Zobrazeno 1 - 10
of 32
pro vyhledávání: '"Khanh Nhat Tran-Viet"'
Autor:
Ravikanth Metlapally, Pedro Gonzalez, Felicia A Hawthorne, Khanh-Nhat Tran-Viet, Christine F Wildsoet, Terri L Young
Publikováno v:
PLoS ONE, Vol 8, Iss 10, p e78984 (2013)
INTRODUCTION:In human eyes, ocular enlargement/growth reflects active extracellular matrix remodeling of the outer scleral shell. Micro-RNAs are small non-coding RNAs that regulate gene expression by base pairing with target sequences. They serve as
Externí odkaz:
https://doaj.org/article/baeeb739aee74c25a2b6ad834949a8b6
Autor:
Sebastian Maurer-Stroh, Steve Rozen, Terri L. Young, Candice Ho, Caldwell Powell, Khanh-Nhat Tran-Viet, Seang-Mei Saw, Tammy L. Yanovitch, Thomas Klemm, Georg Schneider, Vincent Soler, Ravikanth Metlapally, Liang Goh, Veluchamy A. Barathi, Vachiranee Limviphuvadh, Yi-Ju Li, Erica B. Nading
Publikováno v:
The American Journal of Human Genetics. 92:820-826
Myopia, or near-sightedness, is an ocular refractive error of unfocused image quality in front of the retinal plane. Individuals with high-grade myopia (dioptric power greater than −6.00) are predisposed to ocular morbidities such as glaucoma, reti
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c5bab3aab60d262e549367c345701a19
https://doi.org/10.1016/j.ajhg.2013.04.005
https://doi.org/10.1016/j.ajhg.2013.04.005
Autor:
Francesca Pasutto, Steve Rozen, Keri F. Allen, Terri L. Young, Shahrbanou Javadiyan, Tiger Zhou, Tomokazu Souma, Stuart W. Tompson, Kathryn P. Burdon, Kristina N. Whisenhunt, Simone Finzi, Khanh Nhat Tran-Viet, Shinji Yamaguchi, David A. Mackey, Jing Jin, Dimitar N. Azmanov, Sing Hui Lim, Sebastian Maurer-Stroh, Bethany A. Kloss, Alex W. Hewitt, Jonathan B Ruddle, Janey L. Wiggs, Krishnakumar Kizhatil, Jamie E Craig, Benjamin R. Thomson, Emmanuelle Souzeau, Susan E. Quaggin, Luba Kalaydjieva, Simon W. M. John, Xiaorong Liu, Vachiranee Limviphuvadh, Lucia Mauri, Owen M. Siggs, Tammy L. Yanovitch, Liang Feng
Publikováno v:
The Journal of clinical investigation. 126(7)
Primary congenital glaucoma (PCG) is a devastating eye disease and an important cause of childhood blindness worldwide. In PCG, defects in the anterior chamber aqueous humor outflow structures of the eye result in elevated intraocular pressure (IOP);
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1fdc4703ba7fd7930ce3ff130d9e61b1
https://pubmed.ncbi.nlm.nih.gov/27270174
https://pubmed.ncbi.nlm.nih.gov/27270174
Autor:
David A. Mackey, James E. Elder, Meghan J Marino, Sue Crowe, Elizabeth St.Germain, Elias I. Traboulsi, Y Perdomo-Trujillo, Terri L. Young, Glen A. Gole, Valérie Pelletier, Erica B. Nading, Khanh-Nhat Tran-Viet, Pr Hélène Dollfus, Sandra E Staffieri, Michael Haybittel, Sing-Hui Lim
Publikováno v:
Ophthalmic genetics. 35(1)
Background: The Atonal Homolog 7 (ATOH7) gene has been implicated in association studies with optic nerve head diameter size. Hence, we screened optic nerve hypoplasia (ONH) patient DNA samples from Australia, France, and the United States for sequen
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::13f24ff66697bd6c066e878ebc13168d
https://pubmed.ncbi.nlm.nih.gov/23802135
https://pubmed.ncbi.nlm.nih.gov/23802135
Autor:
Stéphane Galiacy, Vincent Soler, Isabelle Creveaux, Natalie A. Afshari, Khanh-Nhat Tran-Viet, Pierre Fournié, Weihua Meng, Steven G. Rozen, Felicia Hawthorne, J.L. Arne, Myriam Cassagne, Elizabeth St.Germain, Terri L. Young, P Calvas, Bernadette Kantelip, Céline Guillaud, Vachiranee Limviphuvadh, François Malecaze, Thomas Klemm, Sebastian Maurer-Stroh, Cyrielle Suarez, Xiaoyan Luo
Publikováno v:
Journal of medical genetics. 50(4)
