Results 101 to 110 of about 1,728 (214)

Extraocular Muscle Surgery in Dysthyroid Orbitomyopathy: Influence of Previous Conditions on Surgical Results

, 2002
Purpose: To determine the influence of previous treatments other than the surgical treatment of restrictive myopathy resulting from dysthyroid ...
Yolar, M, Pazarli, H, Velittin Oguz, Murat Yolar, Halit Pazarli, Oguz, V   +5 more
core   +1 more source

De Novo Complex Genomic Rearrangement Spanning 2q31.1 in a Proband With Congenital Malformations: Genotype–Phenotype Correlation and Development of a CGR Detection Pipeline

American Journal of Medical Genetics Part A, Volume 200, Issue 8, Page 1832-1841, August 2026.
ABSTRACT The 2q31 region is commonly associated with pathogenic alleles of the HOXD cluster leading to various clinical phenotypes related to skeletal development. We present a proband with tetralogy of Fallot and multiple congenital anomalies. Genomic variant screening including an in‐house CGR detection pipeline pairing genome sequencing (GS ...
Katherine Helle, Jesse D. Bengtsson, Mira Gandhi, Christopher M. Grochowski, Ming Yin Lun, Neha Sudhir, Shalini N. Jhangiani, Fritz J. Sedlazeck, Seema R. Lalani, Neil A. Hanchard, Claudia M. B. Carvalho   +10 more
wiley   +1 more source

Acute esotropia: a tale of an isolated medial wall trapdoor fracture with medial rectus entrapment

BMC Ophthalmology
Background Isolated medial wall fractures are far less common than floor fractures. Uncommon but rather serious, are patients who present with adduction or abduction deficit following medial wall fractures. Case presentation We present a case with medial
Rawan Hosny, Rania A. Ahmed
doaj   +1 more source

Dual pharmacological targeting of coactivator‐associated arginine methyltransferase 1 (CARM1) and salt inducible kinase (SIK) drives ketogenesis in both hepatocytes and mice

British Journal of Pharmacology, Volume 183, Issue 15, Page 4399-4415, August 2026.
Abstract Background and Purpose Ketone bodies are liver‐derived circulating energy metabolites that positively impact most hallmarks of ageing. Ketone bodies increase during calorie restriction and fasting, two of the more widely perceived methods to increase health span.
Tábata Bergonci, Troels Kjær Rosenbæk, Samuel J. Windross, Ulrik B. Keiding, Estéfano Pinilla, Katrine P. Stuckert, Jakob Hansen, Camilla B. Nielsen, Jemila Peter Gomes, Lucy R. Davies, Johan Palmfeldt, Volker Loeschcke, Charlotte U. Andersen, Ulf Simonsen, Thomas B. Poulsen, Mogens Johannsen   +15 more
wiley   +1 more source

Toxina botulínica versus cirugía en el estrabismo restrictivo Botulinum toxin versus surgery in treating restrictive strabismus

Revista Cubana de Oftalmología, 2010
OBJETIVOS: Evaluar los resultados del tratamiento con toxina botulínica en su corrección y compararlos con los obtenidos por la cirugía convencional, en casos con similar grado de severidad del estrabismo.
María Cáceres Toledo, Melba Márquez Fernández, Odalys Cáceres Toledo   +2 more
doaj  

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

Clinical Genetics, Volume 110, Issue 2, Page 150-164, August 2026.
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

A 3‐year‐old girl with a left optic nerve tumor

Brain Pathology, EarlyView.
Samuel López Muñoz, Alberto Berjón, Carlos Rodríguez Antolín, Claudia Sánchez Lara, Marta Mendiola, Victoria Heredia Soto, Álvaro Lassaletta, Carlos González Pérez, Pedro Rubio Aparicio, Jorge Zamorano, Isabel Esteban Rodríguez   +10 more
wiley   +1 more source

Barriers to Ophthalmologic Care Reported by Family Caregivers of Users and Non‐Users With Intellectual Disabilities

Journal of Intellectual Disability Research, Volume 70, Issue 8, Page 845-857, August 2026.
ABSTRACT Background People with intellectual disabilities (IDs) are more likely to experience vision‐related impairments, yet they face many barriers to accessing eye care. Although previous studies have described these barriers, few have compared barriers reported by families who have and have not accessed ophthalmologic care, which may provide ...
Chiun‐Ho Hou, Yueh‐Ching Chou, Shu‐Fang Shih, Christy Pu   +3 more
wiley   +1 more source

Variantes terapéuticas del estrabismo restrictivo Therapeutic variants of restricted strabismus

Revista Cubana de Oftalmología, 2009
INTRODUCCIÓN: El estrabismo restrictivo es la secuela más frecuente de la orbitopatía tiroidea. Ocurre por el desplazamiento de los músculos hacia los senos perinasales.
María Cáceres Toledo, Raiza Pérez Mendonza   +1 more
doaj  

Differentiating the Clinical and Variant Spectrum of Hardikar Syndrome From Other MED12 ‐Related Developmental Disorders

American Journal of Medical Genetics Part A, Volume 200, Issue 7, Page 1619-1650, July 2026.
ABSTRACT The rare X‐linked female‐restricted Hardikar syndrome (HDKR, OMIM # 301068) is characterized by multiple congenital anomalies including orofacial clefts, gastrointestinal, genitourinary, and cardiac anomalies, but cognitive and neurobehavioral development is rarely impaired.
Tinne Warmoeskerken, Miel Theunis, Kris Van den Bogaert, Koenraad Devriendt, Jeroen Breckpot   +4 more
wiley   +1 more source