The Internet Archive has a preservation copy of this work in our general collections.
The file type is application/pdf.
Filters
The Bone Dysplasia Ontology: integrating genotype and phenotype information in the skeletal dysplasia domain
2012
BMC Bioinformatics
Preserved Fulltext
We also describe the different components of the ontology, including a comprehensive and formal representation of the skeletal dysplasia domain as well as the related genotypes and phenotypes. ...
SKELETOME enables domain experts to use, refine and extend and apply the ontology without any prior ontology engineering experience-to advance the body of knowledge in the skeletal dysplasia field. ...
We wish to thank Yuan-Fang Li, Hasti Ziamatin and Razan Paul for their input in designing the ontology. ...
doi:10.1186/1471-2105-13-50
pmid:22449239
pmcid:PMC3338382
fatcat:flu5hsohtvahhmd5kwfec4es6u
The Human Phenotype Ontology
2010
Clinical Genetics
Preserved Fulltext
A copy of this work was available on the public web and has been preserved in the Wayback Machine. The capture dates from 2020; you can also visit the original URL.
The file type is application/pdf.
algorithms for phenotype driven genomic discovery and diagnostics, integration of cross-species mapping efforts with the Mammalian Phenotype Ontology, an improved quality control pipeline, and the addition ...
Deep phenotyping has been defined as the precise and comprehensive analysis of phenotypic abnormalities in which the individual components of the phenotype are observed and described. ...
The views expressed in this publication are those of the authors and not necessarily those of the funding agencies involved. ...
doi:10.1111/j.1399-0004.2010.01436.x
pmid:20412080
fatcat:ltjtumlbpnfqdkp6vjahbzu35u
The Human Phenotype Ontology in 2017
2016
Nucleic Acids Research
Preserved Fulltext
A copy of this work was available on the public web and has been preserved in the Wayback Machine. The capture dates from 2019; you can also visit the original URL.
The file type is application/pdf.
algorithms for phenotype driven genomic discovery and diagnostics, integration of cross-species mapping efforts with the Mammalian Phenotype Ontology, an improved quality control pipeline, and the addition ...
Deep phenotyping has been defined as the precise and comprehensive analysis of phenotypic abnormalities in which the individual components of the phenotype are observed and described. ...
The views expressed in this publication are those of the authors and not necessarily those of the funding agencies involved. ...
doi:10.1093/nar/gkw1039
pmid:27899602
pmcid:PMC5210535
fatcat:55iggw3tzvei7ispy3gu6rwqum
Using Semantic Web Technologies to Build a Community-Driven Knowledge Curation Platform for the Skeletal Dysplasia Domain
[chapter]
2011
Lecture Notes in Computer Science
Preserved Fulltext
A copy of this work was available on the public web and has been preserved in the Wayback Machine. The capture dates from 2017; you can also visit the original URL.
The file type is application/pdf.
In this paper we report on our on-going efforts in building SKELETOME -a community-driven knowledge curation platform for the skeletal dysplasia domain. ...
SKELETOME introduces an ontologydriven knowledge engineering cycle that supports the continuous evolution of the domain knowledge. ...
Acknowledgments The work presented in this paper is supported by the Australian Research Council (ARC) under the Linkage grant SKELETOME -LP100100156. ...
doi:10.1007/978-3-642-25093-4_6
fatcat:2ei5szrkjbdjllx76mdb4yygy4
Capturing domain knowledge from multiple sources: the rare bone disorders use case
2015
Journal of Biomedical Semantics
Preserved Fulltext
A copy of this work was available on the public web and has been preserved in the Wayback Machine. The capture dates from 2017; you can also visit the original URL.
The file type is application/pdf.
We exemplify the approach in the rare bone disorders domain by proposing the Rare Bone Disorders Ontology (RBDO). ...
Lately, ontologies have become a fundamental building block in the process of formalising and storing complex biomedical information. ...
Acknowledgements This research is funded by the Australian Research Council (ARC) under the Discovery Early Career Researcher Award (DECRA) -DE120100508.
Author details ...
doi:10.1186/s13326-015-0008-2
pmid:25926964
pmcid:PMC4414390
fatcat:pkfol7iopjbqfiydyb7kikrdqa
Semantic Similarity-Driven Decision Support in the Skeletal Dysplasia Domain
[chapter]
2012
Lecture Notes in Computer Science
Preserved Fulltext
A copy of this work was available on the public web and has been preserved in the Wayback Machine. The capture dates from 2013; you can also visit the original URL.
