{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2023,9,14]],"date-time":"2023-09-14T05:04:05Z","timestamp":1694667845969},"reference-count":23,"publisher":"Wiley","issue":"19","license":[{"start":{"date-parts":[[2006,5,22]],"date-time":"2006-05-22T00:00:00Z","timestamp":1148256000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2006,10]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>This study evaluated audiological and electrophysiological profiles in 13 patients with holoprosencephaly. All patients had imaging evaluation by magnetic resonance imaging and molecular screening for the genes <jats:italic>SHH<\/jats:italic>, <jats:italic>GLI2<\/jats:italic>, and <jats:italic>SIX3<\/jats:italic>. Each patient underwent clinical (otological and vestibular antecedents, otoscopy) and instrumental (tympanometry, auditory brainstem response\u2014ABR) evaluation to compare hearing and the electrophysiological profile possibly occurring in patients with these mutations. To our knowledge there are no systematic studies correlating molecular\/imaging and evoked potentials in patients with HPE. Here, we discuss the audiological and electrophysiological profiles of patients and the possible role of the genes studied on the overall findings. \u00a9 2006 Wiley\u2010Liss, Inc.<\/jats:p>","DOI":"10.1002\/ajmg.a.31296","type":"journal-article","created":{"date-parts":[[2006,5,22]],"date-time":"2006-05-22T17:58:52Z","timestamp":1148320732000},"page":"2142-2145","source":"Crossref","is-referenced-by-count":5,"title":["Holoprosencephaly: Clinical evaluation on audiological and brainstem electrophysiological profiles"],"prefix":"10.1002","volume":"140A","author":[{"given":"Melissa Z.","family":"Antoneli","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Sthella","family":"Zanchetta","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Neivo L.","family":"Zorzetto","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Lucilene A.","family":"Ribeiro","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Antonio","family":"Richieri\u2010Costa","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2006,5,22]]},"reference":[{"key":"e_1_2_6_2_1","doi-asserted-by":"publisher","DOI":"10.1126\/science.1058624"},{"key":"e_1_2_6_3_1","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1096-8628(19990625)89:2<116::AID-AJMG10>3.0.CO;2-4"},{"key":"e_1_2_6_4_1","doi-asserted-by":"publisher","DOI":"10.1002\/tera.1420400304"},{"key":"e_1_2_6_5_1","doi-asserted-by":"publisher","DOI":"10.1242\/dev.01438"},{"key":"e_1_2_6_6_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0387-7604(12)80209-9"},{"key":"e_1_2_6_7_1","doi-asserted-by":"publisher","DOI":"10.1038\/nature02292"},{"key":"e_1_2_6_8_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0012-1606(03)00316-6"},{"key":"e_1_2_6_9_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0925-4773(00)00572-4"},{"key":"e_1_2_6_10_1","doi-asserted-by":"publisher","DOI":"10.1002\/dvdy.10409"},{"key":"e_1_2_6_11_1","doi-asserted-by":"publisher","DOI":"10.1242\/dev.125.15.2973"},{"key":"e_1_2_6_12_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0887-8994(02)00401-0"},{"key":"e_1_2_6_13_1","doi-asserted-by":"publisher","DOI":"10.1006\/dbio.2002.0733"},{"key":"e_1_2_6_14_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0166-2236(00)01982-2"},{"key":"e_1_2_6_15_1","doi-asserted-by":"publisher","DOI":"10.1242\/dev.01567"},{"key":"e_1_2_6_16_1","unstructured":"RibeiroLA El\u2010JaickK MuenkeM Richieri\u2010CostaA.2004.SHH SIX3 and TGIF in holoprosencephaly\u2010mutations phenotype and image. 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