{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,11,7]],"date-time":"2026-11-07T02:56:00Z","timestamp":1794020160358,"version":"4.8.0"},"reference-count":37,"publisher":"Elsevier BV","issue":"9","license":[{"start":{"date-parts":[[2024,9,1]],"date-time":"2024-09-01T00:00:00Z","timestamp":1725148800000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2024,9,1]],"date-time":"2024-09-01T00:00:00Z","timestamp":1725148800000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/legal\/tdmrep-license"},{"start":{"date-parts":[[2025,9,1]],"date-time":"2025-09-01T00:00:00Z","timestamp":1756684800000},"content-version":"vor","delay-in-days":365,"URL":"http:\/\/www.elsevier.com\/open-access\/userlicense\/1.0\/"}],"content-domain":{"domain":["clinicalkey.com","clinicalkey.com.au","clinicalkey.es","clinicalkey.fr","clinicalkey.jp","jmdjournal.org","elsevier.com","sciencedirect.com"],"crossmark-restriction":true},"short-container-title":["The Journal of Molecular Diagnostics"],"published-print":{"date-parts":[[2024,9]]},"DOI":"10.1016\/j.jmoldx.2024.05.014","type":"journal-article","created":{"date-parts":[[2024,7,19]],"date-time":"2024-07-19T21:13:56Z","timestamp":1721423636000},"page":"754-769","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":8,"title":["Genotype and Phenotype Correlation of Patients with Osteogenesis Imperfecta"],"prefix":"10.1016","volume":"26","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-9436-9279","authenticated-orcid":false,"given":"Lamiya","family":"Aliyeva","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-5657-4260","authenticated-orcid":false,"given":"Yasemin Denkboy","family":"Ongen","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Erdal","family":"Eren","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mehmet B.","family":"Sarisozen","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-3070-9224","authenticated-orcid":false,"given":"Adem","family":"Alemdar","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-9802-0880","authenticated-orcid":false,"given":"Sehime G.","family":"Temel","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-3948-8889","authenticated-orcid":false,"given":"Sebnem Ozemri","family":"Sag","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"78","reference":[{"key":"10.1016\/j.jmoldx.2024.05.014_bib1","article-title":"Evolution of the present understanding of the clinical and genetic heterogeneity and molecular and biochemical basis of osteogenesis imperfecta","author":"Sillence","year":"2014","journal-title":"Osteogenesis Imperfecta, A Translation Approach to Brittle Bone Disease"},{"key":"10.1016\/j.jmoldx.2024.05.014_bib2","doi-asserted-by":"crossref","first-page":"275","DOI":"10.1038\/s41436-018-0045-1","article-title":"Growth characteristics in individuals with osteogenesis imperfecta in North America: results from a multicenter study","volume":"21","author":"Jain","year":"2019","journal-title":"Genet Med"},{"key":"10.1016\/j.jmoldx.2024.05.014_bib3","doi-asserted-by":"crossref","first-page":"251","DOI":"10.1136\/adc.2006.106120","article-title":"Unexplained fractures in infancy: looking for fragile bones","volume":"92","author":"Bishop","year":"2007","journal-title":"Arch Dis Child"},{"key":"10.1016\/j.jmoldx.2024.05.014_bib4","doi-asserted-by":"crossref","first-page":"1038","DOI":"10.1002\/ajmg.a.35246","article-title":"Clinical epidemiology of skeletal dysplasias in South America","volume":"158","author":"Barbosa-Buck","year":"2012","journal-title":"Am J Med Genet"},{"key":"10.1016\/j.jmoldx.2024.05.014_bib5","first-page":"113","article-title":"Clinical variability in osteogenesis imperfecta-variable expressivity or genetic