{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,4,22]],"date-time":"2026-04-22T14:46:53Z","timestamp":1776869213701,"version":"3.51.2"},"reference-count":23,"publisher":"Elsevier BV","issue":"4","license":[{"start":{"date-parts":[[2012,10,1]],"date-time":"2012-10-01T00:00:00Z","timestamp":1349049600000},"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":["Reproductive BioMedicine Online"],"published-print":{"date-parts":[[2012,10]]},"DOI":"10.1016\/j.rbmo.2012.07.003","type":"journal-article","created":{"date-parts":[[2012,7,20]],"date-time":"2012-07-20T10:18:20Z","timestamp":1342779500000},"page":"390-395","source":"Crossref","is-referenced-by-count":13,"title":["PGD for germline mosaicism"],"prefix":"10.1016","volume":"25","author":[{"given":"Gheona","family":"Altarescu","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Rachel","family":"Beeri","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Talia","family":"Eldar-Geva","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Irit","family":"Varshaver","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ehud J.","family":"Margalioth","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ephrat","family":"Levy-Lahad","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Paul","family":"Renbaum","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"78","reference":[{"key":"10.1016\/j.rbmo.2012.07.003_b0005","doi-asserted-by":"crossref","first-page":"2047","DOI":"10.1093\/humrep\/del064","article-title":"Single-sperm analysis for haplotype construction of de-novo paternal mutations: application to PGD for neurofibromatosis type 1","volume":"21","author":"Altarescu","year":"2006","journal-title":"Hum. Reprod."},{"key":"10.1016\/j.rbmo.2012.07.003_b0010","doi-asserted-by":"crossref","first-page":"929","DOI":"10.1002\/pd.2070","article-title":"PGD on a recombinant allele: crossover between the TSC2 gene and \u2018linked\u2019 markers impairs accurate diagnosis","volume":"28","author":"Altarescu","year":"2008","journal-title":"Prenat. Diagn."},{"key":"10.1016\/j.rbmo.2012.07.003_b0020","doi-asserted-by":"crossref","first-page":"276","DOI":"10.1016\/S1472-6483(10)60586-X","article-title":"Successful polar body-based preimplantation genetic diagnosis for achondroplasia","volume":"16","author":"Altarescu","year":"2008","journal-title":"Reprod. Biomed. Online"},{"key":"10.1016\/j.rbmo.2012.07.003_b0015","doi-asserted-by":"crossref","first-page":"3225","DOI":"10.1093\/humrep\/dep293","article-title":"Real-time reverse linkage using polar body analysis for preimplantation genetic diagnosis in female carriers of de novo mutations","volume":"24","author":"Altarescu","year":"2009","journal-title":"Hum. Reprod."},{"key":"10.1016\/j.rbmo.2012.07.003_b0025","doi-asserted-by":"crossref","first-page":"553","DOI":"10.1136\/jmg.26.9.553","article-title":"Germinal mosaicism increases the recurrence risk for \u2018new\u2019 Duchenne muscular dystrophy mutations","volume":"26","author":"Bakker","year":"1989","journal-title":"J. Med. Genet."},{"key":"10.1016\/j.rbmo.2012.07.003_b0030","doi-asserted-by":"crossref","first-page":"19","DOI":"10.1111\/j.1469-8749.2011.03968.x","article-title":"Overall management of patients with Dravet syndrome","volume":"53","author":"Ceulemans","year":"2011","journal-title":"Dev. Med. Child. Neurol."},{"key":"10.1016\/j.rbmo.2012.07.003_b0035","doi-asserted-by":"crossref","first-page":"7","DOI":"10.1111\/j.1469-8749.2011.03965.x","article-title":"Molecular genetics of Dravet syndrome","volume":"53","author":"De Jonghe","year":"2011","journal-title":"Dev. Med. Child. Neurol."},{"key":"10.1016\/j.rbmo.2012.07.003_b0040","doi-asserted-by":"crossref","first-page":"683","DOI":"10.1136\/jmg.27.11.683","article-title":"Theoretical considerations on germline mosaicism in Duchenne muscular dystrophy","volume":"27","author":"Grimm","year":"1990","journal-title":"J. Med. Genet."},{"key":"10.1016\/j.rbmo.2012.07.003_b0045","doi-asserted-by":"crossref","first-page":"11","DOI":"10.1111\/j.1469-8749.2011.03966.x","article-title":"Dravet syndrome and SCN1A gene mutation related-epilepsies: cognitive impairment and its determinants","volume":"53","author":"Guerrini","year":"2011","journal-title":"Dev. Med. Child. Neurol."},{"key":"10.1016\/j.rbmo.2012.07.003_b0050","doi-asserted-by":"crossref","first-page":"84","DOI":"10.1007\/978-1-4419-6448-9_8","article-title":"Tuberous sclerosis complex and DNA repair","volume":"685","author":"Habib","year":"2010","journal-title":"Adv. Exp. Med. Biol."