Results 51 to 60 of about 10,769 (209)

Phenotype Expansion of Malan Syndrome: New Cases and a Review of the Literature

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Malan syndrome is an ultra‐rare overgrowth syndrome caused by pathogenic variants or deletions in nuclear factor one X (NFIX) located at 19p13.2. Here, we report a comprehensive literature review and phenotyping of known patients with Malan syndrome and present a novel cohort of eight patients.
Alex F. Nisbet, Sylvie A. Adams, Zoe S. Katz, Christal G. Delagrammatikas, Kosuke Izumi, Winifred Sigal, Kim Ventarola, Elaine H. Zackai, Julia E. Reid, Grant T. Liu, Jennifer M. Kalish   +10 more
wiley   +1 more source

Variability of fusion vergence measurements in heterophoria [PDF]

, 2016
Purpose: The aims of this study were to compare fusional vergence measurements between orthophoria, esophoria, and exophoria, and to determine the strength of correlations between fusional convergence and divergence and angle of deviation.
Costa Lança, C, Rowe, FJ
core   +1 more source

The Tutopatch® assisted surgery for complex strabismus study: TASCS‐study

Acta Ophthalmologica, EarlyView.
Abstract Purpose To investigate the efficacy of tendon elongation using bovine pericardium (Tutopatch®) in complex strabismus surgeries, with a specific focus on longer follow‐up of postoperative outcomes and patient satisfaction. Methods In this pre‐post cohort study, the records of all patients who underwent tendon elongation strabismus surgery with ...
Ires A. W. Verhees, Hinke Marijke Jellema, Anne‐Marie E. L. Langenhorst, B. Jeroen Klevering, Laurentius J. van Rijn, Annabel L. W. Groot   +5 more
wiley   +1 more source

Novel mutations expand the clinical spectrum of DYNC1H1-associated spinal muscular atrophy [PDF]

, 2015
OBJECTIVE To expand the clinical phenotype of autosomal dominant congenital spinal muscular atrophy with lower extremity predominance (SMA-LED) due to mutations in the dynein, cytoplasmic 1, heavy chain 1 (DYNC1H1) gene.
Al-Lozi, Muhammad T, Baas, Frank, Baloh, Robert H, Benatar, Michael, Calissano, Mattia, Chong, W K Kling, Cirak, Sebahattin, Connolly, Anne M, de Goede, Christian G E L, De Visser, Marianne, Fallon, Penny, Foley, A Reghan, Hadjikoumi, Irene, Hafezparast, Majid, Harms, Matthew B, Klein, Andrea, Mansour, Sahar, Manzur, Adnan Y, Martínez Arroyo, Amaia, Mcwilliam, Catherine, Mercuri, Eugenio, Muntoni, Francesco, Nixon, John, Overweg-Plandsoen, W C G Truus, Phadke, Rahul, Pitt, Matthew, Reilly, Mary M, Robb, Stephanie, Rodriguez Sanz, Aida, Rossor, Alexander M, Scoto, Mariacristina, Sewry, Caroline, Taylor, J Paul, Yang, Michele   +33 more
core   +1 more source

Causal Models as a Scientific Framework for Next‐Generation Ecosystem and Climate‐Linked Stock Assessments

Fish and Fisheries, EarlyView.
ABSTRACT Rapid changes in marine ecosystems highlight the need to account for time‐varying productivity in stock assessments used to support fisheries management. Common approaches incorporate annual variation or regressing processes such as recruitment, natural mortality, or growth on environmental variables.
J. Champagnat, C. C. Monnahan, J. Y. Sullivan, James T. Thorson, S. K. Shotwell, L. Rogers, A. E. Punt   +6 more
wiley   +1 more source

A Study Of Orbital Fractures In A Tertiary Health Care Center [PDF]

, 2007
A retrospective study of patients with orbital fractures had 48% patients in the age group of 20 – 40 years with male : female ratio of 10:1. Road traffic accidents (71.43%) were the most common cause followed by injury due to fall (20%).
Chhablani, Jay, Chowdary, Somya, Kamath, MG, Kamath, MM, Kamath, Sumana J, Pai, Shobha G   +5 more
core   +1 more source

Heroin and diplopia [PDF]

, 2005
Aims: To describe the eye misalignments that occur during heroin use and heroin detoxification and to give an overview of the management of persisting diplopia (double vision) which results from eye misalignment.
Firth, A.Y.
core   +1 more source

Congenital double elevator palsy with sensory exotropia: A unique surgical management

Journal of Ophthalmic & Vision Research, 2017
Purpose: To report a unique surgical approach for congenital double elevator palsy with sensory exotropia. Case Report: A 7-year-old boy with congenital double elevator palsy and sensory exotropia was managed surgically by Callahan's procedure with ...
R C Nagpal, Anuradha Raj, Amit Maitreya
doaj   +1 more source

Factors Influencing the Stocking of Juvenile Pikeperch (Sander lucioperca)

Fisheries Management and Ecology, EarlyView.
ABSTRACT Predator species of fish play crucial roles in ecosystem balance through top‐down control, a mechanism frequently exploited in biomanipulation to stock predator species. Juvenile pikeperch (Sander lucioperca) were stocked (n = 52,887) in spring 2023 and 2024 and autumn 2023 to compare stocking efficiency between Recirculation Aquaculture ...
Michaela Holubová, Petr Blabolil, Martin Čech, Vladislav Draštík, Jaroslava Frouzová, Luboš Kočvara, Jan Kubečka, Václav Kučera, Oleksandr Malinovskyi, Milan Muška, Marie Prchalová, Rubén Rabaneda‐Bueno, Pavel Rychtecký, Milan Říha, Zuzana Sajdlová, Michal Tušer, Mojmír Vašek, Tomáš Jůza   +17 more
wiley   +1 more source

Refractive Errors and Concomitant Strabismus in Children and Adolescents: A Hospital Based Observational Study

Delhi Journal of Ophthalmology, 2021
Purpose: To study the different types of concomitant strabismus and associated refractive errors in children and adolescents. Material & Methods: In this observational study, 178 patients aged between 4-19 yrs with concomitant strabismus of ≥ 15 Prism ...
Anupam Singh, Omna Chawla, Rupal Verma, Vartika Saxena, Ranjeeta Kumari, Nisheeta Patnaik, Barun Kumar, Devesh Kumawat   +7 more
doaj   +1 more source