Zobrazeno 1 - 10
of 11
pro vyhledávání: '"Kristina N. Whisenhunt"'
Autor:
Yee-Ling Wong, Pirro Hysi, Gemmy Cheung, Milly Tedja, Quan V Hoang, Stuart W J Tompson, Kristina N Whisenhunt, Virginie J M Verhoeven, Wanting Zhao, Moritz Hess, Chee-Wai Wong, Annette Kifley, Yoshikatsu Hosoda, Annechien E G Haarman, Susanne Hopf, Panagiotis Laspas, Sonoko Sensaki, Xueling Sim, Masahiro Miyake, Akitaka Tsujikawa, Ecosse Lamoureux, Kyoko Ohno-Matsui, Stefan Nickels, Paul Mitchell, Tien-Yin Wong, Jie Jin Wang, Christopher J Hammond, Veluchamy A Barathi, Ching-Yu Cheng, Kenji Yamashiro, Terri L Young, Caroline C W Klaver, Seang-Mei Saw, Consortium of Refractive Error, Myopia (CREAM)
Publikováno v:
PLoS ONE, Vol 14, Iss 10, p e0223942 (2019)
[This corrects the article DOI: 10.1371/journal.pone.0220143.].
Externí odkaz:
https://doaj.org/article/5e5f5cc5f8d842baa426057460ab916a
Autor:
Yee-Ling Wong, Pirro Hysi, Gemmy Cheung, Milly Tedja, Quan V Hoang, Stuart W J Tompson, Kristina N Whisenhunt, Virginie Verhoeven, Wanting Zhao, Moritz Hess, Chee-Wai Wong, Annette Kifley, Yoshikatsu Hosoda, Annechien E G Haarman, Susanne Hopf, Panagiotis Laspas, Sonoko Sensaki, Xueling Sim, Masahiro Miyake, Akitaka Tsujikawa, Ecosse Lamoureux, Kyoko Ohno-Matsui, Stefan Nickels, Paul Mitchell, Tien-Yin Wong, Jie Jin Wang, Christopher J Hammond, Veluchamy A Barathi, Ching-Yu Cheng, Kenji Yamashiro, Terri L Young, Caroline C W Klaver, Seang-Mei Saw, Consortium of Refractive Error, Myopia (CREAM)
Publikováno v:
PLoS ONE, Vol 14, Iss 8, p e0220143 (2019)
PurposeTo evaluate the roles of known myopia-associated genetic variants for development of myopic macular degeneration (MMD) in individuals with high myopia (HM), using case-control studies from the Consortium of Refractive Error and Myopia (CREAM).
Externí odkaz:
https://doaj.org/article/121ef6f155d64641ba77776c548dc6b2
Autor:
Wei Jie Seow, Cheryl S Ngo, Hong Pan, Veluchamy Amutha Barathi, Stuart W Tompson, Kristina N Whisenhunt, Eranga Vithana, Yap-Seng Chong, Suh-Hang H Juo, Pirro Hysi, Terri L Young, Neerja Karnani, Seang Mei Saw
Publikováno v:
PLoS ONE, Vol 14, Iss 5, p e0214791 (2019)
ObjectivesTo assess whether epigenetic mechanisms affecting gene expression may be involved in the pathogenesis of early-onset myopia, we performed genome-wide DNA methylation analyses of umbilical cord tissues, and assessed any associations between
Externí odkaz:
https://doaj.org/article/0f9be6758d5341b3ad984e8376072768
Autor:
Terri L, Young, Kristina N, Whisenhunt, Sarah M, LaMartina, Alex W, Hewitt, David A, Mackey, Stuart W, Tompson
Publikováno v:
Investigative Opthalmology & Visual Science. 63:25
To identify the genetic basis of an unusual pediatric cortical cataract demonstrating autosomal dominant inheritance in a large European-Australian pedigree.DNA from four affected individuals were exome sequenced utilizing a NimbleGen SeqCap EZ Exome
Autor:
Nickie Stangel, Yongwook Dan, Conceição Egas, Terri L. Young, Kristina N. Whisenhunt, Jacob S Martin, Fatemeh Suri, Reza Maroofian, Samuel J Huang, Susana Carmona, Susan E. Quaggin, Tomokazu Souma, Emmanuelle Souzeau, Behzad Fallahi Motlagh, Jing Jin, Sarah M LaMartina, Nicole M Jody, Brendan M Lawson, Mehrnaz Narooie-Nejad, Heather D. Potter, Emily C. Higuchi, Owen M. Siggs, Jamie E Craig, Eduardo Silva, Vachiranee Limviphuvadh, Sebastian Maurer-Stroh, Xue Zhang, Elahe Elahi, Yasmin S. Bradfield, Maria José Simões, Evie Anagnos, Sean Martin, Stuart W. Tompson
Publikováno v:
Investigative Ophthalmology & Visual Science
Purpose Affecting children by age 3, primary congenital glaucoma (PCG) can cause debilitating vision loss by the developmental impairment of aqueous drainage resulting in high intraocular pressure (IOP), globe enlargement, and optic neuropathy. TEK h
Autor:
