Results 71 to 80 of about 77,565 (310)

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

Review of the Molecular and Developmental Basis of Myhre Syndrome, Bench Research

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Myhre syndrome (MS) is a connective‐tissue disorder within the acromelic dysplasia spectrum. It is characterized by congenital craniofacial, skeletal, cutaneous anomalies, respiratory, cardiovascular along with intellectual disability, deafness, and progressive fibrosis.
Camille Viaut, Valerie Cormier‐Daire
wiley   +1 more source

Data on assessment of safety and tear proteome change in response to orthokeratology lens – Insight from integrating clinical data and next generation proteomics

Data in Brief, 2020
Breath-O™ Correct Ortho-K lenses are newly designed ortho-K lenses which are made from a silicon and fluoride containing methacrylate compound. This compound is said to be more flexible, durable and less likely to break compared to traditional Ortho-K ...
Jimmy Sung-Hei Tse, Thomas Chuen Lam, Jimmy Ka-Wai Cheung, Ying-Hon Sze, Tsz-King Wong, Henry Ho-Lung Chan   +5 more
doaj   +1 more source

Long-term myopia control effect and safety in children wearing DIMS spectacle lenses for 6 years

Scientific Reports, 2023
This study evaluated the long-term myopia control effect and safety in children wearing Defocus Incorporated Multiple Segments (DIMS) spectacle lenses.
Carly Siu Yin Lam, Wing Chun Tang, Han Yu Zhang, Paul H. Lee, Dennis Yan Yin Tse, Hua Qi, Natalia Vlasak, Chi Ho To   +7 more
doaj   +1 more source

The role of astigmatism in myopia development, myopia progression and myopia control

Ophthalmic and Physiological Optics
Abstract Aims/Purpose Myopia arises primarily due to excessive axial elongation and is associated with an increased risk of ocular complications and visual impairment, particularly in high myopia.
Stephanie Kearney, Rakhee Shah, Natalia Vlasak   +2 more
openaire   +4 more sources

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

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

Ocular biometric parameter characteristics and influence on refractive power in Chinese children [PDF]

International Journal of Ophthalmology
AIM: To analyze ocular parameters and refractive status in children aged 3-12y and to explore differences in these parameters across age groups with identical refractive status for studying refractive progression.
Chao-Ying Ye, Yu-Jia Liu, Wen-Qian Xing, Jian-Min Shang, Yang-Fan Xu, Xiao-Mei Qu   +5 more
doaj   +1 more source

Myopia Index

, 2009
Google Earth is a vision device that operates in the tension between two sets of eyes: vertical and horizontal. The vertical eye locates the observer outside the lived area in a privileged point, far from everyday life.
Coelho, Wellington Cançado, Marquez, Renata Moreira   +1 more
core   +1 more source

Comparative analysis of TP53 gene in Tupaia belangeri subspecies (Tupaia belangeri yaoshanensis vs. Tupaia belangeri chinensis) and identification of mutations in spontaneous tumor cases

Animal Models and Experimental Medicine, EarlyView.
This study provides the first evidence of natural TP53 variation between tree shrew subspecies and identifies somatic TP53 mutations in spontaneous tree shrew sarcomas. The high structural and functional conservation of tree shrew p53 with humans supports its utility as a relevant model for TP53‐related cancer research.
Yingying Cao, Haibo Tang, Liang Liang, Jing Leng, Weijian Huang   +4 more
wiley   +1 more source