{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2023,5,20]],"date-time":"2023-05-20T04:14:47Z","timestamp":1684556087208},"reference-count":29,"publisher":"Springer Science and Business Media LLC","issue":"11","license":[{"start":{"date-parts":[[2010,9,14]],"date-time":"2010-09-14T00:00:00Z","timestamp":1284422400000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/www.springer.com\/tdm"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Nat Rev Endocrinol"],"published-print":{"date-parts":[[2010,11]]},"DOI":"10.1038\/nrendo.2010.153","type":"journal-article","created":{"date-parts":[[2010,9,15]],"date-time":"2010-09-15T11:18:56Z","timestamp":1284549536000},"page":"646-650","source":"Crossref","is-referenced-by-count":4,"title":["Focal congenital hyperinsulinism in a patient with septo-optic dysplasia"],"prefix":"10.1038","volume":"6","author":[{"given":"Raja","family":"Padidela","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ritika R.","family":"Kapoor","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yuva","family":"Moyo","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Clare","family":"Gilbert","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Sarah E.","family":"Flanagan","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Sian","family":"Ellard","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Khalid","family":"Hussain","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"297","published-online":{"date-parts":[[2010,9,14]]},"reference":[{"key":"BFnrendo2010153_CR1","doi-asserted-by":"publisher","first-page":"375","DOI":"10.1086\/519174","volume":"81","author":"S Ellard","year":"2007","unstructured":"Ellard, S.  et al. Permanent neonatal diabetes caused by dominant, recessive, or compound heterozygous SUR1 mutations with opposite functional effects. Am. J. Hum. Genet. 81, 375\u2013382 (2007).","journal-title":"Am. J. Hum. Genet."},{"key":"BFnrendo2010153_CR2","doi-asserted-by":"publisher","first-page":"1190","DOI":"10.1007\/s00125-006-0246-z","volume":"49","author":"SE Flanagan","year":"2006","unstructured":"Flanagan, S. E., Edghill, E. L., Gloyn, A. L., Ellard, S. & Hattersley, A. T. Mutations in KCNJ11, which encodes Kir6.2, are a common cause of diabetes diagnosed in the first 6 months of life, with the phenotype determined by genotype. Diabetologia 49, 1190\u20131197 (2006).","journal-title":"Diabetologia"},{"key":"BFnrendo2010153_CR3","doi-asserted-by":"publisher","first-page":"936","DOI":"10.1148\/radiol.2413032060","volume":"241","author":"LF Cervantes","year":"2006","unstructured":"Cervantes, L. F., Altman, N. R. & Medina, L. S. Case 102: Pituitary aplasia. Radiology 241, 936\u2013938 (2006).","journal-title":"Radiology"},{"key":"BFnrendo2010153_CR4","doi-asserted-by":"publisher","first-page":"326","DOI":"10.12968\/hmed.2006.67.6.21296","volume":"67","author":"SC Yong","year":"2006","unstructured":"Yong, S. C., Boo, N. Y. & Wu, L. L. Persistent neonatal hypoglycemia as a result of hypoplastic pituitary gland. Br. J. Hosp. Med. (Lond.) 67, 326 (2006).","journal-title":"Br. J. Hosp. Med. (Lond.)"},{"key":"BFnrendo2010153_CR5","doi-asserted-by":"publisher","first-page":"10","DOI":"10.1159\/000077661","volume":"62","author":"S Scommegna","year":"2004","unstructured":"Scommegna, S.  et al. Neonatal identification of pituitary aplasia: a life-saving diagnosis. Review of five cases. Horm. Res. 62, 10\u201316 (2004).","journal-title":"Horm. Res."