{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,12,20]],"date-time":"2025-12-20T21:38:17Z","timestamp":1766266697239},"reference-count":34,"publisher":"Springer Science and Business Media LLC","issue":"2","license":[{"start":{"date-parts":[[1978,1,1]],"date-time":"1978-01-01T00:00:00Z","timestamp":252460800000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/www.springer.com\/tdm"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Hum Genet"],"published-print":{"date-parts":[[1978]]},"DOI":"10.1007\/bf00295418","type":"journal-article","created":{"date-parts":[[2004,11,8]],"date-time":"2004-11-08T11:27:31Z","timestamp":1099913251000},"page":"219-226","source":"Crossref","is-referenced-by-count":18,"title":["Un cas de r\ufffdtinoblastome bilat\ufffdral avec monosomie 13 partielle (q12?q14)"],"prefix":"10.1007","volume":"44","author":[{"given":"Roland","family":"Walbaum","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Pierre","family":"Fran\ufffdois","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jean-Pierre","family":"Farriaux","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Marcel","family":"Woillez","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Evelyne","family":"Belot","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Gilberte","family":"Delassus","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"297","reference":[{"key":"CR1","first-page":"211","volume":"62","author":"C. Auerbach","year":"1946","unstructured":"Auerbach, C.: Chemically induced mosaicism in Drosophila melanogaster. Proc. R. Soc. Edinb. (biol.) B 62, 211?221 (1946)","journal-title":"Proc. R. Soc. Edinb. (biol.)"},{"key":"CR2","doi-asserted-by":"crossref","first-page":"131","DOI":"10.1542\/peds.56.1.131","volume":"56","author":"D. Bentley","year":"1975","unstructured":"Bentley, D.: A case of Down's syndrome complicated by retinoblastoma and celiac disease. Pediatrics 56, 131?133 (1975)","journal-title":"Pediatrics"},{"key":"CR3","first-page":"607","volume":"206","author":"P. Cernea","year":"1973","unstructured":"Cernea, P., Teodorescu, F., Angheloni, T.: Retinoblastome \u00e0 mosaicisme chromosomien 46,XX\/47,XX,G+. Ann. Oculist. (Paris) 206, 607?611 (1973)","journal-title":"Ann. Oculist. (Paris)"},{"key":"CR4","doi-asserted-by":"crossref","first-page":"159","DOI":"10.1007\/BF00278455","volume":"22","author":"A. Czeizel","year":"1974","unstructured":"Czeizel, A., Cs\u00f3sz, L., G\u00e1rdonyi, J., Remen\u00e1r, L., Ruziscka, P.: Chromosome studies in twelve patients with retinoblastoma. Hum. Genet. 22, 159?166 (1974)","journal-title":"Hum. Genet."},{"key":"CR5","doi-asserted-by":"crossref","unstructured":"Day, R. W., Wright, S. W., Koons, A., Quigley, M.: XXX 21-trisomy and retinoblastoma. Lancet 1963 II, 154?155","DOI":"10.1016\/S0140-6736(63)92629-1"},{"key":"CR6","doi-asserted-by":"crossref","first-page":"131","DOI":"10.1159\/000130573","volume":"16","author":"U. Francke","year":"1976","unstructured":"Francke, U.: Retinoblastoma and chromosome 13. Cytogenet. Cell. Genet. 16, 131?134 (1976)","journal-title":"Cytogenet. Cell. Genet."},{"key":"CR7","first-page":"170","volume":"24","author":"U. Francke","year":"1976","unstructured":"Francke, U., Kung, F.: Interstitial del(13)(q12q14) deletion syndrome with retinoblastoma. Clin. Res. 24, 170 (1976)","journal-title":"Clin. Res."},{"key":"CR8","doi-asserted-by":"crossref","first-page":"362","DOI":"10.1007\/BF00278776","volume":"10","author":"W. Gey","year":"1970","unstructured":"Gey, W.: Dq-, multiple Mi\u00dfbildungen und Retinoblastoma. Hum. Genet. 10, 362?365 (1970)","journal-title":"Hum. Genet."},{"key":"CR9","doi-asserted-by":"crossref","first-page":"351","DOI":"10.1136\/jmg.8.3.351","volume":"8","author":"E. Grace","year":"1971","unstructured":"Grace, E., Drennan, J., Colver, D., Gordon, R. R.: The 13q-syndrome. J. med. Genet. 8, 351?357 (1971)","journal-title":"J. med. Genet."