1. OAR@UM
  2. Faculty of Health Sciences
  3. Department of Applied Biomedical Sciences
  4. Scholarly Works - FacHScABS
Please use this identifier to cite or link to this item: https://www.um.edu.mt/library/oar/handle/123456789/93074
Full metadata record
DC FieldValueLanguage
dc.contributor.authorCilia, Chanelle-
dc.contributor.authorFriggieri, Donald-
dc.contributor.authorVassallo, Josanne-
dc.contributor.authorXuereb-Anastasi, Angela-
dc.contributor.authorFormosa, Melissa Marie-
dc.date.accessioned2022-04-06T06:07:52Z-
dc.date.available2022-04-06T06:07:52Z-
dc.date.issued2022-02-
dc.identifier.citationCilia, C., Friggieri, D., Vassallo, J., Xuereb-Anastasi, A., & Formosa, M. (2022). Whole genome sequencing identifies novel genetic variants in early-onset familial osteoporosis. Journal of Bone and Mineral Research, 37(s1), 106.en_GB
dc.identifier.urihttps://www.um.edu.mt/library/oar/handle/123456789/93074-
dc.description.abstractOBJECTIVE: Osteoporosis is a metabolic skeletal disease having a strong genetic back-ground. The study aimed to identify genetic determinants underlying early-onset osteo-porosis in a Maltese family.en_GB
dc.description.abstractMETHODS: A 2-generation pedigree of 15 relatives with ages ranging from 28-74 years was recruited. Osteoporosis was defined using DXA scans of the lumbar spine (LS) and femoral neck (FN). The proband, a 31-year-old male, had a LS and FN Z-score of -3.6 and -2.3 respectively. Whole genome sequencing was conducted on 12 relatives and shortlisted variants were tested using Competitive Allele Specific PCR and PCR with restriction digest in the Malta Osteoporotic Fracture Study (MOFS), a case-con-trol collection of 1045 postmenopausal women.en_GB
dc.description.abstract[excerpt]en_GB
dc.language.isoenen_GB
dc.publisherJohn Wiley & Sons, Inc.en_GB
dc.rightsinfo:eu-repo/semantics/restrictedAccessen_GB
dc.subjectOsteoporosis -- Genetic aspectsen_GB
dc.subjectWhole genome sequencingen_GB
dc.subjectBone diseases, metabolicen_GB
dc.subjectBones -- Diseasesen_GB
dc.titleWhole genome sequencing identifies novel genetic variants in early-onset familial osteoporosisen_GB
dc.typearticleen_GB
dc.rights.holderThe copyright of this work belongs to the author(s)/publisher. The rights of this work are as defined by the appropriate Copyright Legislation or as modified by any successive legislation. Users may access this work and can make use of the information contained in accordance with the Copyright Legislation provided that the author must be properly acknowledged. Further distribution or reproduction in any format is prohibited without the prior permission of the copyright holder.en_GB
dc.bibliographicCitation.conferencenameASBMR 2021 Annual Meetingen_GB
dc.bibliographicCitation.conferenceplaceOnline, 1-4/10/2021en_GB
dc.description.reviewedpeer-revieweden_GB
dc.publication.titleJournal of Bone and Mineral Researchen_GB
Appears in Collections:Scholarly Works - FacHScABS

Files in This Item:
File Description SizeFormat 
Whole genome sequencing identifies novel genetic variants in early-onset familial osteoporosis.pdf
  Restricted Access		342.08 kBAdobe PDFView/Open Request a copy
Show simple item record Statistics


Items in OAR@UM are protected by copyright, with all rights reserved, unless otherwise indicated.