Results 161 to 170 of about 791,066 (257)

Long‐Term Follow Up of Two Patients With Variants in the Cluster 1031‐1159 of TRRAP Gene: Expanding the Phenotype of Developmental Delay With or Without Dysmorphic Facies and Autism

American Journal of Medical Genetics Part A, Volume 200, Issue 9, Page 2099-2105, September 2026.
ABSTRACT The transformation/transcription domain‐associated protein (TRRAP) gene encodes a large multidomain protein, a member of the phosphatidylinositol 3‐kinase‐related kinase (PIKK) family. TRRAP is a component of the histone acetyltransferase (HAT) complex, and it plays an important role in gene transcription, DNA repair, and cell‐cycle regulation.
Roseli Maria Zechi‐Ceide, Vinicius Contrucci Dantas Segarra, Siulan Vendramini‐Pittoli, Henrique Regonaschi Serigatto, Luiza Virmond, Heloisa Marcelina da Cunha Palhares, Fernanda Jehee, Ana Cristina Victorino Krepischi, Carla Rosenberg, Carlos Henrique Paiva Grangeiro, Nancy Mizue Kokitsu‐Nakata   +10 more
wiley   +1 more source

Clinical, Behavioral and Neuroradiological Phenotype in an Italian Cohort of Patients With Xia Gibbs Syndrome: A Multicenter Cross‐Sectional Study and Systematic Literature Review

American Journal of Medical Genetics Part A, Volume 200, Issue 9, Page 2067-2079, September 2026.
ABSTRACT Heterozygous variants in the AHDC1 gene are associated with Xia Gibbs Syndrome (XGS), a genetic disorder with a highly variable phenotype. Cognitive impairment, motor delay, language delay, neonatal hypotonia, and sleep apnea are considered “cardinal” signs of the disease.
Giulia Cinelli, Stefania Della Vecchia, Patrizia Bergonzini, Elisa Caramaschi, Elisabetta Spezia, Claudia Parenti, Simona Filomena Madeo, Laura Lucaccioni, Cavalleri Francesca, Marisa Pugliese, Federico Raviglione, Clara Colonna, Olga Calabrese, Ilaria Stanghellini, Maria Carmen Marongiu, Enrico Biagioni, Anna Rita Ferrari, Roberta Battini, Lorenzo Iughetti   +18 more
wiley   +1 more source

Beyond Screen Time: A Measurement Framework for Behavioral Exposures in Childhood Myopia. [PDF]

Life (Basel)
Park JJ, Yeo GE, Kim Y, Kim J.
europepmc   +1 more source

Low‐Dose Atropine for Myopia Control in Children: A Comprehensive Review With Indian Evidence

Eye &ENT Research, Volume 3, Issue 3, Page 118-124, September 2026.
ABSTRACT Myopia is an increasingly prevalent public health concern in India, particularly among school‐aged children in urban and academically demanding environments. Early‐onset myopia is associated with rapid progression and an increased lifetime risk of vision‐threatening complications such as retinal detachment, myopic maculopathy, glaucoma, and ...
Ragni Kumari
wiley   +1 more source

Myopia prevalence and risk factors in children

, 2018
Christos Theophanous,1 Bobeck S Modjtahedi,2,3 Michael Batech,4 David S Marlin,1 Tiffany Q Luong,4 Donald S Fong2–4 1Department of Ophthalmology, Southern California Medical Group, Los Angeles, CA, USA; 2Department of Ophthalmology, Southern ...
Theophanous C, Fong DS, Luong TQ, Batech M, Modjtahedi BS, Marlin DS   +5 more
core  

Parental knowledge-attitude-practice profiles in childhood myopia: a comprehensive evaluation integrated with clinical findings. [PDF]

Graefes Arch Clin Exp Ophthalmol
Parca O, Akyol T, Bahar A, Seker-Un E, Abadanoglu ZN.   +4 more
europepmc   +1 more source

Taurine and Metabolic Diseases: Molecular Mechanisms and Therapeutic Implications

Food Frontiers, Volume 7, Issue 5, September 2026.
The dietary sources of taurine, as well as its protective effects and mechanisms in metabolism‐related diseases and metabolic disorder–associated ocular and cerebral injuries. ABSTRACT Taurine (Tau) is a sulfur‐containing amino acid prevalent in animal tissues and primarily acquired through dietary sources.
Xiaojie Ma, Zhijian Rao, Lifang Zheng
wiley   +1 more source

Atropine Eye Drops in Childhood Myopia Control: A Review. [PDF]

Int J Med Sci
Zhu Q, Chen Y, Li X, Xue L, Zhang X, Zhou G, Zhou Y, Zhang J, Wilde A, Zhu Y, Li Y.   +10 more
europepmc   +1 more source

Partnerships for Social Cohesion and Social Impact: How Corporate‐Community Co‐Development Constitutes an Impactful HR Initiative

Human Resource Management, Volume 65, Issue 5, Page 1407-1427, September/October 2026.
ABSTRACT Organizational scholars have begun to recognize the importance of social cohesion, but we know little about how it can lead to broader social impact, and even less about the role of human resource management (HRM) in these processes. To investigate this link, we examined corporate community co‐development as a particularly impactful HRM ...
Cristina B. Gibson, Jennifer Gibbs, Nitzan Navick, Kimberly McGinnis   +3 more
wiley   +1 more source

A Narrative Review of Childhood Myopia Management Across the NHS and Private Sector in the UK. [PDF]

Cureus
Khalid H, Abbasi M, Mohyudin M.
europepmc   +1 more source