research

Year:

2008

Language:

english

File:

PDF, 170 KB

english, 2008

29

A Clinical and Molecular Genetic Study of Autosomal-Dominant Stromal Corneal Dystrophy in British Population

EL-Ashry, Mohamed Farouk, El-Aziz, Mai Mohamed Abd, Hardcastle, Alison J., Bhattacharya, Shomi S., Ebenezer, Neil D.

Journal:

Ophthalmic Research

Year:

2005

Language:

english

File:

PDF, 466 KB

english, 2005

30

Detailed Assessment of Renal Function in a Proband with Harboyan Syndrome Caused by a Novel Homozygous SLC4A11 Nonsense Mutation

Liskova, Petra, Dudakova, Lubica, Tesar, Vladimir, Bednarova, Vladimira, Kidorova, Jana, Jirsova, Katerina, Davidson, Alice E., Hardcastle, Alison J.

Journal:

Ophthalmic Research

Year:

2015

Language:

english

File:

PDF, 672 KB

english, 2015

31

RPGR- associated retinopathy: clinical features, molecular genetics, animal models and therapeutic options

Tee, James J L, Smith, Alexander J, Hardcastle, Alison J, Michaelides, Michel

Journal:

British Journal of Ophthalmology

Year:

2016

Language:

english

File:

PDF, 292 KB

english, 2016

32

Mutations in Collagen, Type XVII, Alpha 1 ( COL17A1 ) Cause Epithelial Recurrent Erosion Dystrophy (ERED)

Jonsson, Frida, Byström, Berit, Davidson, Alice E., Backman, Ludvig J., Kellgren, Therese G., Tuft, Stephen J., Koskela, Timo, Rydén, Patrik, Sandgren, Ola, Danielson, Patrik, Hardcastle, Alison J., G

Journal:

Year:

2015

Language:

english

File:

PDF, 790 KB

english, 2015

33

Investigation ofSLA4A3as a candidate gene for human retinal disease

Downs, Louise M., Webster, Andrew R., Moore, Anthony T., Michaelides, Michel, Ali, Robin R., Hardcastle, Alison J., Mellersh, Cathryn S.

Journal:

Journal of Negative Results in BioMedicine

Year:

2016

Language:

english

File:

PDF, 747 KB

english, 2016

34

Spectrum of Clinical Signs and Genetic Characterization of Gelatinous Drop-Like Corneal Dystrophy in a Colombian Family

Morantes, Sara, Evans, Cerys J., Valencia, Ana V., Davidson, Alice E., Hardcastle, Alison J., Ruiz Linares, Andrés, Tuft, Stephen J., Cuevas, Miguel

Journal:

Year:

2016

Language:

english

File:

PDF, 408 KB

english, 2016

35

Recessive Retinopathy Consequent on Mutant G-Protein β Subunit 3 ( GNB3 )

Arno, Gavin, Holder, Graham E., Chakarova, Christina, Kohl, Susanne, Pontikos, Nikolas, Fiorentino, Alessia, Plagnol, Vincent, Cheetham, Michael E., Hardcastle, Alison J., Webster, Andrew R., Michaeli

Journal:

JAMA Ophthalmology

Year:

2016

Language:

english

File:

PDF, 393 KB

english, 2016

36

Organization on the plasma membrane of the retinitis pigmentosa protein RP2: investigation of association with detergent-resistant membranes and polarized sorting

CHAPPLE, J. Paul, GRAYSON, Celene, HARDCASTLE, Alison J., BAILEY, Tracey A., MATTER, Karl, ADAMSON, Peter, GRAHAM, Catriona H., WILLISON, Keith R., CHEETHAM, Michael E.

Journal:

Biochemical Journal

Year:

2003

Language:

english

File:

PDF, 229 KB

english, 2003

37

Induction of photosensitivity in the Xenopus oocyte by injection of retinal mRNA

ARDEN, GEOFFREY, B., CABRERA, CASIMIRO, HARDCASTLE, ALISON J., KUNDAIKER, SATISH, MITCHELL, CLAIRE H., VOADEN, MARY J.

Journal:

Biochemical Society Transactions

Year:

1988

Language:

english

File:

PDF, 248 KB

english, 1988

38

Biallelic Mutation of ARHGEF18 , Involved in the Determination of Epithelial Apicobasal Polarity, Causes Adult-Onset Retinal Degeneration

Arno, Gavin, Carss, Keren J., Hull, Sarah, Zihni, Ceniz, Robson, Anthony G., Fiorentino, Alessia, Hardcastle, Alison J., Holder, Graham E., Cheetham, Michael E., Plagnol, Vincent, Moore, Anthony T., R

Journal:

The American Journal of Human Genetics

Year:

2017

Language:

english

File:

PDF, 1.66 MB

english, 2017

39

Arl3 and RP2 regulate the trafficking of ciliary tip kinesins

Schwarz, Nele, Lane, Amelia, Jovanovich, Katarina, Parfitt, David A., Aguila, Monica, Thompson, Clare L., da Cruz, Lyndon, Coffey, Peter J., Chapple, J.Paul, Hardcastle, Alison J., Cheetham, Michael E

Journal:

Human Molecular Genetics

Year:

2017

Language:

english

File:

