{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2024,2,12]],"date-time":"2024-02-12T00:11:39Z","timestamp":1707696699047},"reference-count":10,"publisher":"Wiley","issue":"3","license":[{"start":{"date-parts":[[2005,12,5]],"date-time":"2005-12-05T00:00:00Z","timestamp":1133740800000},"content-version":"vor","delay-in-days":4297,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Prenatal Diagnosis"],"published-print":{"date-parts":[[1994,3]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>We present a case of prenatal diagnosis of Werdnig\u2010Hoffmann disease, the most severe type of spinal muscular atrophy (SMA). DNA obtained from a mummified umbilical cord of a deceased affected brother of the index case was analysed with four closely linked microsatellite markers [EF1\/2a and EF13\/14 (D5S125), MAP1B, and JK53CA (D5S112)], flanking the<jats:italic>SMA<\/jats:italic>gene, on chromosome 5q11\u00b72\u201013\u00b73. The fetus was diagnosed as homozygous for the deleterious<jats:italic>SMA<\/jats:italic>gene.<\/jats:p>","DOI":"10.1002\/pd.1970140314","type":"journal-article","created":{"date-parts":[[2007,3,4]],"date-time":"2007-03-04T09:35:34Z","timestamp":1173000934000},"page":"219-222","source":"Crossref","is-referenced-by-count":4,"title":["Prenatal diagnosis of werdnig\u2010hoffmann disease: DNA analysis of a mummified umbilical cord using closely linked microsatellite markers"],"prefix":"10.1002","volume":"14","author":[{"given":"T.","family":"Matilla","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"J.","family":"Corral","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"M.","family":"Miranda","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"J.","family":"Troyano","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"K.","family":"Morrison","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"V.","family":"Volpini","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"X.","family":"Estivill","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2005,12,5]]},"reference":[{"key":"e_1_2_1_2_1","doi-asserted-by":"publisher","DOI":"10.1038\/344540a0"},{"key":"e_1_2_1_3_1","doi-asserted-by":"publisher","DOI":"10.1038\/345823a0"},{"key":"e_1_2_1_4_1","doi-asserted-by":"crossref","first-page":"29","DOI":"10.1093\/oso\/9780199631964.003.0003","volume-title":"PCR: A Practical Approach","author":"Jackson D. P.","year":"1991"},{"key":"e_1_2_1_5_1","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.88.17.7873"},{"key":"e_1_2_1_6_1","doi-asserted-by":"publisher","DOI":"10.1038\/344767a0"},{"key":"e_1_2_1_7_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.29.3.171"},{"key":"e_1_2_1_8_1","first-page":"520","article-title":"High\u2010resolution genetic map around the spinal muscular atrophy (SMA) locus on chromosome 5","volume":"50","author":"Morrison K. E.","year":"1992","journal-title":"Am. J. Hum. Genet."},{"key":"e_1_2_1_9_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF00219680"},{"key":"e_1_2_1_10_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.10.3.260"},{"key":"e_1_2_1_11_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0140-6736(81)90583-3"}],"container-title":["Prenatal Diagnosis"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fpd.1970140314","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/obgyn.onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/pd.1970140314","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2024,2,11]],"date-time":"2024-02-11T11:40:57Z","timestamp":1707651657000},"score":1,"resource":{"primary":{"URL":"https:\/\/obgyn.onlinelibrary.wiley.com\/doi\/10.1002\/pd.1970140314"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1994,3]]},"references-count":10,"journal-issue":{"issue":"3","published-print":{"date-parts":[[1994,3]]}},"alternative-id":["10.1002\/pd.1970140314"],"URL":"https:\/\/doi.org\/10.1002\/pd.1970140314","archive":["Portico"],"relation":{},"ISSN":["0197-3851","1097-0223"],"issn-type":[{"value":"0197-3851","type":"print"},{"value":"1097-0223","type":"electronic"}],"subject":[],"published":{"date-parts":[[1994,3]]}}}