},{"key":"CR10","volume-title":"Atlas des maladies chromosomiques","author":"J. Grouchy de","year":"1977","unstructured":"Grouchy, J. de, Turleau, C.: Atlas des maladies chromosomiques. Paris: Expansion scientifique, \u00e9dit. 1977"},{"key":"CR11","volume-title":"Human cytogenetics, Vol. 1","author":"J. L. Hamerton","year":"1971","unstructured":"Hamerton, J. L.: Human cytogenetics, Vol. 1. New York: Academic Press 1971"},{"key":"CR12","doi-asserted-by":"crossref","first-page":"35","DOI":"10.1159\/000152706","volume":"25","author":"N. Hashem","year":"1975","unstructured":"Hashem, N., Khalifa, S.: Retinoblastoma: a model of hereditary fragile chromosomal regions. Hum. Hered. 25, 35?49 (1975)","journal-title":"Hum. Hered."},{"key":"CR13","first-page":"79","volume":"12\/1","author":"J. Herrmann","year":"1976","unstructured":"Herrmann, J.: Delayed mutation as a cause of retinoblastoma: application to genetic counseling. Birth Defects: Or. Art. Ser. 12\/1, 79?90 (1976)","journal-title":"Birth Defects: Or. Art. Ser."},{"key":"CR14","unstructured":"Hossfeld, D. K., H\u00f6pping, W., Vogel, M.: Chromosomal patterns in retinoblastoma (p. 130?131). V. Congreso Internacional de Gen\u00e9tica Humana, M\u00e9xico (1976). Excerpta Medica, Int. Congress Series n\u00b0 397"},{"key":"CR15","doi-asserted-by":"crossref","first-page":"490","DOI":"10.1001\/archopht.1974.01010010504007","volume":"92","author":"R. O. Howard","year":"1974","unstructured":"Howard, R. O., Breg, W. R., Albert, D. M., Lesser, R. L.: Retinoblastoma and chromosome abnormality. Arch. Ophthal. 92, 490?493 (1974)","journal-title":"Arch. Ophthal."},{"key":"CR16","doi-asserted-by":"crossref","first-page":"307","DOI":"10.1056\/NEJM197108052850602","volume":"285","author":"R. D. Jensen","year":"1971","unstructured":"Jensen, R. D., Miller, R. W.: Retinoblastoma: epidemiologic characteristics. New Engl. J. Med. 285, 307?311 (1971)","journal-title":"New Engl. J. Med."},{"key":"CR17","first-page":"92","volume":"34","author":"C. Kempen van","year":"1966","unstructured":"Kempen, C. van. A case of retinoblastoma, combined with severe mental retardation and a few other congenital anomalies, associated with complex aberrations of the karyotype. Maandschr. Kindergeneesk. 34, 92?95 (1966)","journal-title":"Maandschr. Kindergeneesk."},{"key":"CR18","unstructured":"Kempen, C. van: Vijf vormen van autosomal deletie. Een klinischeen cytogenetische studie. Thesis, Nijmegen (1969)"},{"key":"CR19","doi-asserted-by":"crossref","first-page":"1120","DOI":"10.1056\/NEJM197611112952007","volume":"295","author":"A. G. Knudson Jr.","year":"1976","unstructured":"Knudson, A. G. Jr., Meadows, A. T., Nichols, W. W., Hill, R.: Chromosomal deletion and retinoblastoma. New Engl. J. Med. 295, 1120?1123 (1976)","journal-title":"New Engl. J. Med."},{"key":"CR20","doi-asserted-by":"crossref","first-page":"171","DOI":"10.1111\/j.1469-1809.1963.tb00209.x","volume":"27","author":"K. P. Lele","year":"1963","unstructured":"Lele, K. P., Penrose, L. S., Stallard, H. B.: Chromosome deletion in a case of retinoblastoma. Ann. Hum. Genet. 27, 171?174 (1963)","journal-title":"Ann. Hum. Genet."},{"key":"CR21","doi-asserted-by":"crossref","first-page":"124","DOI":"10.1111\/j.1755-3768.1970.tb06580.x","volume":"48","author":"J. Mark","year":"1970","unstructured":"Mark, J.: Chromosomal analysis of a human retinoblastoma. Acta Ophthalmol 48, 124?135 (1970)","journal-title":"Acta Ophthalmol"},{"key":"CR22","first-page":"801","volume":"34","author":"S. Mihail","year":"1974","unstructured":"Mihail, S., Lungeanu, A.: Etudes cytog\u00e9n\u00e9tiques de certains r\u00e9tinoblastomes. Arch. Opht. (Paris) 34, 801?814 (1974)","journal-title":"Arch. Opht. (Paris)"},{"key":"CR23","doi-asserted-by":"crossref","first-page":"637","DOI":"10.1111\/j.1749-6632.1970.tb39373.x","volume":"171","author":"R. W. Miller","year":"1970","unstructured":"Miller, R. W.: Neoplasia and Down's syndrome. Ann. Acad. Sci. N.Y. 171, 637?644 (1970)","journal-title":"Ann. Acad. Sci. N.Y."},{"key":"CR24","doi-asserted-by":"crossref","first-page":"40","DOI":"10.1016\/0002-9394(74)90602-3","volume":"77","author":"R. B. O'Grady","year":"1974","unstructured":"O'Grady, R. B., Rothstein, T. B., Romano, P. E.: D-group deletion syndromes and retinoblastoma. Amer. J. Ophthal. 