Zobrazeno 1 - 10
of 17
pro vyhledávání: '"Jessica C Gardner"'
Autor:
Alice E Davidson, Sek-Shir Cheong, Pirro G Hysi, Cristina Venturini, Vincent Plagnol, Jonathan B Ruddle, Hala Ali, Nicole Carnt, Jessica C Gardner, Hala Hassan, Else Gade, Lisa Kearns, Anne Marie Jelsig, Marie Restori, Tom R Webb, David Laws, Michael Cosgrove, Jens M Hertz, Isabelle Russell-Eggitt, Daniela T Pilz, Christopher J Hammond, Stephen J Tuft, Alison J Hardcastle
Publikováno v:
PLoS ONE, Vol 9, Iss 8, p e104163 (2014)
We describe novel CHRDL1 mutations in ten families with X-linked megalocornea (MGC1). Our mutation-positive cohort enabled us to establish ultrasonography as a reliable clinical diagnostic tool to distinguish between MGC1 and primary congenital glauc
Externí odkaz:
https://doaj.org/article/15c887a1f0b749fc8219f95900909adc
Autor:
Bernd, Wissinger, Britta, Baumann, Elena, Buena-Atienza, Zeinab, Ravesh, Artur V, Cideciyan, Katarina, Stingl, Isabelle, Audo, Isabelle, Meunier, Beatrice, Bocquet, Elias I, Traboulsi, Alison J, Hardcastle, Jessica C, Gardner, Michel, Michaelides, Kari E, Branham, Thomas, Rosenberg, Sten, Andreasson, Hélène, Dollfus, David, Birch, Andrea L, Vincent, Loreto, Martorell, Jaume, Català Mora, Ulrich, Kellner, Klaus, Rüther, Birgit, Lorenz, Markus N, Preising, Emanuela, Manfredini, Yuri A, Zarate, Raymon, Vijzelaar, Eberhart, Zrenner, Samuel G, Jacobson, Susanne, Kohl
Publikováno v:
Proceedings of the National Academy of Sciences of the United States of America. 119(27)
Blue cone monochromacy (BCM) is an X-linked retinal disorder characterized by low vision, photoaversion, and poor color discrimination. BCM is due to the lack of long-wavelength-sensitive and middle-wavelength-sensitive cone photoreceptor function an
Autor:
Paul Edward Sladen, Michael E. Cheetham, Amelia Lane, Alison J. Hardcastle, Daniele Ottaviani, Katarina Jovanovic, Anna Brugulat Panes, Rosellina Guarascio, Kwan L. Hau, Jessica C. Gardner
SUMMARYHuman photoreceptors maximise alternative exon splicing to generate a unique set of gene isoforms. Conversely, the inclusion of a cryptic exon caused by the c.2991+1655A>G deep intronic change in CEP290 occurs in the human retina leading to Le
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::6d6144fa0742c382c0dbfb44024fb212
https://doi.org/10.1101/2021.08.04.454918
https://doi.org/10.1101/2021.08.04.454918
Autor:
Angelos Kalitzeos, Emily J Patterson, Jessica C. Gardner, Maureen Neitz, Jay Neitz, Melissa Kasilian, Alison J. Hardcastle, Michel Michaelides, Joseph Carroll
Publikováno v:
Investigative Ophthalmology & Visual Science
Purpose To assess residual cone structure in subjects with mutations in exon 2, 3, and 4 of the OPN1LW or OPN1MW opsin. Methods Thirteen males had their OPN1LW/OPN1MW opsin genes characterized. The cone mosaic was imaged using both confocal and nonco
Autor:
Michael Gerard Ring, Robert B. Hufnagel, Robert A. Sisk, Michel Michaelides, Alison J. Hardcastle, Michael Larsen, Thomas B. Connor, Stacy A. Sjoberg, Maureen Neitz, Christopher S Langlo, Melissa Kasilian, Joseph Carroll, Angelos Kalitzeos, Alfredo Dubra, Zubair M. Ahmed, Melissa A. Wilk, James Tee, Jessica C. Gardner, Jay Neitz, Adam M. Dubis, Emily J Patterson
Publikováno v:
Investigative Ophthalmology & Visual Science
Patterson, E J, Wilk, M, Langlo, C S, Kasilian, M, Ring, M, Hufnagel, R B, Dubis, A M, Tee, J J, Kalitzeos, A, Gardner, J C, Ahmed, Z M, Sisk, R A, Larsen, M, Sjoberg, S, Connor, T B, Dubra, A, Neitz, J, Hardcastle, A J, Neitz, M, Michaelides, M & Carroll, J 2016, ' Cone photoreceptor structure in patients with x-linked cone dysfunction and red-green color vision deficiency ', Investigative Ophthalmology and Visual Science, vol. 57, no. 8, pp. 3853-3863 . https://doi.org/10.1167/iovs.16-19608
