Results 211 to 220 of about 630,340 (318)

Distinct Neuropsychiatric Profiles Associated With 17p11.2 Deletions and RAI1 Variants in Smith–Magenis Syndrome

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Smith–Magenis syndrome (SMS) results from either a recurrent 17p11.2 deletion or pathogenic variants in the retinoic acid induced 1 gene (RAI1). While neurodevelopmental impairment and behavioral dysregulation are well recognized, systematic genotype‐stratified analyses across psychiatric domains remain limited.
Albin Blanc, Christophe Nemos, Céline Bonnet, Mathilde Renaud, Sandra Chapuis, Pauline Boiroux, Marie‐Noëlle Babinet, Caroline Demily   +7 more
wiley   +1 more source

Diagnostic accuracy of dynamic contrast-enhanced CT for meningioma subclassification and its role in evaluating tumor vascularity. [PDF]

Medicine (Baltimore)
Liu S, Wang T, Li W, Lu H.
europepmc   +1 more source

The Myofunctional Rehabilitation of Atypical Swallowing in Children and Adolescents With Stress-Related Detrimental Habits: Single-Center Longitudinal Study in Ukraine. [PDF]

Clin Exp Dent Res
Makhlynets N, Kokoshko M, Kozan N, Ozhogan Z, Kotyk T.   +4 more
europepmc   +1 more source

Spectrum of Congenital Anomalies in Myhre Syndrome—Insights Into Effects Brought by Altered TGF‐β Signaling via Gain‐of‐Function Variants in SMAD4

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Myhre syndrome is a rare genetic disorder characterized by progressive multisystem involvement. Gain‐of‐function missense heterozygous variants affecting the Ile500 residue and Arg496 residue of the SMAD4 gene are implicated in this condition.
Kawmadi Gunawardena, Alessandro De Falco, Deborah Osio, Eleanor Sherlock, Emma Kivuva, Erina Sasaki, Francis H. Sansbury, Nayana Lahiri, Patricia Foley, Sahar Mansour, Shane McKee, Tazeen Ashraf, Nicola Brunetti‐Pierri, Usha Kini   +13 more
wiley   +1 more source

Mebendazole Attenuates Cellular Invasion in a 3D Culture Model of Meningioma by Disrupting Rho-GTPase-Mediated Microtubule Function. [PDF]

Oncol Res
James MM, Clara Elena LV, Agadha W, Chuen CAH, Lee GC.   +4 more
europepmc   +1 more source

Spinal Involvement in a Pediatric and Adult Cohort of Patients With Arthrogryposis Multiplex Congenita

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT This was a single‐center retrospective observational study with national recruitment from October 2007 to March 2022 at the AMC clinic of the University Hospital Grenoble Alpes (CHUGA). Participants underwent a clinical spinal assessment and spine radiography.
Alicia Mom, Véronique Bourg, Shenhao Dai, Alicia‐Marine Milot, Dominic Perennou, Klaus Dieterich   +5 more
wiley   +1 more source

Integrated Signature of Multiple Indices for Preoperative Predictive Stratification of Endometrial Hyperplasia Subtypes: A Retrospective Cohort Study. [PDF]

Int J Womens Health
Yang R, Tian Y, Xiang Y, Huang L, Huang X, Sun Y, Huang M, Qin L, Wang B.   +8 more
europepmc   +1 more source

Judicial Perspectives on Neurodiversity in Queensland Courts, Tribunals and Commissions: Experiences With Disclosure and Witness Credibility

Australian Journal of Social Issues, EarlyView.
ABSTRACT Little is known about the impacts of the disclosure, or the non‐disclosure, of medical conditions associated with neurodiversity in the context of court proceedings and hearings before tribunals and commissions. This paper examines the experiences of twenty‐three Queensland Judges, Magistrates, and Tribunal and Commission Members with ...
Danielle Bozin, Karen A. Sullivan, Vincent Denault, Catherine Kennon, Lucy Cradduck, Rachel Hews   +5 more
wiley   +1 more source

The Atypical and Suspicious for Malignancy Categories of the WHO Reporting System for Lymph Node, Spleen, and Thymus Cytopathology: Review of their Diagnostic Utility, Limitations, and Clinical Impact. [PDF]

Diagn Cytopathol
Cozzolino I, Ehinger M, Lin O, Maffei E, Zeppa P, Field AS.   +5 more
europepmc   +1 more source

Equine models in translational medicine: A comparative approach to human health

Animal Models and Experimental Medicine, EarlyView.
This diagram summarizes and contrasts rodent and equine models, outlining their strengths, limitations, and applications. Horses offer naturally occurring diseases, genetic and physiological similarities to humans, and suitability for longitudinal and clinical‐scale studies.
Shayan Boozarjomehri Amnieh, Katarzyna Ropka‐Molik   +1 more
wiley   +1 more source