{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,14]],"date-time":"2026-10-14T12:57:45Z","timestamp":1791982665546,"version":"4.4.0"},"reference-count":35,"publisher":"Elsevier BV","issue":"6","license":[{"start":{"date-parts":[[2014,11,1]],"date-time":"2014-11-01T00:00:00Z","timestamp":1414800000000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2014,7,16]],"date-time":"2014-07-16T00:00:00Z","timestamp":1405468800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0\/"}],"content-domain":{"domain":["elsevier.com","sciencedirect.com"],"crossmark-restriction":true},"short-container-title":["Jornal de Pediatria"],"published-print":{"date-parts":[[2014,11]]},"DOI":"10.1016\/j.jped.2014.05.003","type":"journal-article","created":{"date-parts":[[2014,7,18]],"date-time":"2014-07-18T17:30:18Z","timestamp":1405704618000},"page":"536-541","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":99,"title":["What is new in genetics and osteogenesis imperfecta classification?"],"prefix":"10.1016","volume":"90","author":[{"given":"Eug\u00eania R.","family":"Valadares","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"T\u00falio B.","family":"Carneiro","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Paula M.","family":"Santos","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ana Cristina","family":"Oliveira","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Bernhard","family":"Zabel","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"78","reference":[{"key":"10.1016\/j.jped.2014.05.003_bib0005","doi-asserted-by":"crossref","first-page":"540","DOI":"10.1038\/nrendo.2011.81","article-title":"New perspectives on osteogenesis imperfecta","volume":"7","author":"Forlino","year":"2011","journal-title":"Nat Rev Endocrinol."},{"key":"10.1016\/j.jped.2014.05.003_bib0010","first-page":"235","article-title":"The molecular pathology of osteogenesis imperfecta","volume":"343","author":"Cole","year":"1997","journal-title":"Clin Orthop Relat Res."},{"key":"10.1016\/j.jped.2014.05.003_bib0015","doi-asserted-by":"crossref","first-page":"433","DOI":"10.1136\/jmg.28.7.433","article-title":"Osteogenesis imperfecta: translation of mutation to phenotype","volume":"28","author":"Byers","year":"1991","journal-title":"J Med Genet."},{"key":"10.1016\/j.jped.2014.05.003_bib0020","doi-asserted-by":"crossref","first-page":"131","DOI":"10.1038\/332131a0","article-title":"Perinatal lethal in transgenic mice bearing an engineered mutant pro-[alpha]1(I) collagen gene","volume":"332","author":"Stacey","year":"1988","journal-title":"Nature."},{"key":"10.1016\/j.jped.2014.05.003_bib0025","doi-asserted-by":"crossref","first-page":"284","DOI":"10.1136\/jmg.32.4.284","article-title":"Perinatal lethal osteogenesis","volume":"32","author":"Cole","year":"1995","journal-title":"J Med Genet."},{"key":"10.1016\/j.jped.2014.05.003_bib0030","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.jped.2014.05.003_bib0035","unstructured":"Online Mendelian Inheritance in Man, OMIM\u00ae. McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University (Baltimore, MD), [cited 14 Mar 2014]. Available from: http:\/\/omim.org\/."},{"key":"10.1016\/j.jped.2014.05.003_bib0040","doi-asserted-by":"crossref","first-page":"101","DOI":"10.1136\/jmg.16.2.101","article-title":"Genetic heterogeneity in osteogenesis imperfecta","volume":"16","author":"Sillence","year":"1979","journal-title":"J Med Genet."},{"key":"10.1016\/j.jped.2014.05.003_bib0045","doi-asserted-by":"crossref","first-page":"11","DOI":"10.1097\/00003086-198109000-00004","article-title":"Osteogenesis imperfect: an expanding panorama of variants","volume":"159","author":"Sillence","year":"1981","journal-title":"Clin Ortop."},{"key":"10.1016\/j.jped.2014.05.003_bib0050","doi-asserted-by":"crossref","first-page":"3095","DOI":"10.1210\/jc.2013-1505","article-title":"New genes in bone development: what's new in osteogenesis imperfecta","volume":"98","author":"Marini","year":"2013","journal-title":"J Clin Endocrinol Metab."},{"key":"10.1016\/j.jped.2014.05.003_bib0055","doi-asserted-by":"crossref","first-page":"1650","DOI":"10.1359\/jbmr.2000.15.9.1650","article-title":"Type V osteogenesis imperfecta: a new form of brittle bone disease","volume":"15","author":"Glorieux","year":"2000","journal-title":"J Bone Miner Res."