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Volumn 25, Issue 1, 2005, Pages 20-22

Prenatal diagnosis of Fanconi anemia (Group C) subsequent to abnormal sonographic findings

Author keywords

Fanconi anemia (Group C); Radial aplasia; Ultrasound; Ventriculomegaly

Indexed keywords

ARTICLE; CAFE AU LAIT SPOT; CASE REPORT; CONGENITAL MALFORMATION; FANCONI ANEMIA; FETUS; FETUS ECHOGRAPHY; GROWTH RETARDATION; HEMATOLOGIC DISEASE; HUMAN; HYPOPLASIA; MICROCEPHALY; MICROPHTHALMIA; PRENATAL DIAGNOSIS; PRIORITY JOURNAL;

EID: 13244284909     PISSN: 01973851     EISSN: None     Source Type: Journal    
DOI: 10.1002/pd.1055     Document Type: Article
Times cited : (10)

References (10)
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    • Auerbach, A.D.1
  • 2
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    • The need for more accurate and timely diagnosis in Fanconi anemia: A report from the international Fanconi anemia registry
    • Giampietro PF, Adler-Brecher B, Verlander PC, Pavlakis SG, Davis JG, Auerbach AD. 1993. The need for more accurate and timely diagnosis in Fanconi anemia: a report from the international Fanconi anemia registry. Pediatrics 91: 1116-1120.
    • (1993) Pediatrics , vol.91 , pp. 1116-1120
    • Giampietro, P.F.1    Adler-Brecher, B.2    Verlander, P.C.3    Pavlakis, S.G.4    Davis, J.G.5    Auerbach, A.D.6
  • 3
    • 18444362122 scopus 로고    scopus 로고
    • Biallelic inactivation of BRCA2 in Fanconi anemia
    • Howlett NG, Taniguchi T, Olson S, et al. 2002. Biallelic inactivation of BRCA2 in Fanconi anemia. Science 297: 606-609.
    • (2002) Science , vol.297 , pp. 606-609
    • Howlett, N.G.1    Taniguchi, T.2    Olson, S.3
  • 4
    • 13244266064 scopus 로고    scopus 로고
    • 2/10/03
    • International Fanconi Anemia Registry, http://clinfo.rockefeller.edu/ fanconi/ptrecrt.html. 2/10/03.
  • 5
    • 0141484612 scopus 로고    scopus 로고
    • A novel ubiquitin ligase is deficient in Fanconi anemia
    • Meetei AR, de Winter JP, Medhurst AL, et al. 2003. A novel ubiquitin ligase is deficient in Fanconi anemia. Nat Genet 35: 165-170.
    • (2003) Nat Genet , vol.35 , pp. 165-170
    • Meetei, A.R.1    De Winter, J.P.2    Medhurst, A.L.3
  • 6
    • 0026497386 scopus 로고
    • Fanconi anemia: A model for genetic causes of abnormal brain development
    • Pavlakis SG, Frissora CL, Giampietro PF, et al. 1992. Fanconi anemia: a model for genetic causes of abnormal brain development. Dev Med Child Neurol 34: 1081-1084.
    • (1992) Dev Med Child Neurol , vol.34 , pp. 1081-1084
    • Pavlakis, S.G.1    Frissora, C.L.2    Giampietro, P.F.3
  • 8
    • 0028858123 scopus 로고
    • Carrier frequency of the IVS4 + 4A → T mutation of the Fanconi anemia gene FAC in the Ashkenazi Jewish population
    • Verlander PC, Kaporis A, Liu Q, Zhang Q, Seligsohn U, Auerbach AD. 1995. Carrier frequency of the IVS4 + 4A → T mutation of the Fanconi anemia gene FAC in the Ashkenazi Jewish population. Blood 86: 4034-4038.
    • (1995) Blood , vol.86 , pp. 4034-4038
    • Verlander, P.C.1    Kaporis, A.2    Liu, Q.3    Zhang, Q.4    Seligsohn, U.5    Auerbach, A.D.6
  • 9
    • 0028231738 scopus 로고
    • Mutation analysis of the Fanconi anemia gene FACC
    • Verlander PC, Lin JD, Udono MU, it, et al. 1994. Mutation analysis of the Fanconi anemia gene FACC. Am J Hum Genet 54: 595-601.
    • (1994) Am J Hum Genet , vol.54 , pp. 595-601
    • Verlander, P.C.1    Lin, J.D.2    Udono, M.U.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.