heterogeneity","volume":"15","author":"Sillence","year":"1979","journal-title":"Birth Defects Orig Artic Ser"},{"key":"10.1016\/j.jmoldx.2024.05.014_bib6","article-title":"Clinical and genetic classification of osteogenesis imperfecta and epidemiology","author":"Saphiro","year":"2014","journal-title":"Osteogenesis Imperfecta, A Translation Approach to Brittle Bone Disease"},{"key":"10.1016\/j.jmoldx.2024.05.014_bib7","series-title":"COL1A1\/2 Osteogenesis Imperfecta","author":"Steiner","year":"1993"},{"key":"10.1016\/j.jmoldx.2024.05.014_bib8","doi-asserted-by":"crossref","first-page":"2869","DOI":"10.1002\/ajmg.a.37365","article-title":"Nosology and classification of genetic skeletal disorders: 2015 revision","volume":"167A","author":"Bonafe","year":"2015","journal-title":"Am J Med Genet A"},{"key":"10.1016\/j.jmoldx.2024.05.014_bib9","doi-asserted-by":"crossref","first-page":"85","DOI":"10.1016\/j.berh.2007.12.012","article-title":"Osteogenesis imperfecta","volume":"22","author":"Glorieux","year":"2008","journal-title":"Best Pract Res Clin Rheumatol"},{"key":"10.1016\/j.jmoldx.2024.05.014_bib10","doi-asserted-by":"crossref","first-page":"40","DOI":"10.1016\/j.bone.2017.02.004","article-title":"Genetic causes and mechanisms of osteogenesis imperfecta","volume":"102","author":"Lim","year":"2017","journal-title":"Bone"},{"key":"10.1016\/j.jmoldx.2024.05.014_bib11","doi-asserted-by":"crossref","first-page":"260","DOI":"10.1007\/BF02555258","article-title":"Osteonectin content in human osteogenesis imperfecta bone shows a range similar to that of two bovine models of OI","volume":"40","author":"Fisher","year":"1987","journal-title":"Calcif Tissue Int"},{"key":"10.1016\/j.jmoldx.2024.05.014_bib12","article-title":"Nosology and classification of osteogenesis imperfecta: 230 years of discovering genetic heterogeneity","author":"David","year":"2017","journal-title":"13th International Conference on Osteogenesis Imperfecta; August 27\u201330"},{"key":"10.1016\/j.jmoldx.2024.05.014_bib13","doi-asserted-by":"crossref","first-page":"943","DOI":"10.1002\/ajmg.a.33909","article-title":"Nosology and classification of genetic skeletal disorders: 2010 revision","volume":"155","author":"Warman","year":"2011","journal-title":"Am J Med Genet A"},{"key":"10.1016\/j.jmoldx.2024.05.014_bib14","doi-asserted-by":"crossref","first-page":"708","DOI":"10.1097\/MOP.0000000000000813","article-title":"Osteogenesis imperfecta: advancements in genetics and treatment","volume":"31","author":"Rossi","year":"2019","journal-title":"Curr Opin Pediatr"},{"key":"10.1016\/j.jmoldx.2024.05.014_bib15","doi-asserted-by":"crossref","first-page":"836","DOI":"10.1038\/nature02041","article-title":"Identification of the haematopoietic stem cell niche and control of the niche size","volume":"425","author":"Zhang","year":"2003","journal-title":"Nature"},{"key":"10.1016\/j.jmoldx.2024.05.014_bib16","doi-asserted-by":"crossref","first-page":"406","DOI":"10.1016\/j.ajhg.2009.02.002","article-title":"Mutations in BMP4 are associated with subepithelial, microform, and overt cleft lip","volume":"84","author":"Suzuki","year":"2009","journal-title":"Am J Hum Genet"},{"key":"10.1016\/j.jmoldx.2024.05.014_bib17","doi-asserted-by":"crossref","first-page":"299","DOI":"10.1038\/nm1712","article-title":"Dimorphic effects of notch signaling in bone homeostasis","volume":"14","author":"Engin","year":"2008","journal-title":"Nat Med"},{"key":"10.1016\/j.jmoldx.2024.05.014_bib18","doi-asserted-by":"crossref","first-page":"658","DOI":"10.1210\/er.2012-1026","article-title":"The osteocyte: an endocrine cell\u2026and more","volume":"34","author":"Dallas","year":"2013","journal-title":"Endocr