{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,3,12]],"date-time":"2026-03-12T01:15:21Z","timestamp":1773278121916,"version":"3.50.1"},"reference-count":9,"publisher":"Springer Science and Business Media LLC","issue":"11","license":[{"start":{"date-parts":[[1995,11,1]],"date-time":"1995-11-01T00:00:00Z","timestamp":815184000000},"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":[[1995,11]]},"DOI":"10.1007\/bf01957496","type":"journal-article","created":{"date-parts":[[2005,7,31]],"date-time":"2005-07-31T06:06:07Z","timestamp":1122789967000},"page":"878-881","source":"Crossref","is-referenced-by-count":69,"title":["Frequency of a 22q11 deletion in patients with conotruncal cardiac malformations: A prospective study"],"prefix":"10.1007","volume":"154","author":[{"given":"Kazuhiro","family":"Takahashi","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Sachiko","family":"Kido","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Kenji","family":"Hoshino","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Kiyoshi","family":"Ogawa","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Hirofumi","family":"Ohashi","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yoshimitsu","family":"Fukushima","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"297","reference":[{"key":"BF01957496_CR1","doi-asserted-by":"crossref","first-page":"822","DOI":"10.1136\/jmg.30.10.822","volume":"30","author":"J Burn","year":"1993","unstructured":"Burn J, Takao A, Wilson D, Cross I, Momma K, Wadey R, Scambler P, Goodship J (1993) Conotruncal anomaly face syndrome is associated with a deletion within chromosome 22q11. J Med Genet 30: 822\u2013824","journal-title":"J Med Genet"},{"key":"BF01957496_CR2","first-page":"924","volume":"50","author":"DA Driscoll","year":"1992","unstructured":"Driscoll DA, Budarf ML, Emanuel BS (1992) A genetic etiology for DiGeorge syndrome: Consistent deletions and microdeletions of 22q11. Am J Hum Genet 50: 924\u2013933","journal-title":"Am J Hum Genet"},{"key":"BF01957496_CR3","doi-asserted-by":"crossref","first-page":"261","DOI":"10.1002\/ajmg.1320440237","volume":"44","author":"DA Driscoll","year":"1992","unstructured":"Driscoll DA, Spinner NB, Budarf ML, et al (1992) Deletions and microdeletions of 22q11.2 in velo-cardio-facial syndrome. Am J Med Genet 44: 261\u2013268","journal-title":"Am J Med Genet"},{"key":"BF01957496_CR4","doi-asserted-by":"crossref","first-page":"813","DOI":"10.1136\/jmg.30.10.813","volume":"30","author":"DA Driscoll","year":"1993","unstructured":"Driscoll DA, Salvin J, Sellinger B, Budarf ML, McDonald-McGinn DM, Zackai EH, Emanuel BS (1993) Prevalence of 22q11 microdeletions in Di-George and velocardiofacial syndromes: implications for genetic counseling and prenatal diagnosis. J Med Genet 30: 813\u2013817","journal-title":"J Med Genet"},{"key":"BF01957496_CR5","doi-asserted-by":"crossref","first-page":"807","DOI":"10.1136\/jmg.30.10.807","volume":"30","author":"E Goldmuntz","year":"1993","unstructured":"Goldmuntz E, Driscoll D, Budarf ML, Zackai EH, McDonald-McGinn DM, Biegel JA, Emanuel BS (1993) Microdeletions of chromosomal 22q11 in patients with congenital conotruncal cardiac defects. J Med Genet 30: 807\u2013812","journal-title":"J Med Genet"},{"key":"BF01957496_CR6","first-page":"1078","volume-title":"Mendelian inheritance in man. Catalogs of autosomal dominant, autosomal recessive, and X-linked phenotypes","author":"VA McKusick","year":"1992","unstructured":"McKusick VA (1992) Entries 188400 and 192430 In: Mendelian inheritance in man. Catalogs of autosomal dominant, autosomal recessive, and X-linked phenotypes, 10th edn. Johns Hopkins Univ Press, Baltimore, p 1078\u20131079, 1137","edition":"10th edn"},{"key":"BF01957496_CR7","series-title":"Proceedings of the second World Congress","first-page":"926","volume-title":"Pediatric cardiology","author":"A Takao","year":"1985","unstructured":"Takao A, Terai M, Ando M, Momma K (1985) Cardiovascular malformations in the conotruncal anomaly face syndrome. In: Doyle EF, Engle MA, Gersony WM, et al (eds) Pediatric cardiology. Proceedings of the second World Congress. Springer Verlag, Berlin Heidelberg New York, pp 926\u2013928"},{"key":"BF01957496_CR8","doi-asserted-by":"crossref","unstructured":"Wilson DI, Scambler PJ, Goodship JA, Burn J (1992) Deletion within chromosome 22q11 is a major cause of isolated heart defects and most causes of DiGeorge and velocardiofacial syndromes (abstr P16). Proceedings of the British Paediatric Association Meeting April 7\u201310, Warwick, UK","DOI":"10.1016\/0140-6736(92)92107-Q"},{"key":"BF01957496_CR9","doi-asserted-by":"crossref","first-page":"852","DOI":"10.1136\/jmg.30.10.852","volume":"30","author":"DI Wilson","year":"1993","unstructured":"Wilson DI, Burn J, Scambler P, Goodship J (1993) DiGeorge syndrome: part of CATCH 22. J Med Genet 30: 852\u2013856","journal-title":"J Med Genet"}],"container-title":["European Journal of Pediatrics"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/link.springer.com\/content\/pdf\/10.1007\/BF01957496.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/link.springer.com\/article\/10.1007\/BF01957496\/fulltext.html","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/link.springer.com\/content\/pdf\/10.1007\/BF01957496","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2020,4,8]],"date-time":"2020-04-08T13:18:23Z","timestamp":1586351903000},"score":1,"resource":{"primary":{"URL":"http:\/\/link.springer.com\/10.1007\/BF01957496"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1995,11]]},"references-count":9,"journal-issue":{"issue":"11","published-print":{"date-parts":[[1995,11]]}},"alternative-id":["BF01957496"],"URL":"https:\/\/doi.org\/10.1007\/bf01957496","relation":{},"ISSN":["0340-6199","1432-1076"],"issn-type":[{"value":"0340-6199","type":"print"},{"value":"1432-1076","type":"electronic"}],"subject":[],"published":{"date-parts":[[1995,11]]}}}