{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,4,25]],"date-time":"2026-04-25T05:13:45Z","timestamp":1777094025565,"version":"3.51.4"},"reference-count":13,"publisher":"Wiley","issue":"3","license":[{"start":{"date-parts":[[2019,7,4]],"date-time":"2019-07-04T00:00:00Z","timestamp":1562198400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/501100003593","name":"Conselho Nacional de Desenvolvimento Cient\u00edfico e Tecnol\u00f3gico","doi-asserted-by":"publisher","award":["301871\/2016\u20107"],"award-info":[{"award-number":["301871\/2016\u20107"]}],"id":[{"id":"10.13039\/501100003593","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100003593","name":"Conselho Nacional de Desenvolvimento Cient\u00edfico e Tecnol\u00f3gico","doi-asserted-by":"publisher","award":["303002\/2016\u20106"],"award-info":[{"award-number":["303002\/2016\u20106"]}],"id":[{"id":"10.13039\/501100003593","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100001807","name":"Funda\u00e7\u00e3o de Amparo \u00e0 Pesquisa do Estado de S\u00e3o Paulo","doi-asserted-by":"publisher","award":["2013\/03236\u20105"],"award-info":[{"award-number":["2013\/03236\u20105"]}],"id":[{"id":"10.13039\/501100001807","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100001807","name":"Funda\u00e7\u00e3o de Amparo \u00e0 Pesquisa do Estado de S\u00e3o Paulo","doi-asserted-by":"publisher","award":["2014\/50137\u20105"],"award-info":[{"award-number":["2014\/50137\u20105"]}],"id":[{"id":"10.13039\/501100001807","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100003593","name":"Conselho Nacional de Desenvolvimento Cient\u00edfico e Tecnol\u00f3gico","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100003593","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100001807","name":"Funda\u00e7\u00e3o de Amparo \u00e0 Pesquisa do Estado de S\u00e3o Paulo","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100001807","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Clinical Genetics"],"published-print":{"date-parts":[[2019,9]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:p>\n                    Short stature homeobox (\n                    <jats:italic>SHOX<\/jats:italic>\n                    ) haploinsufficiency is a frequent cause of short stature. Despite advances in sequencing technologies, the identification of\n                    <jats:italic>SHOX<\/jats:italic>\n                    mutations continues to be performed using standard methods, including multiplex ligation\u2010dependent probe amplification (MLPA) followed by Sanger sequencing. We designed a targeted panel of genes associated with growth impairment, including\n                    <jats:italic>SHOX<\/jats:italic>\n                    genomic and enhancer regions, to improve the resolution of next\u2010generation sequencing for\n                    <jats:italic>SHOX<\/jats:italic>\n                    analysis. We used two software packages, CONTRA and Nexus Copy Number, in addition to visual analysis to investigate the presence of copy number variants (CNVs). We evaluated 15 patients with previously known\n                    <jats:italic>SHOX<\/jats:italic>\n                    defects, including point mutations, deletions and a duplication, and 77 patients with idiopathic short stature (ISS). The panel was able to confirm all known defects in the validation analysis. During the prospective evaluation, we identified two new partial\n                    <jats:italic>SHOX<\/jats:italic>\n                    deletions (one detected only by visual analysis), including an intragenic deletion not detected by MLPA. Additionally, we were able to determine the breakpoints in four cases. Our results show that the designed panel can be used for the molecular investigation of patients with ISS, and it may even detect CNVs in\n                    <jats:italic>SHOX<\/jats:italic>\n                    and its enhancers, which may be present in a significant fraction of patients.