{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,2,21]],"date-time":"2025-02-21T02:48:03Z","timestamp":1740106083170,"version":"3.37.3"},"reference-count":21,"publisher":"Elsevier BV","license":[{"start":{"date-parts":[[2018,10,1]],"date-time":"2018-10-01T00:00:00Z","timestamp":1538352000000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"}],"funder":[{"name":"Interdisziplin\u00e4res Zentrum f\u00fcr Klinische Forschung Jena"},{"name":"Tom-Wahlig-Stiftung"},{"name":"Austrian Science Fond FWF","award":["P27634"],"award-info":[{"award-number":["P27634"]}]},{"DOI":"10.13039\/501100004061","name":"Oesterreichische Nationalbank","doi-asserted-by":"publisher","award":["16880"],"award-info":[{"award-number":["16880"]}],"id":[{"id":"10.13039\/501100004061","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["elsevier.com","sciencedirect.com"],"crossmark-restriction":true},"short-container-title":["Molecular and Cellular Probes"],"published-print":{"date-parts":[[2018,10]]},"DOI":"10.1016\/j.mcp.2018.08.005","type":"journal-article","created":{"date-parts":[[2018,8,21]],"date-time":"2018-08-21T02:53:36Z","timestamp":1534820016000},"page":"61-63","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":0,"special_numbering":"C","title":["Development and validation of a TTR-specific copy number screening tool, and application to potentially relevant patient cohorts"],"prefix":"10.1016","volume":"41","author":[{"given":"Amir","family":"Jahic","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Andrea","family":"Bock","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Franz","family":"Duca","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Diana","family":"Bonderman","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Julia","family":"Mascherbauer","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Reinhard","family":"Windhager","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Michaela","family":"Auer-Grumbach","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Christian","family":"Beetz","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"78","reference":[{"issue":"13","key":"10.1016\/j.mcp.2018.08.005_bib1","doi-asserted-by":"crossref","first-page":"898","DOI":"10.1056\/NEJM199709253371306","article-title":"The systemic amyloidoses","volume":"337","author":"Falk","year":"1997","journal-title":"N. Engl. J. Med."},{"key":"10.1016\/j.mcp.2018.08.005_bib2","doi-asserted-by":"crossref","first-page":"543","DOI":"10.1146\/annurev.med.51.1.543","article-title":"The genetics of the amyloidoses","volume":"51","author":"Buxbaum","year":"2000","journal-title":"Annu. Rev. Med."},{"issue":"3","key":"10.1016\/j.mcp.2018.08.005_bib3","doi-asserted-by":"crossref","first-page":"160","DOI":"10.3109\/13506120308998998","article-title":"Tabulation of human transthyretin (TTR) variants, 2003","volume":"10","author":"Connors","year":"2003","journal-title":"Amyloid"},{"issue":"1","key":"10.1016\/j.mcp.2018.08.005_bib4","doi-asserted-by":"crossref","first-page":"63","DOI":"10.1185\/03007995.2012.754348","article-title":"THAOS - the Transthyretin Amyloidosis Outcomes Survey: initial report on clinical manifestations in patients with hereditary and wild-type transthyretin amyloidosis","volume":"29","author":"Coelho","year":"2013","journal-title":"Curr. Med. Res. Opin."},{"issue":"8","key":"10.1016\/j.mcp.2018.08.005_bib5","doi-asserted-by":"crossref","first-page":"948","DOI":"10.1038\/ejhg.2010.36","article-title":"TTR familial amyloid polyneuropathy: does a mitochondrial polymorphism entirely explain the parent-of-origin difference in penetrance?","volume":"18","author":"Bonaiti","year":"2010","journal-title":"Eur. J. Hum. Genet."},{"issue":"Pt 4","key":"10.1016\/j.mcp.2018.08.005_bib6","doi-asserted-by":"crossref","first-page":"478","DOI":"10.1111\/j.1469-1809.2008.00439.x","article-title":"On the origin of the transthyretin Val30Met familial amyloid polyneuropathy","volume":"72","author":"Zaros","year":"2008","journal-title":"Ann. Hum. Genet."},{"issue":"4","key":"10.1016\/j.mcp.2018.08.005_bib7","doi-asserted-by":"crossref","first-page":"256","DOI":"10.3109\/13506129.2013.844689","article-title":"Functional variation of the transthyretin gene among human populations and its correlation with amyloidosis phenotypes","volume":"20","author":"Polimanti","year":"2013","journal-title":"Amyloid"},{"issue":"2","key":"10.1016\/j.mcp.2018.08.005_bib8","doi-asserted-by":"crossref","first-page":"73","DOI":"10.3109\/13506129.2014.994597","article-title":"Most recent common ancestor of TTR Val30Met mutation in Italian population and its potential role in genotype-phenotype correlation","volume":"22","author":"Iorio","year":"2015","journal-title":"Amyloid"},{"issue":"13","key":"10.1016\/j.mcp.2018.08.005_bib9","doi-asserted-by":"crossref","first-page":"1203","DOI":"10.1161\/CIRCULATIONAHA.108.843334","article-title":"Systemic cardiac amyloidoses: disease profiles and clinical courses of the 3 main types","volume":"120","author":"Rapezzi","year":"2009","journal-title":"Circulation"},{"issue":"24","key":"10.1016\/j.mcp.2018.08.005_bib10","doi-asserted-by":"crossref","first-page":"1895","DOI":"10.1093\/eurheartj\/ehx043","article-title":"Clinical characteristics of wild-type transthyretin cardiac amyloidosis: disproving myths","volume":"38","author":"Gonzalez-Lopez","year":"2017","journal-title":"Eur. Heart J."