},{"key":"BFnrendo2010153_CR6","doi-asserted-by":"publisher","first-page":"606","DOI":"10.1007\/s00108-008-2277-7","volume":"50","author":"M Bala","year":"2009","unstructured":"Bala, M., Br\u00fcnnler, T., Guralnik, V., Sch\u00f6lmerich, J. & Sch\u00e4ffler, A. A 36-year old female patient presenting with hypoglycemic coma [German]. Internist (Berl.) 50, 606\u2013611 (2009).","journal-title":"Internist (Berl.)"},{"key":"BFnrendo2010153_CR7","doi-asserted-by":"publisher","first-page":"4342","DOI":"10.1210\/jc.2003-030135","volume":"88","author":"K Hussain","year":"2003","unstructured":"Hussain, K., Hindmarsh, P. & Aynsley-Green, A. Neonates with symptomatic hyperinsulinemic hypoglycemia generate inappropriately low serum cortisol counterregulatory hormonal responses. J. Clin. Endocrinol. Metab. 88, 4342\u20134347 (2003).","journal-title":"J. Clin. Endocrinol. Metab."},{"key":"BFnrendo2010153_CR8","doi-asserted-by":"publisher","first-page":"e522","DOI":"10.1542\/peds.2008-0806","volume":"122","author":"A Kelly","year":"2008","unstructured":"Kelly, A., Tang, R., Becker, S. & Stanley, C. A. Poor specificity of low growth hormone and cortisol levels during fasting hypoglycemia for the diagnoses of growth hormone deficiency and adrenal insufficiency. Pediatrics 122, e522\u2013e528 (2008).","journal-title":"Pediatrics"},{"key":"BFnrendo2010153_CR9","doi-asserted-by":"publisher","first-page":"101","DOI":"10.1038\/ncpendmet1046","volume":"5","author":"RR Kapoor","year":"2009","unstructured":"Kapoor, R. R., James, C. & Hussain, K. Advances in the diagnosis and management of hyperinsulinemic hypoglycemia. Nat. Clin. Pract. Endocrinol. Metab. 5, 101\u2013112 (2009).","journal-title":"Nat. Clin. Pract. Endocrinol. Metab."},{"key":"BFnrendo2010153_CR10","doi-asserted-by":"publisher","first-page":"1809","DOI":"10.1093\/hmg\/5.11.1809","volume":"5","author":"P Thomas","year":"1996","unstructured":"Thomas, P., Ye, Y. & Lightner, E. Mutation of the pancreatic islet inward rectifier Kir6.2 also leads to familial persistent hyperinsulinemic hypoglycemia of infancy. Hum. Mol. Genet. 5, 1809\u20131812 (1996).","journal-title":"Hum. Mol. Genet."},{"key":"BFnrendo2010153_CR11","doi-asserted-by":"publisher","first-page":"426","DOI":"10.1126\/science.7716548","volume":"268","author":"PM Thomas","year":"1995","unstructured":"Thomas, P. M.  et al. Mutations in the sulfonylurea receptor gene in familial persistent hyperinsulinemic hypoglycemia of infancy. Science 268, 426\u2013429 (1995).","journal-title":"Science"},{"key":"BFnrendo2010153_CR12","doi-asserted-by":"publisher","first-page":"F108","DOI":"10.1136\/fn.82.2.F108","volume":"82","author":"J Rahier","year":"2000","unstructured":"Rahier, J., Guiot, Y. & Sempoux, C. Persistent hyperinsulinaemic hypoglycaemia of infancy: a heterogeneous syndrome unrelated to nesidioblastosis. Arch. Dis. Child. Fetal Neonatal Ed. 82, F108\u2013F112 (2000).","journal-title":"Arch. Dis. Child. Fetal Neonatal Ed."},{"key":"BFnrendo2010153_CR13","first-page":"485","volume":"59","author":"JC Fournet","year":"1998","unstructured":"Fournet, J. C.  et al. Loss of imprinted genes and paternal SUR1 mutations lead to hyperinsulinism in focal adenomatous hyperplasia. Ann. Endocrinol. (Paris) 59, 485\u2013491 (1998).","journal-title":"Ann. Endocrinol. (Paris)"},{"key":"BFnrendo2010153_CR14","doi-asserted-by":"publisher","first-page":"1286","DOI":"10.1172\/JCI4495","volume":"102","author":"V Verkarre","year":"1998","unstructured":"Verkarre, V.  et al. Paternal mutation of the sulfonylurea receptor (SUR1) gene and maternal loss of 11p15 imprinted genes lead to persistent hyperinsulinism in focal adenomatous hyperplasia. J. Clin. Invest. 