{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,5]],"date-time":"2026-10-05T18:04:43Z","timestamp":1791223483233,"version":"4.1.0"},"reference-count":31,"publisher":"Elsevier BV","issue":"1-3","license":[{"start":{"date-parts":[[2012,6,1]],"date-time":"2012-06-01T00:00:00Z","timestamp":1338508800000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Forensic Science International"],"published-print":{"date-parts":[[2012,6]]},"DOI":"10.1016\/j.forsciint.2012.01.018","type":"journal-article","created":{"date-parts":[[2012,2,21]],"date-time":"2012-02-21T22:31:27Z","timestamp":1329863487000},"page":"278-281","source":"Crossref","is-referenced-by-count":48,"title":["Sarcomeric gene mutations in sudden infant death syndrome (SIDS)"],"prefix":"10.1016","volume":"219","author":[{"given":"Maria","family":"Brion","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Catarina","family":"Allegue","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Montserrat","family":"Santori","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Rocio","family":"Gil","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alejandro","family":"Blanco-Verea","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Cordula","family":"Haas","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Christine","family":"Bartsch","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Simone","family":"Poster","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Burkhard","family":"Madea","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Oscar","family":"Campuzano","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ramon","family":"Brugada","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Angel","family":"Carracedo","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"78","reference":[{"issue":"1","key":"10.1016\/j.forsciint.2012.01.018_bib0005","doi-asserted-by":"crossref","first-page":"234","DOI":"10.1542\/peds.114.1.234","article-title":"Sudden infant death syndrome and unclassified sudden infant deaths: a definitional and diagnostic approach","volume":"114","author":"Krous","year":"2004","journal-title":"Pediatrics"},{"key":"10.1016\/j.forsciint.2012.01.018_bib0010","doi-asserted-by":"crossref","first-page":"1578","DOI":"10.1016\/S0140-6736(07)61662-6","article-title":"Sudden infant death syndrome","volume":"370","author":"Moon","year":"2007","journal-title":"Lancet"},{"issue":"8","key":"10.1016\/j.forsciint.2012.01.018_bib0015","doi-asserted-by":"crossref","first-page":"771","DOI":"10.1002\/ajmg.a.31722","article-title":"Sudden infant death syndrome: review of implicated genetic factors","volume":"143A","author":"Weese-Mayer","year":"2007","journal-title":"Am. J. Med. Genet. A"},{"issue":"3","key":"10.1016\/j.forsciint.2012.01.018_bib0020","doi-asserted-by":"crossref","first-page":"660","DOI":"10.1542\/peds.2007-0135","article-title":"International trends in sudden infant death syndrome: stabilization of rates requires further action","volume":"122","author":"Hauck","year":"2008","journal-title":"Pediatrics"},{"issue":"18","key":"10.1016\/j.forsciint.2012.01.018_bib0025","doi-asserted-by":"crossref","first-page":"2264","DOI":"10.1001\/jama.286.18.2264","article-title":"Postmortem molecular analysis of SCN5A defects in sudden infant death syndrome","volume":"286","author":"Ackerman","year":"2001","journal-title":"JAMA"},{"issue":"3","key":"10.1016\/j.forsciint.2012.01.018_bib0030","doi-asserted-by":"crossref","first-page":"388","DOI":"10.1016\/j.cardiores.2005.02.013","article-title":"Sudden infant death syndrome: how significant are the cardiac channelopathies?","volume":"67","author":"Tester","year":"2005","journal-title":"Cardiovasc. Res."},{"issue":"3","key":"10.1016\/j.forsciint.2012.01.018_bib0035","doi-asserted-by":"crossref","first-page":"361","DOI":"10.1161\/CIRCULATIONAHA.106.658021","article-title":"Prevalence of long-QT syndrome gene variants in sudden infant death syndrome","volume":"115","author":"Arnestad","year":"2007","journal-title":"Circulation"},{"issue":"2","key":"10.1016\/j.forsciint.2012.01.018_bib0040","doi-asserted-by":"crossref","first-page":"161","DOI":"10.1016\/j.hrthm.2006.11.030","article-title":"Novel mechanism for sudden infant death syndrome: persistent late sodium current secondary to mutations in caveolin-3","volume":"4","author":"Cronk","year":"2007","journal-title":"Heart