Results 111 to 120 of about 17,432 (229)

USP34 Haploinsufficiency as a Cause of Neurodevelopmental Phenotypes

Clinical Genetics, Volume 110, Issue 3, Page 315-324, September 2026.
Heterozygous loss‐of‐function variants in USP34 cause a novel neurodevelopmental disorder characterized by global developmental delay, speech impairment, autism, hypotonia, craniofacial dysmorphism, and distal limb anomalies. Disrupted Wnt/β‐catenin signaling via reduced Axin stabilization refines gene‐specific contributions within 2p15p16.1 ...
Helena Wigoda, Amjad Khan, Bryce A. Mendelsohn, Noriko Miyake, Nobuhiko Okamoto, Naomichi Matsumoto, Patricia J. C. Knijnenburg, Johanna M. van Hagen, Jiddeke van de Kamp, Quinten Waisfisz, Bryn D. Webb   +10 more
wiley   +1 more source

Types of refractive errors in a sample of Iraqi children with Intermittent exotropia [version 5; peer review: 1 approved, 2 approved with reservations, 2 not approved]

F1000Research
Background One of the most common strabismus types in children is intermittent exotropia (IXE), which predominantly occurs in children between the ages of 2-4 years. It may affect visual development and often coexists with refractive errors.
Najah K. Mohammad, Ibrahim Ali Rajab
doaj   +1 more source

Neurodevelopmental Phenotypes and Brain Anomalies in Individuals With Heterozygous SEMA6A Variants

Clinical Genetics, Volume 110, Issue 3, Page 325-335, September 2026.
SEMA6A plays a role in cell migration and axon guidance in the developing central nervous system. Phenotypes seen in eleven individuals heterozygous for SEMA6A variants included developmental delay, intellectual disability, autism/autistic behaviors, behavioral abnormalities, attention disorders, hypotonia, and brain anomalies.
Evan Burchfiel, Xiaonan Zhao, Nichole M. Owen, Tia Gordon, Mahshid S. Azamian, Eric C. Kao, Fan Xia, Xi Luo, Jill A. Rosenfeld, Seema R. Lalani, Allison P. Ortega, Steven B. Bleyl, Florence Petit, Sulekha Rajagopolan, Bénédicte Demeer, Meredith K. Gillespie, Lijia Huang, Matthew Osmond, Kym M. Boycott, Kyra E. Stuurman, Marjon A. van Slegtenhorst, Haley Soller, Céline Jost, Aurore Garde, Hana Safraou, Laurence Faivre, Victor Faundes, Daryl A. Scott   +27 more
wiley   +1 more source

Diagnostic Yield and Clinical Impact of Comprehensive WES/WGS Testing Beyond Common Genetic Causes in Hereditary Optic Atrophy

Clinical Genetics, Volume 110, Issue 3, Page 336-346, September 2026.
Opticus atrophy—Genetic testing with WES/WGS in 62 patients with optic atrophy provided a genetic diagnosis in 21 patients (33.9%). 42.9% of these involved non‐OPA1 genes, including WFS1, ACO2, NR2F1, UCHL1, CACNA1F, and COQ2, where the genetic diagnosis prompted additional clinical evaluation, surveillance, or therapeutic intervention.
Katrine M. Johannesen, Karen Grønskov, Line Kessel, Sarah Linea von Holstein, Lisbeth Birk Møller, Mette Kjøbæk Gundestrup Andersen, Marianne Søndergaard Khinchi, Steffen Hamann, Marianne Wegener, Mette Bertelsen   +9 more
wiley   +1 more source

Association of ADHD and LD with vision abnormalities among the children and adolescents in US, NHANES 1999–2004

Frontiers in Neurology
ObjectiveTo examine the association of ADHD and LD with visual impairment, uncorrected refractive error, and refractive error (myopia, hyperopia, and astigmatism) among US children and adolescents.MethodA population-based cross-sectional study included 3,
Jiamin Lu, Kefan Zhou, Yingyu Liang, Yingyu Liang, Qishan Li, Jiawen Zhong, Xia Zeng, Tianran Shen, Chongzhen Sun, Xinping Yu, Jinhua Lu, Wenhan Yang, Wenhan Yang   +12 more
doaj   +1 more source

Prone Positioning–Associated Anisocoria: A Diagnostic Pitfall in Critical Care

Eye &ENT Research, Volume 3, Issue 3, Page 175-178, September 2026.
Saim Mahmood Khan, Zarnab Saleem, Mehwish Hayat, Anoosha Minhas, Aisha Tariq Khan, Surraiya Riaz Mahmood Khan   +5 more
wiley   +1 more source

Effect of artificial gravity on calcaneal bone marrow adipose tissue and mineral content in female and male participants in 60 days of bed rest

Experimental Physiology, Volume 111, Issue 9, Page 4140-4152, 1 September 2026.
Abstract Modulation of bone marrow adipose tissue (BMAT) with prolonged inactivity was reported in haemopoietic but not in non‐haemopoietic bones. This prospective randomized controlled trial submitted 16 men and 8 women to 60 days of 6° head‐down‐tilt bed rest.
Tammy Liu, Gerd Melkus, Tim Ramsay, Alain Berthiaume, Gabriele Armbrecht, Guy Trudel   +5 more
wiley   +1 more source

Refractive errors and the uniform patient fee scheme at a public hospital in South Africa

African Vision and Eye Health
Background: Uniform Patient Fee Scheme (UPFS) refers to the healthcare subsidy levels provided by public hospitals in South Africa. Such subsidies indirectly reflect socio-economic factors and thus potentially might impact upon distributions of ...
Khisimusi D. Maluleke, Nabeela Hasrod, Alan Rubin   +2 more
doaj   +1 more source

Could personality traits modify the response to uncorrected high hyperopia?

, 2005
Purpose: We aimed to measure temperament and investigate personality in children with high hyperopia considering that these could modify the individual response to uncorrected high hyperopia.
Kesikci, H, Aydin, C, Uretmen, O, Kose, S, Pamukcu, K, Erermis, S   +5 more
core   +1 more source

Women in space: A review of known physiological adaptations and health perspectives

Experimental Physiology, Volume 111, Issue 9, Page 3944-3967, 1 September 2026.
Abstract Exposure to the spaceflight environment causes adaptations in most human physiological systems, many of which are thought to affect women differently from men. Since only 11.5% of astronauts worldwide have been female, these issues are largely understudied.
Millie Hughes‐Fulford, Danielle J. Carroll, Heather C. M. Allaway, Bonnie J. Dunbar, Aenor J. Sawyer   +4 more
wiley   +1 more source