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Volumn 205, Issue 6, 2011, Pages e6-

Williams-Beuren syndrome: The prenatal phenotype

Author keywords

prenatal BACs on Beads; prenatal diagnosis; ultrasound; Williams Beuren syndrome

Indexed keywords

ADULT; AMNIOCENTESIS; ANEUPLOIDY; AORTA STENOSIS; ARTICLE; BACTERIAL ARTIFICIAL CHROMOSOME; CASE REPORT; CROWN RUMP LENGTH; ECHOGRAPHY; FACE DYSMORPHIA; FEMALE; FIRST TRIMESTER PREGNANCY; FLUORESCENCE IN SITU HYBRIDIZATION; GENETIC COUNSELING; GESTATIONAL AGE; HUMAN; HYPOPLASIA; INTRAUTERINE GROWTH RETARDATION; KARYOTYPE 46,XX; NUCHAL TRANSLUCENCY MEASUREMENT; PREGNANCY OUTCOME; PREGNANCY TERMINATION; PRENATAL DIAGNOSIS; PRIORITY JOURNAL; SECOND TRIMESTER PREGNANCY; WILLIAMS BEUREN SYNDROME;

EID: 81855193996     PISSN: 00029378     EISSN: 10976868     Source Type: Journal    
DOI: 10.1016/j.ajog.2011.09.017     Document Type: Article
Times cited : (17)

References (10)
  • 1
    • 79954741750 scopus 로고    scopus 로고
    • Prenatal BACs-on-Beads: A new technology for rapid detection of aneuploidies and microdeletions in prenatal diagnosis
    • F. Vialard, G. Simoni, and A. Aboura Prenatal BACs-on-Beads: a new technology for rapid detection of aneuploidies and microdeletions in prenatal diagnosis Prenat Diagn 31 2011 500 508
    • (2011) Prenat Diagn , vol.31 , pp. 500-508
    • Vialard, F.1    Simoni, G.2    Aboura, A.3
  • 3
    • 0001447853 scopus 로고
    • Supravalvular aortic stenosis in association with mental retardation and a certain facial appearance
    • A.J. Beuren, J. Apitz, and D. Harmjanz Supravalvular aortic stenosis in association with mental retardation and a certain facial appearance Circulation 26 1962 1235 1240
    • (1962) Circulation , vol.26 , pp. 1235-1240
    • Beuren, A.J.1    Apitz, J.2    Harmjanz, D.3
  • 4
    • 81855216481 scopus 로고    scopus 로고
    • Williams syndrome
    • S.B. Cassidy, J.E. Allanson, 2nd ed.
    • C. Morris Williams syndrome S.B. Cassidy, J.E. Allanson, Management of genetic syndromes 2nd ed. 2005 909 924
    • (2005) Management of Genetic Syndromes , pp. 909-924
    • Morris, C.1
  • 7
    • 0018865534 scopus 로고
    • ZUR GENETIK DES WILLIAMS-BEUREN-SYNDROMS UND DER ISOLIERTEN FORM DER SUPRAVALULAREN AORTENSTENOSE. UNTERSUCHUNGEN VON 128 FAMILIEN
    • T. Grimm, and H. Wesselhoeft [The genetic aspects of Williams-Beuren syndrome and the isolated form of the supravalvular aortic stenosis. Investigation of 128 families (author's translation)] Z Kardiol 69 1980 168 172 (Pubitemid 10148605)
    • (1980) Zeitschrift fur Kardiologie , vol.69 , Issue.3 , pp. 168-172
    • Grimm, T.1    Wesselhoeft, H.2
  • 8
    • 78349311628 scopus 로고    scopus 로고
    • Prenatal and postnatal diagnosis of 22q11.2 deletion syndrome
    • F. Bretelle, L. Beyer, and M.C. Pellissier Prenatal and postnatal diagnosis of 22q11.2 deletion syndrome Eur J Med Genet 53 2010 367 370
    • (2010) Eur J Med Genet , vol.53 , pp. 367-370
    • Bretelle, F.1    Beyer, L.2    Pellissier, M.C.3
  • 9
    • 79953319580 scopus 로고    scopus 로고
    • Microduplication of 4p16.3 due to an unbalanced translocation resulting in a mild phenotype
    • E.P. Carmany, and E.V. Bawle Microduplication of 4p16.3 due to an unbalanced translocation resulting in a mild phenotype Am J Med Genet A 155A 2011 819 824
    • (2011) Am J Med Genet A , vol.155 A , pp. 819-824
    • Carmany, E.P.1    Bawle, E.V.2
  • 10
    • 10644295602 scopus 로고    scopus 로고
    • Prenatal ultrasound findings of lissencephaly associated with Miller-Dieker syndrome and comparison with pre- and postnatal magnetic resonance imaging
    • DOI 10.1002/uog.1777
    • K.W. Fong, S. Ghai, A. Toi, S. Blaser, E.J. Winsor, and D. Chitayat Prenatal ultrasound findings of lissencephaly associated with Miller-Dieker syndrome and comparison with pre- and postnatal magnetic resonance imaging Ultrasound Obstet Gynecol 24 2004 716 723 (Pubitemid 39657873)
    • (2004) Ultrasound in Obstetrics and Gynecology , vol.24 , Issue.7 , pp. 716-723
    • Fong, K.W.1    Ghai, S.2    Toi, A.3    Blaser, S.4    Winsor, E.J.T.5    Chitayat, D.6


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.