Results 91 to 100 of about 287 (186)

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

How Well Can Words Capture Facial Appearance? A Cross‐Linguistic Exploration

Topics in Cognitive Science, EarlyView.
Abstract When describing faces, people often struggle with verbalizing facial features. Free descriptions seem to focus predominantly on aspects of faces that are inferred, for example, psychological traits, age, attractiveness, and so on, whereas facial features themselves are often described in a limited and imprecise fashion.
Ewelina Wnuk, Jan Wodowski
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  

35 Individuals With HUWE1‐Related Neurodevelopmental Disorder and Suggested Clinical Evaluations

American Journal of Medical Genetics Part A, Volume 200, Issue 9, Page 2010-2018, September 2026.
ABSTRACT HUWE1 (HECT, UBA, and WWE Domain Containing E3 Ubiquitin Protein Ligase1, OMIM 300697), located at Xp11.22, encodes a ubiquitin ligase that is highly conserved across species. Genetic variants in HUWE1 described in multiple independent studies cause X‐linked intellectual disability, including in the patients identified by Juberg, Marsidi, and ...
Mindy H. Li, Deziree L. Coleman, Kelsey Hogan, Danielle Luz, Lindsay Bhandari, Newell Belnap, Tiffany Busa, Charles Coutton, Klaus Dieterich, Svetlana Gorokhova, Clara Hildebrandt, Rachel Logan, Milena Mariani, Manuela Morleo, Vincenzo Nigro, John Pappas, Rachel Rabin, Kelly Schoch, Angelo Selicorni, Vandana Shashi, Rebecca Spillmann, Jennifer Sullivan, Charlotte Tardy, Samantha A. Schrier Vergano, Brock Grill, Kristin Baranano   +25 more
wiley   +1 more source

Long‐Term Follow Up of Two Patients With Variants in the Cluster 1031‐1159 of TRRAP Gene: Expanding the Phenotype of Developmental Delay With or Without Dysmorphic Facies and Autism

American Journal of Medical Genetics Part A, Volume 200, Issue 9, Page 2099-2105, September 2026.
ABSTRACT The transformation/transcription domain‐associated protein (TRRAP) gene encodes a large multidomain protein, a member of the phosphatidylinositol 3‐kinase‐related kinase (PIKK) family. TRRAP is a component of the histone acetyltransferase (HAT) complex, and it plays an important role in gene transcription, DNA repair, and cell‐cycle regulation.
Roseli Maria Zechi‐Ceide, Vinicius Contrucci Dantas Segarra, Siulan Vendramini‐Pittoli, Henrique Regonaschi Serigatto, Luiza Virmond, Heloisa Marcelina da Cunha Palhares, Fernanda Jehee, Ana Cristina Victorino Krepischi, Carla Rosenberg, Carlos Henrique Paiva Grangeiro, Nancy Mizue Kokitsu‐Nakata   +10 more
wiley   +1 more source

Clinical, Behavioral and Neuroradiological Phenotype in an Italian Cohort of Patients With Xia Gibbs Syndrome: A Multicenter Cross‐Sectional Study and Systematic Literature Review

American Journal of Medical Genetics Part A, Volume 200, Issue 9, Page 2067-2079, September 2026.
ABSTRACT Heterozygous variants in the AHDC1 gene are associated with Xia Gibbs Syndrome (XGS), a genetic disorder with a highly variable phenotype. Cognitive impairment, motor delay, language delay, neonatal hypotonia, and sleep apnea are considered “cardinal” signs of the disease.
Giulia Cinelli, Stefania Della Vecchia, Patrizia Bergonzini, Elisa Caramaschi, Elisabetta Spezia, Claudia Parenti, Simona Filomena Madeo, Laura Lucaccioni, Cavalleri Francesca, Marisa Pugliese, Federico Raviglione, Clara Colonna, Olga Calabrese, Ilaria Stanghellini, Maria Carmen Marongiu, Enrico Biagioni, Anna Rita Ferrari, Roberta Battini, Lorenzo Iughetti   +18 more
wiley   +1 more source

Examining associations between foundational and complex mathematics skills in people with Down syndrome and typically developing children

British Journal of Developmental Psychology, Volume 44, Issue 3, Page 573-589, September 2026.
Abstract Acquiring mathematical competence is essential to independent living. In this study, we investigated the mathematics profile in young people with Down syndrome (DS), and the relations between foundational and more complex mathematics skills.
Su Morris, Emily K. Farran, Katie A. Gilligan‐Lee   +2 more
wiley   +1 more source

Novel Postzygotic Variants Associated With Hypomelanosis of Ito Expand the ACTB‐Related Neurocutaneous Disease Spectrum

Clinical Genetics, Volume 110, Issue 3, Page 369-373, September 2026.
We describe a previously unreported phenotype related to postzygotic ACTB variants with hypomelanosis of Ito, characterized by hypopigmentation associated or not with neurodevelopmental features, distinct from Becker presentations, bridging constitutional neurodevelopmental and somatic cutaneous phenotypes.
Estella Castillon, Paul Rollier, Didier Bessis, Laurent Pasquier, Caroline Racine, Alexis Praga, Pierre Vabres, Bertille Bonniaud, Paul Kuentz, Laurence Faivre   +9 more
wiley   +1 more source

Evaluation of self-esteem in adult patients with strabismus

Medisan, 2018
A longitudinal, prospective and comparative study of 43 adults with strabismus who went to the Ophthalmology Service of the Southern Pediatric Hospital in Santiago de Cuba, from January, 2015 to May, 2017 was carried out, in order to evaluate their self ...
Maria Emilia Fernández González, Grisel Frómeta Rivaflecha, Elizabeth Leyte Vidal Rodríguez   +2 more
doaj  

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