},{"key":"10.1016\/j.jped.2014.05.003_bib0060","doi-asserted-by":"crossref","first-page":"349","DOI":"10.1016\/j.ajhg.2012.06.011","article-title":"A mutation in the 5\u2032-UTR of IFITM5 creates an in-frame start codon and causes autosomal-dominant osteogenesis imperfecta type V with hyperplastic callus","volume":"91","author":"Semler","year":"2012","journal-title":"Am J Hum Genet."},{"key":"10.1016\/j.jped.2014.05.003_bib0065","doi-asserted-by":"crossref","first-page":"343","DOI":"10.1016\/j.ajhg.2012.06.005","article-title":"A single recurrent mutation in the 5\u2019-UTR of IFITM5 causes osteogenesis imperfecta type V","volume":"91","author":"Cho","year":"2012","journal-title":"Am J Hum Genet."},{"key":"10.1016\/j.jped.2014.05.003_bib0070","doi-asserted-by":"crossref","first-page":"93","DOI":"10.1097\/MCD.0b013e32836032f0","article-title":"Genotype-phenotype study in type V osteogenesis imperfecta","volume":"22","author":"Balasubramanian","year":"2013","journal-title":"Clin Dysmorphol."},{"key":"10.1016\/j.jped.2014.05.003_bib0075","doi-asserted-by":"crossref","first-page":"2757","DOI":"10.1056\/NEJMoa063804","article-title":"Deficiency of cartilage-associated protein in recessive lethal osteogenesis imperfecta","volume":"355","author":"Barnes","year":"2006","journal-title":"N Engl J Med."},{"key":"10.1016\/j.jped.2014.05.003_bib0080","doi-asserted-by":"crossref","first-page":"362","DOI":"10.1016\/j.ajhg.2011.01.015","volume":"88","author":"Becker","year":"2011","journal-title":"Am J Hum Genet."},{"key":"10.1016\/j.jped.2014.05.003_bib0085","doi-asserted-by":"crossref","first-page":"30","DOI":"10.1359\/jbmr.2002.17.1.30","article-title":"Osteogenesis imperfecta type VI: a form of brittle bone disease with a mineralization defect","volume":"17","author":"Glorieux","year":"2002","journal-title":"J Bone Miner Res."},{"key":"10.1016\/j.jped.2014.05.003_bib0090","doi-asserted-by":"crossref","first-page":"359","DOI":"10.1038\/ng1968","article-title":"Prolyl 3-hydroxylase 1 deficiency causes a recessive metabolic bone disorder resembling lethal\/severe osteogenesis imperfecta","volume":"39","author":"Cabral","year":"2007","journal-title":"Nature Genet."},{"key":"10.1016\/j.jped.2014.05.003_bib0095","doi-asserted-by":"crossref","first-page":"521","DOI":"10.1016\/j.ajhg.2009.09.001","article-title":"PPIB mutations cause severe osteogenesis imperfecta","volume":"85","author":"van Dijk","year":"2009","journal-title":"Am J Hum Genet."},{"key":"10.1016\/j.jped.2014.05.003_bib0100","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.jped.2014.05.003_bib0105","doi-asserted-by":"crossref","first-page":"551","DOI":"10.1016\/j.ajhg.2010.02.022","article-title":"Mutations in the gene encoding the RER protein FKBP65 cause autosomal-recessive osteogenesis imperfecta","volume":"86","author":"Alanay","year":"2010","journal-title":"Am J Hum Genet."},{"key":"10.1016\/j.jped.2014.05.003_bib0110","doi-asserted-by":"crossref","first-page":"666","DOI":"10.1002\/jbmr.250","article-title":"Mutations in FKBP10 cause recessive osteogenesis imperfecta and Bruck syndrome","volume":"26","author":"Kelley","year":"2011","journal-title":"J Bone Miner Res."},{"key":"10.1016\/j.jped.2014.05.003_bib0115","doi-asserted-by":"crossref","first-page":"1448","DOI":"10.1002\/ajmg.a.34025","article-title":"Mutations in FKPB10 cause both Bruck syndrome and isolated osteogenesis imperfecta in humans","volume":"155A","author":"Shaheen","year":"2011","journal-title":"Am J Med Genet."},{"key":"10.1016\/j.jped.2014.05.003_bib0120","doi-asserted-by":"crossref","first-page":"110","DOI":"10.1016\/j.ajhg.2010.05.016","article-title":"Identification of a frameshift mutation in Osterix in a patient with recessive osteogenesis imperfecta","volume":"87","author":"Lapunzina","year":"2010","journal-title":"Am J Hum Genet."},{"key":"10.1016\/j.jped.2014.05.003_bib0125","doi-asserted-by":"crossref","first-page":"661","DOI":"10.1016\/j.ajhg.2012.02.026","article-title":"Attenuated BMP1 function compromises osteogenesis, leading to bone fragility in humans and zebrafish","volume":"90","author":"Asharani","year":"2012","journal-title":"Am J Hum Genet."