{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,20]],"date-time":"2026-08-20T15:56:11Z","timestamp":1787241371235,"version":"build-2736575974"},"reference-count":14,"publisher":"Springer Science and Business Media LLC","issue":"4","license":[{"start":{"date-parts":[[2000,12,1]],"date-time":"2000-12-01T00:00:00Z","timestamp":975628800000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/www.springer.com\/tdm"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Pathol. Oncol. Res."],"published-print":{"date-parts":[[2000,12]]},"DOI":"10.1007\/bf03187335","type":"journal-article","created":{"date-parts":[[2010,6,15]],"date-time":"2010-06-15T16:11:18Z","timestamp":1276618278000},"page":"295-297","source":"Crossref","is-referenced-by-count":8,"title":["Acid sphingomyelinase deficiency in Beckwith-Wiedemann syndrome"],"prefix":"10.1007","volume":"6","author":[{"given":"Lajos A.","family":"R\u00e9thy","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Roz\u00e1lia","family":"K\u00e1lm\u00e1nchey","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Val\u00e9ria","family":"Klujber","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Roz\u00e1lia","family":"Ko\u00f3s","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Gy\u00f6rgy","family":"Fekete","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","reference":[{"key":"BF03187335_CR1","doi-asserted-by":"crossref","first-page":"560","DOI":"10.1136\/jmg.31.7.560","volume":"31","author":"M Eliot","year":"1994","unstructured":"Eliot M, Malier ER: Beckwifh-Wiedemann syndrome. J Med Genet 31:560\u2013564, 1994.","journal-title":"J Med Genet"},{"key":"BF03187335_CR2","doi-asserted-by":"crossref","first-page":"47","DOI":"10.1016\/S0022-3476(80)80322-2","volume":"96","author":"C Sotelo-Avila","year":"1980","unstructured":"Sotelo-Avila C, Gonzalez-Crussi F, Fowler JW: Complete and incomplete forms of Beckwith-Wiedemann syndrome: Their oncogenic potential. J Pediatr 96:47\u201350, 1980.","journal-title":"J Pediatr"},{"key":"BF03187335_CR3","first-page":"429","volume":"414","author":"HR Wiedemann","year":"1983","unstructured":"Wiedemann HR: Tumors and hemihypertrophy associated with Wiedemann-Beckwith syndrome. Eur J Pediatr 414:429, 1983.","journal-title":"Eur J Pediatr"},{"key":"BF03187335_CR4","doi-asserted-by":"crossref","first-page":"330","DOI":"10.1016\/S0168-9525(97)01200-6","volume":"13","author":"W Reik","year":"1997","unstructured":"Reik W Maher ER: Imprinting in clusters: lessons from Beck-with-Wiedemann syndrome: Trends Genet 13:330\u2013334, 1997.","journal-title":"Trends Genet"},{"key":"BF03187335_CR5","first-page":"1743s","volume":"59","author":"AP Feinberg","year":"1999","unstructured":"Feinberg AP: Imprinting of a genomic domain of 11p15 and loss of imprinting in cancer: an introduction. Cancer Res 59 (Suppl):1743s-1746s, 1999.","journal-title":"Cancer Res"},{"key":"BF03187335_CR6","first-page":"2601","volume-title":"The metabolic and molecular basis of inherited disease","author":"EH Schuchman","year":"1995","unstructured":"Schuchman, EH, Desnick RJ: Niemann-Pick disease types A and B: acid sphingomyelinase deficiencies. In: Scriver C.R., Beaudet A.L., Sly WS., Valle D (eds.): The metabolic and molecular basis of inherited disease, 7th ed. McGraw-Hill, New York, 1995. pp 2601\u20132624.","edition":"7th ed."