{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,9,21]],"date-time":"2025-09-21T17:42:33Z","timestamp":1758476553446},"reference-count":38,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2005,6,2]],"date-time":"2005-06-02T00:00:00Z","timestamp":1117670400000},"content-version":"vor","delay-in-days":8310,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Am. J. Med. Genet."],"published-print":{"date-parts":[[1982,9]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>We report another patient with del(11p) and aniridia, catalase deficiency, and cardiomyopathy. This association is confirmed from a review of previously reported cases. Since other dysplasias are known in this syndrome, the hypertrophic cardiomyopathy in del(11p) children may also represent an abnormality of tissue development.<\/jats:p>","DOI":"10.1002\/ajmg.1320130108","type":"journal-article","created":{"date-parts":[[2005,6,11]],"date-time":"2005-06-11T18:44:31Z","timestamp":1118515471000},"page":"39-49","source":"Crossref","is-referenced-by-count":23,"title":["Association of del(11)(p15.1p12), aniridia, catalase deficiency, and cardiomyopathy"],"prefix":"10.1002","volume":"13","author":[{"given":"S.","family":"Gilgenkrantz","sequence":"first","affiliation":[]},{"given":"C.","family":"Vigneron","sequence":"additional","affiliation":[]},{"given":"M. J.","family":"Gregoire","sequence":"additional","affiliation":[]},{"given":"C.","family":"Pernot","sequence":"additional","affiliation":[]},{"given":"A.","family":"Raspiller","sequence":"additional","affiliation":[]},{"given":"John M.","family":"Opitz","sequence":"additional","affiliation":[]}],"member":"311","published-online":{"date-parts":[[2005,6,2]]},"reference":[{"key":"e_1_2_1_2_1","doi-asserted-by":"publisher","DOI":"10.1159\/000308711"},{"key":"e_1_2_1_3_1","volume-title":"Red Cell Metabolism. A Manual of Biochemical Methods","author":"Beutler E","year":"1975"},{"key":"e_1_2_1_4_1","first-page":"109","article-title":"Techniques de dosage des enzymes glycolytiques tissulaires","volume":"25","author":"Cartier P","year":"1967","journal-title":"Ann Biol Clin (Paris)"},{"key":"e_1_2_1_5_1","doi-asserted-by":"publisher","DOI":"10.1016\/0002-9394(78)90029-6"},{"key":"e_1_2_1_6_1","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.77.3.1580"},{"key":"e_1_2_1_7_1","doi-asserted-by":"publisher","DOI":"10.1159\/000131636"},{"key":"e_1_2_1_8_1","doi-asserted-by":"publisher","DOI":"10.1159\/000130809"},{"key":"e_1_2_1_9_1","first-page":"81A","article-title":"Interstitial del(11p) as a cause of the aniridia\u2010Wilms tumor association: Band localisation and a heritable basis","volume":"30","author":"Francke U","year":"1978","journal-title":"Am J Hum Genet"},{"key":"e_1_2_1_10_1","doi-asserted-by":"publisher","DOI":"10.1159\/000131375"},{"key":"e_1_2_1_11_1","volume-title":"Malformation Syndromes","author":"Fraumeni JF","year":"1969"},{"issue":"2","key":"e_1_2_1_11_2","first-page":"198","author":"The National Foundation \u2013 March of Dimes","journal-title":"BD:OAS"},{"key":"e_1_2_1_12_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF00441718"},{"key":"e_1_2_1_13_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF00441719"},{"key":"e_1_2_1_14_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0022-3476(71)80233-0"},{"key":"e_1_2_1_15_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0161-6420(79)35425-2"},{"key":"e_1_2_1_16_1","first-page":"165","article-title":"Regional assignment of catalase (CAT) gene to band 11p13: Association with the aniridia\u2010Wilms tumor\u2010gonadoblastoma (WAGR) complex","volume":"29","author":"Junien C","year":"1980","journal-title":"Ann Genet (Paris)"},{"key":"e_1_2_1_17_1","first-page":"313","article-title":"Mutation and cancer: A model for Wilms tumor of the kidney","volume":"48","author":"Knudsen AG","year":"1972","journal-title":"J Natl Cancer Inst"},{"key":"e_1_2_1_18_1","first-page":"99A","article-title":"Maternal translocation: 46, XX t(11;16) with aniridia\u2010Wilms tumor association in the offspring","volume":"28","author":"Kousseff BG","year":"1980","journal-title":"Clin