102, 1286\u20131291 (1998).","journal-title":"J. Clin. Invest."},{"key":"BFnrendo2010153_CR15","doi-asserted-by":"publisher","first-page":"802","DOI":"10.1172\/JCI119594","volume":"100","author":"LP deLonlay","year":"1997","unstructured":"deLonlay, L. P.  et al. Somatic deletion of the imprinted 11p15 region in sporadic persistent hyperinsulinemic hypoglycemia of infancy is specific of focal adenomatous hyperplasia and endorses partial pancreatectomy. J. Clin. Invest. 100, 802\u2013807 (1997).","journal-title":"J. Clin. Invest."},{"key":"BFnrendo2010153_CR16","doi-asserted-by":"publisher","first-page":"98","DOI":"10.1038\/ng0593-98","volume":"4","author":"N Giannoukakis","year":"1993","unstructured":"Giannoukakis, N., Deal, C., Paquette, J., Goodyer, C. G. & Polychronakos, C. Parental genomic imprinting of the human IGF2 gene. Nat. Genet. 4, 98\u2013101 (1993).","journal-title":"Nat. Genet."},{"key":"BFnrendo2010153_CR17","doi-asserted-by":"publisher","first-page":"181","DOI":"10.1038\/ng0297-181","volume":"15","author":"MP Lee","year":"1997","unstructured":"Lee, M. P., Hu, R. J., Johnson, L. A. & Feinberg, A. P. Human KVLQT1 gene shows tissue-specific imprinting and encompasses Beckwith\u2013Wiedemann syndrome chromosomal rearrangements. Nat. Genet. 15, 181\u2013185 (1997).","journal-title":"Nat. Genet."},{"key":"BFnrendo2010153_CR18","doi-asserted-by":"publisher","first-page":"650","DOI":"10.1101\/gad.9.6.650","volume":"9","author":"S Matsuoka","year":"1995","unstructured":"Matsuoka, S.  et al. p57KIP2, a structurally distinct member of the p21CIP1 Cdk inhibitor family, is a candidate tumor suppressor gene. Genes Dev. 9, 650\u2013662 (1995).","journal-title":"Genes Dev."},{"key":"BFnrendo2010153_CR19","doi-asserted-by":"publisher","first-page":"40","DOI":"10.1038\/ng0492-40","volume":"1","author":"Y Zhang","year":"1992","unstructured":"Zhang, Y. & Tycko, B. Monoallelic expression of the human H19 gene. Nat. Genet. 1, 40\u201344 (1992).","journal-title":"Nat. Genet."},{"key":"BFnrendo2010153_CR20","doi-asserted-by":"publisher","first-page":"4941","DOI":"10.1210\/jc.2008-0673","volume":"93","author":"L Damaj","year":"2008","unstructured":"Damaj, L.  et al. Chromosome 11p15 paternal isodisomy in focal forms of neonatal hyperinsulinism. J. Clin. Endocrinol. Metab. 93, 4941\u20134947 (2008).","journal-title":"J. Clin. Endocrinol. Metab."},{"key":"BFnrendo2010153_CR21","doi-asserted-by":"publisher","first-page":"85","DOI":"10.1016\/j.jpeds.2005.07.031","volume":"148","author":"L Patel","year":"2006","unstructured":"Patel, L., McNally, R. J., Harrison, E., Lloyd, I. C. & Clayton, P. E. Geographical distribution of optic nerve hypoplasia and septo-optic dysplasia in Northwest England. J. Pediatr. 148, 85\u201388 (2006).","journal-title":"J. Pediatr."},{"key":"BFnrendo2010153_CR22","doi-asserted-by":"publisher","first-page":"191","DOI":"10.1016\/j.beem.2007.07.007","volume":"22","author":"A Mehta","year":"2008","unstructured":"Mehta, A. & Dattani, M. T. Developmental disorders of the hypothalamus and pituitary gland associated with congenital hypopituitarism. Best Pract. Res. Clin. Endocrinol. Metab. 22, 191\u2013206 (2008).","journal-title":"Best Pract. Res. Clin. Endocrinol. Metab."