Results 171 to 180 of about 43,400 (289)

Review of Congenital Myasthenic Syndrome Caused by Pathogenic Variants in GFPT1

Muscle &Nerve, EarlyView.
ABSTRACT Glutamine:fructose‐6‐phosphate transaminase 1 (GFPT1) catalyzes the first and rate‐limiting step of the hexosamine biosynthetic pathway (HBP) to generate UDP‐GlcNAc. GFPT1 exon 9 is specifically spliced in in striated muscles, which makes a long isoform of GFPT1 (GFPT1‐L).
Kinji Ohno, Mohammad Nazim, Ruchen Zhang, Paniz Farshadyeganeh, Mikako Ito, Bisei Ohkawara   +5 more
wiley   +1 more source

Artificial Intelligence Revolution: The Need for a Regulatory and Governance Framework in Dentistry

Journal of Dental Education, EarlyView.
Ehsan Jozaghi
wiley   +1 more source

Next‐Generation Paleopathology: Using Commercial AI in Bioarchaeological Diagnosis

International Journal of Osteoarchaeology, EarlyView.
ABSTRACT Artificial intelligence encompasses computational systems capable of performing cognitive functions such as learning, reasoning, and problem‐solving. Within this domain, generative AI and large language models such as ChatGPT, Gemini, and Copilot have shown significant potential in clinical diagnostics.
Jessica Mongillo, Giulia Vescovo, Giulia Manzo, Nicoletta Zedda, Barbara Bramanti   +4 more
wiley   +1 more source

Optical mapping reveals a higher level of large‐scale structural variants in a family with paternally transmitted myotonic dystrophy and independent Parkinson's disease

The Journal of Pathology, EarlyView.
Abstract Myotonic dystrophy type 1 (DM1) is a clinically challenging multisystem neuromuscular hereditary disorder, with generational increase in severity and earlier age at onset. It is caused by an unstable cytosine‐thymine‐guanine repeat expansion at the DMPK locus, accompanied by associated genetic and epigenetic modifications.
Md Mehedi Hasan, Jenna Craddock, Tingting Gong, Ruth J Lyons, Igor Stevanovski, Sanjog R Chintalaphani, Ira W Deveson, Weerachai Jaratlerdsiri, Kishore R Kumar, Vanessa M Hayes   +9 more
wiley   +1 more source

Standardized Reporting of Cardiac Magnetic Resonance Examinations in Children With Cardiac Diseases and Adults With Congenital Heart Disease: A Scientific Statement From the Association for European Pediatric and Congenital Cardiology (AEPC) and the International Society for Magnetic Resonance in Medicine (ISMRM)

Journal of Magnetic Resonance Imaging, EarlyView.
Francesca Raimondi, Inga Voges, Lamia Ait‐Ali, Sonya Babu‐Narayan, Rene Botnar, Barbara Burkhardt, Adrienne Campbell‐Washburn, Dominik Daniel Gabbert, Georg Hansmann, Willem A. Helbing, Hasan Hosan, Sylvia Krupickova, Heiner Latus, Duarte Martins, Colin McMahon, Christian Meierhofer, Vivek Muthurangu, Tiina Ojala, Pim van Ooij, Claudia Prieto, Milan Prsa, Kuberan Pushparajah, José F. Rodríguez Palomares, Samir Sarikouch, Lars Grosse‐Wortman, F. Gerald Greil, Heynric Grotenhuis   +26 more
wiley   +1 more source

Diagnostic Yield of Post‐Mortem Fetal Micro‐CT for Abdominal and Pelvic Anomalies

Prenatal Diagnosis, EarlyView.
ABSTRACT Objective(s) This study aims to document the abdominal and pelvic anomalies that can be demonstrated using post mortem Micro‐CT, independent of whether the anomaly contributed to the main diagnosis or cause of death. Methods We retrospectively analyzed 1200 whole body post‐mortem fetal Micro‐CT scans in an unselected, consecutive cohort ...
Ian C. Simcock, Audrey Lamouroux, Susan C. Shelmerdine, J. Ciaran Hutchinson, Neil J. Sebire, Owen J. Arthurs   +5 more
wiley   +1 more source

Diagnostic Yield of Post‐Mortem Fetal Micro‐CT for Central Nervous System Abnormalities

Prenatal Diagnosis, EarlyView.
ABSTRACT Objectives This study demonstrates the central nervous system (CNS) abnormalities detected using fetal post‐mortem micro‐focus computed tomography (Micro‐CT), independent of whether the abnormality contributed to the main diagnosis or cause of death.
Ian C. Simcock, Audrey Lamouroux, Susan C. Shelmerdine, J. Ciaran Hutchinson, Neil J. Sebire, Owen J. Arthurs   +5 more
wiley   +1 more source

Five-year follow-up outcomes of comprehensive rehabilitation in Korean siblings with cerebral, ocular, dental, auricular, skeletal anomalies (CODAS) syndrome: A case report. [PDF]

Medicine (Baltimore), 2019
Yoo SD, Han YR, Kim DH, Lee SA.
europepmc   +1 more source

Evaluating the Utility of RNAseq in Prenatal Diagnostics: Expression Profiles of Cultured Chorionic Villus and Amniotic Fluid Samples

Prenatal Diagnosis, EarlyView.
ABSTRACT Objective While RNAseq has enhanced variant interpretation in postnatal cases, its potential in the prenatal setting remains underexplored. This study investigates the utility of RNAseq in prenatal diagnostics by analyzing the expression profiles of cultured chorionic villus samples (cCVS) and amniotic fluid (cAF) samples. Methods We performed
Maria C. Vladoiu, Sen Zhao, Roni Zemet, Christian M. Parobek, Jefferson Cruz Sinson, Stacy Tankersley, Ignatia B. Van den Veyver, Pengfei Liu   +7 more
wiley   +1 more source

Cross Sectional Study of Prenatal Diagnosis Uptake Among Individuals With Genetic Conditions

Prenatal Diagnosis, EarlyView.
ABSTRACT Objective Prenatal diagnostic genetic testing allows for early identification of significant fetal conditions and enables informed decision‐making regarding management options. The aim of this study was to assess prenatal testing practice among individuals with genetic conditions.
Ebunoluwa Ojo, Roni Zemet, Allyson Nevins, Katherine Abraham, April D. Adams   +4 more
wiley   +1 more source