Download full-text PDF |
Source |
|---|---|
| http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3070394 | PMC |
| http://dx.doi.org/10.1136/bcr.11.2010.3518 | DOI Listing |
Publication Analysis
Top Keywords
Similar Publications
Neonatal Familiar Cleidocranial Dysplasia: A Case Report.
Am J Case Rep
January 2025
Department of Neonatology, The Fifth Affiliated Hospital of Zunyi Medical University, Zhuhai, Guangdong, China.
BACKGROUND Cleidocranial dysplasia (CCD) is a rare (1: 1 000 000) autosomal dominant congenital skeletal dysplasia characterized by widely patent calvarial sutures, clavicular hypoplasia, supernumerary teeth, and short stature. Only a minority of the cases are diagnosed early after birth. We present another case of proven CCD presenting with typical neonatal phenotype to promote awareness of this rare disorder.
View Article and Find Full Text PDFOrnithopod dinosaurs appeared during the Middle Jurassic, but it was in the Lower Cretaceous they started their successful evolutionary history. Different phylogenies describing the evolutionary relationships of Ornithopoda are mostly based on cranial features, however there is a lack of well-preserved and complete skulls for the basal member of the clade, hampering our knowledge on the mode and tempo of these herbivorous dinosaurs. Here we describe YLSNHM 01942, a well-preserved skull of a juvenile neornithischian from the Liaoning Province of China.
View Article and Find Full Text PDFSynthetic data in generalizable, learning-based neuroimaging.
Imaging Neurosci (Camb)
November 2024
Massachusetts General Hospital, Harvard Medical School, Boston, MA, United States.
Synthetic data have emerged as an attractive option for developing machine-learning methods in human neuroimaging, particularly in magnetic resonance imaging (MRI)-a modality where image contrast depends enormously on acquisition hardware and parameters. This retrospective paper reviews a family of recently proposed methods, based on synthetic data, for generalizable machine learning in brain MRI analysis. Central to this framework is the concept of domain randomization, which involves training neural networks on a vastly diverse array of synthetically generated images with random contrast properties.
View Article and Find Full Text PDFOutpatient management of large scalp aplasia cutis congenita without skull defect in a case of Adams-Oliver syndrome.
Kaohsiung J Med Sci
January 2025
Department of Dermatology, Kaoshiung Chang Gung Memorial Hospital, Kaohsiung City, Taiwan.
Polycomb-associated and Trithorax-associated developmental conditions-phenotypic convergence and heterogeneity.
Eur J Hum Genet
January 2025
MRC Cognition and Brain Sciences Unit, University of Cambridge, Cambridge, UK.
Polycomb group (PcG) and Trithorax group (TrxG) complexes represent two major components of the epigenetic machinery. This study aimed to delineate phenotypic similarities and differences across developmental conditions arising from rare variants in PcG and TrxG genes, using data-driven approaches. 462 patients with a PcG or TrxG-associated condition were identified in the DECIPHER dataset.
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!