{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2024,7,15]],"date-time":"2024-07-15T17:11:26Z","timestamp":1721063486139},"reference-count":9,"publisher":"Springer Science and Business Media LLC","issue":"1","license":[{"start":{"date-parts":[[2012,7,5]],"date-time":"2012-07-05T00:00:00Z","timestamp":1341446400000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/www.springer.com\/tdm"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Eur J Pediatr"],"published-print":{"date-parts":[[2013,1]]},"DOI":"10.1007\/s00431-012-1770-0","type":"journal-article","created":{"date-parts":[[2012,7,17]],"date-time":"2012-07-17T15:20:24Z","timestamp":1342538424000},"page":"127-129","source":"Crossref","is-referenced-by-count":7,"title":["A child with isolated nephrotic syndrome and WT1 mutation presenting as a 46, XY phenotypic male"],"prefix":"10.1007","volume":"172","author":[{"given":"Yonghui","family":"Yang","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Dongning","family":"Feng","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jun","family":"Huang","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Xiaojing","family":"Nie","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Zihua","family":"Yu","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"297","published-online":{"date-parts":[[2012,7,5]]},"reference":[{"key":"1770_CR1","doi-asserted-by":"crossref","first-page":"1393","DOI":"10.1007\/s00467-006-0225-0","volume":"21","author":"F Aucella","year":"2006","unstructured":"Aucella F, Bisceglia L, De Bonis P, Gigante M, Caridi G, Barbano G, Mattioli G, Perfumo F, Gesualdo L, Ghiggeri GM (2006) WT1 mutations in nephrotic syndrome revisited. High prevalence in young girls, associations and renal phenotypes. Pediatr Nephrol 21:1393\u20131398","journal-title":"Pediatr Nephrol"},{"key":"1770_CR2","doi-asserted-by":"crossref","first-page":"1621","DOI":"10.1007\/s00467-010-1495-0","volume":"25","author":"G Benoit","year":"2010","unstructured":"Benoit G, Machuca E, Antignac C (2010) Hereditary nephrotic syndrome: a systematic approach for genetic testing and a review of associated podocyte gene mutations. Pediatr Nephrol 25:1621\u20131632","journal-title":"Pediatr Nephrol"},{"key":"1770_CR3","doi-asserted-by":"crossref","first-page":"1655","DOI":"10.2215\/CJN.09351209","volume":"5","author":"Chernin G, Vega-Warner V, Schoeb DS, Heeringa SF, Ovunc B, Saisawat P, Cleper R, Ozaltin F, Hildebrandt F; Members of the GPN Study Group","year":"2010","unstructured":"Chernin G, Vega-Warner V, Schoeb DS, Heeringa SF, Ovunc B, Saisawat P, Cleper R, Ozaltin F, Hildebrandt F; Members of the GPN Study Group (2010) Genotype\/phenotype correlation in nephrotic syndrome caused by WT1 mutations. Clin J Am Soc Nephrol 5:1655\u20131662","journal-title":"Clin J Am Soc Nephrol"},{"key":"1770_CR4","doi-asserted-by":"crossref","first-page":"63","DOI":"10.1007\/s00467-007-0620-1","volume":"23","author":"HY Cho","year":"2008","unstructured":"Cho HY, Lee JH, Choi HJ, Lee BH, Ha IS, Choi Y, Cheong HI (2008) WT1 and NPHS2 mutations in Korean children with steroid-resistant nephrotic syndrome. Pediatr Nephrol 23:63\u201370","journal-title":"Pediatr Nephrol"},{"key":"1770_CR5","doi-asserted-by":"crossref","first-page":"155","DOI":"10.1203\/PDR.0b013e3181e4c9e3","volume":"68","author":"J Li","year":"2010","unstructured":"Li J, Ding J, Zhao D, Yu Z, Fan Q, Chen Y, Zhang H, Zhong X, Huang J, Yao Y, Xiao H (2010) WT1 gene mutations