{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,7]],"date-time":"2026-10-07T06:12:22Z","timestamp":1791353542777,"version":"4.3.1"},"reference-count":14,"publisher":"Japan Endocrine Society","issue":"8","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Endocr J"],"published-print":{"date-parts":[[2013]]},"DOI":"10.1507\/endocrj.ej13-0023","type":"journal-article","created":{"date-parts":[[2013,5,8]],"date-time":"2013-05-08T22:45:01Z","timestamp":1368053101000},"page":"1013-1020","source":"Crossref","is-referenced-by-count":17,"title":["Submicroscopic deletion involving the &lt;i&gt;fibroblast growth factor receptor 1&lt;\/i&gt; gene in a patient with combined pituitary hormone deficiency"],"prefix":"10.1507","volume":"60","author":[{"given":"Maki","family":"Fukami","sequence":"first","affiliation":[{"name":"Department of Molecular Endocrinology, National Research Institute for Child Health and Development, Tokyo 157-8535, Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Manami","family":"Iso","sequence":"additional","affiliation":[{"name":"Department of Molecular Endocrinology, National Research Institute for Child Health and Development, Tokyo 157-8535, Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Naoko","family":"Sato","sequence":"additional","affiliation":[{"name":"Department of Molecular Endocrinology, National Research Institute for Child Health and Development, Tokyo 157-8535, Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Maki","family":"Igarashi","sequence":"additional","affiliation":[{"name":"Department of Molecular Endocrinology, National Research Institute for Child Health and Development, Tokyo 157-8535, Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Misuzu","family":"Seo","sequence":"additional","affiliation":[{"name":"Department of Molecular Bioscience, Faculty of Life Sciences, Kyoto Sangyo University, Kyoto 603-8555, Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Itsuro","family":"Kazukawa","sequence":"additional","affiliation":[{"name":"Department of Endocrinology, Chiba Children\u2019s Hospital, Chiba 266-0007, Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Eiichi","family":"Kinoshita","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Nagasaki University Graduate School of Biomedical Sciences, Nagasaki 852-8501, Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sumito","family":"Dateki","sequence":"additional","affiliation":[{"name":"Department of Molecular Endocrinology, National Research Institute for Child Health and Development, Tokyo 157-8535, Japan"},{"name":"Department of Pediatrics, Nagasaki University Graduate School of Biomedical Sciences, Nagasaki 852-8501, Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tsutomu","family":"Ogata","sequence":"additional","affiliation":[{"name":"Department of Molecular Endocrinology, National Research Institute for Child Health and Development, Tokyo 157-8535, Japan"},{"name":"Department of Pediatrics, Hamamatsu University School of Medicine, Hamamatsu 431-3192, Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"386","reference":[{"key":"1","doi-asserted-by":"crossref","unstructured":"1. Miraoui H, Dwyer A, Pitteloud N (2011) Role of fibroblast growth factor (FGF) signaling in the neuroendocrine control of human reproduction. <i>Mol Cell Endocrinol <\/i>346: 37-43.","DOI":"10.1016\/j.mce.2011.05.042"},{"key":"2","doi-asserted-by":"crossref","unstructured":"2. Mohammadi M, Olsen SK, Ibrahimi OA (2005) Structural basis for fibroblast growth factor receptor activation. <i>Cytokine Growth Factor Rev<\/i> 16: 107-137.","DOI":"10.1016\/j.cytogfr.2005.01.008"},{"key":"3","doi-asserted-by":"crossref","unstructured":"3. Villanueva C, de Roux N (2010) FGFR1 mutations in Kallmann syndrome. <i>Front Horm Res<\/i> 39: 51-61.","DOI":"10.1159\/000312693"},{"key":"4","doi-asserted-by":"crossref","unstructured":"4. Falardeau J, Chung WC, Beenken A, Raivio T, Plummer L, et al. (2008) Decreased FGF8 signaling causes deficiency of gonadotropin-releasing