Results 71 to 80 of about 130,767 (305)

ADNP‐Related Helsmoortel–Van der Aa Syndrome: A Review of the Literature and Clinical Recommendations for Assessment and Monitoring

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT ADNP‐related Helsmoortel–Van der Aa syndrome (ADNP‐related HVDAS) is a single gene form of autism spectrum disorder (ASD) caused by pathogenic sequence variants in the activity‐dependent neuroprotective protein (ADNP) gene. In addition to ASD, ADNP‐related HVDAS is associated with a wide range of cognitive, behavioral, and physical health ...
Jarrett Fastman, Ana Kolevzon, Paige Siper, Tess Levy, Jeffrey M. Saland, Yitzchak Frank, Robert Rapaport, Kayla Kupietzky, William E. Bennett Jr, Bruce Gelb, Sandra Bedrosian Sermone, Alexander Kolevzon   +11 more
wiley   +1 more source

TGFBI Gene Mutation Analysis of Clinically Diagnosed Granular Corneal Dystrophy Patients Prior to PTK: A Pilot Study from Eastern China

Scientific Reports, 2017
This study investigated the TGFBI gene mutation types in outpatients clinically diagnosed with granular corneal dystrophy (GCD) prior to phototherapeutic keratectomy (PTK), also calculated the mutation rate of subjects with normal corneas, but positive ...
Li Zeng, Jing Zhao, Yingjun Chen, Feng Zhao, Meiyan Li, Connie Chao-Shern, Tara Moore, John Marshall, Xingtao Zhou   +8 more
doaj   +1 more source

Risk factors for myopia: Putting causal pathways into a social context

, 2019
© The Editor(s) (if applicable) and The Author(s) 2020. Myopia is often described as resulting from a complex set of interactions between genetic and environmental risk factors.
Morgan, IG, French, AN, Rose, KA, Amanda N. French, Kathryn A. Rose, Ian G. Morgan   +5 more
core   +1 more source

A Novel Splice Variant in ERGIC1 Causes Arthrogryposis Multiplex Congenita—Characterization Using Urine‐Derived Cells

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Arthrogryposis multiplex congenita (AMC) is defined as the presence of joint contractures affecting at least two body regions at birth. Three different ERGIC1 variants have been reported in individuals with AMC. Here, we report on a 16‐year‐old male with a homozygous ERGIC1 c.250+1G>A variant that was classified as a variant of uncertain ...
Lauren Kerr, Paul McKay, Juliana Marulanda, Zenghui Wu, Reggie Hamdy, Sena Tavukcu, Noémi Dahan‐Oliel, Frank Rauch   +7 more
wiley   +1 more source

The association between screen time exposure and myopia in children and adolescents: a meta-analysis

BMC Public Health
This study aimed to systematically review epidemiological evidence on associations between screen time exposure and myopia in children and adolescents, and to quantitatively evaluate summary effect estimates from existing literature.
Zhiqiang Zong, Ya-Xin Zhang, Jianchao Qiao, Yuan Tian, Shao-Jun Xu   +4 more
semanticscholar   +1 more source

Control of myopia using diffusion optics spectacle lenses: 12-month results of a randomised controlled, efficacy and safety study (CYPRESS)

British Journal of Ophthalmology, 2022
Background Mutations in the L/M cone opsin gene array cause abnormally high perceived retinal contrast and the development of myopia. Environmental factors may also lead to high visual contrast and cause myopia.
Joseph M Rappon, C. Chung, Graeme Young, C. Hunt, J. Neitz, M. Neitz, T. Chalberg   +6 more
semanticscholar   +1 more source

IMI - Myopia Genetics Report [PDF]

, 2019
The knowledge on the genetic background of refractive error and myopia has expanded dramatically in the past few years. This white paper aims to provide a concise summary of current genetic findings and defines the direction where development is needed ...
CREAM Consortium, Wedenoja, Juho, Tedja, Milly S., Haarman, Annechien E. G., Kaprio, Jaakko, Meester-Smoor, Magda A.   +5 more
core   +1 more source

The 9+ month marathon: How pregnancy may have shaped human endurance capacities

The Anatomical Record, EarlyView.
Abstract Anthropology has long considered the evolution of our uniquely human endurance capacities to be the result of selection upon anatomical and physiological features imposed by the demands of thermoregulation and resource acquisition, particularly during the demands of persistence hunting. Research has focused on the anatomical changes present in
Cara Ocobock
wiley   +1 more source

Refractive outcomes and optical quality after implantation of posterior chamber phakic implantable collamer lens with a central hole (ICL V4c)

BMC Ophthalmology, 2018
Background To investigate refractive outcomes and optical quality after implantation of posterior chamber phakic implantable collamer lens with a central hole (ICL V4c) to correct high myopia. Methods Sixty seven eyes of 38 patients who underwent ICL V4c
Huamao Miao, Xun Chen, Mi Tian, Yingjun Chen, Xiaoying Wang, Xingtao Zhou   +5 more
doaj   +1 more source

Peripapillary Vascular Reactivity in Primary Open-Angle Glaucoma With High Myopia by Using Optical Coherence Tomography Angiography

Frontiers in Medicine, 2022
PurposeTo evaluate peripapillary vascular reactivity in primary open-angle glaucoma (POAG) with and without high myopia (HM) by using optical coherence tomography angiography (OCTA).MethodsThis prospective study enrolled 48 eyes with POAG, including 16 ...
Xintong Fan, Xintong Fan, Xintong Fan, Xintong Fan, Huan Xu, Huan Xu, Huan Xu, Huan Xu, Ruyi Zhai, Ruyi Zhai, Ruyi Zhai, Ruyi Zhai, Qilian Sheng, Qilian Sheng, Qilian Sheng, Qilian Sheng, Yanan Sun, Yanan Sun, Yanan Sun, Yanan Sun, Tingting Shao, Tingting Shao, Tingting Shao, Tingting Shao, Xiangmei Kong, Xiangmei Kong, Xiangmei Kong, Xiangmei Kong   +27 more
doaj   +1 more source