},{"key":"BFnrendo2010153_CR23","doi-asserted-by":"crossref","unstructured":"McCulloch, D. L., Garcia-Filion, P., Fink, C., Chaplin, C. A. & Borchert, M. S. Clinical electrophysiology and visual outcome in optic nerve hypoplasia (ONH). Br. J. Ophthalmol. doi:10.1136\/bjo.2009.161117.","DOI":"10.1136\/bjo.2009.161117"},{"key":"BFnrendo2010153_CR24","doi-asserted-by":"publisher","first-page":"82","DOI":"10.1002\/ajmg.a.30309","volume":"131","author":"IM Harrison","year":"2004","unstructured":"Harrison, I. M., Brosnahan, D., Phelan, E., Fitzgerald, R. J. & Reardon, W. Septo-optic dysplasia with digital anomalies\u2014a recurrent pattern syndrome. Am. J. Med. Genet. A 131, 82\u201385 (2004).","journal-title":"Am. J. Med. Genet. A"},{"key":"BFnrendo2010153_CR25","doi-asserted-by":"publisher","first-page":"2138","DOI":"10.1002\/ajmg.a.32430","volume":"146","author":"L Travan","year":"2008","unstructured":"Travan, L., Oretti, C., Zennaro, F. & Demarini, S. Marshall-Smith syndrome and septo-optic dysplasia: an unreported association. Am. J. Med. Genet. A 146, 2138\u20132140 (2008).","journal-title":"Am. J. Med. Genet. A"},{"key":"BFnrendo2010153_CR26","doi-asserted-by":"publisher","first-page":"625","DOI":"10.1007\/s004010050571","volume":"92","author":"M Hayashi","year":"1996","unstructured":"Hayashi, M.  et al. Septo-optic dysplasia with cerebellar hypoplasia in Cornelia de Lange syndrome. Acta Neuropathol. 92, 625\u2013630 (1996).","journal-title":"Acta Neuropathol."},{"key":"BFnrendo2010153_CR27","doi-asserted-by":"publisher","first-page":"691","DOI":"10.1210\/jc.2006-1609","volume":"92","author":"DE McNay","year":"2007","unstructured":"McNay, D. E.  et al. HESX1 mutations are an uncommon cause of septooptic dysplasia and hypopituitarism. J. Clin. Endocrinol. Metab. 92, 691\u2013697 (2007).","journal-title":"J. Clin. Endocrinol. Metab."},{"key":"BFnrendo2010153_CR28","doi-asserted-by":"publisher","first-page":"289","DOI":"10.1136\/jmg.2008.064337","volume":"46","author":"C James","year":"2009","unstructured":"James, C., Kapoor, R. R., Ismail, D. & Hussain, K. The genetic basis of congenital hyperinsulinism. J. Med. Genet. 46, 289\u2013299 (2009).","journal-title":"J. Med. Genet."},{"key":"BFnrendo2010153_CR29","doi-asserted-by":"publisher","first-page":"122","DOI":"10.1038\/modpathol.3800497","volume":"19","author":"M Suchi","year":"2006","unstructured":"Suchi, M.  et al. Molecular and immunohistochemical analyses of the focal form of congenital hyperinsulinism. Mod. Pathol. 19, 122\u2013129 (2006).","journal-title":"Mod. Pathol."}],"container-title":["Nature Reviews Endocrinology"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/www.nature.com\/articles\/nrendo.2010.153.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/www.nature.com\/articles\/nrendo.2010.153","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/www.nature.com\/articles\/nrendo.2010.153.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,5,19]],"date-time":"2023-05-19T03:34:21Z","timestamp":1684467261000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.nature.com\/articles\/nrendo.2010.153"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2010,9,14]]},"references-count":29,"journal-issue":{"issue":"11","published-print":{"date-parts":[[2010,11]]}},"alternative-id":["BFnrendo2010153"],"URL":"https:\/\/doi.org\/10.1038\/nrendo.2010.153","relation":{},"ISSN":["1759-5029","1759-5037"],"issn-type":[{"value":"1759-5029","type":"print"},{"value":"1759-5037","type":"electronic"}],"subject":[],"published":{"date-parts":[[2010,9,14]]}}}