{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,2,19]],"date-time":"2026-02-19T07:37:56Z","timestamp":1771486676550,"version":"3.50.1"},"reference-count":15,"publisher":"Oxford University Press (OUP)","issue":"1","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2008,2,1]]},"DOI":"10.1215\/15228517-2007-037","type":"journal-article","created":{"date-parts":[[2007,11,9]],"date-time":"2007-11-09T20:44:48Z","timestamp":1194641088000},"page":"93-97","source":"Crossref","is-referenced-by-count":20,"title":["Multifocal anaplastic astrocytoma in a patient with hereditary colorectal cancer, transcobalamin II deficiency, agenesis of the corpus callosum, mental retardation, and inherited PMS2 mutation"],"prefix":"10.1093","volume":"10","author":[{"given":"Sridharan","family":"Gururangan","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Wendy","family":"Frankel","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Russell","family":"Broaddus","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Mark","family":"Clendenning","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Leigha","family":"Senter","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Marie","family":"McDonald","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"James","family":"Eastwood","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"David","family":"Reardon","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"James","family":"Vredenburgh","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jennifer","family":"Quinn","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Henry S.","family":"Friedman","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"286","published-online":{"date-parts":[[2008,2,1]]},"reference":[{"key":"key\n\t\t\t\t20171013140622_REF1","doi-asserted-by":"crossref","unstructured":"Merg A, Lynch HT, Lynch JF, et al. Hereditary colon cancer\u2014part I. Curr Probl Surg. 2005;42: 195-256.","DOI":"10.1067\/j.cpsurg.2005.01.004"},{"key":"key\n\t\t\t\t20171013140622_REF2","doi-asserted-by":"crossref","unstructured":"Lynch HT, de la Chapelle A. Hereditary colorectal cancer. N Engl J Med. 2003;348: 919-932.","DOI":"10.1056\/NEJMra012242"},{"key":"key\n\t\t\t\t20171013140622_REF3","doi-asserted-by":"crossref","unstructured":"Hamilton SR, Liu B, Parsons RE, et al. The molecular basis of Turcot's syndrome. N Engl J Med. 1995;332: 839-847.","DOI":"10.1056\/NEJM199503303321302"},{"key":"key\n\t\t\t\t20171013140622_","doi-asserted-by":"crossref","unstructured":"Nicolaides NC, Papadopoulos NN, Liu BB, et al. Mutations of two PMS homologues in hereditary nonpolyposis colon cancer. Nature. 1994;371: 75-80.","DOI":"10.1038\/sj.onc.1203447"},{"key":"key\n\t\t\t\t20171013140622_","doi-asserted-by":"crossref","unstructured":"De Rosa M, Fasano C, Panariello L, et al. Evidence for a recessive inheritance of Turcot's syndrome caused by compound heterozygous mutations within the PMS2 gene. Oncogene. 2000;19: 1719-1723.","DOI":"10.1038\/sj.onc.1203447"},{"key":"key\n\t\t\t\t20171013140622_REF6","doi-asserted-by":"crossref","unstructured":"De Vos M, Hayward BE, Picton S, et al. Novel PMS2 pseudogenes can conceal recessive mutations causing a distinctive childhood cancer syndrome. Am J Hum Genet. 2004;74: 954-964.","DOI":"10.1086\/420796"},{"key":"key\n\t\t\t\t20171013140622_REF7","doi-asserted-by":"crossref","unstructured":"Nakagawa H, Lockman JC, Frankel WL, et al. Mismatch repair gene PMS2: disease-causing germline mutations are frequent in patients whose tumors stain negative for PMS2 protein, but paralogous genes obscure mutation detection and interpretation. Cancer Res. 2004;64: 4721-4727.","DOI":"10.1158\/0008-5472.CAN-03-2879"},{"key":"key\n\t\t\t\t20171013140622_REF8","doi-asserted-by":"crossref","unstructured":"Clendenning M, Hampel H, LaJeunesse J, et al. Long-range PCR facilitates the identification of PMS2-specific mutations. Hum Mutat. 2006;27: 490-495.","DOI":"10.1002\/humu.20318"},{"key":"key\n\t\t\t\t20171013140622_REF9","doi-asserted-by":"crossref","unstructured":"Hampel H, Frankel W, Panescu J, et al. Screening for Lynch syndrome (hereditary nonpolyposis colorectal cancer) among endometrial cancer patients. Cancer Res. 2006;66: 7810-7817.","DOI":"10.1158\/0008-5472.CAN-06-1114"},{"key":"key\n\t\t\t\t20171013140622_REF10","doi-asserted-by":"crossref","unstructured":"Kuismanen SA, Moisio AL, Schweizer P, et al. Endometrial and colorectal tumors from patients with hereditary nonpolyposis colon cancer display different patterns of microsatellite instability. Am J Pathol. 2002;160: 1953-1958.","DOI":"10.1016\/S0002-9440(10)61144-3"},{"key":"key\n\t\t\t\t20171013140622_REF11","unstructured":"Kamnasaran D. Agenesis of the corpus callosum: lessons from humans and mice. Clin Invest Med. 2005;28: 267-282."},{"key":"key\n\t\t\t\t20171013140622_REF12","doi-asserted-by":"crossref","unstructured":"Hall CA. The neurologic aspects of transcobalamin II deficiency. Br J Haematol. 1992;80: 117-120.","DOI":"10.1111\/j.1365-2141.1992.tb06410.x"},{"key":"key\n\t\t\t\t20171013140622_REF13","doi-asserted-by":"crossref","unstructured":"Monagle PT, Tauro GP. Long-term follow up of patients with transcobalamin II deficiency. Arch Dis Child. 1995;72: 237-238.","DOI":"10.1136\/adc.72.3.237"},{"key":"key\n\t\t\t\t20171013140622_REF14","unstructured":"Kamoun P. Transcobalamin II deficiency. Orphanet Encyclopedia. 2003, 1-2. Available at http:\/\/www.orpha.net\/data\/patho\/GB\/uk-TCII.pdf. Accessed September 24, 2007."},{"key":"key\n\t\t\t\t20171013140622_REF15","doi-asserted-by":"crossref","unstructured":"Seetharam B, Li N. Transcobalamin II and its cell surface receptor. Vitam Horm. 2000;59: 337-366.","DOI":"10.1016\/S0083-6729(00)59012-8"}],"container-title":["Neuro-Oncology"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/academic.oup.com\/neuro-oncology\/article-pdf\/10\/1\/93\/13064908\/NO101_13_Gururangan.pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2017,10,13]],"date-time":"2017-10-13T14:06:39Z","timestamp":1507903599000},"score":1,"resource":{"primary":{"URL":"http:\/\/academic.oup.com\/neuro-oncology\/article\/10\/1\/93\/1226812\/Multifocal-anaplastic-astrocytoma-in-a-patient"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2008,2,1]]},"references-count":15,"journal-issue":{"issue":"1","published-online":{"date-parts":[[2008,2,1]]},"published-print":{"date-parts":[[2008,2,1]]}},"URL":"https:\/\/doi.org\/10.1215\/15228517-2007-037","relation":{},"ISSN":["1523-5866","1522-8517"],"issn-type":[{"value":"1523-5866","type":"electronic"},{"value":"1522-8517","type":"print"}],"subject":[],"published-other":{"date-parts":[[2008,2]]},"published":{"date-parts":[[2008,2,1]]}}}