77, 40?45 (1974)","journal-title":"Amer. J. Ophthal."},{"key":"CR25","doi-asserted-by":"crossref","unstructured":"Orye, E., Delbeke, M. J., Vandenabeele, B.: Retinoblastoma and D-chromosome deletions. Lancet 1971 II, 1376","DOI":"10.1016\/S0140-6736(71)92394-4"},{"key":"CR26","doi-asserted-by":"crossref","first-page":"457","DOI":"10.1111\/j.1399-0004.1974.tb01719.x","volume":"5","author":"E. Orye","year":"1974","unstructured":"Orye, E., Delbeke, M. J., Vandenabeele, B.: Retinoblastoma and long arm deletion of chromosome 13: attempts to define the deleted segment. Clin. Genet. 5, 457?464 (1974)","journal-title":"Clin. Genet."},{"key":"CR27","first-page":"533","volume":"29","author":"M. O. R\u00e9thor\u00e9","year":"1972","unstructured":"R\u00e9thor\u00e9, M. O., Saraux, H., Prieur, M., Dutrillaux, B., Meer, J. J., Lejeune, J.: Syndrome 48,XXY,+21 et r\u00e9tinoblastome. Arch. Fran\u00e7. P\u00e9diat. 29, 533?538 (1972)","journal-title":"Arch. Fran\u00e7. P\u00e9diat."},{"key":"CR28","doi-asserted-by":"crossref","first-page":"495","DOI":"10.1136\/bjo.48.9.495","volume":"48","author":"A. Taktikos","year":"1964","unstructured":"Taktikos, A.: Association of retinoblastoma with mental defect and other pathological manifestations. Brit. J. Ophthal. 48, 495?498 (1964)","journal-title":"Brit. J. Ophthal."},{"key":"CR29","doi-asserted-by":"crossref","first-page":"209","DOI":"10.1007\/BF00295782","volume":"10","author":"A. I. Taylor","year":"1970","unstructured":"Taylor, A. I.: Dq-,Dr and retinoblastoma. Hum. Genet. 10, 209?217 (1970)","journal-title":"Hum. Genet."},{"key":"CR30","first-page":"21","volume":"15","author":"H. Thompson","year":"1965","unstructured":"Thompson, H., Lyons, R. B.: Retinoblastoma and multiple congenital anomalies, associated with complex mosaicism with deletion of D-chromosome and probably D\/C translocation. Hum. Chromosome News-Letter 15, 21 (1965)","journal-title":"Hum. Chromosome News-Letter"},{"key":"CR31","unstructured":"Welch, J. P., Fiander, D. C., Main, M.: Evidence for chromosomal instability in retinoblastoma patients and band assignment of the occasionally associated chromosome 13 deletion. Amer. J. Hum. Genet. 29, 113 A (1977)"},{"key":"CR32","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1111\/j.1399-0004.1977.tb00894.x","volume":"12","author":"M. G. Wilson","year":"1977","unstructured":"Wilson, M. G., Ebbin, A. J., Towner, J. W., Spencer, W. H.: Chromosomal anomalies in patients with retinoblastoma. Clin. Genet. 12, 1?8 (1977)","journal-title":"Clin. Genet."},{"key":"CR33","doi-asserted-by":"crossref","first-page":"322","DOI":"10.1136\/jmg.6.3.322","volume":"6","author":"M. G. Wilson","year":"1969","unstructured":"Wilson, M. G., Melnyk, J., Towner, J. W.: Retinoblastoma and deletion D(14) syndrome. J. Med. Genet. 6, 322?327 (1969)","journal-title":"J. Med. Genet."},{"key":"CR34","first-page":"57","volume":"25","author":"M. G. Wilson","year":"1973","unstructured":"Wilson, M. G., Towner, J. W., Fujimoto, A.: Retinoblastoma and D-chromosome deletions. Amer. J. Hum. Genet. 25, 57?61 (1973)","journal-title":"Amer. J. Hum. Genet."}],"container-title":["Human Genetics"],"original-title":[],"language":"fr","link":[{"URL":"http:\/\/link.springer.com\/content\/pdf\/10.1007\/BF00295418.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/link.springer.com\/article\/10.1007\/BF00295418\/fulltext.html","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/link.springer.com\/content\/pdf\/10.1007\/BF00295418","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,4,30]],"date-time":"2023-04-30T01:22:41Z","timestamp":1682817761000},"score":1,"resource":{"primary":{"URL":"http:\/\/link.springer.com\/10.1007\/BF00295418"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1978]]},"references-count":34,"journal-issue":{"issue":"2","published-print":{"date-parts":[[1978]]}},"alternative-id":["BF00295418"],"URL":"https:\/\/doi.org\/10.1007\/bf00295418","relation":{},"ISSN":["0340-6717","1432-1203"],"issn-type":[{"value":"0340-6717","type":"print"},{"value":"1432-1203","type":"electronic"}],"subject":[],"published":{"date-parts":[[1978]]}}}