Results 91 to 100 of about 23,828 (193)
Taiwanese Journal of Obstetrics & Gynecology, 2020 Objective: We present the prenatal diagnosis of a class II 1q21.1 microdeletion in monozygotic (MZ) twins with discordant phenotypes. Case report: A monochorionic diamniotic twin pair presented with discordant ultrasound anomalies; twin A had ...
Shan-shan Shi +4 more
doaj
Primary Progressive Multiple Sclerosis: New Therapeutic Approaches
Neuropsychopharmacology Reports, Volume 45, Issue 3, September 2025.Primary progressive MS affects 10%–15% of MS patients, causing irreversible neurological impairment. Drugs like ocrelizumab show promise, while high‐dose biotin, simvastatin, and coenzyme Q10 are under investigation. Gene therapy and stem cell treatments also show potential.
Morteza Rajabi +8 more
wiley +1 more source
Quantitative Biology, Volume 13, Issue 3, September 2025.Abstract It is challenging to identify comorbidity patterns and mechanistically investigate disease associations based on health‐related data that are often sparse, large‐scale, and multimodal. Adopting a systems biology approach, embedding‐based algorithms provide a new perspective to examine diseases under a unified framework by mapping diseases into
Tianxin Xu +4 more
wiley +1 more source
Liver International, Volume 45, Issue 9, September 2025.ABSTRACT Background & Aims Alagille syndrome (ALGS) is a rare, autosomal dominant disorder with high phenotypic heterogeneity. Disease‐causing variants are primarily identified in Jagged1 (JAG1), with fewer reported in NOTCH2. JAG1 variants cause disease through a mechanism of haploinsufficiency, but the mechanism for NOTCH2 variants is not completely ...
Shannon M. Vandriel +91 more
wiley +1 more source
Serum lipids and serum uric acid in human twins
Journal of Lipid Research, 1965 This report describes a study of serum total cholesterol, free cholesterol, glyceride glycerol, total phospholipids, and uric acid in human twins and is presented in three sections.Section 1 presents evidence that interpair variance of free cholesterol ...
Julius Jensen +4 more
doaj
Gut Microbiome Pilot Study of Patients With CHARGE Syndrome and Sibling Controls
American Journal of Medical Genetics Part A, Volume 197, Issue 8, August 2025.ABSTRACT Difficulties with feeding and digestion are common in individuals with CHARGE syndrome. Animal models with CHD7 gene variants demonstrate abnormal gut innovation and dysmotility. Our pilot study evaluated whether individuals with CHARGE syndrome have differences in their gut microbiome compared to unaffected siblings.
Emily R. Chedrawe +5 more
wiley +1 more source
European Journal of Pain, Volume 29, Issue 7, August 2025.ABSTRACT Background and Objective Research on lumbar MRI findings has mainly focused on single MRI findings and their association with low back pain (LBP). Some studies suggest that summing or combining MRI findings may show stronger associations with LBP than single findings.
Line Dragsbæk +5 more
wiley +1 more source
MedComm, Volume 6, Issue 8, August 2025.We performed cfDNA 5‐methylcytosine (5mC) and 5‐hydroxymethylcytosine (5hmC) sequencing of plasma samples from 66 individuals with SCZ and 77 healthy controls (HC). We identified differentially 5mC methylated regions (DMRs) and differentially 5hmC hydroxymethylated regions (DhMRs) that showed distinct patterns between SCZ and control samples.
Gang Xue +13 more
wiley +1 more source
Clinical Genetics, Volume 108, Issue 2, Page 146-155, August 2025.This report described 27 novel subject with CDK13‐related disorders. Collecting the clinical and radiological data, we better define the phenotypic spectrum of this condition and we suggest a comprehensive clinical management. ABSTRACT In 2016, Sifrim and colleagues described the first group of patients carrying heterozygous pathogenic variants in ...
Gianluca Contrò +57 more
wiley +1 more source
Proteomic associations with fluctuation and long‐term changes in BMI: A 40‐year follow‐up study
Diabetes, Obesity and Metabolism, Volume 27, Issue 8, Page 4192-4202, August 2025.Abstract Introduction While some studies have explored associations between weight change and blood proteins, most have been intervention‐based, offering limited insight into proteomic associations with long‐term weight gain. It remains unclear whether plasma proteins are related to BMI fluctuation over time.
Alvaro Obeso +6 more
wiley +1 more source