Results 51 to 60 of about 1,183,313 (277)

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

Progression with myopia control spectacles: identifying predictors of response to defocus incorporated multiple segment and highly aspherical lenslets spectacles in the French myopia cohort

BMJ Open Ophthalmology
Objective To identify predictive factors of myopia progression in children wearing highly aspherical lenslets (HAL) and defocus incorporated multiple segment (DIMS) spectacles.Methods and analysis The 3-year longitudinal, retrospective real-world study ...
Jost B Jonas, Serge Resnikoff, Rupert Bourne, Alain M Bron, Nicolas Leveziel, Rime Najji, Mark Bullimore, Clément Giraud, Christine Fernandez-Maloigne   +8 more
doaj   +1 more source

Recurrent Neurodevelopmental Disorder Associated With a Dominant‐Negative TOP2B H63Y Variant

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT We describe a 7 year‐old boy with severe neurodevelopmental disorder, medically‐refractory epileptic encephalopathy, hyperkinetic movement disorder, hypotonia, cerebral and cerebellar atrophy and hypomyelination who was found to have a heterozygous de novo TOP2B NM_001330700.2:c.187C>T, p.(His63Tyr) variant.
Zong Yi Ha, Leticia Dinatto, Kirsten Meagher, Colleen Guimond, Jan M. Friedman, Peter C. Stirling, Millan S. Patel   +6 more
wiley   +1 more source

Peripheral refractive changes associated with myopia progression

, 2013
Purpose. To evaluate the changes in peripheral refraction profiles associated with myopia progression and treatment modalities used in the Cambridge Anti-Myopia Study. Methods.
Hema Radhakrishnan (470497), Theagarayan, Baskar, Rae, Sheila, Peter M. Allen (2213524), O'Leary, Daniel J.,, Holly C. Price (16652700), Sailoganathan, Ananth, Calver, Richard I., Richard I. Calver (16652694), Allen, Peter M., O'Leary, Daniel J., Calver, Richard I.,, Radhakrishnan, Hema; id_orcid, Radhakrishnan, Hema,, Allen, Peter M.,, Baskar P. Theagarayan (16652697), Price, Holly, Sheila Rae (16652703), Rae, Sheila,, Theagarayan, Baskar,, Daniel J. O'Leary (2313982), Sailoganathan, Ananth,, Ananth Sailoganathan (16652706), Price, Holly,   +23 more
core   +4 more sources

Factors protecting against progression of myopia in school students exposed to societal change in Vietnam: a 3-year cohort study

BMJ Open
Objectives To elucidate the incidence of myopia, progression of refractive error, axial length (AL) elongation and factors associated with myopia in secondary school students in Vietnam.Design Prospective cohort study.Settings Hue Healthy Adolescent ...
Kyoko Ohno-Matsui, Keiko Nakamura, Kaoruko Seino, Xuan Minh Tri Tran, Hoang Thuy Linh Nguyen, Thao Vi Tran, Tae Igarashi-Yokoi, Thang Van Vo   +7 more
doaj   +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

Artificial intelligence and digital solutions for myopia

Taiwan Journal of Ophthalmology, 2023
Myopia as an uncorrected visual impairment is recognized as a global public health issue with an increasing burden on health-care systems. Moreover, high myopia increases one's risk of developing pathologic myopia, which can lead to irreversible visual ...
Yong Li, Michelle Y T. Yip, Daniel S W. Ting, Marcus Ang   +3 more
doaj   +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

Getting (un)wasted: How planning failures generate consumer waste across resources: Time, money, goods, and energy

Consumer Psychology Review, EarlyView.
Abstract Past research suggests that people exhibit robust waste aversion. However, many consumers routinely feel that they waste not only goods but also time, money, energy, and emotion and would be hard‐pressed to imagine their lives otherwise. Why does consumer waste persist? In this paper, we first propose a definition for consumer waste.
Marissa A. Sharif, Cait Lamberton
wiley   +1 more source

Myopia progression as a function of sex, age, and ethnicity

, 2021
PURPOSE. To model juvenile-onset myopia progression as a function of race/ethnicity, age, sex, parental history of myopia, and time spent reading or in outdoor/sports activity. METHODS.
CLEERE Study Group, Lisa A. Jones-Jordan, J. Daniel Twelker, Ruth E. Manny, null null, Robert N. Kleinstein, Donald O. Mutti, Loraine T. Sinnott, Karla Zadnik, Raymond H. Chu, Susan A. Cotter   +10 more
core   +1 more source