},{"key":"BF03187335_CR7","doi-asserted-by":"crossref","first-page":"167","DOI":"10.1159\/000015336","volume":"86","author":"P Gaudray","year":"1999","unstructured":"Gaudray P, Carle GF, Gerhard DS, et al: Report of the Sixth International Workshop on Human Chromosome 11 Mapping 1998. Nice, France, May 2\u20135, 1998. Cytogenet Cell Genet 86:167\u2013186, 1999.","journal-title":"Cytogenet Cell Genet"},{"key":"BF03187335_CR8","doi-asserted-by":"crossref","first-page":"287","DOI":"10.1002\/ajmg.1320300130","volume":"30","author":"G Neri","year":"1988","unstructured":"Neri G, Marini R, Cappa M, et al: Simpson-Golabi-Behmel syndrome: an X-linked encephalo-trophoschisis syndrome. Am J Med Genet 30:287\u2013299, 1988.","journal-title":"Am J Med Genet"},{"key":"BF03187335_CR9","doi-asserted-by":"crossref","first-page":"895","DOI":"10.1007\/BF01954125","volume":"151","author":"RG Grundy","year":"1992","unstructured":"Grundy RG, Pritchard J, Baraitser M, et al: Perlman and Wiedemann-Beckwith syndromes: two distinct conditions associated with Wilms\u2019 tumour. Eur J Pediatr 151:895\u2013898, 1992.","journal-title":"Eur J Pediatr"},{"key":"BF03187335_CR10","volume-title":"An atlas of characteristic syndromes","author":"HR Wiedemann","year":"1985","unstructured":"Wiedemann HR, Grosse KR, Dibbern H: An atlas of characteristic syndromes. Wolfe Medical Publications, London, 1985."},{"key":"BF03187335_CR11","first-page":"22","volume":"29","author":"MM Cohen","year":"1992","unstructured":"Cohen MM, Jr: A comprehensive and critical assessment of overgrowth and overgrowth syndromes. Adv Hum Genet 29:22\u201325, 1992.","journal-title":"Adv Hum Genet"},{"key":"BF03187335_CR12","doi-asserted-by":"crossref","first-page":"490","DOI":"10.1002\/(SICI)1096-911X(199611)27:5<490::AID-MPO17>3.0.CO;2-E","volume":"27","author":"M Mannens","year":"1996","unstructured":"Mannens M, Alders M, Redeker B, et al: Positional cloning of genes involved in the Beckwith-Wiedemann syndrome, hemihypertrophy, and associated childhood tumors. Med Pediatr Oncol 27:490\u2013494, 1996.","journal-title":"Med Pediatr Oncol"},{"key":"BF03187335_CR13","unstructured":"Bliek J, Alders M, Ryan A, et al: The Beckwith-Wiedemann syndrome: entrance to genes involved in growth regulation. Abstract of the 6th International Workshop on Human Chromosome 11, Nice, France, 1998. URL: http:\/\/wwwiag.unice.fr\/ workshop\/SCW11-6-Abstracts.html"},{"key":"BF03187335_CR14","doi-asserted-by":"crossref","first-page":"222","DOI":"10.1159\/000133917","volume":"68","author":"E Redeker","year":"1995","unstructured":"Redeker E, Alders M. Hoovers J, et al: Physical mapping of 3 candidate tumour suppressor genes relative to BWS associated chromosomal breakpoints at 11 p 15.3. Cytogenet Cell Genet 68:222\u2013225, 1995.","journal-title":"Cytogenet Cell Genet"}],"container-title":["Pathology &amp; Oncology Research"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/link.springer.com\/content\/pdf\/10.1007\/BF03187335.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/link.springer.com\/article\/10.1007\/BF03187335\/fulltext.html","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/link.springer.com\/content\/pdf\/10.1007\/BF03187335","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2019,5,22]],"date-time":"2019-05-22T16:05:33Z","timestamp":1558541133000},"score":1,"resource":{"primary":{"URL":"http:\/\/link.springer.com\/10.1007\/BF03187335"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2000,12]]},"references-count":14,"journal-issue":{"issue":"4","published-print":{"date-parts":[[2000,12]]}},"alternative-id":["BF03187335"],"URL":"https:\/\/doi.org\/10.1007\/bf03187335","relation":{},"ISSN":["1219-4956"],"issn-type":[{"value":"1219-4956","type":"print"}],"subject":[],"published":{"date-parts":[[2000,12]]}}}