Rev"},{"key":"10.1016\/j.jmoldx.2024.05.014_bib19","doi-asserted-by":"crossref","first-page":"405","DOI":"10.1038\/gim.2015.30","article-title":"Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology","volume":"17","author":"Richards","year":"2015","journal-title":"Genet Med"},{"key":"10.1016\/j.jmoldx.2024.05.014_bib20","doi-asserted-by":"crossref","first-page":"2985","DOI":"10.1007\/s00198-017-4143-8","article-title":"Gene mutation spectrum and genotype-phenotype correlation in a cohort of Chinese osteogenesis imperfecta patients revealed by targeted next generation sequencing","volume":"28","author":"Liu","year":"2017","journal-title":"Osteoporos Int"},{"key":"10.1016\/j.jmoldx.2024.05.014_bib21","first-page":"588","article-title":"Genotypic and phenotypic characterization of Chinese patients with osteogenesis imperfecta","volume":"40","author":"Li","year":"2019","journal-title":"Hum Mutat"},{"key":"10.1016\/j.jmoldx.2024.05.014_bib22","doi-asserted-by":"crossref","first-page":"141","DOI":"10.1016\/j.cca.2018.05.048","article-title":"Genotype-phenotype correlation among Malaysian patients with osteogenesis imperfecta","volume":"484","author":"Nawawi","year":"2018","journal-title":"Clin Chim Acta"},{"key":"10.1016\/j.jmoldx.2024.05.014_bib23","doi-asserted-by":"crossref","first-page":"2333","DOI":"10.1007\/s00198-019-05076-6","article-title":"Comprehensive genetic analyses using targeted next-generation sequencing and genotypephenotype correlations in 53 Japanese patients with osteogenesis imperfecta","volume":"30","author":"Ohata","year":"2019","journal-title":"Osteoporos Int"},{"key":"10.1016\/j.jmoldx.2024.05.014_bib24","doi-asserted-by":"crossref","first-page":"1090","DOI":"10.1038\/s41431-019-0373-x","article-title":"Genotype\u2013phenotype correlation study in 364 osteogenesis imperfecta Italian patients","volume":"27","author":"Maioli","year":"2019","journal-title":"Eur J Hum Genet"},{"key":"10.1016\/j.jmoldx.2024.05.014_bib25","doi-asserted-by":"crossref","first-page":"1042","DOI":"10.1038\/ejhg.2015.81","article-title":"Genetic epidemiology, prevalence, and genotype\u2013phenotype correlations in the Swedish population with osteogenesis imperfecta","volume":"23","author":"Lindahl","year":"2015","journal-title":"Eur J Hum Genet"},{"key":"10.1016\/j.jmoldx.2024.05.014_bib26","doi-asserted-by":"crossref","first-page":"1367","DOI":"10.1359\/jbmr.091109","article-title":"Relationship between genotype and skeletal phenotype in children and adolescents with osteogenesis imperfecta","volume":"25","author":"Rauch","year":"2010","journal-title":"J Bone Miner Res"},{"key":"10.1016\/j.jmoldx.2024.05.014_bib27","doi-asserted-by":"crossref","first-page":"209","DOI":"10.1002\/humu.20429","article-title":"Consortium for osteogenesis imperfecta mutations in the helical domain of type I collagen: regions rich in lethal mutations align with collagen binding sites for integrins and proteoglycans","volume":"28","author":"Marini","year":"2007","journal-title":"Hum Mutat"},{"key":"10.1016\/j.jmoldx.2024.05.014_bib28","doi-asserted-by":"crossref","first-page":"353","DOI":"10.1007\/s00223-018-0414-4","article-title":"Autosomal recessive osteogenesis imperfecta caused by a novel homozygous COL1A2 mutation","volume":"103","author":"Costantini","year":"2018","journal-title":"Calcif Tissue Int"},{"key":"10.1016\/j.jmoldx.2024.05.014_bib29","doi-asserted-by":"crossref","first-page":"389","DOI":"10.1016\/j.ajhg.2010.01.034","article-title":"Homozygosity for a missense mutation in SERPINH1, which encodes the collagen chaperone protein HSP47, results in severe recessive osteogenesis imperfecta","volume":"86","author":"Christiansen","year":"2010","journal-title":"Am