Results 181 to 190 of about 68,059 (240)

amer1 Regulates Zebrafish Craniofacial Development by Interacting with the Wnt/β-Catenin Pathway. [PDF]

Int J Mol Sci
Sun L, Ping L, Fan X, Fan Y, Zhang B, Chen X.   +5 more
europepmc   +1 more source

Integrating Chain‐of‐Thought and Retrieval Augmented Generation Enhances Rare Disease Diagnosis From Clinical Notes

Medicine Bulletin, EarlyView.
ABSTRACT Background Several studies show that large language models (LLMs) struggle with phenotype‐driven gene prioritization for rare diseases. These studies typically use Human Phenotype Ontology (HPO) terms to prompt foundation models such as GPT and LLaMA to predict candidate genes.
Zhanliang Wang, Da Wu, Quan Nguyen, Kai Wang   +3 more
wiley   +1 more source

The Spectrum of Abnormal Tongue Movements: Review of Phenomenology, Etiology, and Differential Diagnosis

Movement Disorders Clinical Practice, EarlyView.
ABSTRACT Background Classifying abnormal tongue movements is challenging due to their varied presentations and limited visibility compared to other body parts. Accurate identification of the phenomenology guides physical examination and can point to specific diagnoses.
Nathaniel Bendahan, Seyed‐Mohammad Fereshtehnejad, Christos Ganos, Emily Swinkin, Anthony E. Lang   +4 more
wiley   +1 more source

The Pain in Dystonia Scale (PIDS)—Validation in Craniofacial and Upper Limb Dystonia

Movement Disorders Clinical Practice, EarlyView.
ABSTRACT Background Pain is one of the most disabling non‐motor symptoms in adult‐onset isolated dystonia (AOID). The Pain in Dystonia Scale (PIDS) was developed and validated in cervical dystonia. Its applicability to other focal subtypes remains unknown.
Veronica Bruno, Vittorio Velucci, Beatrice Achen, Marcello Mario Mascia, Antonella Muroni, Daniele Belvisi, Francesco Marchet, Laura Avanzino, Francesca Di Biasio, Roberto Erro, Cristiano Sorrentino, Lucio Marinelli, Flavio Villani, Antonio Pisani, Francesca Valentino, Angelo Fabio Gigante, Anna Castagna, Francesco Bono, Giovanni Cossu, Carlo Alberto Artusi, Carmen Terranova, Martina Petracca, Nicola Tambasco, Giovanni Defazio, Davide Martino   +24 more
wiley   +1 more source

Obstructive Sleep Apnea Following Bariatric Surgery: 20 Year Outcomes From the Swedish Obese Subjects Study

Obesity, EarlyView.
ABSTRACT Objective Bariatric surgery has been suggested to improve obstructive sleep apnea (OSA) in short‐term studies, but long‐term evidence is limited. We evaluated remission and new onset of OSA over 20 years in participants from the Swedish Obese Subjects (SOS) study, comparing bariatric surgery with usual obesity care.
Ida Arnetorp, Markku Peltonen, Kajsa Sjöholm, Per‐Arne Svensson, Peter Jacobson, Magdalena Taube, Lena M. S. Carlsson, Johanna C. Andersson‐Assarsson, Sofie Ahlin   +8 more
wiley   +1 more source

Whole Genome Sequencing in Prenatal Diagnostics: The Danish Approach to Guideline Formation and Implementation Within Public Healthcare

Prenatal Diagnosis, EarlyView.
ABSTRACT Objective To describe the implementation of whole genome sequencing (WGS) in prenatal diagnostics and outline the national guideline system facilitating this. Methods Clinical guidelines for WGS in prenatal diagnostics were developed and implemented by the Danish Fetal Medicine Society.
Ida Vogel, Lotte Andreasen, Marie Balslev‐Harder, Naja Becher, Anja Ernst, Kasper Gadsbøll, Tina Duelund Hjortshøj, Marie Skov Hvidbjerg, Martin Larsen, Stina Lou, Ida Charlotte Bay Lund, Lars Henning Pedersen, Laura Kirstine Sønderberg Roos, Lene Sperling, Lone Sunde, Pernille Mathiesen Tørring, Cathrine Vedel, Olav Bjørn Petersen   +17 more
wiley   +1 more source

[Nuclear Factor I-X Regulates Molecular Pathways Related to Craniofacial Development Through Phase Separation]. [PDF]

Sichuan Da Xue Xue Bao Yi Xue Ban
Wang J, Fan Y, Xu R, Jing J, Zhou X.
europepmc   +1 more source

Yield of Whole Genome Sequencing for Pathogenic Single Nucleotide Variants in Congenital Heart Disease: A Systematic Review and Meta‐Analysis

Prenatal Diagnosis, EarlyView.
ABSTRACT Objective This systematic review and meta‐analysis aimed to assess the diagnostic yield of pathogenic or likely pathogenic (P/LP) single nucleotide variants (SNVs) using whole genome sequencing (WGS) in congenital heart disease (CHD). Methods A systematic search of three databases (2000–2024) was conducted, and two reviewers independently ...
Hiba J. Mustafa, Parisa Najjariasl, Faezeh Aghajani, Enaja V. Sambatur, Andrew Rodenbarger, Stephanie Guseh, Amy E. Roberts, Alireza A. Shamshirsaz   +7 more
wiley   +1 more source

METTL3-dependent m⁶A modification of PSEN1 mRNA regulates craniofacial development through the Wnt/β-catenin signaling pathway. [PDF]

Cell Death Dis
Ma L, Zhou X, Yao S, Zhang X, Mao J, Vona B, Fan L, Lou S, Li D, Wang L, Pan Y.   +10 more
europepmc   +1 more source

Uncovering the Genetic Landscape of Spinal Dysraphism: A Retrospective Analysis of 150 Fetal Cases

Prenatal Diagnosis, EarlyView.
ABSTRACT Objective Spinal dysraphism (SD) results from incomplete neural tube closure and encompasses a heterogeneous group of congenital anomalies with genetic and environmental etiologies. Although genetic contributions are recognized, causative variants remain insufficiently defined, and the clinical implications of extended genetic testing on ...
I. Bedei, A. Feresin, R. Zemet, D. Berner, D. Polidori, K. Fröbius, A. Skakkebæk, R. Axt‐Fliedner, M. Shoukier, C. Keil   +9 more
wiley   +1 more source