{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,12,16]],"date-time":"2025-12-16T11:44:52Z","timestamp":1765885492544},"reference-count":14,"publisher":"Springer Science and Business Media LLC","issue":"4","license":[{"start":{"date-parts":[[1996,4,1]],"date-time":"1996-04-01T00:00:00Z","timestamp":828316800000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/www.springer.com\/tdm"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Nat Genet"],"published-print":{"date-parts":[[1996,4]]},"DOI":"10.1038\/ng0496-359","type":"journal-article","created":{"date-parts":[[2004,8,18]],"date-time":"2004-08-18T20:06:55Z","timestamp":1092859615000},"page":"359-360","source":"Crossref","is-referenced-by-count":78,"title":["XNP mutation in a large family with Juberg-Marsidi syndrome"],"prefix":"10.1038","volume":"12","author":[{"given":"Laurent","family":"Villard","sequence":"first","affiliation":[]},{"given":"Josef","family":"Gecz","sequence":"additional","affiliation":[]},{"given":"Jean Fran\u00e7ois","family":"Matt\u00e9i","sequence":"additional","affiliation":[]},{"given":"Michel","family":"Font\u00e9s","sequence":"additional","affiliation":[]},{"given":"Pascale","family":"Saugier-Veber","sequence":"additional","affiliation":[]},{"given":"Arnold","family":"Munnich","sequence":"additional","affiliation":[]},{"given":"Stanislas","family":"Lyonnet","sequence":"additional","affiliation":[]}],"member":"297","reference":[{"key":"BFng0496359_CR1","first-page":"1136","volume":"51","author":"RJ Gibbons","year":"1992","unstructured":"Gibbons, R.J., Suthers, G.K., Wilkie, A.O.M., Buckle, V.J. & Higgs, D.R. Am. J. Hum. Genet. 51, 1136\u20131149 (1992).","journal-title":"Am. J. Hum. Genet."},{"key":"BFng0496359_CR2","first-page":"714","volume":"32","author":"RC Juberg","year":"1980","unstructured":"Juberg, R.C. & Marsidi, I. Am. J. Hum. Genet. 32, 714\u2013722 (1980).","journal-title":"Am. J. Hum. Genet."},{"key":"BFng0496359_CR3","doi-asserted-by":"publisher","first-page":"70","DOI":"10.1111\/j.1399-0004.1983.tb00439.x","volume":"23","author":"JF Mattei","year":"1983","unstructured":"Mattei, J.F., Collignon, P., Ayme, S. & Giraud, F. Clin. Genet. 23, 70\u201374 (1983).","journal-title":"Clin. Genet."},{"key":"BFng0496359_CR4","first-page":"1040","volume":"52","author":"P Saugier-Veber","year":"1993","unstructured":"Saugier-Veber, P. et al. Am. J. Hum. Genet. 52, 1040\u20131045 (1993).","journal-title":"Am. J. Hum. Genet."},{"key":"BFng0496359_CR5","doi-asserted-by":"publisher","first-page":"300","DOI":"10.1002\/ajmg.1320550310","volume":"55","author":"P Saugier-Veber","year":"1995","unstructured":"Saugier-Veber, P. et al. Am. J. Med. Genet. 55, 300\u2013301 (1995).","journal-title":"Am. J. Med. Genet."},{"key":"BFng0496359_CR6","doi-asserted-by":"publisher","first-page":"39","DOI":"10.1093\/hmg\/3.1.39","volume":"3","author":"J Gecz","year":"1994","unstructured":"Gecz, J. et al. Hum. Mol. Genet. 3, 39\u201344 (1994).","journal-title":"Hum. Mol. Genet."},{"key":"BFng0496359_CR7","doi-asserted-by":"publisher","first-page":"837","DOI":"10.1016\/0092-8674(95)90287-2","volume":"80","author":"RJ Gibbons","year":"1995","unstructured":"Gibbons, R.J., Picketts, D.J., Villard, L. & Higgs, D.R. Cell 80, 837\u2013845 (1995).","journal-title":"Cell"},{"key":"BFng0496359_CR8","doi-asserted-by":"publisher","first-page":"1957","DOI":"10.1093\/hmg\/3.11.1957","volume":"3","author":"CL Stayton","year":"1994","unstructured":"Stayton, C.L. et al. Hum. Mol. Genet. 3, 1957\u20131964 (1994).","journal-title":"Hum. Mol. Genet."},{"key":"BFng0496359_CR9","doi-asserted-by":"publisher","first-page":"211","DOI":"10.1016\/0168-9525(93)90121-W","volume":"9","author":"JHJ Hoeijmakers","year":"1993","unstructured":"Hoeijmakers, J.H.J. Trends Genet. 9, 211\u2013217 (1993).","journal-title":"Trends Genet."},{"key":"BFng0496359_CR10","doi-asserted-by":"publisher","first-page":"583","DOI":"10.1101\/gad.7.4.583","volume":"7","author":"BC Laurent","year":"1993","unstructured":"Laurent, B.C., Treich, I. & Carlson, M. Genes Dev. 7, 583\u2013589 (1993).","journal-title":"Genes Dev."},{"key":"BFng0496359_CR11","volume-title":"Biological psychiatry.","author":"CE Schwartz","year":"1991","unstructured":"Schwartz, C.E., Lubs, H.A., Arena, J.F. & Stevenson, R.E. in Biological psychiatry. Vol 2. (ed. Racagni, G.) (Elsevier Science, New York, 1991)."},{"key":"BFng0496359_CR12","doi-asserted-by":"publisher","first-page":"357","DOI":"10.1038\/ng0394-257","volume":"6","author":"P Saugier-Veber","year":"1994","unstructured":"Saugier-Veber, P. et al. Nature Genet. 6, 357\u2013362 (1994).","journal-title":"Nature Genet."},{"key":"BFng0496359_CR13","doi-asserted-by":"publisher","first-page":"402","DOI":"10.1038\/ng0794-402","volume":"7","author":"M Jouet","year":"1994","unstructured":"Jouet, M. et al. Nature Genet. 7, 402\u2013407 (1994).","journal-title":"Nature Genet."},{"key":"BFng0496359_CR14","doi-asserted-by":"publisher","first-page":"156","DOI":"10.1016\/0003-2697(87)90021-2","volume":"162","author":"P Chomczynski","year":"1987","unstructured":"Chomczynski, P. & Sacchi, N. Anal. Biochem. 162, 156\u2013159 (1987).","journal-title":"Anal. Biochem."}],"container-title":["Nature Genetics"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/www.nature.com\/articles\/ng0496-359","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/www.nature.com\/articles\/ng0496-359.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/www.nature.com\/articles\/ng0496-359.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,5,18]],"date-time":"2023-05-18T20:32:05Z","timestamp":1684441925000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.nature.com\/articles\/ng0496-359"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1996,4]]},"references-count":14,"journal-issue":{"issue":"4","published-print":{"date-parts":[[1996,4]]}},"alternative-id":["BFng0496359"],"URL":"https:\/\/doi.org\/10.1038\/ng0496-359","relation":{},"ISSN":["1061-4036","1546-1718"],"issn-type":[{"value":"1061-4036","type":"print"},{"value":"1546-1718","type":"electronic"}],"subject":[],"published":{"date-parts":[[1996,4]]}}}