{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,29]],"date-time":"2025-10-29T06:21:16Z","timestamp":1761718876987},"reference-count":18,"publisher":"Springer Science and Business Media LLC","issue":"4","license":[{"start":{"date-parts":[[2003,2,19]],"date-time":"2003-02-19T00:00:00Z","timestamp":1045612800000},"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":[[2003,4]]},"DOI":"10.1007\/s00431-003-1161-7","type":"journal-article","created":{"date-parts":[[2019,12,11]],"date-time":"2019-12-11T21:45:39Z","timestamp":1576100739000},"page":"267-270","source":"Crossref","is-referenced-by-count":11,"title":["A new case of an interstitial deletion (4)(q25q27) characterised by molecular cytogenetic techniques and review of the literature"],"prefix":"10.1007","volume":"162","author":[{"given":"Sandra Anna","family":"Becker","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Susanne","family":"Popp","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Klaus","family":"Rager","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Anna","family":"Jauch","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"297","published-online":{"date-parts":[[2003,2,19]]},"reference":[{"key":"1161_CR1","doi-asserted-by":"crossref","first-page":"1652","DOI":"10.1007\/PL00000647","volume":"57","author":"Amendt","year":"2000","unstructured":"Amendt BA, Semina EV, Alward WL (2000) Rieger syndrome: a clinical, molecular, and biochemical analysis. Cell Mol Life Sci 57: 1652\u20131666","journal-title":"Cell Mol Life Sci"},{"key":"1161_CR2","doi-asserted-by":"crossref","first-page":"549","DOI":"10.1002\/ajmg.1320310309","volume":"31","author":"Chudley","year":"1988","unstructured":"Chudley AE, Verma MR, Ray M, Riordan D (1988) Interstitial deletion of the long arm of chromosome 4. Am J Med Genet 31: 549\u2013551","journal-title":"Am J Med Genet"},{"key":"1161_CR3","doi-asserted-by":"crossref","first-page":"590","DOI":"10.1007\/BF00202476","volume":"90","author":"Du","year":"1993","unstructured":"Du Manoir S, Speicher MR, Joos S, Schr\u00f6ck E, Popp S, D\u00f6hner H, Kovacs G, Robert-Nicoud M, Lichter P, Cremer T (1993) Detection of complete and partial chromosome gains and losses by comparative genomic in situ hybridization. Hum Genet 90: 590\u2013610","journal-title":"Hum Genet"},{"key":"1161_CR4","doi-asserted-by":"crossref","first-page":"191","DOI":"10.1136\/jmg.34.3.191","volume":"34","author":"Flomen","year":"1997","unstructured":"Flomen RH, Gorman PA, Vatcheva R, Groet J, Barisic I, Ligutic I, Sheer D, Nizetic D (1997) Rieger syndrome locus: a new reciprocal translocation t(4;12)(q25;q15) and a deletion del(4)(q25q27) both break between markers D4S2945 and D4S193. J Med Genet 34: 191\u2013195","journal-title":"J Med Genet"},{"key":"1161_CR5","first-page":"153","volume":"3","author":"Fryns","year":"1992","unstructured":"Fryns JP, Van den Berghe H (1992) Rieger syndrome and interstitial 4q26 deletion. Genet Couns 3: 153\u2013154","journal-title":"Genet Couns"},{"key":"1161_CR6","doi-asserted-by":"crossref","first-page":"661","DOI":"10.1038\/sj.ejhg.5200512","volume":"8","author":"Kirchhoff","year":"2000","unstructured":"Kirchhoff M, Rose H, Maahr J, Gerdes T, Bugge M, Tommerup N, Tumer Z, Lespinasse J, Jensen PK, Wirth J, Lundsteen C (2000) High resolution comparative genomic hybridisation analysis reveals imbalances in dyschromosomal patients with normal or apparently balanced conventional karyotypes. Eur J Hum Genet 8: 661\u2013668","journal-title":"Eur J Hum Genet"},{"key":"1161_CR7","first-page":"3","volume":"8","author":"Kirchhoff","year":"2000","unstructured":"Kirchhoff M, Rose H, Gerdes T, Lundsteen C (2000) Screening for submicrospic chromosomal imbalances by comparative genomic hybridization. ECA Newsletter 8: 3-7","journal-title":"ECA Newsletter"},{"key":"1161_CR8","doi-asserted-by":"crossref","first-page":"165","DOI":"10.1002\/ajmg.1320550206","volume":"55","author":"Kulharya","year":"1995","unstructured":"Kulharya AS, Maberry M, Kubolich MK, Day DW, Schneider NR, Wilson GN, Tonk V (1995) Interstitial deletion 4q21.1, 4q25 and 4q25q27: phenotypic variability and relation to Rieger anomaly. Am J Med Genet 55: 165\u2013170","journal-title":"Am J Med Genet"},{"key":"1161_CR9","unstructured":"Lichter P, Cremer T (1992) Chromosome analysis by non-isotopic in situ hybridization. In: Rooney DE, Czepulkowski BH (eds) Human cytogenetics - a