},{"key":"10.1016\/j.jped.2014.05.003_bib0130","doi-asserted-by":"crossref","first-page":"343","DOI":"10.1002\/humu.21647","article-title":"Identification of a mutation causing deficient BMP1\/mTLD proteolytic activity in autosomal recessive osteogenesis imperfecta","volume":"33","author":"Martinez-Glez","year":"2012","journal-title":"Hum Mutat."},{"key":"10.1016\/j.jped.2014.05.003_bib0135","doi-asserted-by":"crossref","first-page":"630","DOI":"10.1136\/jmedgenet-2012-101142","article-title":"Study of autosomal recessive osteogenesis imperfecta in Arabia reveals a novel locus defined by TMEM38B mutation","volume":"49","author":"Shaheen","year":"2012","journal-title":"J Med Genet."},{"key":"10.1016\/j.jped.2014.05.003_bib0140","doi-asserted-by":"crossref","first-page":"345","DOI":"10.1136\/jmedgenet-2013-101567","article-title":"Mutations in WNT1 are a cause of osteogenesis imperfecta","volume":"50","author":"Fahiminiya","year":"2013","journal-title":"J Med Genet."},{"key":"10.1016\/j.jped.2014.05.003_bib0150","doi-asserted-by":"crossref","first-page":"590","DOI":"10.1016\/j.ajhg.2013.02.009","article-title":"WNT1 Mutations in families affected by moderately severe and progressive recessive Osteogenesis Imperfecta","volume":"92","author":"Pyott","year":"2013","journal-title":"Am J Hum Genet."},{"key":"10.1016\/j.jped.2014.05.003_bib0155","doi-asserted-by":"crossref","first-page":"565","DOI":"10.1016\/j.ajhg.2013.02.010","article-title":"Mutations in WNT1 cause different forms of bone fragility","volume":"92","author":"Keupp","year":"2013","journal-title":"Am J Hum Genet."},{"key":"10.1016\/j.jped.2014.05.003_bib0160","doi-asserted-by":"crossref","first-page":"1354","DOI":"10.1002\/ajmg.a.35938","article-title":"Clinical and molecular analysis in families with autosomal recessive osteogenesis imperfect identifies mutations in five genes and suggests genotype\u2013phenotype correlations","volume":"161A","author":"Caparr\u00f3s-Martin","year":"2013","journal-title":"Am J Med Genet Part A."},{"key":"10.1016\/j.jped.2014.05.003_bib0165","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."},{"key":"10.1016\/j.jped.2014.05.003_bib0170","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1016\/j.ejmg.2009.10.007","article-title":"Classification of osteogenesis imperfecta revisited","volume":"53","author":"van Dijk","year":"2010","journal-title":"Eur J Med Genet."},{"key":"10.1016\/j.jped.2014.05.003_bib0175","doi-asserted-by":"crossref","first-page":"11","DOI":"10.1038\/ejhg.2011.141","article-title":"EMQN best practice guidelines for the laboratory diagnosis of osteogenesis imperfect","volume":"20","author":"van Dijk","year":"2012","journal-title":"Eur J Hum Genet."},{"key":"10.1016\/j.jped.2014.05.003_bib0180","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":"155A","author":"Warman","year":"2011","journal-title":"Am J Med Genet A."}],"container-title":["Jornal de Pediatria"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0021755714001016?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0021755714001016?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2022,4,11]],"date-time":"2022-04-11T13:07:49Z","timestamp":1649682469000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S0021755714001016"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2014,11]]},"references-count":35,"journal-issue":{"issue":"6","published-print":{"date-parts":[[2014,11]]}},"alternative-id":["S0021755714001016"],"URL":"https:\/\/doi.org\/10.1016\/j.jped.2014.05.003","relation":{},"ISSN":["0021-7557"],"issn-type":[{"value":"0021-7557","type":"print"}],"subject":[],"published":{"date-parts":[[2014,11]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"What is new in genetics and osteogenesis imperfecta classification?","name":"articletitle","label":"Article Title"},{"value":"Jornal de Pediatria","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.jped.2014.05.003","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"Copyright \u00a9 2014 Sociedade Brasileira de Pediatria. Published by Elsevier Editora Ltda.","name":"copyright","label":"Copyright"}]}}