PDF, 1.53 MB

english, 2017

40

Pleiotropic effect of a novel mutation in GCNT2 causing congenital cataract and a rare adult i blood group phenotype

Cheong, Sek-Shir, Hull, Sarah, Jones, Benjamin, Chana, Ravinder, Thornton, Nicole, Plagnol, Vincent, Moore, Anthony T, Hardcastle, Alison J

Journal:

Human Genome Variation

Year:

2017

Language:

english

File:

PDF, 842 KB

english, 2017

41

Arl3 and RP2 regulate the trafficking of ciliary tip kinesins

Schwarz, Nele, Lane, Amelia, Jovanovic, Katarina, Parfitt, David A., Aguila, Monica, Thompson, Clare L., da Cruz, Lyndon, Coffey, Peter J., Chapple, J. Paul, Hardcastle, Alison J., Cheetham, Michael E

Journal:

Human Molecular Genetics

Year:

2017

Language:

english

File:

PDF, 40 KB

english, 2017

42

Genotype-Phenotype Correlation for TGFBI Corneal Dystrophies Identifies p.(G623D) as a Novel Cause of Epithelial Basement Membrane Dystrophy

Evans, Cerys J., Davidson, Alice E., Carnt, Nicole, Rojas López, Karla E., Veli, Neyme, Thaung, Caroline M., Tuft, Stephen J., Hardcastle, Alison J.

Journal:

Investigative Opthalmology & Visual Science

Year:

2016

Language:

english

File:

PDF, 963 KB

english, 2016

43

Novel Retinal and Cone Photoreceptor Transcripts Revealed by Human Macular Expression Profiling

Hornan, Daniel M., Peirson, Stuart N., Hardcastle, Alison J., Molday, Robert S., Cheetham, Michael E., Webster, Andrew R.

Journal:

Investigative Ophthalmology & Visual Science

Year:

2007

Language:

english

File:

PDF, 799 KB

english, 2007

44

Residual Cone Structure in Patients With X-Linked Cone Opsin Mutations

Patterson, Emily J., Kalitzeos, Angelos, Kasilian, Melissa, Gardner, Jessica C., Neitz, Jay, Hardcastle, Alison J., Neitz, Maureen, Carroll, Joseph, Michaelides, Michel

Journal:

Investigative Opthalmology & Visual Science

Year:

2018

Language:

english

File:

PDF, 2.01 MB

english, 2018

45

Schnyder corneal dystrophy and associated phenotypes caused by novel and recurrent mutations in the UBIAD1 gene

Evans, Cerys J., Dudakova, Lubica, Skalicka, Pavlina, Mahelkova, Gabriela, Horinek, Ales, Hardcastle, Alison J., Tuft, Stephen J., Liskova, Petra

Journal:

BMC Ophthalmology

Year:

2018

Language:

english

File:

PDF, 5.50 MB

english, 2018

46

Translational Retinal Research and Therapies

Hardcastle, Alison J., Sieving, Paul A., Sahel, José-Alain, Jacobson, Samuel G., Cideciyan, Artur V., Flannery, John G., Beltran, William A., Aguirre, Gustavo D.

Journal:

Translational Vision Science & Technology

Year:

2018

Language:

english

File:

PDF, 974 KB

english, 2018

47

Posterior Polymorphous Corneal Dystrophy in Czech Families Maps to Chromosome 20 and Excludes the VSX1 Gene

Gwilliam, Rhian, Liskova, Petra, Filipec, Martin, Kmoch, Stanislav, Jirsova, Katerina, Huckle, Elizabeth J., Stables, Catherine L., Bhattacharya, Shomi S., Hardcastle, Alison J., Deloukas, Panos, Eben

Journal:

Investigative Ophthalmology & Visual Science

Year:

2005

Language:

english

File:

PDF, 233 KB

english, 2005

48

Genetic Variants Associated With Corneal Biomechanical Properties and Potentially Conferring Susceptibility to Keratoconus in a Genome-Wide Association Study

Khawaja, Anthony P., Rojas Lopez, Karla E., Hardcastle, Alison J., Hammond, Chris J., Liskova, Petra, Davidson, Alice E., Gore, Daniel M., Hafford Tear, Nathan J., Pontikos, Nikolas, Hayat, Shabina, W

Journal:

JAMA Ophthalmology

Year:

2019

Language:

english

File:

PDF, 738 KB

english, 2019

49

CUGC for posterior polymorphous corneal dystrophy (PPCD)

Davidson, Alice E., Hafford-Tear, Nathaniel J., Dudakova, Lubica, Sadan, Amanda N., Pontikos, Nikolas, Hardcastle, Alison J., Tuft, Stephen J., Liskova, Petra

Journal:

European Journal of Human Genetics

Year:

2019

File:

PDF, 449 KB

2019

50

Genetic Variants Associated With Corneal Biomechanical Properties and Potentially Conferring Susceptibility to Keratoconus in a Genome-Wide Association Study

Khawaja, Anthony P., Rojas Lopez, Karla E., Hardcastle, Alison J., Hammond, Chris J., Liskova, Petra, Davidson, Alice E., Gore, Daniel M., Hafford Tear, Nathan J., Pontikos, Nikolas, Hayat, Shabina, W

Journal:

JAMA Ophthalmology

Year:

2019

File:

PDF, 738 KB

2019

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