\n                  <\/jats:p>","DOI":"10.1111\/cge.13587","type":"journal-article","created":{"date-parts":[[2019,6,20]],"date-time":"2019-06-20T10:00:01Z","timestamp":1561024801000},"page":"261-265","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":9,"title":["Evaluation of\n                    <i>SHOX<\/i>\n                    defects in the era of next\u2010generation sequencing"],"prefix":"10.1111","volume":"96","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-4316-4999","authenticated-orcid":false,"given":"Mariana F.A.","family":"Funari","sequence":"first","affiliation":[{"name":"Unidade de Endocrinologia do Desenvolvimento Laborat\u00f3rio de Horm\u00f4nios e Gen\u00e9tica Molecular\/LIM42, Hospital das Cl\u00ednicas, Faculdade de Medicina Universidade de S\u00e3o Paulo  S\u00e3o Paulo Brazil"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Juliana S.","family":"de Barros","sequence":"additional","affiliation":[{"name":"Departamento de Gen\u00e9tica e Biologia Evolutiva, Instituto de Bioci\u00eancias Universidade de S\u00e3o Paulo  S\u00e3o Paulo Brazil"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Lucas S.","family":"Santana","sequence":"additional","affiliation":[{"name":"Unidade de Endocrinologia Gen\u00e9tica\/LIM25, Faculdade de Medicina Universidade de S\u00e3o Paulo  S\u00e3o Paulo Brazil"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Antonio M.","family":"Lerario","sequence":"additional","affiliation":[{"name":"Unidade de Endocrinologia do Desenvolvimento Laborat\u00f3rio de Horm\u00f4nios e Gen\u00e9tica Molecular\/LIM42, Hospital das Cl\u00ednicas, Faculdade de Medicina Universidade de S\u00e3o Paulo  S\u00e3o Paulo Brazil"},{"name":"Unidade de Endocrinologia Gen\u00e9tica\/LIM25, Faculdade de Medicina Universidade de S\u00e3o Paulo  S\u00e3o Paulo Brazil"},{"name":"Department of Internal Medicine, Division of Metabolism, Endocrinology and Diabetes University of Michigan  Ann Arbor Michigan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Bruna L.","family":"Freire","sequence":"additional","affiliation":[{"name":"Unidade de Endocrinologia do Desenvolvimento Laborat\u00f3rio de Horm\u00f4nios e Gen\u00e9tica Molecular\/LIM42, Hospital das Cl\u00ednicas, Faculdade de Medicina Universidade de S\u00e3o Paulo  S\u00e3o Paulo Brazil"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Thais K.","family":"Homma","sequence":"additional","affiliation":[{"name":"Unidade de Endocrinologia do Desenvolvimento Laborat\u00f3rio de Horm\u00f4nios e Gen\u00e9tica Molecular\/LIM42, Hospital das Cl\u00ednicas, Faculdade de Medicina Universidade de S\u00e3o Paulo  S\u00e3o Paulo Brazil"},{"name":"Unidade de Endocrinologia Gen\u00e9tica\/LIM25, Faculdade de Medicina Universidade de S\u00e3o Paulo  S\u00e3o Paulo Brazil"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Gabriela A.","family":"Vasques","sequence":"additional","affiliation":[{"name":"Unidade de Endocrinologia do Desenvolvimento Laborat\u00f3rio de Horm\u00f4nios e Gen\u00e9tica Molecular\/LIM42, Hospital das Cl\u00ednicas, Faculdade de Medicina Universidade de S\u00e3o Paulo  S\u00e3o Paulo Brazil"},{"name":"Unidade de Endocrinologia Gen\u00e9tica\/LIM25, Faculdade de Medicina Universidade de S\u00e3o Paulo  S\u00e3o Paulo Brazil"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Berenice B.","family":"Mendonca","sequence":"additional","affiliation":[{"name":"Unidade de Endocrinologia do Desenvolvimento Laborat\u00f3rio de Horm\u00f4nios e Gen\u00e9tica Molecular\/LIM42, Hospital das Cl\u00ednicas, Faculdade de Medicina Universidade de S\u00e3o Paulo  S\u00e3o Paulo Brazil"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Mirian Y.","family":"Nishi","sequence":"additional","affiliation":[{"name":"Unidade de Endocrinologia do Desenvolvimento Laborat\u00f3rio de Horm\u00f4nios e Gen\u00e9tica Molecular\/LIM42, Hospital das Cl\u00ednicas, Faculdade de Medicina Universidade de S\u00e3o Paulo  S\u00e3o Paulo Brazil"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-2567-7360","authenticated-orcid":false,"given":"Alexander A.L.","family":"Jorge","sequence":"additional","affiliation":[{"name":"Unidade de Endocrinologia do Desenvolvimento Laborat\u00f3rio de Horm\u00f4nios e Gen\u00e9tica Molecular\/LIM42, Hospital das Cl\u00ednicas, Faculdade de Medicina Universidade de S\u00e3o Paulo  S\u00e3o Paulo Brazil"},{"name":"Unidade de Endocrinologia Gen\u00e9tica\/LIM25, Faculdade de Medicina Universidade de S\u00e3o 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