{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2023,10,30]],"date-time":"2023-10-30T14:15:46Z","timestamp":1698675346570},"reference-count":12,"publisher":"Wiley","issue":"6","license":[{"start":{"date-parts":[[2011,12,14]],"date-time":"2011-12-14T00:00:00Z","timestamp":1323820800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["The Journal of Dermatology"],"published-print":{"date-parts":[[2012,6]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>We performed a prenatal diagnosis for 10 fetuses from nine unrelated Japanese xeroderma pigmentosum complementation group A (XP\u2010A) families. All parents had at least one XP\u2010A child (proband) with a homozygous founder mutation (IVS3\u20101G&gt;C) in the <jats:italic>XPA<\/jats:italic> gene. A genetic analysis was performed by a restriction enzyme; <jats:italic>AlwNI<\/jats:italic> fragment length polymorphism of polymerase chain reaction (PCR)\u2010amplified DNA, mostly from amniotic fluid (AF) and cultured cells established from AF. However, for the first family, we tried amniocentesis as well as chorionic villus sampling (CVS). Among the 10 cases, we confirmed the results of PCR\u2010based genetic diagnosis by post\u2010ultraviolet survival of amniotic cells in eight cases. Unfortunately, 6\u2003weeks after CVS and 4\u2003days after the amniocentesis in the first case we examined, the fetus died <jats:italic>in utero<\/jats:italic>, the reason for which remains unexplained. We prenatally determined two XP\u2010A cases, six XP\u2010A carriers and two wild\u2010type fetuses, which appears to be consistent with Mendel\u2019s law.<\/jats:p>","DOI":"10.1111\/j.1346-8138.2011.01425.x","type":"journal-article","created":{"date-parts":[[2011,12,15]],"date-time":"2011-12-15T02:41:29Z","timestamp":1323916889000},"page":"516-519","source":"Crossref","is-referenced-by-count":10,"title":["Prenatal diagnosis of xeroderma pigmentosum group A in Japan"],"prefix":"10.1111","volume":"39","author":[{"given":"Shinichi","family":"MORIWAKI","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yoshiki","family":"YAMASHITA","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Sachiko","family":"NAKAMURA","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Daisuke","family":"FUJITA","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jun","family":"KOHYAMA","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Masahiro","family":"TAKIGAWA","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Masahide","family":"OHMICHI","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2011,12,14]]},"reference":[{"key":"e_1_2_5_2_2","doi-asserted-by":"publisher","DOI":"10.1001\/archderm.1987.01660260111026"},{"key":"e_1_2_5_3_2","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.2010.083022"},{"key":"e_1_2_5_4_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.neuroscience.2006.12.020"},{"key":"e_1_2_5_5_2","doi-asserted-by":"publisher","DOI":"10.1007\/978-3-540-78814-0_52"},{"key":"e_1_2_5_6_2","doi-asserted-by":"publisher","DOI":"10.1038\/348073a0"},{"key":"e_1_2_5_7_2","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.87.24.9908"},{"key":"e_1_2_5_8_2","doi-asserted-by":"publisher","DOI":"10.1001\/archderm.1994.01690020057009"},{"key":"e_1_2_5_9_2","doi-asserted-by":"publisher","DOI":"10.1034\/j.1600-0781.2001.017002047.x"},{"key":"e_1_2_5_10_2","first-page":"1","article-title":"Ten years of clinical and laboratory work on xeroderma pigmentosum","volume":"56","author":"Moriwaki S","year":"2010","journal-title":"Bulletin of the Osaka Medical College"},{"key":"e_1_2_5_11_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.mrfmmm.2006.06.010"},{"key":"e_1_2_5_12_2","doi-asserted-by":"publisher","DOI":"10.1038\/jid.2010.137"},{"key":"e_1_2_5_13_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.jdermsci.2005.01.009"}],"container-title":["The Journal of Dermatology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1111%2Fj.1346-8138.2011.01425.x","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/j.1346-8138.2011.01425.x","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,30]],"date-time":"2023-10-30T13:55:58Z","timestamp":1698674158000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1111\/j.1346-8138.2011.01425.x"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2011,12,14]]},"references-count":12,"journal-issue":{"issue":"6","published-print":{"date-parts":[[2012,6]]}},"alternative-id":["10.1111\/j.1346-8138.2011.01425.x"],"URL":"https:\/\/doi.org\/10.1111\/j.1346-8138.2011.01425.x","archive":["Portico"],"relation":{},"ISSN":["0385-2407","1346-8138"],"issn-type":[{"value":"0385-2407","type":"print"},{"value":"1346-8138","type":"electronic"}],"subject":[],"published":{"date-parts":[[2011,12,14]]}}}