practical approach, 2nd edn, vol 1. Oxford IRL Press, Oxford, pp 157\u2013192"},{"key":"1161_CR10","doi-asserted-by":"crossref","first-page":"323","DOI":"10.1111\/j.1399-0004.1981.tb01042.x","volume":"20","author":"Ligutic","year":"1981","unstructured":"Ligutic I, Brecevic L, Petrovic I, Kalogjera T, Rajic Z (1981) Interstitial deletion 4q and Rieger syndrome. Clin Genet 20: 323\u2013327","journal-title":"Clin Genet"},{"key":"1161_CR11","doi-asserted-by":"crossref","first-page":"234","DOI":"10.1136\/jmg.35.3.234","volume":"35","author":"Mackie","year":"1998","unstructured":"Mackie Ogilvie C, Raymond FL, Harrison RH, Scriven PN, Docherty Z (1998) A new approach to the elucidation of complex chromosome rearrangements illustrated by a case of Rieger syndrome. J Med Genet 35: 234\u2013237","journal-title":"J Med Genet"},{"key":"1161_CR12","doi-asserted-by":"crossref","first-page":"19","DOI":"10.1002\/ajmg.1320570106","volume":"57","author":"Makita","year":"1995","unstructured":"Makita Y, Masuno M, Imaizumi K, Yamashita S, Ohba S, Ito D, Kuroki Y (1995) Rieger syndrome with de novo reciprocal translocation t(1;4)(q23.1q25). Am J Med Genet 57: 19\u201321","journal-title":"Am J Med Genet"},{"key":"1161_CR13","doi-asserted-by":"crossref","first-page":"628","DOI":"10.1136\/jmg.25.9.628","volume":"25","author":"Motegi","year":"1988","unstructured":"Motegi T, Nakamura K, Terakawa T (1988) Deletion of a single chromosome band 4q26 in a malformed girl; exclusion of Rieger syndrome associated gene(s) from the 4q26 segment. J Med Genet 25: 628\u2013633","journal-title":"J Med Genet"},{"key":"1161_CR14","doi-asserted-by":"crossref","first-page":"463","DOI":"10.1111\/j.1399-0004.1991.tb03058.x","volume":"39","author":"Raczenbek","year":"1991","unstructured":"Raczenbek C, Krassikoff N, Cosper P (1991) Second case report of del (4)(q25q27) and review of the literature. Clin Genet 39: 463\u2013466","journal-title":"Clin Genet"},{"key":"1161_CR15","unstructured":"Schinzel A (2001) Catalogue of Unbalanced Chromosome Aberrations in Man. Second Revised and Expanded Edition. Walter de Gruyter, Berlin New York"},{"key":"1161_CR16","doi-asserted-by":"crossref","first-page":"1012","DOI":"10.1136\/jmg.34.12.1012","volume":"34","author":"Schinzel","year":"1997","unstructured":"Schinzel A, Brecevic L, Dutly F, Baumer A, Binkert F, Largo RM (1997) Multiple congenital anomalies including the Rieger eye malformation in a boy with interstitial deletion of (4)(q25q27) secondary to balanced insertion in his normal father: evidence for haplotype insufficiency causing the Rieger malformation. J Med Genet 34: 1012\u20131014","journal-title":"J Med Genet"},{"key":"1161_CR17","doi-asserted-by":"crossref","first-page":"392","DOI":"10.1038\/ng1296-392","volume":"14","author":"Semina","year":"1996","unstructured":"Semina EV, Reiter R, Leysens NJ, Alward WLM Small KW, Datson NA, Siegel-Bartelt J, Bierke-Nelson D, Bitoun P, Zabel BU, Carey JC, Murray JC (1996) Cloning and characterization of a novel bicoid-related homeobox transcription factor gene, RIEG, involved in Rieger syndrome. Nat Genet 14: 392\u2013399","journal-title":"Nat Genet"},{"key":"1161_CR18","doi-asserted-by":"crossref","first-page":"256","DOI":"10.1136\/jmg.29.4.256","volume":"29","author":"Vaux","year":"1992","unstructured":"Vaux C, Sheffield L, Keith CG, Voullaire L (1992) Evidence that Rieger syndrome maps to 4q25 or 4q27. J Med Genet 29: 256\u2013258","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\/s00431-003-1161-7.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/link.springer.com\/article\/10.1007\/s00431-003-1161-7\/fulltext.html","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/link.springer.com\/content\/pdf\/10.1007\/s00431-003-1161-7.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2019,12,11]],"date-time":"2019-12-11T21:45:47Z","timestamp":1576100747000},"score":1,"resource":{"primary":{"URL":"http:\/\/link.springer.com\/10.1007\/s00431-003-1161-7"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2003,2,19]]},"references-count":18,"journal-issue":{"issue":"4","published-print":{"date-parts":[[2003,4]]}},"alternative-id":["1161"],"URL":"https:\/\/doi.org\/10.1007\/s00431-003-1161-7","relation":{},"ISSN":["0340-6199","1432-1076"],"issn-type":[{"value":"0340-6199","type":"print"},{"value":"1432-1076","type":"electronic"}],"subject":[],"published":{"date-parts":[[2003,2,19]]}}}