The file type is application/pdf.
The outcome of this research enables us to understand the feasibility of developing decision support methods based on ontology-driven semantic similarity in the skeletal dysplasia domain. ...
In this paper, we focus on using such similarity measures to predict disorders on undiagnosed patient cases in the bone dysplasia domain. ...
Acknowledgments The work presented in this paper is supported by the Australian Research Council (ARC) under the Discovery Early Career Researcher Award (DECRA) -DE120100508 and the Linkage grant SKELETOME ...
doi:10.1007/978-3-642-35173-0_11
fatcat:ge427radlrezzf6q2khpdak7c4
Semantic interestingness measures for discovering association rules in the skeletal dysplasia domain
2014
Journal of Biomedical Semantics
Preserved Fulltext
The Internet Archive has a preservation copy of this work in our general collections.
The file type is application/pdf.
We apply the method in our domain of interest -bone dysplasias -using the core ontologies characterising it and an annotated dataset of patient clinical summaries, with the goal of discovering implicit ...
Lately, ontologies have become a fundamental building block in the process of formalising and storing complex biomedical information. ...
Acknowledgements We gratefully acknowledge the editor and anonymous reviewers whose comments and advices have helped us improve our manuscript. ...
doi:10.1186/2041-1480-5-8
pmid:24499729
pmcid:PMC3936824
fatcat:grysne55e5dnvl6nmhwnu2aryy
The radiologic diagnosis of skeletal dysplasias: past, present and future
2020
Pediatric Radiology
Preserved Fulltext
A copy of this work was available on the public web and has been preserved in the Wayback Machine. The capture dates from 2021; you can also visit the original URL.
The file type is application/pdf.
dysplasias, and by the recent explosion in identified genes. ...
This article provides a historical overview of aids to the radiologic diagnosis of skeletal dysplasias. ...
The Bone Dysplasia Ontology aims to integrate genotypic and phenotypic findings in skeletal dysplasias [35] , while the dynamic Radiological Electronic Atlas of Malformation Syndromes (dREAMS) [36] provides ...
doi:10.1007/s00247-019-04533-y
pmid:33135135
fatcat:uuokcii7arfxffvtsgfwqw4cw4
Whole Exome Sequencing with Comprehensive Gene Set Analysis Identified a Biparental-Origin Homozygous c.509G>A Mutation in PPIB Gene Clustered in Two Taiwanese Families Exhibiting Fetal Skeletal Dysplasia during Prenatal Ultrasound
2020
Diagnostics
Preserved Fulltext
A copy of this work was available on the public web and has been preserved in the Wayback Machine. The capture dates from 2020; you can also visit the original URL.
The file type is application/pdf.
Skeletal dysplasia (SD) is a complex group of bone and cartilage disorders often detectable by fetal ultrasound, but the definitive diagnosis remains challenging because the phenotypes are highly variable ...
Hundreds of genes are involved in the pathogenesis of SD, but most of them are yet to be elucidated, rendering genotyping almost infeasible except those most common such as fibroblast growth factor receptor ...
Conflicts of Interest: The authors declare no conflicts of interest. ...
doi:10.3390/diagnostics10050286
pmid:32392875
fatcat:aywcopah3banrnhwtjat4rlcme
Improving Disease Gene Prioritization by Comparing the Semantic Similarity of Phenotypes in Mice with Those of Human Diseases
2012
PLoS ONE
Preserved Fulltext
A copy of this work was available on the public web and has been preserved in the Wayback Machine. The capture dates from 2017; you can also visit the original URL.
The file type is application/pdf.
(using the Human Phenotype Ontology). ...
Furthermore, our method has been integrated in PhenomeNET and the results can be explored using the PhenomeBrowser at http://phenomebrowser.net. ...
The second report contains the information about genotypes and their observed phenotypes. The phenotypes are represented using the MP. ...
doi:10.1371/journal.pone.0038937
pmid:22719993
pmcid:PMC3375301
fatcat:ajsbuifb4bgxjkgqy3cgvotvnu
Insights in the etiopathology of galactosyltransferase II (GalT-II) deficiency from transcriptome-wide expression profiling of skin fibroblasts of two sisters with compound heterozygosity for two novel B3GALT6 mutations
2015
Molecular Genetics and Metabolism Reports
Preserved Fulltext
A copy of this work was available on the public web and has been preserved in the Wayback Machine. The capture dates from 2019; you can also visit the original URL.
