Zobrazeno 1 - 7
of 7
pro vyhledávání: '"Karla E. Rojas Lopez"'
Autor:
Alison J. Hardcastle, Petra Liskova, Yelena Bykhovskaya, Bennet J. McComish, Alice E. Davidson, Chris F. Inglehearn, Xiaohui Li, Hélène Choquet, Mahmoud Habeeb, Sionne E. M. Lucas, Srujana Sahebjada, Nikolas Pontikos, Karla E. Rojas Lopez, Anthony P. Khawaja, Manir Ali, Lubica Dudakova, Pavlina Skalicka, Bart T. H. Van Dooren, Annette J. M. Geerards, Christoph W. Haudum, Valeria Lo Faro, Abi Tenen, Mark J. Simcoe, Karina Patasova, Darioush Yarrand, Jie Yin, Salina Siddiqui, Aine Rice, Layal Abi Farraj, Yii-Der Ida Chen, Jugnoo S. Rahi, Ronald M. Krauss, Elisabeth Theusch, Jac C. Charlesworth, Loretta Szczotka-Flynn, Carmel Toomes, Magda A. Meester-Smoor, Andrea J. Richardson, Paul A. Mitchell, Kent D. Taylor, Ronald B. Melles, Anthony J. Aldave, Richard A. Mills, Ke Cao, Elsie Chan, Mark D. Daniell, Jie Jin Wang, Jerome I. Rotter, Alex W. Hewitt, Stuart MacGregor, Caroline C. W. Klaver, Wishal D. Ramdas, Jamie E. Craig, Sudha K. Iyengar, David O’Brart, Eric Jorgenson, Paul N. Baird, Yaron S. Rabinowitz, Kathryn P. Burdon, Chris J. Hammond, Stephen J. Tuft, Pirro G. Hysi
Publikováno v:
Communications Biology, Vol 4, Iss 1, Pp 1-13 (2021)
Alison Hardcastle et al. report a genome-wide meta-analysis of keratoconus, a condition affecting the cornea that causes blurred vision and often leads to blindness. They identify 36 genomic regions associated with keratoconus, 31 of which are novel,
Externí odkaz:
https://doaj.org/article/6eed77457b784436985e138a87c60544
Autor:
Karla E. Rojas Lopez, Nathalie Voide, Nikolas Pontikos, Petra Liskova, Alison J. Hardcastle, Cerys J. Evans, Alice E. Davidson, Frantisek Malinka, Stephen J. Tuft, Nathaniel J. Hafford-Tear, Pavlina Skalicka, Tomas Kubena, Lubica Dudakova, Francis L. Munier, Pavel Studeny, Ales Horinek, Lucia Vanikova
Publikováno v:
Experimental Eye Research. 182:160-166
The aim of this study was to identify the molecular genetic cause of disease in posterior polymorphous corneal dystrophy (PPCD) probands of diverse origin and to assess the utility of massively parallel sequencing in the detection of ZEB1 mutations.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8e06e933ea310c5925fae1eccedea8d6
https://doi.org/10.1016/j.exer.2019.03.002
https://doi.org/10.1016/j.exer.2019.03.002
Autor:
Alice E. Davidson, Alison J. Hardcastle, Nathan J. Hafford Tear, Pirro G. Hysi, Paul J. Foster, Kay-Tee Khaw, Daniel M. Gore, Karla E. Rojas Lopez, Petra Liskova, Nikolas Pontikos, Stephen J Tuft, Christopher J Hammond, Nicholas J. Wareham, Shabina Hayat, Anthony P Khawaja
Publikováno v:
JAMA Ophthalmol
IMPORTANCE: Keratoconus is an important cause of visual loss in young adults, but little is known about its genetic causes. Understanding the genetic determinants of corneal biomechanical factors may in turn teach us about keratoconus etiology. OBJEC
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::97b8e673ad276742649b6cf4a51f2499
https://europepmc.org/articles/PMC6604088/
https://europepmc.org/articles/PMC6604088/
Autor:
Caroline Thaung, Alice E. Davidson, Stephen J. Tuft, Cerys J. Evans, Alison J. Hardcastle, Neyme Veli, Karla E. Rojas Lopez, Nicole Carnt
Publikováno v:
Investigative ophthalmologyvisual science. 57(13)
Purpose: The majority of anterior corneal dystrophies are caused by dominant mutations in TGFBI (transforming growth factor β-induced) collectively known as the epithelial-stromal TGFBI dystrophies. Most cases of epithelial basement membrane dystrop
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f272c65ef1070d658d151871971a5745
https://pubmed.ncbi.nlm.nih.gov/27737463
https://pubmed.ncbi.nlm.nih.gov/27737463
Autor:
Hardcastle, Alison J.1,2 a.hardcastle@ucl.ac.uk, Liskova, Petra1,3,4, Bykhovskaya, Yelena5,6, McComish, Bennet J.7, Davidson, Alice E.1, Inglehearn, Chris F.8, Li, Xiaohui9, Choquet, Hélène10, Habeeb, Mahmoud11,12, Lucas, Sionne E. M.7, Sahebjada, Srujana13,14, Pontikos, Nikolas1, Lopez, Karla E. Rojas1, Khawaja, Anthony P.1,2,15, Ali, Manir8, Dudakova, Lubica3, Skalicka, Pavlina4, Van Dooren, Bart T. H.11,16, Geerards, Annette J. M.17, Haudum, Christoph W.18
Publikováno v:
Communications Biology. 3/1/2021, Vol. 4 Issue 1, p1-13. 13p.
Autor:
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, Wareham, Nick, Khaw, Kay-Tee, Tuft, Stephen J., Foster, Paul J., Hysi, Pirro G.
Publikováno v:
JAMA Ophthalmology; Sep2019, Vol. 137 Issue 9, p1005-1012, 8p
Autor:
Trish Biers, Katie Stringer Clary
This book provides a comprehensive examination of death, dying, and human remains in museums and heritage sites around the world.Presenting a diverse range of contributions from scholars, practitioners, and artists, the book reminds us that death and