Rhythm"},{"issue":"3","key":"10.1016\/j.forsciint.2012.01.018_bib0045","doi-asserted-by":"crossref","first-page":"238","DOI":"10.1002\/ajmg.a.20427","article-title":"Association of the serotonin transporter gene with sudden infant death syndrome: a haplotype analysis","volume":"122A","author":"Weese-Mayer","year":"2003","journal-title":"Am. J. Med. Genet. A"},{"issue":"3","key":"10.1016\/j.forsciint.2012.01.018_bib0050","doi-asserted-by":"crossref","first-page":"391","DOI":"10.1203\/01.PDR.0000136285.91048.4A","article-title":"Sudden infant death syndrome: case-control frequency differences at genes pertinent to early autonomic nervous system embryologic development","volume":"56","author":"Weese-Mayer","year":"2004","journal-title":"Pediatr. Res."},{"issue":"13","key":"10.1016\/j.forsciint.2012.01.018_bib0055","doi-asserted-by":"crossref","first-page":"1447","DOI":"10.1002\/ajmg.a.31306","article-title":"Nicotine metabolizing genes GSTT1 and CYP1A1 in sudden infant death syndrome","volume":"140","author":"Rand","year":"2006","journal-title":"Am. J. Med. Genet. A"},{"issue":"12","key":"10.1016\/j.forsciint.2012.01.018_bib0060","doi-asserted-by":"crossref","first-page":"1183","DOI":"10.1016\/j.humimm.2003.08.359","article-title":"IL-10 gene polymorphisms are associated with infectious cause of sudden infant death","volume":"64","author":"Opdal","year":"2003","journal-title":"Hum. Immunol."},{"issue":"9437","key":"10.1016\/j.forsciint.2012.01.018_bib0065","doi-asserted-by":"crossref","first-page":"825","DOI":"10.1016\/S0140-6736(04)16998-5","article-title":"New insight into sudden infant-death syndrome","volume":"364","author":"Opdal","year":"2004","journal-title":"Lancet"},{"issue":"8","key":"10.1016\/j.forsciint.2012.01.018_bib0070","doi-asserted-by":"crossref","first-page":"610","DOI":"10.1007\/s00109-005-0666-0","article-title":"Identification of novel polymorphisms in the glucokinase and glucose-6-phosphatase genes in infants who died suddenly and unexpectedly","volume":"83","author":"Forsyth","year":"2005","journal-title":"J. Mol. Med."},{"issue":"2","key":"10.1016\/j.forsciint.2012.01.018_bib0075","doi-asserted-by":"crossref","first-page":"211","DOI":"10.1111\/j.1651-2227.2007.00085.x","article-title":"Mitochondrial tRNA genes and flanking regions in sudden infant death syndrome","volume":"96","author":"Opdal","year":"2007","journal-title":"Acta Paediatr."},{"issue":"9","key":"10.1016\/j.forsciint.2012.01.018_bib0080","doi-asserted-by":"crossref","first-page":"1160","DOI":"10.1093\/eurheartj\/ehn122","article-title":"Age- and gender-specific mortality rates in childhood hypertrophic cardiomyopathy","volume":"29","author":"Ostman-Smith","year":"2008","journal-title":"Eur. Heart J."},{"issue":"1","key":"10.1016\/j.forsciint.2012.01.018_bib0085","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1007\/s004140050271","article-title":"Harmonization of medico-legal autopsy rules. Committee of Ministers. Council of Europe","volume":"113","author":"Brinkmann","year":"1999","journal-title":"Int. J. Legal Med."},{"key":"10.1016\/j.forsciint.2012.01.018_bib0090","first-page":"203","article-title":"Instruction and reference manual for the International Standardise. Autopsy protocol for sudden unexpected infant death","volume":"1","author":"Krous","year":"1996","journal-title":"J. SIDS Infant Mortal."},{"key":"10.1016\/j.forsciint.2012.01.018_bib0095","doi-asserted-by":"crossref","first-page":"549","DOI":"10.1016\/j.fsigss.2007.10.047","article-title":"Large scale analysis of HCM mutations in sudden cardiac death","volume":"1","author":"Brion","year":"2008","journal-title":"Forensic Sci. Int. Genet. Suppl. Ser."},{"key":"10.1016\/j.forsciint.2012.01.018_bib0100","doi-asserted-by":"crossref","first-page":"67","DOI":"10.1186\/1471-2350-11-67","article-title":"Screening mutations in myosin binding protein C3 gene in a cohort of patients with hypertrophic cardiomyopathy","volume":"11","author":"Rodriguez-Garcia","year":"2010","journal-title":"BMC Med. Genet."},{"issue":"5","key":"10.1016\/j.forsciint.2012.01.018_bib0105","doi-asserted-by":"crossref","first-page":"316","DOI":"10.1016\/j.carpath.2009.06.003","article-title":"Inherited cardiomyopathies mimicking ARVC","volume":"19","author":"Roberts","year":"2009","journal-title":"Cardiovasc. Pathol."