},{"key":"10.1016\/j.rbmo.2012.07.003_b0055","doi-asserted-by":"crossref","first-page":"768","DOI":"10.1038\/344768a0","article-title":"Pregnancies from biopsied human preimplantation embryos sexed by Y-specific DNA amplification","volume":"344","author":"Handyside","year":"1990","journal-title":"Nature"},{"key":"10.1016\/j.rbmo.2012.07.003_b0060","doi-asserted-by":"crossref","first-page":"51","DOI":"10.1093\/nar\/gkg129","article-title":"The UCSC genome browser database","volume":"31","author":"Karolchik","year":"2003","journal-title":"Nucleic Acids Res."},{"key":"10.1016\/j.rbmo.2012.07.003_b0065","doi-asserted-by":"crossref","first-page":"350","DOI":"10.1016\/j.rbmo.2011.01.005","article-title":"First systematic experience of preimplantation genetic diagnosis for de-novo mutations","volume":"22","author":"Rechitsky","year":"2011","journal-title":"Reprod. Biomed. Online"},{"key":"10.1016\/j.rbmo.2012.07.003_b0070","doi-asserted-by":"crossref","first-page":"317","DOI":"10.1002\/pd.1668","article-title":"Advantages of multiple markers and polar body analysis in preimplantation genetic diagnosis for Alagille disease","volume":"27","author":"Renbaum","year":"2007","journal-title":"Prenat. Diagn."},{"key":"10.1016\/j.rbmo.2012.07.003_b0075","doi-asserted-by":"crossref","first-page":"1099","DOI":"10.1160\/TH05-05-0360","article-title":"Multiplex fluorescent analysis of four short tandem repeats for rapid haemophilia A molecular diagnosis","volume":"94","author":"Sanchez-Garcia","year":"2005","journal-title":"Thromb. Haemost."},{"key":"10.1016\/j.rbmo.2012.07.003_b0080","doi-asserted-by":"crossref","first-page":"490","DOI":"10.1002\/pd.109","article-title":"A comparison of different lysis buffers to assess allele dropout from single cells for preimplantation genetic diagnosis","volume":"21","author":"Thornhill","year":"2001","journal-title":"Prenat. Diagn."},{"key":"10.1016\/j.rbmo.2012.07.003_b0085","doi-asserted-by":"crossref","first-page":"466","DOI":"10.1042\/BST0390466","article-title":"The tuberous sclerosis complex: balancing proliferation and survival","volume":"39","author":"Tomasoni","year":"2011","journal-title":"Biochem. Soc. Trans."},{"key":"10.1016\/j.rbmo.2012.07.003_b0115","doi-asserted-by":"crossref","first-page":"510","DOI":"10.1038\/ejhg.2011.241","article-title":"Genotype and cognitive phenotype of patients with tuberous sclerosis complex","volume":"5","author":"van Eeghen","year":"2012","journal-title":"Eur J Hum Genet."},{"key":"10.1016\/j.rbmo.2012.07.003_b0105","doi-asserted-by":"crossref","first-page":"38","DOI":"10.1016\/S1472-6483(10)61913-X","article-title":"Polar body-based preimplantation diagnosis for X-linked disorders","volume":"4","author":"Verlinsky","year":"2002","journal-title":"Reprod. Biomed. Online"},{"key":"10.1016\/j.rbmo.2012.07.003_b0095","doi-asserted-by":"crossref","first-page":"302","DOI":"10.1016\/j.fertnstert.2004.02.108","article-title":"Over a decade of experience with preimplantation genetic diagnosis","volume":"82","author":"Verlinsky","year":"2004","journal-title":"Fertil. Steril."},{"key":"10.1016\/j.rbmo.2012.07.003_b0100","doi-asserted-by":"crossref","first-page":"2079","DOI":"10.1001\/jama.291.17.2079","article-title":"Preimplantation HLA testing","volume":"291","author":"Verlinsky","year":"2004","journal-title":"JAMA"},{"key":"10.1016\/j.rbmo.2012.07.003_b0120","series-title":"An Atlas of Preimplantation Genetic Diagnosis","first-page":"15","article-title":"Micromanipulation and biopsy of polar bodies and blastomeres","author":"Verlinsky","year":"2005"},{"key":"10.1016\/j.rbmo.2012.07.003_b0110","doi-asserted-by":"crossref","first-page":"381","DOI":"10.1007\/s004390050708","article-title":"Germ line mosaicism","volume":"102","author":"Zlotogora","year":"1998","journal-title":"Hum. Genet."}],"container-title":["Reproductive BioMedicine Online"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S1472648312004166?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S1472648312004166?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2019,7,1]],"date-time":"2019-07-01T09:48:04Z","timestamp":1561974484000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S1472648312004166"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2012,10]]},"references-count":23,"journal-issue":{"issue":"4","published-print":{"date-parts":[[2012,10]]}},"alternative-id":["S1472648312004166"],"URL":"https:\/\/doi.org\/10.1016\/j.rbmo.2012.07.003","relation":{},"ISSN":["1472-6483"],"issn-type":[{"value":"1472-6483","type":"print"}],"subject":[],"published":{"date-parts":[[2012,10]]}}}