Results 191 to 200 of about 214,123 (285)

Cerebral Venous Sinus Thrombosis Revealing ALK-Positive Anaplastic Large-Cell Lymphoma in a Patient with Inherited Thrombophilia and Concomitant Infection: Case Report and Narrative Review. [PDF]

Life (Basel)
Dan TF, Pis AT, Ulucean AM, Copil A, Bertici R, Miron A, Borz AM, Munteanu G, Iacob N, Ionita I, Jianu SN, Jianu DC.   +11 more
europepmc   +1 more source

Phenotypic Clues in Infantile‐Onset Parkinsonism‐Dystonia‐2: A Treatable Neurotransmitter Disorder

Movement Disorders Clinical Practice, Volume 13, Issue 9, Page 2288-2292, September 2026.
Sangeetha Yoganathan, Haya S. AlFaris, Lindsey Vogt, Michele Eid, Anika Menetrey, Sayoni Roy Chowdhury, Dawn Codeiro, Pradeep Krishnan, Liali Aljouda, Emily W.Y. Tam, Carolina Gorodetsky   +10 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

Large-scale GWAS of strabismus identifies risk loci and provides support for a link with maternal smoking. [PDF]

Nat Commun
He W, van der Most PJ, Ong JS, Hwang LD, Wu Y, Magnø MS, Vehof J, Krebs K, Mauring L, Õunap K, Abner E, Martin NG, Plotnikov D, Jiang C, Melles RB, Gharahkhani P, Snieder H, Palumaa T, Kaljurand K, Guggenheim JA, Mackey DA, Engle EC, Choquet H, Lifelines Cohort Study, MacGregor S.   +24 more
europepmc   +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

Bilateral Cavernous Sinus Thrombosis and Clival Osteomyelitis Complicating Pediatric Otitis Media. [PDF]

Cureus
Akammar A, Ouazzani Chahdi H, Chaouche I, El Bouardi N, Haloua M, Alami B, Alaoui Lamrani Y, Maaroufi M, Boubbou M.   +8 more
europepmc   +1 more source

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

Whole-genome sequencing uncovers diverse genetic causes and phenotypic signatures in infantile nystagmus and albinism. [PDF]

NPJ Genom Med
Fassad MR, Vasudevan PC, Barwell J, Maconachie G, Madhusudhan S, Hunt D, Gottlob I, Moosajee M, Mahroo OA, Webster AR, Michaelides M, Thomas MG.   +11 more
europepmc   +1 more source

Neurodevelopmental Phenotypes and Brain Anomalies in Individuals With Heterozygous SEMA6A Variants

Clinical Genetics, Volume 110, Issue 3, Page 325-335, September 2026.
SEMA6A plays a role in cell migration and axon guidance in the developing central nervous system. Phenotypes seen in eleven individuals heterozygous for SEMA6A variants included developmental delay, intellectual disability, autism/autistic behaviors, behavioral abnormalities, attention disorders, hypotonia, and brain anomalies.
Evan Burchfiel, Xiaonan Zhao, Nichole M. Owen, Tia Gordon, Mahshid S. Azamian, Eric C. Kao, Fan Xia, Xi Luo, Jill A. Rosenfeld, Seema R. Lalani, Allison P. Ortega, Steven B. Bleyl, Florence Petit, Sulekha Rajagopolan, Bénédicte Demeer, Meredith K. Gillespie, Lijia Huang, Matthew Osmond, Kym M. Boycott, Kyra E. Stuurman, Marjon A. van Slegtenhorst, Haley Soller, Céline Jost, Aurore Garde, Hana Safraou, Laurence Faivre, Victor Faundes, Daryl A. Scott   +27 more
wiley   +1 more source

The global prevalence of horizontal strabismus: A systematic review and meta-analysis with a focus on ethnic variation. [PDF]

Surv Ophthalmol
von Bartheld CS, Hagen MM, Jiang J, Yang W, Agarwal AB.   +4 more
europepmc   +1 more source