Results 191 to 200 of about 1,116,177 (240)

P629: Analytical performance evaluation of whole genome sequencing as first-line genetic testing for intellectual development disorders and congenital malformations*

Genetics in Medicine Open
Peter Bui, Colyn Cain, Julie Cox, Mark Fleharty, Yueyao Gao, Benjamin Hilton, Sean Hofherr, Katie Larkin, Guang Li, David Marsh, Sarah South, Reha Toydemir   +11 more
doaj   +1 more source

Correction: Shah et al. Visualization of Critical Limits and Critical Values Facilitates Interpretation. <i>Diagnostics</i> 2025, <i>15</i>, 604. [PDF]

Diagnostics (Basel)
Shah A, Dohner J, Cheng K, Garcia M, Kost GJ.   +4 more
europepmc   +1 more source

Early Clinical, Imaging, and Pathological Characteristics of SRPK3/TTN‐Digenic Myopathy

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective SRPK3/TTN‐digenic myopathy was recently established as a skeletal muscle myopathy caused by digenic inheritance. This study characterizes the early clinical presentation of SRPK3/TTN‐digenic myopathy in one previously reported and seven newly identified pediatric patients.
Rotem Orbach, Sandra Donkervoort, Carola Hedberg‐Oldfors, Giovanni Baranello, Dimah Saade, Precilla D'Souza, Ruchee Patel, Eva Michael, A. Reghan Foley, Diana Bharucha‐Goebel, S. Jin Haugland, Meghan McAnally, Omer Abdul Hamid, Katherine Chao, Ellen F. Macnamara, Alan H. Beggs, Anna Sarkozy, Juliane Mueller, Steven A. Moore, Richard S. Finkel, Cynthia J. Tifft, Francesco Muntoni, Anders Oldfors, Carsten G. Bönnemann   +23 more
wiley   +1 more source

AI-Driven Dentistry and Public Health Surveillance: Opportunities and Challenges. [PDF]

Public Health Chall
Douris P, Kodovazenitis G.
europepmc   +1 more source

Risk of Non‐Arteritic Anterior Ischemic Optic Neuropathy in Idiopathic Intracranial Hypertension Patients Treated with GLP‐1 Receptor Agonists

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Introduction Glucagon‐like peptide‐1 receptor agonists (GLP‐1 RAs) have demonstrated significant weight‐reducing effects and may offer benefits in idiopathic intracranial hypertension (IIH); however, recent concerns about the risk of non‐arteritic anterior ischemic optic neuropathy (NAION) have emerged.
Faisal A. Al‐Harbi, Mohanad A. Alkuwaiti, Yazeed B. Alaql, Ahmed K. Alsaif, Ahmed A. Alessa, Meshari Ayed Alharbi, Mohammed Alfalah, Saud A. Alnaaim, Sajjad M. AlHaddad, Ahmed Y. Azzam   +9 more
wiley   +1 more source

Effects of Pep19 on adipose tissue distribution and metabolic parameters in adults with obesity: A randomized, double-blind, placebo-controlled trial. [PDF]

iScience
Vantini D, Roberto de Sá J, Sarni ROS, Hix S, Filho FL, Ruiz R, Remer RA, Krongrad A, Martucci LF, Ferro ES, Heimann AS, Fonseca FLA.   +11 more
europepmc   +1 more source

Compound Heterozygote Friedreich Ataxia Patients With Covert Proximal FXN Gene Deletions

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT We present Friedreich ataxia patients with frataxin gene deletions. Data and records were collected at the Children's Hospital of Philadelphia from patients enrolled in the FACOMS natural history study. Patients with proximal deletions initially diagnosed with only one GAA expanded allele had more severe disease than their homozygous expansion
Michael P. Lazaropoulos, Morgan C. Devore, Christina Lam, Courtney Park, Sanjay Bidichandani, David R. Lynch   +5 more
wiley   +1 more source

The Effect of Hepatitis B Infection on Levels of Fibrinogen, Protein C, and Protein S in Pregnant Women

Journal of Pregnancy
Abiba Alhassan Khalifah, Stephen Twumasi, Allwell Adofo Ayirebi, Wina Ivy Ofori Boadu, Francis Agyei Amponsah, Joseph Frimpong, David Amoah Afrifah, Ernest Appiagyei, Albert Ntim Boadu, Daniel Nii Martey Antonio, Enoch Odame Anto   +10 more
doaj   +1 more source

Expanding access to molecular oncology testing in Africa and lower middle-income countries. [PDF]

Afr J Lab Med
Chaudhry S, Ehtesham Z.
europepmc   +1 more source

Sertraline Treatment Can Mimic Niemann‐Pick Type C Biomarker Profile: A Diagnostic Pitfall

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Background Oxysterols (cholestane‐3β,5α,6β‐triol and 7‐ketocholesterol) and N‐palmitoyl‐O‐phosphocholineserine (PPCS) are sensitive biomarkers for Niemann‐Pick disease type C (NPC) screening. However, false‐positive results occur, with a biomarker profile suggestive of NPC despite the absence of pathogenic variants in genes involved in NPC or ...
Maria Makrygianni, Cecile Pagan, Antony Citterio‐Quentin, Isabelle Rouvet, Giulia Dingeo, Cyril Hanin, Claudine Laurent‐Levinson, Samia Pichard, Bénédicte Héron, Clément Gourguechon, Daniele Mandia, Jerome Guitton, Carole Lacout, Nicolas Schleinitz, Florient Potier, Olivier Flabeau, Elsa Besse‐Pinot, Foudil Lamari, Magali Pettazzoni, Yann Nadjar   +19 more
wiley   +1 more source