Res"},{"key":"e_1_2_1_19_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0022-3476(81)80817-7"},{"key":"e_1_2_1_20_1","doi-asserted-by":"publisher","DOI":"10.1126\/science.185.4153.784"},{"key":"e_1_2_1_21_1","first-page":"443","article-title":"Determination des ph\u00e9notypes de quelques enzymes \u00e9rythrocytaires par \u00e9lectrophor\u00e8se sur ac\u00e9tate de cellulose","volume":"33","author":"Le Gall JY","year":"1975","journal-title":"Ann Biol Clin (Paris)"},{"key":"e_1_2_1_22_1","doi-asserted-by":"publisher","DOI":"10.1002\/1097-0142(197901)43:1<205::AID-CNCR2820430130>3.0.CO;2-7"},{"key":"e_1_2_1_23_1","doi-asserted-by":"publisher","DOI":"10.1056\/NEJM196404302701802"},{"key":"e_1_2_1_24_1","doi-asserted-by":"publisher","DOI":"10.1002\/1097-0142(197504)35:4<1212::AID-CNCR2820350427>3.0.CO;2-2"},{"key":"e_1_2_1_25_1","first-page":"97","article-title":"Syndrome de Klinefelter, trilogie de Fallot, t\u00e9ratome du m\u00e9diastin et pubert\u00e9 pr\u00e9coce","volume":"32","author":"Pierson M","year":"1975","journal-title":"Arch Fr Pediatr"},{"key":"e_1_2_1_26_1","first-page":"35","article-title":"Augmentation de la LDHA et trisomie 11p partielle","volume":"29","author":"Rethore MO","year":"1980","journal-title":"Ann Genet (Paris)"},{"key":"e_1_2_1_27_1","doi-asserted-by":"crossref","first-page":"604","DOI":"10.1542\/peds.61.4.604","article-title":"Chromosomal imbalance in the aniridia\u2010Wilms tumor association: 11p interstitial deletion","volume":"61","author":"Riccardi VM","year":"1978","journal-title":"Pediatrics"},{"key":"e_1_2_1_28_1","doi-asserted-by":"publisher","DOI":"10.1016\/0165-4608(80)90056-4"},{"key":"e_1_2_1_29_1","volume-title":"New Syndromes","author":"Smith ACM","year":"1977"},{"issue":"3","key":"e_1_2_1_29_2","first-page":"257","author":"The National Foundation \u2013 March of Dime","journal-title":"BD:OAS"},{"key":"e_1_2_1_30_1","first-page":"158","article-title":"Cranio\u2010pharyngiome et translocation chromosomique 13\u201315","volume":"110","author":"Tridon P","year":"1964","journal-title":"Rev Neurologique"},{"key":"e_1_2_1_31_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF00278949"},{"key":"e_1_2_1_32_1","doi-asserted-by":"publisher","DOI":"10.1016\/0009-8981(74)90080-1"},{"key":"e_1_2_1_33_1","first-page":"122","article-title":"Une methode simple pour obtenir des prophases et des prom\u00e9taphases","volume":"21","author":"Viegas\u2010Pequignot E","year":"1978","journal-title":"Ann Genet (Paris)"},{"key":"e_1_2_1_34_1","first-page":"97","article-title":"Aniridia and interstitial deletion of the short arm of chromosome 11","volume":"4","author":"Warburg M","year":"1980","journal-title":"Metab Ped Ophthal"},{"key":"e_1_2_1_35_1","first-page":"73","article-title":"Assignment of the gene coding for human catalase to short arm of chromosome 11","volume":"23","author":"Wieacker P","year":"1980","journal-title":"Ann Genet (Paris)"},{"key":"e_1_2_1_36_1","first-page":"220","article-title":"Deletion 11p13 and predisposition to aniridia\u2010Wilms tumor","volume":"25","author":"Yunis JJ","year":"1979","journal-title":"Cytogenet Cell Genet"},{"key":"e_1_2_1_37_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0022-3476(80)80630-5"}],"container-title":["American Journal of Medical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fajmg.1320130108","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.1320130108","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,11,12]],"date-time":"2023-11-12T23:16:58Z","timestamp":1699831018000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.1320130108"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1982,9]]},"references-count":38,"journal-issue":{"issue":"1","published-print":{"date-parts":[[1982,9]]}},"alternative-id":["10.1002\/ajmg.1320130108"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.1320130108","archive":["Portico"],"relation":{},"ISSN":["0148-7299","1096-8628"],"issn-type":[{"value":"0148-7299","type":"print"},{"value":"1096-8628","type":"electronic"}],"subject":[],"published":{"date-parts":[[1982,9]]}}}