Results 251 to 260 of about 97,306 (377)

Ocular Findings as the Most Striking Manifestation of a SMAD3 Variant

American Journal of Medical Genetics Part A, Volume 197, Issue 10, October 2025.
ABSTRACT Loeys‐Dietz syndrome (LDS) is a heritable connective tissue disorder with variable expressivity. It is a multisystemic condition mainly characterized by a propensity for arterial aneurysms and dissections, skeletal manifestations, hypertelorism, bifid uvula, craniosynostosis, and cutaneous features.
Noémie Villeneuve‐Cloutier, Christie A Boswell‐Patterson, Lucas Bronicki, Krista M. Vincent, Kalin Wilk, Andrea C. Yu, Gail E. Graham, Julie Richer   +7 more
wiley   +1 more source

Analysis of Strabismus Surgical Outcomes: A Retrospective Study of 2269 Cases from a Single Center. [PDF]

Med Sci Monit
Wu H, Liu H.
europepmc   +1 more source

Severe Nerve Enlargement in SOS2‐Related Noonan Syndrome

American Journal of Medical Genetics Part A, Volume 197, Issue 10, October 2025.
ABSTRACT Noonan syndrome is a genetic multisystem congenital disorder, caused by pathogenic variants in genes that encode components of the RAS/MAPK signaling pathway. Pathogenic variants in SOS2 represent less than 2% of cases with NS. The phenotype includes a particularly high prevalence (65%) of lymphatic disease. Recently, severe nerve enlargements
Erika Leenders, Fieke Draaisma, Corrie E. Erasmus, Catelijne Coppens, Lotte E. R. Kleimeier, Melanie Burgers, Tuula Rinne, Martin Zenker, Laura Mazzanti, Wesley Reintjes, Nens van Alfen, Jos M. T. Draaisma   +11 more
wiley   +1 more source

A Meta-Analysis of Association Between Strabismus in Children/Adolescents and Risk of Mental Health Disorders. [PDF]

Clin Ophthalmol
Krungkraipetch L, Krungkraipetch N, Threetong T.   +2 more
europepmc   +1 more source

Intravenous Lidocaine Reduces the Incidence of Vomiting in Children after Surgery to Correct Strabismus [PDF]

, 1988
Louise O. Warner, Gary L. Rogers, J. David Martino, Don L. Bremer, Thomas P. Beach   +4 more
openalex   +1 more source

Genome‐Wide Insights and Polygenic Risk Scores in Common Epilepsies: A Narrative Review

American Journal of Medical Genetics Part B: Neuropsychiatric Genetics, Volume 198, Issue 7, Page 76-87, October 2025.
ABSTRACT The research of single gene‐related disorders or pathogenic copy‐number variations (CNVs) has given a significant impetus to the shift from a diagnostic work‐up focused on epileptic syndromes to genomic approaches in individuals with severe pediatric‐onset epilepsies and in developmental and epileptic encephalopathies.
Mario Mastrangelo, Simona Petrucci, Giuliana Lentini, Marco Fabiani, Maria Piane, Francesco Pisani   +5 more
wiley   +1 more source

A Case of Highly Myopic Strabismus That Showed Temporary Large Exotropia After the Yokoyama Procedure. [PDF]

Cureus
Hirota A, Goseki T, Kunimi K, Kimijima M, Ichibe Y.   +4 more
europepmc   +1 more source

PROCEEDINGS OF THE INTERNATIONAL STRABISMUS SYMPOSIUM IN GIESSEN, GERMANY 1966

, 1967
NULL AUTHOR_ID
openalex   +1 more source

Results in 50 cases of strabismus after graduated surgery designed by A scan ultrasonography. [PDF]

, 1984
W. E. Gillies, Angus Hughes
openalex   +1 more source

A Case of Hereditary Spastic Paraplegia Type 50 With a Novel AP4M1 Variant and a Brief Review of the Literature

Clinical Case Reports, Volume 13, Issue 10, October 2025.
ABSTRACT We report a case of hereditary spastic paraplegia type 50, an extremely rare disease characterized by upper motor neuron dysfunction. This case underscores the importance of considering genetic etiologies in patients previously diagnosed with cerebral palsy, especially when clinical history, presentation, and imaging findings are inconsistent ...
Ana Teresa Guerra, André M. Travessa, José Paulo Monteiro   +2 more
wiley   +1 more source