{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,12,19]],"date-time":"2025-12-19T21:36:42Z","timestamp":1766180202566},"reference-count":25,"publisher":"Springer Science and Business Media LLC","issue":"3","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Pediatr Res"],"published-print":{"date-parts":[[2009,3]]},"DOI":"10.1203\/pdr.0b013e3181973b4e","type":"journal-article","created":{"date-parts":[[2009,2,18]],"date-time":"2009-02-18T13:06:24Z","timestamp":1234962384000},"page":"347-351","source":"Crossref","is-referenced-by-count":20,"title":["Lyonization Effects of the t(X;16) Translocation on the Phenotypic Expression in a Rare Female With Menkes Disease"],"prefix":"10.1038","volume":"65","author":[{"given":"Pietro","family":"Sirleto","sequence":"first","affiliation":[]},{"given":"Cecilia","family":"Surace","sequence":"additional","affiliation":[]},{"given":"Helena","family":"Santos","sequence":"additional","affiliation":[]},{"given":"Enrico","family":"Bertini","sequence":"additional","affiliation":[]},{"given":"Anna C","family":"Tomaiuolo","sequence":"additional","affiliation":[]},{"given":"Antonietta","family":"Lombardo","sequence":"additional","affiliation":[]},{"given":"Sara","family":"Boenzi","sequence":"additional","affiliation":[]},{"given":"Elsa","family":"Bevivino","sequence":"additional","affiliation":[]},{"given":"Carlo","family":"Dionisi-Vici","sequence":"additional","affiliation":[]},{"given":"Adriano","family":"Angioni","sequence":"additional","affiliation":[]}],"member":"297","reference":[{"key":"pr200966-bib1","first-page":"764","volume":"29","author":"Menkes JH","year":"1962","journal-title":"Pediatrics"},{"key":"pr200966-bib2","first-page":"408","volume":"86","author":"T&oslash;nnesen T","year":"1991","journal-title":"Hum Genet"},{"key":"pr200966-bib3","doi-asserted-by":"crossref","first-page":"191","DOI":"10.1002\/(SICI)1096-8628(19980923)79:3<191::AID-AJMG7>3.0.CO;2-Q","volume":"79","author":"Sugio Y","year":"1998","journal-title":"Am J Med Genet"},{"key":"pr200966-bib4","doi-asserted-by":"crossref","first-page":"1029S","DOI":"10.1093\/ajcn\/67.5.1029S","volume":"67","author":"Kaler SG","year":"1998","journal-title":"Am J Clin Nutr"},{"key":"pr200966-bib5","doi-asserted-by":"crossref","first-page":"291","DOI":"10.1146\/annurev.nutr.20.1.291","volume":"20","author":"Harris ED","year":"2000","journal-title":"Annu Rev Nutr"},{"key":"pr200966-bib6","unstructured":""},{"key":"pr200966-bib7","doi-asserted-by":"crossref","first-page":"64","DOI":"10.1126\/science.2294592","volume":"247","author":"Lichter P","year":"1990","journal-title":"Science"},{"key":"pr200966-bib8","doi-asserted-by":"crossref","first-page":"7","DOI":"10.1007\/BF00295658","volume":"71","author":"Tsukahara M","year":"1985","journal-title":"Hum Genet"},{"key":"pr200966-bib9","doi-asserted-by":"crossref","first-page":"161","DOI":"10.1002\/ajmg.1320420205","volume":"42","author":"Schmidt M","year":"1992","journal-title":"Am J Med Genet"},{"key":"pr200966-bib10","doi-asserted-by":"crossref","first-page":"230","DOI":"10.1016\/0168-9525(94)90169-4","volume":"10","author":"Migeon BR","year":"1994","journal-title":"Trends Genet"},{"key":"pr200966-bib11","doi-asserted-by":"crossref","first-page":"349","DOI":"10.1023\/A:1005675012708","volume":"23","author":"Rizzo