Download full-text PDF |
Source |
|---|
Publication Analysis
Top Keywords
Similar Publications
Live birth prevalence of major congenital anomalies in the United Arab Emirates.
Sci Rep
January 2025
Institute of Public Health, College of Medicine and Health Sciences, United Arab Emirates University, P.O. Box 15551, Al Ain, United Arab Emirates.
Major congenital anomalies (MCAs) significantly contribute to perinatal mortality and morbidity. Globally, the United Arab Emirates has the sixth-highest prevalence rate of congenital anomalies. The lack of clear baseline prevalence data for MCAs impedes the development of interventions to alleviate this burden.
View Article and Find Full Text PDFAuditory evoked-potential abnormalities in a mouse model of 22q11.2 Deletion Syndrome and their interactions with hearing impairment.
Transl Psychiatry
January 2025
Ear Institute, University College London, London, UK.
The 22q11.2 deletion is a risk factor for multiple psychiatric disorders including schizophrenia and also increases vulnerability to middle-ear problems that can cause hearing impairment. Up to 60% of deletion carriers experience hearing impairment and ~30% develop schizophrenia in adulthood.
View Article and Find Full Text PDFMorphometric analysis of the C1-2 zygapophysial joint in atlantoaxial dislocation patients with sandwich fusion of the craniovertebral junction.
Neurosurg Rev
January 2025
Department of Orthopaedics, Peking University Third Hospital, Beijing, China.
The combination of congenital C1 occipitalization and C2-3 non-segmentation (i.e. "sandwich fusion") results in early development of atlantoaxial dislocation (AAD).
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 PDFSLC10A7 regulates O-GalNAc glycosylation and Ca homeostasis in the secretory pathway: insights into SLC10A7-CDG.
Cell Mol Life Sci
January 2025
Univ. Lille, CNRS, UMR 8576 - UGSF - Unité de Glycobiologie Structurale Et Fonctionnelle, 59000, Lille, France.
Glycans are known to be fundamental for many cellular and physiological functions. Congenital disorders of glycosylation (CDG) currently encompassing over 160 subtypes, are characterized by glycan synthesis and/or processing defects. Despite the increasing number of CDG patients, therapeutic options remain very limited as our knowledge on glycan synthesis is fragmented.
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!