Download full-text PDF |
Source |
|---|---|
| http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6629316 | PMC |
| http://dx.doi.org/10.1097/CM9.0000000000000011 | DOI Listing |
Publication Analysis
Top Keywords
Similar Publications
Technology and Dementia Preconference.
Alzheimers Dement
December 2024
Deutsches Zentrum für Neurodegenerative Erkrankungen e. V. (DZNE), site Rostock / Greifswald, Rostock, Germany.
Background: Familial Alzheimer's disease research necessitates innovative methodologies to disentangle the intricate relationships between genetic factors and neuroimaging measures. Traditional frequentist approaches, often hampered by small sample sizes in this population and challenges in incorporating prior knowledge transparently, may limit the robustness of findings.
Methods: We analyzed neuroimaging data of preclinical PSNE1 single mutation carriers, utilizing the software JASP to test effects of carrier status on measures of basal forebrain functional connectivity using both frequentist and Bayesian approach.
Identification of a β-Globin Gene Mutation with the Genotype β-28(A > G), IVS-I-5(G > A)/βCD 71/72(+A) Using Third-Generation Sequencing.
Hemoglobin
January 2025
Precision Medical Lab Center, People's Hospital of Yangjiang, Yangjiang, Guangdong, People's Republic of China.
This study presents the hematological and genetic analysis of a child with severe β-thalassemia harboring triple heterozygous mutations. The child, diagnosed with anemia at the age of 1 year, became transfusion-dependent and maintained a hemoglobin level of 72.00-84.
View Article and Find Full Text PDFOsteoporosis Caused by Monoallelic Variant of WNT1 Gene in Four Pediatric Patients.
Am J Med Genet A
January 2025
Department of Endocrinology, Genetics and Metabolism, Beijing Children's Hospital, Capital Medical University, Beijing, China.
Pediatric patients of autosomal dominant early onset osteoporosis conferred by heterozygous mutation in the WNT1 (OMIM: 615221) were rarely reported, and therapy in pediatrics is relatively inexperienced. The clinical and genotypic characteristics and treatment process of four children with osteoporosis caused by WNT1 monoallelic variation were analyzed. The patients admitted from June 2023 to January 2024.
View Article and Find Full Text PDFTwo independent families with de novo whole APC gene deletion and intellectual disability: a case report.
Hered Cancer Clin Pract
January 2025
First Department of Medicine, Hamamatsu University School of Medicine, Hamamatsu, 431-3192, Japan.
Background: Familial adenomatous polyposis (FAP) is an autosomal dominant colorectal tumour syndrome characterised by the formation of multiple adenomatous polyps throughout the colon. It is important to understand the extracolonic phenotype that characterizes FAP. Most previous case reports of patients with both FAP and intellectual disability (ID) have described deletions in all or part of chromosome 5q, including the APC locus.
View Article and Find Full Text PDFAnomalous Left Coronary Artery from the Pulmonary Artery in Three Patients with MYRF-Associated Cardiac-Urogenital Syndrome.
Pediatr Cardiol
January 2025
Department of Pediatrics, Cincinnati Children's Hospital Medical Center, The Heart Institute, University of Cincinnati College of Medicine, Cincinnati, OH, USA.
Cardiac-Urogenital Syndrome (CUGS) is a recently identified genetic disease characterized by urogenital, diaphragmatic, ophthalmic, and cardiac abnormalities caused by heterozygous pathogenic variants in the Myelin Regulatory Factor (MYRF) gene. The complete spectrum of disease characteristics and prevalence is not yet defined. This report documents the first known cases of anomalous origin of the left coronary artery from the pulmonary artery (ALCAPA) in MYRF-associated Cardiac-Urogenital Syndrome (MYRF-CUGS).
View Article and Find Full Text PDFWant AI Summaries of new PubMed Abstracts delivered to your In-box?
Enter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!