Results 121 to 130 of about 22,111 (213)

WDTC1 Haploinsufficiency as a Cause of Neurodevelopmental Phenotypes

Clinical Genetics, EarlyView.
In seven individuals heterozygous for loss‐of‐function or conserved missense variants, we demonstrate that loss of WDTC1 function causes a neurodevelopmental syndrome characterized by developmental delay, intellectual disability, and seizures.
Elyssa Smith, Victor Faundes, Xiaonan Zhao, Bixia Zheng, Gang Zhang, Xiao Mao, Emily Danko, Jason Laufman, Thomas Besnard, Bertrand Isidor, Benjamin Cogné, Brynjar Örn Jensson, Telma S. Sulem, Patrick Sulem, Jill A. Rosenfeld, Daryl A. Scott   +15 more
wiley   +1 more source

Comprehensive Assessment of the KDM2B‐Associated Neurodevelopmental Disorder and the 12q24.31 Microdeletion Syndrome

Clinical Genetics, EarlyView.
We set out to characterize genotype–phenotype correlations in the recently delineated KDM2B‐associated neurodevelopmental disorder. We observe a highly penetrant CxxC domain‐related phenotype with distinct facial features supported by GestaltMatcher. In contrast, our findings point to variable expressivity and incomplete penetrance of loss‐of‐function ...
Amber S. E. van Oirsouw, Tzung‐Chien Hsieh, Martijn Koetsier, Abdulrazak Alali, Fatimah Albuainain, Elena Bacchelli, Tahsin Stefan Barakat, Yline Capri, Sandra Chantot‐Bastaraud, Valeria Capra, Deanna Alexis Carere, Emma Clement, Nour Elkhateeb, Madeleine Franchi, Jing‐Mei Li, Nicole Matthews, Vanda McNiven, Sarju G. Mehta, Masayuki Nakamura, Chanika Phornphutkul, Nicole Revencu, Marcello Scala, Natalie Shallow, Jennifer Stefanich, Marta Viggiano, Paola Visconti, Susan Walker, Federico Zara, Mariëlle Alders, Bobby P. C. Koeleman, Renske Oegema   +30 more
wiley   +1 more source

Altered Brain Network Centrality in Patients with Adult Strabismus with Amblyopia: A Resting-State Functional Magnetic Resonance Imaging (fMRI) Study. [PDF]

Med Sci Monit, 2020
Wu KR, Yu YJ, Tang LY, Chen SY, Zhang MY, Sun T, Wu SN, Yu K, Li B, Shao Y.   +9 more
europepmc   +1 more source

Story2Board: A Training‐Free Approach for Expressive Visual Storytelling

Computer Graphics Forum, EarlyView.
Abstract We present Story2Board, a training‐free framework for expressive storyboard generation from natural language. Existing methods narrowly focus on subject identity, overlooking key aspects of visual storytelling such as spatial composition, background evolution, and narrative pacing.
D. Dinkevich, M. Levy, O. Avrahami, D. Samuel, D. Lischinski   +4 more
wiley   +1 more source

Patient outcomes in KCNQ2 developmental and epileptic encephalopathy

Developmental Medicine &Child Neurology, EarlyView.
Abstract The aim of this study was to review and summarize the literature describing clinically observed or caregiver‐reported and patient‐reported KCNQ2 developmental and epileptic encephalopathy (DEE) outcomes. Three online databases and selected congress proceedings were searched (August 2023).
Grant Maclaine, Michele H. Potashman, Deepshikha Pawar, Sugandh Sharma, Katja Rudell, Jason Lerner, Vlad Coric, Anne T. Berg, John Millichap, Gil L'Italien   +9 more
wiley   +1 more source

Ophthalmological outcomes, visual perception, fine motor precision, and visual‐motor integration in children born very preterm

Developmental Medicine &Child Neurology, EarlyView.
Children born very preterm with poorer ophthalmological function at 2 years 6 months, 6 years 6 months, and 12 years showed poorer visuo‐perceptual, visual‐motor, and fine motor skills at 12 years, emphasizing the role of visual input in visual‐motor development.
Martin Johansson, Eva Larsson, Gerd Holmström, Olga Kochukhova, Lena Hellström‐Westas, Ylva F. Kaul   +5 more
wiley   +1 more source

Epidemiology of cerebral palsy in Brazil through the lens of the International Classification of Functioning, Disability and Health framework

Developmental Medicine &Child Neurology, EarlyView.
Abstract Aim To establish an overall description of people with cerebral palsy (CP) in Brazil, including the epidemiology, clinical features, functioning, and access to rehabilitation and equipment, through the lens of the International Classification of Functioning, Disability and Health (ICF) framework, using preliminary data from the Brazilian ...
Hércules Ribeiro Leite, Luana Cristina da Silva, Elton Duarte Dantas Magalhães, Israt Jahan, Nadia Badawi, Gulam Khandaker, Maysa Ferreira Martins Ribeiro, Juliana de Alcântara Moreira Pereira, Luma Sthephanine Viana Roque da Silva, Maria de las Mercedes Ruiz Brunner, Paula Silva de Carvalho Chagas   +10 more
wiley   +1 more source

Comparison of two health related quality of life questionaires in Malay children with strabismus and their parent proxy [PDF]

, 2015
Introduction: Strabismus is an eye condition associated with cosmetic, functional and psychosocial circumstances. Evaluation of Health Related Quality of Life (HRQoL) is increasingly recognized as an important factor in strabismus management and a ...
Jin Poi, Tan
core  

Clinical and genetic characterization of intellectual disability

Developmental Medicine &Child Neurology, EarlyView.
This study examines the etiological factors and comorbidities in a large cohort of Finnish patients with intellectual disability. Genetic causes—including chromosomal abnormalities and pathogenic gene variants—were more frequently identified in individuals with moderate to profound intellectual disability.
Aarni Venetvaara, Minna Kraatari‐Tiri, Jussi‐Pekka Tolonen, Marko Merikukka, IDGEN Study Group, Hannaleena Kokkonen, Teija Paakkola, Susanna Varis, Antti Dahl, Jarmo Körkkö, Jonna Komulainen‐Ebrahim, Jukka Moilanen, Johanna Uusimaa, Outi Kuismin, Elisa Rahikkala   +14 more
wiley   +1 more source

Gains beyond cosmesis: Recovery of fusion and stereopsis in adults with longstanding strabismus following successful surgical realignment

Indian Journal of Ophthalmology, 2009
We evaluated recovery of binocularity in 15 chronically strabismic, non-fusing (with neutralizing prisms) adults following successful surgical alignment. We included ≥12-year-olds, with best corrected visual acuity (BCVA) ≥20/60, and excluded
Fatima Tarannum, Amitava Abadan, Siddiqui Saba, Ashraf Mohammad   +3 more
doaj