{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,23]],"date-time":"2026-10-23T19:03:27Z","timestamp":1792782207411,"version":"4.5.0"},"reference-count":28,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2015,9,3]],"date-time":"2015-09-03T00:00:00Z","timestamp":1441238400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"name":"European Commission's FP7","award":["223692"],"award-info":[{"award-number":["223692"]}],"id":[{"id":"https:\/\/ror.org\/00k4n6c32","id-type":"ROR","asserted-by":"crossref"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2016,1]]},"abstract":"<jats:sec>\n                    <jats:label\/>\n                    <jats:p>\n                      Temple syndrome (TS) is caused by abnormal expression of genes at the imprinted locus 14q32. A subset of TS patients carry 14q32 deletions of paternal origin. We aimed to define possible genotype\u2010phenotype correlations and to highlight the prevalence of thyroid dysfunction, which is a previously unreported feature of TS. We described four new patients who carry deletions of paternal origin at 14q32 detected by array\u2010CGH and reviewed nine patients reported in the medical literature. We compared clinical features with respect to deletion size and position. Expression of\n                      <jats:italic>DLK1<\/jats:italic>\n                      is altered in all the patients with TS, but intellectual disability (ID) is present only in patients with larger deletions extending proximally to the imprinted locus. This study led to the identification of an ID \u201ccritical region\u201d containing four annotated genes including\n                      <jats:italic>YY1<\/jats:italic>\n                      as the strongest candidate. Furthermore, we described three patients with thyroid dysfunction, which progressed to papillary carcinoma at a very young age in two of them. We conclude that\n                      <jats:italic>DLK1<\/jats:italic>\n                      loss of function is likely to be responsible for the core features of TS, while haploinsufficiency of a gene outside the imprinted region causes ID. Thyroid cancer may be an unrecognized feature and monitoring for thyroid dysfunction should thus be considered in TS patients. \u00a9 2015 Wiley Periodicals, Inc.\n                    <\/jats:p>\n                  <\/jats:sec>","DOI":"10.1002\/ajmg.a.37346","type":"journal-article","created":{"date-parts":[[2015,9,3]],"date-time":"2015-09-03T02:39:55Z","timestamp":1441247995000},"page":"162-169","source":"Crossref","is-referenced-by-count":20,"title":["New patients with Temple syndrome caused by 14q32 deletion: Genotype\u2010phenotype correlations and risk of thyroid cancer"],"prefix":"10.1002","volume":"170","author":[{"given":"Giulia","family":"Severi","sequence":"first","affiliation":[{"name":"Medical Genetics Unit, Policlinico S. Orsola\u2010Malpighi University of Bologna Bologna Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Laura","family":"Bernardini","sequence":"additional","affiliation":[{"name":"IRCCS\u2010Casa Sollievo della Sofferenza Mendel Institute Rome Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Silvana","family":"Briuglia","sequence":"additional","affiliation":[{"name":"Department of Pediatrics University of Messina Messina Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Stefania","family":"Bigoni","sequence":"additional","affiliation":[{"name":"Medical Genetics Unit Ferrara University Hospital Ferrara Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Barbara","family":"Buldrini","sequence":"additional","affiliation":[{"name":"Medical Genetics Unit Ferrara University Hospital Ferrara Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Pamela","family":"Magini","sequence":"additional","affiliation":[{"name":"Medical Genetics Unit, Policlinico S. Orsola\u2010Malpighi University of Bologna Bologna Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Maria L.","family":"Dentici","sequence":"additional","affiliation":[{"name":"Medical Genetics Unit, Bambino Ges\u00f9 Children's Hospital IRCCS Rome Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Duccio M.","family":"Cordelli","sequence":"additional","affiliation":[{"name":"Child Neurology Unit University of Bologna Bologna Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Teresa","family":"Arrigo","sequence":"additional","affiliation":[{"name":"Department of Pediatrics University of Messina Messina Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Emilio","family":"Franzoni","sequence":"additional","affiliation":[{"name":"Child Neurology Unit University of Bologna Bologna Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sergio","family":"Fini","sequence":"additional","affiliation":[{"name":"Medical Genetics Unit Ferrara University Hospital Ferrara Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Eleonora","family":"Italyankina","sequence":"additional","affiliation":[{"name":"Medical Genetics Unit Ferrara University Hospital Ferrara Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Italia","family":"Loddo","sequence":"additional","affiliation":[{"name":"Department of Pediatrics University of Messina Messina Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Antonio","family":"Novelli","sequence":"additional","affiliation":[{"name":"Medical Genetics Unit, Bambino Ges\u00f9 Children's Hospital IRCCS Rome Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Claudio","family":"Graziano","sequence":"additional","affiliation":[{"name":"Medical Genetics Unit, Policlinico S. Orsola\u2010Malpighi University of Bologna Bologna Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2015,9,3]]},"reference":[{"key":"e_1_2_6_2_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/ddq075"},{"key":"e_1_2_6_3_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00018-012-1080-8"},{"key":"e_1_2_6_4_1","first-page":"1","article-title":"Novel deletions affecting the MEG3\u2010DMR provide further evidence for a hierarchical regulation of imprinting in 14q32","volume":"23","author":"Beygo J","year":"2014","journal-title":"Eur J Hum Genet"},{"key":"e_1_2_6_5_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.cell.2014.09.050"},{"key":"e_1_2_6_6_1","doi-asserted-by":"publisher","DOI":"10.1002\/gcc.20601"},{"key":"e_1_2_6_7_1","doi-asserted-by":"publisher","DOI":"10.1002\/bdra.23321"},{"key":"e_1_2_6_8_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/ddq214"},{"key":"e_1_2_6_9_1","doi-asserted-by":"publisher","DOI":"10.1210\/en.2002-220800"},{"key":"e_1_2_6_10_1","doi-asserted-by":"publisher","DOI":"10.1172\/JCI26240"},{"key":"e_1_2_6_11_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmedgenet-2014-102396"},{"key":"e_1_2_6_12_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/ddv083"},{"key":"e_1_2_6_13_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng.2007.56"},{"key":"e_1_2_6_14_1","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pgen.1000992"},{"key":"e_1_2_6_15_1","doi-asserted-by":"publisher","DOI":"10.1038\/ejhg.2015.13"},{"key":"e_1_2_6_16_1","doi-asserted-by":"publisher","DOI":"10.1210\/me.2014-1210"},{"key":"e_1_2_6_17_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.31414"},{"key":"e_1_2_6_18_1","doi-asserted-by":"publisher","DOI":"10.1128\/MCB.22.15.5585-5592.2002"},{"key":"e_1_2_6_19_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.36866"},{"key":"e_1_2_6_20_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.36185"},{"key":"e_1_2_6_21_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng.2007.51"},{"key":"e_1_2_6_22_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.28.8.511"},{"key":"e_1_2_6_23_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0378-1119(99)00261-9"},{"key":"e_1_2_6_24_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00335-009-9205-6"},{"key":"e_1_2_6_25_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0960-9822(02)00951-X"},{"key":"e_1_2_6_26_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng.712"},{"key":"e_1_2_6_27_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.mce.2013.07.030"},{"key":"e_1_2_6_28_1","doi-asserted-by":"crossref","unstructured":"ZadaA MundhofirFE PfundtR LeijstenN NillesenW FaradzSM de LeeuwN.2014.A rare recurrent de novo 14q32.2q32.31 microdeletion of 1.1\u2009Mb in a 20\u2010year\u2010old female patient with a maternal UPD(14)\u2010like phenotype and intellectual disability. 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