The file type is application/pdf.
factors of the HOX and LIM families implicated in skeletal and limb development. ...
and homeostasis of various connective tissues, including skin, bone, cartilage, tendons, and ligaments, and generates the wide phenotypic spectrum of GalT-II-deficient patients. ...
Acknowledgments The authors thank the patients and their family for their kind availability for this study. ...
doi:10.1016/j.ymgmr.2014.11.005
pmid:28649518
pmcid:PMC5471164
fatcat:djnk6c7msfdphatnfusxf4dsbi
Compound heterozygous variants in NBAS as a cause of atypical osteogenesis imperfecta
2017
Bone
Preserved Fulltext
A copy of this work was available on the public web and has been preserved in the Wayback Machine. The capture dates from 2018; you can also visit the original URL.
The file type is application/pdf.
We explore the mechanism underlying NBAS and the striking skeletal phenotype in our patients. ...
Conclusions: Here we report on variants in NBAS, as a cause of bone fragility in humans, and expand the phenotypic spectrum associated with NBAS. ...
A dysplasia skeletal survey showed multiple Wormian bones, slender tubular bones and osteopenia (Figure 2a-d) . ...
doi:10.1016/j.bone.2016.10.023
pmid:27789416
pmcid:PMC6067660
fatcat:psjmnryuabgchimyoue746f334
Ciliary Signalling and Mechanotransduction in the Pathophysiology of Craniosynostosis
2021
Genes
Preserved Fulltext
A copy of this work was available on the public web and has been preserved in the Wayback Machine. The capture dates from 2021; you can also visit the original URL.
The file type is application/pdf.
In this review, we aimed to highlight the implication of the primary cilium components and active signalling in CS pathophysiology, dissecting their biological functions in craniofacial development and ...
Interestingly, a prevalent implication of midline sutures is observed in CS ciliopathies, possibly explained by the specific neural crest origin of the frontal bone. ...
Conflicts of Interest: The authors declare no conflict of interest. ...
doi:10.3390/genes12071073
pmid:34356089
pmcid:PMC8306115
fatcat:5ikp6p3krfh2xefd6wwwnrqjly
Guidelines for managing data and processes in bone and cartilage tissue engineering
2014
BMC Bioinformatics
Preserved Fulltext
The Internet Archive has a preservation copy of this work in our general collections.
The file type is application/pdf.
the domain knowledge and can provide a suitable means to integrate data across the field. ...
In this context, integration and meta-analysis approaches are gaining importance for analyses and reuse of data as, for example, those concerning the bone and cartilage biomarkers, the biomolecular factors ...
Acknowledgements This work has been supported by the Italian Ministry of Education and Research (MIUR) through Flagship "InterOmics" (PB05) and HIRMA (RBAP11YS7K) projects, and by the European ...
doi:10.1186/1471-2105-15-s1-s14
pmid:24564199
pmcid:PMC4015954
fatcat:pwnpjouzknbypcewtivy6uebhm
Regenerating zebrafish scales express a subset of evolutionary conserved genes involved in human skeletal disease
2022
BMC Biology
Preserved Fulltext
A copy of this work was available on the public web and has been preserved in the Wayback Machine. The capture dates from 2022; you can also visit the original URL.
The file type is application/pdf.
Hypergeometric tests involving monogenetic skeletal disorders showed that DEGs were strongly enriched for human orthologues that are mutated in low bone mass and abnormal bone mineralisation diseases ( ...
The DEGs were also enriched for human orthologues associated with polygenetic skeletal traits, including height (P< 6× 10−4), and estimated bone mineral density (eBMD, P< 2× 10−5). ...
We would like to thank Mathew Green and Pablo Peon Garcia for fish care at UoB, and Tom Spanings and Antoon van der Horst for fish care at RU. ...
doi:10.1186/s12915-021-01209-8
pmid:35057801
pmcid:PMC8780716
fatcat:ox2o35jvxvhdfoyqcr6fvzehle
« Previous
Showing results 1 — 15 out of 371 results