C","year":"2000","journal-title":"J Inherit Metab Dis"},{"key":"pr200966-bib12","doi-asserted-by":"crossref","first-page":"386","DOI":"10.1007\/BF01802032","volume":"12","author":"Kodama H","year":"1989","journal-title":"J Inherit Metab Dis"},{"key":"pr200966-bib13","doi-asserted-by":"crossref","first-page":"354","DOI":"10.1002\/(SICI)1096-8628(19991203)87:4<354::AID-AJMG14>3.0.CO;2-Y","volume":"87","author":"Abusaad I","year":"1999","journal-title":"Am J Med Genet"},{"key":"pr200966-bib14","doi-asserted-by":"crossref","first-page":"503","DOI":"10.1002\/ajmg.1320260230","volume":"26","author":"Kapur S","year":"1987","journal-title":"Am J Med Genet"},{"key":"pr200966-bib15","doi-asserted-by":"crossref","first-page":"295","DOI":"10.1111\/j.1399-0004.1994.tb04163.x","volume":"46","author":"Beck J","year":"1994","journal-title":"Clin Genet"},{"key":"pr200966-bib16","doi-asserted-by":"crossref","first-page":"452","DOI":"10.1111\/j.1399-0004.1990.tb03612.x","volume":"38","author":"Gerdes AM","year":"1990","journal-title":"Clin Genet"},{"key":"pr200966-bib17","doi-asserted-by":"crossref","first-page":"217","DOI":"10.1136\/jmg.28.4.217","volume":"28","author":"Chandley AC","year":"1991","journal-title":"J Med Genet"},{"key":"pr200966-bib18","unstructured":""},{"key":"pr200966-bib19","doi-asserted-by":"crossref","first-page":"2181","DOI":"10.1126\/science.1071907","volume":"296","author":"Hunt PA","year":"2002","journal-title":"Science"},{"key":"pr200966-bib20","doi-asserted-by":"crossref","first-page":"444","DOI":"10.1007\/s00439-006-0157-6","volume":"119","author":"Thomas NS","year":"2006","journal-title":"Hum Genet"},{"key":"pr200966-bib21","doi-asserted-by":"crossref","first-page":"750","DOI":"10.1136\/jmg.2007.052787","volume":"44","author":"De Gregori M","year":"2007","journal-title":"J Med Genet"},{"key":"pr200966-bib22","doi-asserted-by":"crossref","first-page":"524","DOI":"10.1086\/507652","volume":"79","author":"Ashley T","year":"2006","journal-title":"Am J Hum Genet"},{"key":"pr200966-bib23","doi-asserted-by":"crossref","first-page":"8","DOI":"10.1136\/jmg.2004.024141","volume":"42","author":"Gribble SM","year":"2005","journal-title":"J Med Genet"},{"key":"pr200966-bib24","doi-asserted-by":"crossref","first-page":"571","DOI":"10.1007\/s00439-005-1324-x","volume":"117","author":"Ciccone R","year":"2005","journal-title":"Hum Genet"},{"key":"pr200966-bib25","doi-asserted-by":"crossref","first-page":"1331","DOI":"10.1086\/375166","volume":"72","author":"Miyake N","year":"2003","journal-title":"Am J Hum Genet"}],"container-title":["Pediatric Research"],"original-title":[],"deposited":{"date-parts":[[2023,5,24]],"date-time":"2023-05-24T02:52:52Z","timestamp":1684896772000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.nature.com\/doifinder\/10.1203\/PDR.0b013e3181973b4e"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2009,3]]},"references-count":25,"journal-issue":{"issue":"3","published-print":{"date-parts":[[2009,3]]}},"alternative-id":["pr200966"],"URL":"https:\/\/doi.org\/10.1203\/pdr.0b013e3181973b4e","relation":{},"ISSN":["0031-3998","1530-0447"],"issn-type":[{"value":"0031-3998","type":"print"},{"value":"1530-0447","type":"electronic"}],"subject":[],"published":{"date-parts":[[2009,3]]}}}