Simone Finzi, Janey L. Wiggs, David A. Mackey, Terri L. Young, Shahrbanou Javadiyan, Owen M. Siggs, Stuart W. Tompson, Francesca Pasutto, Xiaorong Liu, Dimitar N. Azmanov, Simon W. M. John, Yasmin S. Bradfield, Alex W. Hewitt, Kristina N. Whisenhunt, Liang Feng, Tuncer Onay, Jamie E Craig, Benjamin R. Thomson, Luba Kalaydjieva, Jing Jin, Emmanuelle Souzeau, Tammy L. Yanovitch, Krishnakumar Kizhatil, Susan E. Quaggin, Christine A Tanna, Tomokazu Souma
Publikováno v:
Journal of Clinical Investigation. 127:4421-4436
Primary congenital glaucoma (PCG) is a leading cause of blindness in children worldwide and is caused by developmental defects in 2 aqueous humor outflow structures, Schlemm’s canal (SC) and the trabecular meshwork. We previously identified loss-of
Autor:
Kristina N. Whisenhunt, Eranga N. Vithana, Neerja Karnani, Cheryl Ngo, Terri L. Young, Wei Jie Seow, Hong Pan, Stuart W. Tompson, Veluchamy A Barathi, Pirro G. Hysi, Seang-Mei Saw, Yap Seng Chong, Suh-Hang H. Juo
Publikováno v:
PLoS ONE
PLoS ONE, Vol 14, Iss 5, p e0214791 (2019)
PLoS ONE, Vol 14, Iss 5, p e0214791 (2019)
ObjectivesTo assess whether epigenetic mechanisms affecting gene expression may be involved in the pathogenesis of early-onset myopia, we performed genome-wide DNA methylation analyses of umbilical cord tissues, and assessed any associations between
Genetic variants linked to myopic macular degeneration in persons with high myopia: CREAM Consortium
Autor:
Chee Wai Wong, Yoshikatsu Hosoda, Annette Kifley, Yee Ling Wong, Susanne Hopf, Annechien E. G. Haarman, Paul Mitchell, Tien Yin Wong, Gemmy Cheung, Virginie J. M. Verhoeven, Kyoko Ohno-Matsui, Moritz Hess, Terri L. Young, Akitaka Tsujikawa, Kristina N. Whisenhunt, Seang-Mei Saw, Sonoko Sensaki, Pirro G. Hysi, Panagiotis Laspas, Stefan Nickels, Kenji Yamashiro, Masahiro Miyake, Veluchamy A Barathi, Quan V Hoang, Jie Jin Wang, Wanting Zhao, Christopher J Hammond, Ecosse L. Lamoureux, Ching-Yu Cheng, Stuart W. Tompson, Caroline C W Klaver, Milly S. Tedja, Xueling Sim
Publikováno v:
PLoS ONE
PLoS One (print), 14(8):e0220143. Public Library of Science
PLoS One, 14
PLoS One, 14, 8
PLoS ONE, Vol 14, Iss 8, p e0220143 (2019)
PLoS One (print), 14(8):e0220143. Public Library of Science
PLoS One, 14
PLoS One, 14, 8
PLoS ONE, Vol 14, Iss 8, p e0220143 (2019)
Purpose: To evaluate the roles of known myopia-associated genetic variants for development of myopic macular degeneration (MMD) in individuals with high myopia (HM), using case-control studies from the Consortium of Refractive Error and Myopia (CREAM
Autor:
Steve Rozen, Kristina N. Whisenhunt, Max Johnson, Terri L. Young, Benjamin Bakall, Vincent Soler, Edwin M. Stone, Thomas Klemm, Diana Abbott, Charles A. Johnson, Tammy L. Yanovitch, Stuart W. Tompson
Publikováno v:
Ophthalmic genetics. 38(1)
BACKGROUND: In a four-generation Caucasian family variably diagnosed with autosomal dominant (AD) Stickler or Wagner disease, commercial gene screening failed to identify a mutation in COL2A1 or VCAN. We utilized linkage mapping and exome sequencing
Autor:
Thomas Rosenberg, Stuart W. Tompson, Derek M. Pavelec, Kristina N. Whisenhunt, Terri L. Young, Bethany A. Kloss, Samuel J Huang, Krystina Quow
Publikováno v:
Kloss, B A, Tompson, S W, Whisenhunt, K N, Quow, K L, Huang, S J, Pavelec, D M, Rosenberg, T & Young, T L 2017, ' Exome Sequence Analysis of 14 Families With High Myopia ', Investigative Ophthalmology & Visual Science, vol. 58, no. 4, pp. 1982-1990 . https://doi.org/10.1167/iovs.16-20883
Investigative Ophthalmology & Visual Science
Investigative Ophthalmology & Visual Science
Purpose To identify causal gene mutations in 14 families with autosomal dominant (AD) high myopia using exome sequencing. Methods Select individuals from 14 large Caucasian families with high myopia were exome sequenced. Gene variants were filtered t
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7fca9c791b4e1b583461e1799cf44a03
https://curis.ku.dk/portal/da/publications/exome-sequence-analysis-of-14-families-with-high-myopia(44fc91b6-d4e8-4e1d-9e22-efd3ec29283d).html
https://curis.ku.dk/portal/da/publications/exome-sequence-analysis-of-14-families-with-high-myopia(44fc91b6-d4e8-4e1d-9e22-efd3ec29283d).html