J Hum Genet"},{"key":"10.1016\/j.jmoldx.2024.05.014_bib30","doi-asserted-by":"crossref","DOI":"10.4238\/gmr.15038665","article-title":"Analysis of FKBP10, SERPINH1, and SERPINF1 genes in patients with osteogenesis imperfecta","volume":"15","author":"Barbirato","year":"2016","journal-title":"Genet Mol Res"},{"key":"10.1016\/j.jmoldx.2024.05.014_bib31","doi-asserted-by":"crossref","first-page":"306","DOI":"10.1016\/j.ajhg.2010.05.020","article-title":"FKBP10 and Bruck syndrome: phenotypic heterogeneity or call for reclassification?","volume":"87","author":"Shaheen","year":"2010","journal-title":"Am J Hum Genet"},{"key":"10.1016\/j.jmoldx.2024.05.014_bib32","doi-asserted-by":"crossref","first-page":"308","DOI":"10.1016\/j.ajhg.2010.07.015","article-title":"Response to Shaheen et\u00a0al. (Letter)","volume":"87","author":"Alanay","year":"2010","journal-title":"Am J Hum Genet"},{"key":"10.1016\/j.jmoldx.2024.05.014_bib33","series-title":"Investigation of Targeted Molecular Genetic Diagnosis and Identification of Responsible New Genes in Patients with Osteogenesis Imperfecta Using Next-Generation Sequencing Method. Doctoral Thesis","author":"Samim","year":"2020"},{"key":"10.1016\/j.jmoldx.2024.05.014_bib34","series-title":"Investigation of Genes Associated With Osteogenesis Imperfecta Patients Using Next-Generation Sequencing Technology and Exploration of Unknown Genes. Doctoral Thesis","author":"Leyla","year":"2019"},{"key":"10.1016\/j.jmoldx.2024.05.014_bib35","doi-asserted-by":"crossref","first-page":"344","DOI":"10.1590\/1678-4685-gmb-2018-0043","article-title":"Osteogenesis imperfecta in Brazilian patients","volume":"42","author":"Trancozo","year":"2019","journal-title":"Genet Mol Biol"},{"key":"10.1016\/j.jmoldx.2024.05.014_bib36","doi-asserted-by":"crossref","first-page":"21","DOI":"10.1136\/jmedgenet-2012-101307","article-title":"Osteogenesis imperfecta type V: marked phenotypic variability despite the presence of the IFITM5 c.\u221214C>T mutation in all patients","volume":"50","author":"Rauch","year":"2013","journal-title":"J Med Genet"},{"key":"10.1016\/j.jmoldx.2024.05.014_bib37","doi-asserted-by":"crossref","first-page":"1529","DOI":"10.1056\/NEJMoa1308223","article-title":"PLS3 mutations in X-linked osteoporosis with fractures","volume":"369","author":"Van Dijk","year":"2013","journal-title":"N Engl J Med"}],"container-title":["The Journal of Molecular Diagnostics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S1525157824001533?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S1525157824001533?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2025,9,1]],"date-time":"2025-09-01T01:16:47Z","timestamp":1756689407000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S1525157824001533"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2024,9]]},"references-count":37,"journal-issue":{"issue":"9","published-print":{"date-parts":[[2024,9]]}},"alternative-id":["S1525157824001533"],"URL":"https:\/\/doi.org\/10.1016\/j.jmoldx.2024.05.014","relation":{},"ISSN":["1525-1578"],"issn-type":[{"value":"1525-1578","type":"print"}],"subject":[],"published":{"date-parts":[[2024,9]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"Genotype and Phenotype Correlation of Patients with Osteogenesis Imperfecta","name":"articletitle","label":"Article Title"},{"value":"The Journal of Molecular Diagnostics","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.jmoldx.2024.05.014","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"\u00a9 2024 Association for Molecular Pathology and American Society for Investigative Pathology. Published by Elsevier Inc.","name":"copyright","label":"Copyright"}]}}