{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2024,6,12]],"date-time":"2024-06-12T05:56:01Z","timestamp":1718171761765},"reference-count":10,"publisher":"Wiley","issue":"10","license":[{"start":{"date-parts":[[2005,11,22]],"date-time":"2005-11-22T00:00:00Z","timestamp":1132617600000},"content-version":"vor","delay-in-days":4070,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Prenatal Diagnosis"],"published-print":{"date-parts":[[1994,10]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>A polymorphic short tandem repeat (STR) in intron 3 (Goltsov <jats:italic>et al.<\/jats:italic>, 1993) and a variable number of tandem repeats (Hind III\u2010VNTR) flanked by two constant Hind III sites (Goltsov <jats:italic>et al.<\/jats:italic>, 1992) have been recently identified in the human phenylalanine hydroxylase (PAH) gene. These polymorphisms are easily detected by the polymerase chain reaction (PCR) and gel electrophoresis. We report on the use of these two novel polymorphisms in three Italian families with pregnancies at risk for classical phenylketonuria (PKU). A carrier status for PKU was ascertained in two fetuses; the third family refused prenatal diagnosis, although informativeness was shown to be complete.<\/jats:p>","DOI":"10.1002\/pd.1970141011","type":"journal-article","created":{"date-parts":[[2007,3,4]],"date-time":"2007-03-04T06:51:35Z","timestamp":1172991095000},"page":"959-962","source":"Crossref","is-referenced-by-count":6,"title":["Prenatal diagnosis by minisatellite analysis in italian families with phenylketonuria"],"prefix":"10.1002","volume":"14","author":[{"given":"Valentino","family":"Romano","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Irma","family":"Dianzani","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Alberto","family":"Ponzone","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Enrico","family":"Zammarchi","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Randi","family":"Eisensmith","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Nadia","family":"Ceratto","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Paolo","family":"Bosco","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Anna","family":"Indelicato","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2005,11,22]]},"reference":[{"key":"e_1_2_1_2_1","first-page":"631","article-title":"Screening for mutations in the phenylalanine hydroxylase gene from Italian patients with phenylketonuria by using the chemical cleavage method: a new splice mutation","volume":"48","author":"Dianzani I.","year":"1991","journal-title":"Am. J. Hum. Genet."},{"key":"e_1_2_1_3_1","first-page":"627","article-title":"Association between mutations and a VNTR in the human phenylalanine hydroxylase gene","volume":"51","author":"Goltsov A. A.","year":"1992","journal-title":"Am. J. Hum. Genet."},{"key":"e_1_2_1_4_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/2.5.577"},{"key":"e_1_2_1_5_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/2.10.1703"},{"key":"e_1_2_1_6_1","doi-asserted-by":"publisher","DOI":"10.1002\/pd.1970100503"},{"key":"e_1_2_1_7_1","first-page":"619","article-title":"Extensive restriction site polymorphism at the human phenylalanine hydroxylase locus and application in prenatal diagnosis of phenylketonuria","volume":"37","author":"Lidski A. S.","year":"1985","journal-title":"Am. J. Hum. Genet."},{"key":"e_1_2_1_8_1","doi-asserted-by":"publisher","DOI":"10.1056\/NEJM199105023241802"},{"key":"e_1_2_1_9_1","first-page":"158","article-title":"Prenatal diagnosis in primary hyperphenylalaninemia","volume":"6","author":"Ponzone A.","year":"1993","journal-title":"Dev. Brain Dysf."},{"key":"e_1_2_1_10_1","first-page":"83","article-title":"Geographical distribution of phenylalanine hydroxylase alleles in Sicily","volume":"6","author":"Romano V.","year":"1993","journal-title":"Dev. Brain Dysf."},{"key":"e_1_2_1_11_1","doi-asserted-by":"publisher","DOI":"10.1002\/pd.1970090607"}],"container-title":["Prenatal Diagnosis"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fpd.1970141011","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/obgyn.onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/pd.1970141011","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,25]],"date-time":"2023-10-25T12:17:03Z","timestamp":1698236223000},"score":1,"resource":{"primary":{"URL":"https:\/\/obgyn.onlinelibrary.wiley.com\/doi\/10.1002\/pd.1970141011"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1994,10]]},"references-count":10,"journal-issue":{"issue":"10","published-print":{"date-parts":[[1994,10]]}},"alternative-id":["10.1002\/pd.1970141011"],"URL":"https:\/\/doi.org\/10.1002\/pd.1970141011","archive":["Portico"],"relation":{},"ISSN":["0197-3851","1097-0223"],"issn-type":[{"value":"0197-3851","type":"print"},{"value":"1097-0223","type":"electronic"}],"subject":[],"published":{"date-parts":[[1994,10]]}}}