in Chinese children with early onset nephrotic syndrome. Pediatr Res 68:155\u2013158","journal-title":"Pediatr Res"},{"key":"1770_CR6","doi-asserted-by":"crossref","first-page":"325","DOI":"10.1203\/01.pdr.0000196717.94518.f0","volume":"59","author":"Mucha B, Ozaltin F, Hinkes BG, Hasselbacher K, Ruf RG, Schultheiss M, Hangan D, Hoskins BE, Everding AS, Bogdanovic R, Seeman T, Hoppe B, Hildebrandt F; Members of the APN Study Group","year":"2006","unstructured":"Mucha B, Ozaltin F, Hinkes BG, Hasselbacher K, Ruf RG, Schultheiss M, Hangan D, Hoskins BE, Everding AS, Bogdanovic R, Seeman T, Hoppe B, Hildebrandt F; Members of the APN Study Group (2006) Mutations in the Wilms\u2019 tumor 1 gene cause isolated steroid resistant nephrotic syndrome and occur in exons 8 and 9. Pediatr Res 59:325\u2013331","journal-title":"Pediatr Res"},{"key":"1770_CR7","doi-asserted-by":"crossref","first-page":"564","DOI":"10.1111\/j.1523-1755.2004.00775.x","volume":"66","author":"Ruf RG, Schultheiss M, Lichtenberger A, Karle SM, Zalewski I, Mucha B, Everding AS, Neuhaus T, Patzer L, Plank C, Haas JP, Ozaltin F, Imm A, Fuchshuber A, Bakkaloglu A, Hildebrandt F; Members of the APN Study Group","year":"2004","unstructured":"Ruf RG, Schultheiss M, Lichtenberger A, Karle SM, Zalewski I, Mucha B, Everding AS, Neuhaus T, Patzer L, Plank C, Haas JP, Ozaltin F, Imm A, Fuchshuber A, Bakkaloglu A, Hildebrandt F; Members of the APN Study Group (2004) Prevalence of WT1 mutations in a large cohort of patients with steroid-resistant and steroid-sensitive nephrotic syndrome. Kidney Int 66:564\u2013570","journal-title":"Kidney Int"},{"key":"1770_CR8","doi-asserted-by":"crossref","first-page":"698","DOI":"10.1136\/jmg.37.9.698","volume":"37","author":"A Takata","year":"2000","unstructured":"Takata A, Kikuchi H, Fukuzawa R, Ito S, Honda M, Hata J (2000) Constitutional WT1 mutations correlate with clinical features in children with progressive nephropathy. J Med Genet 37:698\u2013701","journal-title":"J Med Genet"},{"key":"1770_CR9","doi-asserted-by":"crossref","first-page":"902","DOI":"10.1093\/ndt\/gfh769","volume":"20","author":"Z Yu","year":"2005","unstructured":"Yu Z, Ding J, Huang J, Yao Y, Xiao H, Zhang J, Liu J, Yang J (2005) Mutations in NPHS2 in sporadic steroid-resistant nephrotic syndrome in Chinese children. Nephrol Dial Transplant 20:902\u2013908","journal-title":"Nephrol Dial Transplant"}],"container-title":["European Journal of Pediatrics"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/link.springer.com\/content\/pdf\/10.1007\/s00431-012-1770-0.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/link.springer.com\/article\/10.1007\/s00431-012-1770-0\/fulltext.html","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/link.springer.com\/content\/pdf\/10.1007\/s00431-012-1770-0","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2019,5,28]],"date-time":"2019-05-28T22:22:17Z","timestamp":1559082137000},"score":1,"resource":{"primary":{"URL":"http:\/\/link.springer.com\/10.1007\/s00431-012-1770-0"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2012,7,5]]},"references-count":9,"journal-issue":{"issue":"1","published-print":{"date-parts":[[2013,1]]}},"alternative-id":["1770"],"URL":"https:\/\/doi.org\/10.1007\/s00431-012-1770-0","relation":{},"ISSN":["0340-6199","1432-1076"],"issn-type":[{"value":"0340-6199","type":"print"},{"value":"1432-1076","type":"electronic"}],"subject":[],"published":{"date-parts":[[2012,7,5]]}}}