Background Corneal intraepithelial dyskeratosis is an extremely rare condition. The classical form, affecting Native American Haliwa-Saponi tribe members, is called hereditary benign intraepithelial dyskeratosis (HBID). Herein, we present a new form
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b98605e9b82a80d203067ac6611a0a91
https://pubmed.ncbi.nlm.nih.gov/23349227
https://pubmed.ncbi.nlm.nih.gov/23349227
Autor:
Khanh-Nhat, Tran-Viet, Vincent, Soler, Valencia, Quiette, Caldwell, Powell, Tammy, Yanovitch, Ravikanth, Metlapally, Xiaoyan, Luo, Nicholas, Katsanis, Erica, Nading, Terri L, Young
Publikováno v:
Molecular Vision
Purpose Stickler syndrome is an arthro-ophthalmopathy with phenotypic overlap with Wagner syndrome. The common Stickler syndrome type I is inherited as an autosomal dominant trait, with causal mutations in collagen type II alpha 1 (COL2A1). Wagner sy
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::e2f42565ac4c5bd957d457fc5f51813f
https://pubmed.ncbi.nlm.nih.gov/23592912
https://pubmed.ncbi.nlm.nih.gov/23592912
Autor:
Khanh-Nhat, Tran-Viet, Elizabeth, St Germain, Vincent, Soler, Caldwell, Powell, Sing-Hui, Lim, Thomas, Klemm, Seang Mei, Saw, Terri L, Young
Publikováno v:
Molecular Vision
Purpose Myopia, or nearsightedness, is highly prevalent in Asian countries and is considered a serious public health issue globally. High-grade myopia can predispose individuals to myopic maculopathy, premature cataracts, retinal detachment, and glau
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::90af25e63b850297d7dc768c2b5dcd35
https://pubmed.ncbi.nlm.nih.gov/22539872
https://pubmed.ncbi.nlm.nih.gov/22539872
Autor:
Sandrine Paget, Ravikanth Metlapally, Patrick Calvas, François Malecaze, David A. Mackey, Jeremy A. Guggenheim, Terri L. Young, Chang-Seok Ki, Diana Abbott, Yi-Ju Li, Thomas Rosenberg, Khanh-Nhat Tran-Viet
Purpose. Evidence from human myopia genetic mapping studies (MYP3 locus), modulated animal models, and observations of glycemic control in humans suggests that insulin-like growth factor (IGF)-1 plays a role in the control of eye growth. This study w
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b9c1133c27f5006d9a75d6ca783783de
Autor:
Toby Andrew, Grant W. Montgomery, Scott D. Gordon, Jonathan B Ruddle, Stuart MacGregor, Nicholas G. Martin, Alex W. Hewitt, Jamie E Craig, Pirro G. Hysi, Anjali K. Henders, Paul G. Sanfilippo, Terri L. Young, Francis Carbonaro, Christopher J Hammond, David A. Mackey, Tim D. Spector, Sonya L Bennett, Vikas Tah, Brian P. McEvoy, Khanh-Nhat Tran-Viet, Yi-Ju Li, Nadean L. Brown, Sarah E. Medland
Publikováno v:
Human molecular genetics, vol 19, iss 13
Human Molecular Genetics
Human Molecular Genetics; Vol 19
Human Molecular Genetics
Human Molecular Genetics; Vol 19
Optic nerve assessment is important for many blinding diseases, with cup-to-disc ratio (CDR) assessments commonly used in both diagnosis and progression monitoring of glaucoma patients. Optic disc, cup, rim area and CDR measurements all show substant
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::594a57bef989b5f6bccae247af8fd642
https://escholarship.org/uc/item/294404qj
https://escholarship.org/uc/item/294404qj
Autor:
Stephan Züchner, John L. Beyer, David C. Steffens, Melissa A Gottron, Viren D Patel, Danielle Brewington, Ranga Krishnan, Gaofeng Wang, Nicole Calakos, Khanh-Nhat Tran-Viet
Publikováno v:
Journal of medical genetics. 47(9)
Background TOR1A encodes a chaperone-like AAA-ATPase whose ΔGAG (ΔE) mutation is responsible for an early onset, generalised dystonia syndrome. Because of the established role of the TOR1A gene in heritable generalised dystonia (DYT1), a potential
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b29afd7a82f9b1c025d73548520801ad
https://pubmed.ncbi.nlm.nih.gov/19955557
https://pubmed.ncbi.nlm.nih.gov/19955557