{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2024,6,26]],"date-time":"2024-06-26T20:10:04Z","timestamp":1719432604464},"reference-count":23,"publisher":"Spandidos Publications","issue":"5","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2017,5]]},"DOI":"10.3892\/mmr.2017.7435","type":"journal-article","created":{"date-parts":[[2017,9,7]],"date-time":"2017-09-07T13:33:19Z","timestamp":1504791199000},"page":"6846-6849","source":"Crossref","is-referenced-by-count":1,"title":["Application of next-generation sequencing for molecular diagnosis in a large family with osteogenesis imperfecta type I"],"prefix":"10.3892","volume":"16","author":[{"given":"Mengxia","family":"Ni","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Hao","family":"Ding","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Shuaimei","family":"Liu","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Peiran","family":"Zhu","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Qiuyue","family":"Wu","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Weiwei","family":"Li","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jing","family":"Zhang","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Weijun","family":"Jiang","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Xinyi","family":"Xia","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"2249","published-online":{"date-parts":[[2017,9,7]]},"reference":[{"key":"key20180108003859_b1-mmr-16-05-6846","doi-asserted-by":"crossref","first-page":"716","DOI":"10.1002\/humu.9430","article-title":"Mutation analysis of COL1A1 and COL1A2 in patients diagnosed with osteogenesis imperfecta type I\u2013IV","volume":"27","author":"Pollitt","year":"2006","journal-title":"Hum Mutat"},{"key":"key20180108003859_b2-mmr-16-05-6846","doi-asserted-by":"crossref","first-page":"1657","DOI":"10.1016\/S0140-6736(15)00728-X","article-title":"Osteogenesis imperfecta","volume":"387","author":"Forlino","year":"2016","journal-title":"Lancet"},{"key":"key20180108003859_b3-mmr-16-05-6846","doi-asserted-by":"crossref","first-page":"1041","DOI":"10.1016\/S0140-6736(78)90763-8","article-title":"Classification of osteogenesis imperfecta","volume":"1","author":"Sillence","year":"1978","journal-title":"Lancet"},{"key":"key20180108003859_b4-mmr-16-05-6846","doi-asserted-by":"crossref","first-page":"148","DOI":"10.1016\/j.cca.2008.07.030","article-title":"A novel RNA-splicing mutation in COL1A1 gene causing osteogenesis imperfecta type I in a Chinese family","volume":"398","author":"Xia","year":"2008","journal-title":"Clin Chim Acta"},{"key":"key20180108003859_b5-mmr-16-05-6846","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":"key20180108003859_b6-mmr-16-05-6846","doi-asserted-by":"crossref","first-page":"69","DOI":"10.1007\/s00774-011-0284-6","article-title":"The identification of novel mutations in COL1A1, COL1A2, and LEPRE1 genes in Chinese patients with osteogenesis imperfect","volume":"30","author":"Zhang","year":"2012","journal-title":"J Bone Miner Metab"},{"key":"key20180108003859_b7-mmr-16-05-6846","doi-asserted-by":"crossref","first-page":"307","DOI":"10.1016\/j.ygeno.2007.12.008","article-title":"Natural variation in four human collagen genes across an ethnically diverse population","volume":"91","author":"Chan","year":"2008","journal-title":"Genomics"},{"key":"key20180108003859_b8-mmr-16-05-6846","doi-asserted-by":"crossref","first-page":"3331","DOI":"10.1007\/s00198-016-3653-0","article-title":"Skeletal phenotypes in adult patients with osteogenesis imperfecta-correlations with COL1A1\/COL1A2 genotype and collagen structure","volume":"27","author":"Hald","year":"2016","journal-title":"Osteoporos Int"},{"key":"key20180108003859_b9-mmr-16-05-6846","doi-asserted-by":"crossref","first-page":"1377","DOI":"10.1016\/S0140-6736(04)16051-0","article-title":"Osteogenesis imperfect","volume":"363","author":"Rauch","year":"2004","journal-title":"Lancet"},{"key":"key20180108003859_b10-mmr-16-05-6846","doi-asserted-by":"crossref","first-page":"1073","DOI":"10.1080\/14737159.2016.1222906","article-title":"Opportunities and technical challenges in next-generation sequencing for diagnosis of rare pediatric diseases","volume":"16","author":"Bacchelli","year":"2016","journal-title":"Expert Rev Mol Diagn"},{"key":"key20180108003859_b11-mmr-16-05-6846","doi-asserted-by":"crossref","first-page":"872","DOI":"10.1038\/ejhg.2010.23","article-title":"Stickler syndrome caused by COL2A1 mutations: Genotype-phenotype correlation in a series of 100 