},{"issue":"1","key":"10.1016\/j.mcp.2018.08.005_bib11","doi-asserted-by":"crossref","first-page":"111","DOI":"10.1007\/s00439-014-1499-0","article-title":"Genetic variation of the transthyretin gene in wild-type transthyretin amyloidosis (ATTRwt)","volume":"134","author":"Sikora","year":"2015","journal-title":"Hum. Genet."},{"key":"10.1016\/j.mcp.2018.08.005_bib12","doi-asserted-by":"crossref","DOI":"10.1002\/0471142905.hg0714s51","article-title":"MLPA and MAPH: sensitive detection of deletions and duplications","volume":"7","author":"den Dunnen","year":"2006","journal-title":"Curr Protoc Hum Genet Chapter"},{"issue":"6","key":"10.1016\/j.mcp.2018.08.005_bib13","doi-asserted-by":"crossref","first-page":"513","DOI":"10.1002\/humu.20253","article-title":"High proportion of large genomic STK11 deletions in Peutz-Jeghers syndrome","volume":"26","author":"Aretz","year":"2005","journal-title":"Hum. Mutat."},{"issue":"11","key":"10.1016\/j.mcp.2018.08.005_bib14","doi-asserted-by":"crossref","first-page":"1926","DOI":"10.1212\/01.wnl.0000244413.49258.f5","article-title":"High frequency of partial SPAST deletions in autosomal dominant hereditary spastic paraplegia","volume":"67","author":"Beetz","year":"2006","journal-title":"Neurology"},{"key":"10.1016\/j.mcp.2018.08.005_bib15","doi-asserted-by":"crossref","first-page":"10424","DOI":"10.1038\/srep10424","article-title":"Analysis of large mutations in BARD1 in patients with breast and\/or ovarian cancer: the Polish population as an example","volume":"5","author":"Klonowska","year":"2015","journal-title":"Sci. Rep."},{"issue":"3","key":"10.1016\/j.mcp.2018.08.005_bib16","doi-asserted-by":"crossref","first-page":"607","DOI":"10.1016\/j.ajhg.2016.07.008","article-title":"Rare variants in MME, encoding metalloprotease neprilysin, are linked to late-onset autosomal-dominant axonal polyneuropathies","volume":"99","author":"Auer-Grumbach","year":"2016","journal-title":"Am. J. Hum. Genet."},{"issue":"4","key":"10.1016\/j.mcp.2018.08.005_bib17","doi-asserted-by":"crossref","first-page":"659","DOI":"10.1002\/ana.24612","article-title":"Mutations in MME cause an autosomal-recessive Charcot-Marie-Tooth disease type 2","volume":"79","author":"Higuchi","year":"2016","journal-title":"Ann. Neurol."},{"issue":"3","key":"10.1016\/j.mcp.2018.08.005_bib18","doi-asserted-by":"crossref","first-page":"399","DOI":"10.2144\/04373ST04","article-title":"Multiplex ligation-dependent probe amplification using a completely synthetic probe set","volume":"37","author":"Stern","year":"2004","journal-title":"Biotechniques"},{"issue":"1","key":"10.1016\/j.mcp.2018.08.005_bib19","doi-asserted-by":"crossref","first-page":"89","DOI":"10.1016\/j.gene.2011.12.005","article-title":"A homemade MLPA assay detects known CTNS mutations and identifies a novel deletion in a previously unresolved cystinosis family","volume":"495","author":"Kiehntopf","year":"2012","journal-title":"Gene"},{"issue":"2","key":"10.1016\/j.mcp.2018.08.005_bib20","doi-asserted-by":"crossref","first-page":"257","DOI":"10.1016\/j.gene.2014.05.072","article-title":"An MLPA-based approach for high-resolution genotyping of disease-related multi-allelic CNVs","volume":"546","author":"Marcinkowska-Swojak","year":"2014","journal-title":"Gene"},{"key":"10.1016\/j.mcp.2018.08.005_bib21","doi-asserted-by":"crossref","first-page":"451","DOI":"10.1146\/annurev.genom.9.081307.164217","article-title":"Copy number variation in human health, disease, and evolution","volume":"10","author":"Zhang","year":"2009","journal-title":"Annu. Rev. Genom. Hum. Genet."}],"container-title":["Molecular and Cellular Probes"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0890850818301816?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0890850818301816?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2018,9,20]],"date-time":"2018-09-20T15:45:47Z","timestamp":1537458347000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S0890850818301816"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2018,10]]},"references-count":21,"alternative-id":["S0890850818301816"],"URL":"https:\/\/doi.org\/10.1016\/j.mcp.2018.08.005","relation":{},"ISSN":["0890-8508"],"issn-type":[{"type":"print","value":"0890-8508"}],"subject":[],"published":{"date-parts":[[2018,10]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"Development and validation of a TTR-specific copy number screening tool, and application to potentially relevant patient cohorts","name":"articletitle","label":"Article Title"},{"value":"Molecular and Cellular Probes","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.mcp.2018.08.005","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"\u00a9 2018 Elsevier Ltd. All rights reserved.","name":"copyright","label":"Copyright"}]}}