hormone in humans and mice. <i>J Clin Invest<\/i> 118: 2822-2831.","DOI":"10.1172\/JCI34538"},{"key":"5","doi-asserted-by":"crossref","unstructured":"5. Sykiotis GP, Plummer L, Hughes VA, Au M, Durrani S, et al. (2010) Oligogenic basis of isolated gonadotropin-releasing hormone deficiency. <i>Proc Natl Acad Sci USA<\/i> 107: 15140-15144.","DOI":"10.1073\/pnas.1009622107"},{"key":"6","doi-asserted-by":"crossref","unstructured":"6. McCabe MJ, Gaston-Massuet C, Tziaferi V, Gregory LC, Alatzoglou KS, et al. (2011) Novel FGF8 mutations associated with recessive holoprosencephaly, craniofacial defects, and hypothalamo-pituitary dysfunction. <i>J Clin Endocrinol Metab<\/i> 96: E1709-1718.","DOI":"10.1210\/jc.2011-0454"},{"key":"7","doi-asserted-by":"crossref","unstructured":"7. Raivio T, Avbelj M, McCabe MJ, Romero CJ, Dwyer AA, et al (2012) Genetic Overlap in Kallmann Syndrome, Combined Pituitary Hormone Deficiency, and Septo-Optic Dysplasia. <i>J Clin Endocrinol Metab<\/i> 97: E694-699.","DOI":"10.1210\/jc.2011-2938"},{"key":"8","doi-asserted-by":"crossref","unstructured":"8. Vermeulen S, Messiaen L, Scheir P, De Bie S, Speleman F, et al. (2002) Kallmann syndrome in a patient with congenital spherocytosis and an interstitial 8p11.2 deletion. <i>Am<\/i> <i>J Med Genet<\/i> 108: 315-318.","DOI":"10.1002\/ajmg.10295"},{"key":"9","doi-asserted-by":"crossref","unstructured":"9. Norlin S, Nordstr&ouml;m U, Edlund T (2000) Fibroblast growth factor signaling is required for the proliferation and patterning of progenitor cells in the developing anterior pituitary. <i>Mech Dev <\/i>96: 175-182.","DOI":"10.1016\/S0925-4773(00)00393-2"},{"key":"10","doi-asserted-by":"crossref","unstructured":"10. Ericson J, Norlin S, Jessell TM, Edlund T (1998) Integrated FGF and BMP signaling controls the progression of progenitor cell differentiation and the emergence of pattern in the embryonic anterior pituitary. <i>Development <\/i>125: 1005-1015.","DOI":"10.1242\/dev.125.6.1005"},{"key":"11","doi-asserted-by":"crossref","unstructured":"11. Raivio T, Sidis Y, Plummer L, Chen H, Ma J, et al. (2009) Impaired fibroblast growth factor receptor 1 signaling as a cause of normosmic idiopathic hypogonadotropic hypogonadism. <i>J Clin Endocrinol Metab<\/i> 94: 4380-4390.","DOI":"10.1210\/jc.2009-0179"},{"key":"12","unstructured":"12. Newberry EP, Boudreaux JM, Towler DA (1996) The rat osteocalcin fibroblast growth factor (FGF)-responsive element: an okadaic acid-sensitive, FGF-selective transcriptional response motif. <i>Mol Endocrinol <\/i>10: 1029-1040."},{"key":"13","doi-asserted-by":"crossref","unstructured":"13. Tsukahara M, Murano I, Aoki Y, Kajii T, Furukawa S (1995) Interstitial deletion of 8p: report of two patients and review of the literature. <i>Clin Genet<\/i> 48: 41-45.","DOI":"10.1111\/j.1399-0004.1995.tb04052.x"},{"key":"14","doi-asserted-by":"crossref","unstructured":"14. Salvatore D, Davies TF, Schlumberger M-J, Hay ID, Larsen PR (2011) Thyroid physiology and diagnostic evaluation of patients with thyroid disorders. In: Melmed S, Polonsky KS, Larson PR, Kronenberg HM (ed) Williams Textbook of Endocrinology (12th). Saunders, Philadelphia: 327-361.","DOI":"10.1016\/B978-1-4377-0324-5.00011-0"}],"container-title":["Endocrine Journal"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.jstage.jst.go.jp\/article\/endocrj\/60\/8\/60_EJ13-0023\/_pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2022,2,16]],"date-time":"2022-02-16T14:39:28Z","timestamp":1645022368000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.jstage.jst.go.jp\/article\/endocrj\/60\/8\/60_EJ13-0023\/_article"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2013]]},"references-count":14,"journal-issue":{"issue":"8","published-print":{"date-parts":[[2013]]}},"URL":"https:\/\/doi.org\/10.1507\/endocrj.ej13-0023","relation":{},"ISSN":["0918-8959","1348-4540"],"issn-type":[{"value":"0918-8959","type":"print"},{"value":"1348-4540","type":"electronic"}],"subject":[],"published":{"date-parts":[[2013]]}}}