patients","volume":"18","author":"Hoornaert","year":"2010","journal-title":"Eur J Hum Genet"},{"key":"key20180108003859_b12-mmr-16-05-6846","doi-asserted-by":"crossref","first-page":"16061","DOI":"10.1074\/jbc.M801982200","article-title":"Defective C-propeptides of the proalpha2(I) chain of type I procollagen impede molecular assembly and result in osteogenesis imperfecta","volume":"283","author":"Pace","year":"2008","journal-title":"J Biol Chem"},{"key":"key20180108003859_b13-mmr-16-05-6846","doi-asserted-by":"crossref","first-page":"91","DOI":"10.1007\/s11914-007-0023-z","article-title":"Osteogenesis imperfecta: Epidemiology and pathophysiology","volume":"5","author":"Martin","year":"2007","journal-title":"Curr Osteoporos Rep"},{"key":"key20180108003859_b14-mmr-16-05-6846","doi-asserted-by":"crossref","first-page":"387","DOI":"10.1002\/humu.20455","article-title":"Three arginine to cysteine substitutions in the pro-alpha (I)-collagen chain cause Ehlers-Danlos syndrome with a propensity to arterial rupture in early adulthood","volume":"28","author":"Malfait","year":"2007","journal-title":"Hum Mutat"},{"key":"key20180108003859_b15-mmr-16-05-6846","doi-asserted-by":"crossref","first-page":"396","DOI":"10.1002\/humu.20456","article-title":"Y-position cysteine substitution in type I collagen (alpha1(I) R888C\/p.R1066C) is associated with osteogenesis imperfecta\/Ehlers-Danlos syndrome phenotype","volume":"28","author":"Cabral","year":"2007","journal-title":"Hum Mutat"},{"key":"key20180108003859_b16-mmr-16-05-6846","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 imperfect","volume":"25","author":"Rauch","year":"2010","journal-title":"J Bone Miner Res"},{"key":"key20180108003859_b17-mmr-16-05-6846","doi-asserted-by":"crossref","first-page":"434","DOI":"10.1002\/humu.1124","article-title":"Thirty-three novel COL1A1 and COL1A2 mutations in patients with osteogenesis imperfecta types I\u2013IV","volume":"17","author":"Ward","year":"2001","journal-title":"Hum Mutat"},{"key":"key20180108003859_b18-mmr-16-05-6846","first-page":"95","article-title":"COL1A1 Mutation analysis in Lithuanian patients with osteogenesis imperfecta","volume":"44","author":"Benusien\u00e9","year":"2003","journal-title":"J Appl Genet"},{"key":"key20180108003859_b19-mmr-16-05-6846","first-page":"1","volume-title":"Haploinsufficiency for mutations in type I collagen genes: Mechanisms and clinical effects","author":"Byers","year":"2013"},{"key":"key20180108003859_b20-mmr-16-05-6846","doi-asserted-by":"crossref","first-page":"2001","DOI":"10.1002\/jbmr.1942","article-title":"Skeletal clinical characteristics of osteogenesis imperfecta caused by haploinsufficiency mutations in COL1A1","volume":"28","author":"Ben Amor","year":"2013","journal-title":"J Bone Miner Res"},{"key":"key20180108003859_b21-mmr-16-05-6846","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1590\/S1415-475738120130336","article-title":"Identification of a novel COL1A1 frameshift mutation, c.700delG, in a Chinese osteogenesis imperfecta family","volume":"38","author":"Wang","year":"2015","journal-title":"Genet Mol Biol"},{"key":"key20180108003859_b22-mmr-16-05-6846","doi-asserted-by":"crossref","first-page":"4853","DOI":"10.1073\/pnas.75.10.4853","article-title":"Ovalbumin gene: Evidence for a leader sequence in mRNA and DNA sequences at the exon-intron boundaries","volume":"75","author":"Breathnach","journal-title":"Proc Natl Acad Sci USA"},{"key":"key20180108003859_b23-mmr-16-05-6846","doi-asserted-by":"crossref","first-page":"148","DOI":"10.1016\/j.cca.2008.07.030","article-title":"A novel RNA-splicing mutation in COL1A1 gene causing osteogenesis imperfecta type I in a Chinese family","volume":"398","author":"Xia","year":"2008","journal-title":"Clin Chim Acta"}],"container-title":["Molecular Medicine Reports"],"original-title":[],"language":"en","deposited":{"date-parts":[[2024,6,26]],"date-time":"2024-06-26T19:37:08Z","timestamp":1719430628000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.spandidos-publications.com\/10.3892\/mmr.2017.7435"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2017,5]]},"references-count":23,"journal-issue":{"issue":"5","published-online":{"date-parts":[[2017,9,7]]},"published-print":{"date-parts":[[2017,5]]}},"alternative-id":["10.3892\/mmr.2017.7435"],"URL":"https:\/\/doi.org\/10.3892\/mmr.2017.7435","relation":{},"ISSN":["1791-2997","1791-3004"],"issn-type":[{"value":"1791-2997","type":"print"},{"value":"1791-3004","type":"electronic"}],"subject":[],"published":{"date-parts":[[2017,5]]}}}