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Volumn 162, Issue 4, 2003, Pages 267-270

A new case of an interstitial deletion (4)(q25q27) characterised by molecular cytogenetic techniques and review of the literature

Author keywords

Comparative genomic hybridisation; Fluorescent in situ hybridisation; Rieger syndrome

Indexed keywords

DNA;

EID: 0037389252     PISSN: 03406199     EISSN: None     Source Type: Journal    
DOI: 10.1007/s00431-003-1161-7     Document Type: Article
Times cited : (13)

References (18)
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  • 2
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    • 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
    • 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: 191-195
    • (1997) J Med Genet , vol.34 , pp. 191-195
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  • 5
    • 0026744729 scopus 로고
    • Rieger syndrome and interstitial 4q26 deletion
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  • 7
    • 0002813573 scopus 로고    scopus 로고
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  • 9
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    • Chromosome analysis by non-isotopic in situ hybridization
    • Rooney DE, Czepulkowski BH (eds).Oxford IRL Press, Oxford
    • 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 157-192
    • (1992) Human Cytogenetics - A Practical Approach, 2nd Edn , vol.1 , pp. 157-192
    • Lichter, P.1    Cremer, T.2
  • 11
    • 0031921822 scopus 로고    scopus 로고
    • A new approach to the elucidation of complex chromosome rearrangements illustrated by a case of Rieger syndrome
    • 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: 234-237
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  • 13
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    • Deletion of a single chromosome band 4q26 in a malformed girl; Exclusion of Rieger syndrome associated gene(s) from the 4q26 segment
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    • (1988) J Med Genet , vol.25 , pp. 628-633
    • Motegi, T.1    Nakamura, K.2    Terakawa, T.3
  • 14
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    • Second case report of del (4)(q25q27) and review of the literature
    • Raczenbek C, Krassikoff N, Cosper P (1991) Second case report of del (4)(q25q27) and review of the literature. Clin Genet 39: 463-466
    • (1991) Clin Genet , vol.39 , pp. 463-466
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    • 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
    • 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: 1012-1014
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* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.