Patterson, E J, Wilk, M, Langlo, C S, Kasilian, M, Ring, M, Hufnagel, R B, Dubis, A M, Tee, J J, Kalitzeos, A, Gardner, J C, Ahmed, Z M, Sisk, R A, Larsen, M, Sjoberg, S, Connor, T B, Dubra, A, Neitz, J, Hardcastle, A J, Neitz, M, Michaelides, M & Carroll, J 2016, ' Cone photoreceptor structure in patients with x-linked cone dysfunction and red-green color vision deficiency ', Investigative Ophthalmology and Visual Science, vol. 57, no. 8, pp. 3853-3863 . https://doi.org/10.1167/iovs.16-19608
PURPOSE. Mutations in the coding sequence of the L and M opsin genes are often associated with X-linked cone dysfunction (such as Bornholm Eye Disease, BED), though the exact color vision phenotype associated with these disorders is variable. We exam
Autor:
Anthony G. Robson, Matthew O. Parker, Jessica C. Gardner, Nikolas Pontikos, Alessia Fiorentino, Kaoru Fujinami, Andrew R. Webster, Gavin Arno, Vincent Plagnol, Robert H. Henderson, Monica Armengol, Augusto Rendon, Takeshi Iwata, Tom Fowler, Takaaki Hayashi, Michael E. Cheetham, Michel Michaelides, Alison J. Hardcastle
Publikováno v:
Human mutation. 39(1)
Retinal dystrophies are a heterogeneous group of disorders of visual function leading to partial or complete blindness. We report the genetic basis of an unusual retinal dystrophy in five families with affected females and no affected males. Heterozy
Autor:
Robert A. Sisk, Alison J. Hardcastle, Samuel G. Jacobson, Robert B. Hufnagel, Michel Michaelides, Anthony T. Moore, Xunda Luo, Bernd Wissinger, Sharon B. Schwartz, Zubair M. Ahmed, Megan E. Land, Jessica C. Gardner, Joseph Carroll, Alfredo Dubra, Alexander Sumaroka, Susanne Kohl, Artur V. Cideciyan
Publikováno v:
Human gene therapy, vol 24, iss 12
Human X-linked blue-cone monochromacy (BCM), a disabling congenital visual disorder of cone photoreceptors, is a candidate disease for gene augmentation therapy. BCM is caused by either mutations in the red (OPN1LW) and green (OPN1MW) cone photorecep
Publikováno v:
South African medical journal = Suid-Afrikaanse tydskrif vir geneeskunde. 106(6 Suppl 1)
X-linked cone photoreceptor disorders caused by mutations in the OPN1LW (L) and OPN1MW (M) cone opsin genes on chromosome Xq28 include a range of conditions from mild stable red-green colour vision deficiencies to severe cone dystrophies causing prog
Autor:
Anthony T. Moore, Stephen J Tuft, Alison J. Hardcastle, Graham E. Holder, Anthony G. Robson, Jonathan B Ruddle, Sanjay M. Sisodiya, Mahinda Yogarajah, Seyhan Yazar, Wei Ang, Michael E. Cheetham, Jane C. Sowden, Chiea Chuen Khor, Elias I. Traboulsi, Tin Aung, Jessica C. Gardner, Tom R. Webb, Hala Hassan, Mar Matarin, Michel Michaelides, Daniel Kelberman, Craig E. Pennell, David A. Mackey
Publikováno v:
The American Journal of Human Genetics. 90:247-259
X-linked megalocornea (MGC1) is an ocular anterior segment disorder characterized by an increased cornea diameter and deep anterior chamber evident at birth and later onset of mosaic corneal degeneration (shagreen), arcus juvenilis, and presenile cat
Autor:
Alison J. Hardcastle, Michael Karampelas, Andrew R. Webster, Graham E. Holder, Jessica C. Gardner
Publikováno v:
Documenta Ophthalmologica. 127:245-247
48,XXYY syndrome was first described in 1964 and approximately 100 cases have been reported in the literature. We report a case of 48,XXYY syndrome associated with high myopia and retinal dysfunction. Case report. A 28-year-old man was referred with