Results 61 to 70 of about 97,366 (305)

Evaluation of Four Genetic Variants in Han Chinese Subjects with High Myopia

Journal of Ophthalmology, 2015
High myopia is one of the leading causes of blindness worldwide. However, the exact etiology of high myopia remains unraveled despite numerous attempts of elucidation. Previous genome-wide association study (GWAS) has revealed that four single nucleotide
Zimeng Ye, Huaichao Luo, Bo Gong, Ying Lin, Ping Shuai, Pu Wang, Changning Ye, Zhenglin Yang, Wanjun Wang, Yi Shi   +9 more
doaj   +1 more source

Magnetic Resonance Imaging of Optic Nerve Traction During Adduction in Primary Open-Angle Glaucoma With Normal Intraocular Pressure. [PDF]

, 2017
PurposeWe used magnetic resonance imaging (MRI) to ascertain effects of optic nerve (ON) traction in adduction, a phenomenon proposed as neuropathic in primary open-angle glaucoma (POAG).MethodsSeventeen patients with POAG and maximal IOP ≤ 20 mm Hg, and
Bonelli, Laura, Caprioli, Joseph, Clark, Robert A, Coleman, Anne L, Demer, Joseph L, Giaconi, JoAnn A, Law, Simon K, Nouri-Mahdavi, Kouros, Suh, Soh Youn   +8 more
core   +1 more source

A 10-year retrospective study on the prevalence and biometric characteristics of high myopia in Chinese cataract surgery candidates

Scientific Reports
To evaluate the prevalence of high myopia in Chinese cataract surgery candidates and analyse their biometric characteristics, we conducted a 10-year retrospective consecutive case series of 17,325 cataract patients (22,479 eyes) classified by axial ...
Yehui Tan, Yi Shao, Liangping Liu, Zhonggang Pei, Mengying Peng, Yuanyuan Wu, Yifang Xu, Xuan Zhou, Xiaoyu Wang   +8 more
doaj   +1 more source

Pakistan’s Nuclear Weapons Program and Implications for US National Security. [PDF]

, 2010
This article analyzes Pakistan’s nuclear weapons program and the characteristics of the environment in which the program is nested. These characteristics include Pakistan’s history of internal and external instability; nuclear saber rattling during ...
Tkacik, Michael
core   +2 more sources

Differentiating the Clinical and Variant Spectrum of Hardikar Syndrome From Other MED12‐Related Developmental Disorders

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT The rare X‐linked female‐restricted Hardikar syndrome (HDKR, OMIM # 301068) is characterized by multiple congenital anomalies including orofacial clefts, gastrointestinal, genitourinary, and cardiac anomalies, but cognitive and neurobehavioral development is rarely impaired.
Tinne Warmoeskerken, Miel Theunis, Kris Van den Bogaert, Koenraad Devriendt, Jeroen Breckpot   +4 more
wiley   +1 more source

Prevalence of refractive error in Europe: the European Eye Epidemiology (E3) Consortium [PDF]

, 2015
To estimate the prevalence of refractive error in adults across Europe. Refractive data (mean spherical equivalent) collected between 1990 and 2013 from fifteen population-based cohort and cross-sectional studies of the European Eye Epidemiology (E3 ...
Anastasopoulos, E. (Eleftherios), Bertelsen, G. (Geir), Bron, A. (Alain), Buitendijk, G.H.S. (Gabrielle), Cougnard-Grégoire, A. (Audrey), Creuzot-Garcher, C. (Catherine), Cumberland, P. (Phillippa), Dartigues, J.-F., Delcourt, C. (Cécile), Duijn, C.M. (Cornelia) van, Erke, M.G. (Maja Gran), Fletcher, A. (Astrid), Foster, P.J. (Paul J.), Gieger, C. (Christian), Hammond, C.J. (Christopher), Hofman, A. (Albert), Hogg, R. (Ruth), Höhn, R. (René), Khawaja, A.P. (Anthony P.), Klaver, C.C.W. (Caroline), Korobelnik, J.-F. (Jean-François), Kuijpers, R.W.A.M. (Robert), Luben, R.N. (Robert N.), Mahroo, O. (Omar), Meitinger, T. (Thomas), Mirshahi, A. (Alireza), Pfeiffer, N. (Norbert), Rahi, J.S. (Jugnoo), Topouzis, F. (Fotis), Verhoeven, V.J.M. (Virginie), Vingerling, J.R. (Hans), Von Hanno, T. (Therese), Williams, K.M. (Katie M.), Wolfram, C. (Christian)   +33 more
core   +1 more source

Case Report With Biallelic Variants in GCNT2 Implicates Exon 1B in Congenital Cataracts

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT GCNT2‐related cataracts is a disorder characterized by bilateral congenital cataracts (CC) of various types (with or without the adult i blood phenotype) and is caused by biallelic variants in GCNT2, which has 3 major isoforms, differentiated by alternative splicing of the first exon (known as exon 1A, B, and C).
Audrey O'Neill, Cindy Bayer, Emily McQuillen, Erica D. Smith, Meghan Towne, Dallas Reed   +5 more
wiley   +1 more source

Prevalence of myopia and vision impairment in school students in Eastern China

BMC Ophthalmology, 2020
Background Prevention of myopia has become a public health priority in China. This study is to investigate the prevalence of myopia and vision impairment, and their associated factors in school students in eastern China.
Jianyong Wang, Gui-shuang Ying, Xiaojin Fu, Ronghua Zhang, Jia Meng, Fang Gu, Juanjuan Li   +6 more
doaj   +1 more source

Genetic and Phenotypic Features of the Five Known Polyaminopathies: A Critical Narrative Review

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Polyaminopathies are a recently described family of rare genetic neurodevelopmental disorders. Polyaminopathies disrupt the biosynthesis of the primary polyamines: putrescine, spermidine, and spermine. Snyder–Robinson syndrome results from hemizygous loss‐of‐function variants in the spermine synthase (SMS) gene, resulting in decreased or ...
Elizabeth A. VanSickle, Sara M. Sarasua, Tracy Lowe, Christopher L. Farrell, Luigi Boccuto, Charles Schwartz, Anthony E. Pegg, Angela Peron, Victor Faundes, Mythily Ganapathi, Wendy K. Chung, Alban Ziegler, Floris Hofstede, Clément Prouteau, Katharina Steindl, Colleen Olson, Orrin Devinsky, Teresa L. Mastracci, Robert A. Casero Jr., Tracy Murray Stewart, Susan Gilmour, Teri Koerner, Mary Jo Kutler, Surender Rajasekaran, Julianne Michael, André S. Bachmann, Caleb P. Bupp   +26 more
wiley   +1 more source

An investigation of the myopia for future consequences theory of VMF patient behaviour on the Iowa Gambling Task: An abstract neural network simulation [PDF]

, 2005
Somatic marker theory proposes that body states act as a valence associated with potential choices based on prior outcomes; and thus aid decision-making.
Bowman, Howard, Kalidindi, Kiran, Wyble, Bradley   +2 more
core   +1 more source