},{"issue":"7","key":"10.1016\/j.forsciint.2012.01.018_bib0110","doi-asserted-by":"crossref","first-page":"841","DOI":"10.1016\/S0022-2828(03)00146-9","article-title":"Identification of the genotypes causing hypertrophic cardiomyopathy in northern Sweden","volume":"35","author":"Morner","year":"2003","journal-title":"J. Mol. Cell Cardiol."},{"issue":"20","key":"10.1016\/j.forsciint.2012.01.018_bib0115","doi-asserted-by":"crossref","first-page":"1848","DOI":"10.1016\/S0195-668X(03)00466-4","article-title":"The 2373insG mutation in the MYBPC3 gene is a founder mutation, which accounts for nearly one-fourth of the HCM cases in the Netherlands","volume":"24","author":"Alders","year":"2003","journal-title":"Eur. Heart J."},{"issue":"9","key":"10.1016\/j.forsciint.2012.01.018_bib0120","doi-asserted-by":"crossref","first-page":"1903","DOI":"10.1016\/j.jacc.2004.07.045","article-title":"Myosin binding protein C mutations and compound heterozygosity in hypertrophic cardiomyopathy","volume":"44","author":"Van Driest","year":"2004","journal-title":"J. Am. Coll. Cardiol."},{"issue":"6","key":"10.1016\/j.forsciint.2012.01.018_bib0125","doi-asserted-by":"crossref","first-page":"630","DOI":"10.1016\/S0025-6196(11)60890-2","article-title":"Myofilament protein gene mutation screening and outcome of patients with hypertrophic cardiomyopathy","volume":"83","author":"Olivotto","year":"2008","journal-title":"Mayo Clin. Proc."},{"issue":"2","key":"10.1016\/j.forsciint.2012.01.018_bib0130","doi-asserted-by":"crossref","first-page":"155","DOI":"10.1161\/CIRCGENETICS.109.912345","article-title":"Coding sequence rare variants identified in MYBPC3, MYH6, TPM1, TNNC1 and TNNI3 from 312 patients with familial or idiopathic dilated cardiomyopathy","volume":"3","author":"Hershberger","year":"2010","journal-title":"Circ. Cardiovasc. Genet."},{"issue":"1","key":"10.1016\/j.forsciint.2012.01.018_bib0135","doi-asserted-by":"crossref","first-page":"78","DOI":"10.1016\/j.ymgme.2005.10.008","article-title":"Genotype-phenotype relationships involving hypertrophic cardiomyopathy-associated mutations in titin, muscle LIM protein, and telethonin","volume":"88","author":"Bos","year":"2006","journal-title":"Mol. Genet. Metab."},{"issue":"17","key":"10.1016\/j.forsciint.2012.01.018_bib0140","doi-asserted-by":"crossref","first-page":"2227","DOI":"10.1161\/01.CIR.0000066323.15244.54","article-title":"Hypertrophic cardiomyopathy: distribution of disease genes, spectrum of mutations, and implications for a molecular diagnosis strategy","volume":"107","author":"Richard","year":"2003","journal-title":"Circulation"},{"issue":"1","key":"10.1016\/j.forsciint.2012.01.018_bib0145","doi-asserted-by":"crossref","first-page":"54","DOI":"10.1161\/CIRCULATIONAHA.104.507699","article-title":"Alpha-myosin heavy chain: a sarcomeric gene associated with dilated and hypertrophic phenotypes of cardiomyopathy","volume":"112","author":"Carniel","year":"2005","journal-title":"Circulation"},{"issue":"12","key":"10.1016\/j.forsciint.2012.01.018_bib0150","doi-asserted-by":"crossref","first-page":"2315","DOI":"10.1016\/j.jacc.2004.05.088","article-title":"Frequency and clinical expression of cardiac troponin I mutations in 748 consecutive families with hypertrophic cardiomyopathy","volume":"44","author":"Mogensen","year":"2004","journal-title":"J. Am. Coll. Cardiol."},{"issue":"4","key":"10.1016\/j.forsciint.2012.01.018_bib0155","doi-asserted-by":"crossref","first-page":"445","DOI":"10.1161\/01.CIR.0000080896.52003.DF","article-title":"Prevalence and spectrum of thin filament mutations in an outpatient referral population with hypertrophic cardiomyopathy","volume":"108","author":"Van Driest","year":"2003","journal-title":"Circulation"}],"container-title":["Forensic Science International"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0379073812000217?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0379073812000217?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2018,11,25]],"date-time":"2018-11-25T18:56:15Z","timestamp":1543172175000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S0379073812000217"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2012,6]]},"references-count":31,"journal-issue":{"issue":"1-3","published-print":{"date-parts":[[2012,6]]}},"alternative-id":["S0379073812000217"],"URL":"https:\/\/doi.org\/10.1016\/j.forsciint.2012.01.018","relation":{},"ISSN":["0379-0738"],"issn-type":[{"value":"0379-0738","type":"print"}],"subject":[],"published":{"date-parts":[[2012,6]]}}}