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Journal Abstract Search

221 related items for PubMed ID: 1433238

  • 1. A male with trisomy 9 mosaicism and maternal uniparental disomy for chromosome 9 in the euploid cell line.
    Willatt LR, Davison BC, Goudie D, Alexander J, Dyson HM, Jenks PE, Ferguson-Smith ME.
    J Med Genet; 1992 Oct; 29(10):742-4. PubMed ID: 1433238
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  • 4. Recurrent trisomy 21 in a couple with a child presenting trisomy 21 mosaicism and maternal uniparental disomy for chromosome 21 in the euploid cell line.
    Bruyère H, Rupps R, Kuchinka BD, Friedman JM, Robinson WP.
    Am J Med Genet; 2000 Sep 04; 94(1):35-41. PubMed ID: 10982480
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  • 6. A clinical and molecular study of mosaicism for trisomy 17.
    Shaffer LG, McCaskill C, Hersh JH, Greenberg F, Lupski JR.
    Hum Genet; 1996 Jan 04; 97(1):69-72. PubMed ID: 8557263
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  • 9. Prader-Willi syndrome in a child with mosaic trisomy 15 and mosaic triplo-X: a molecular analysis.
    Devriendt K, Matthijs G, Claes S, Legius E, Proesmans W, Cassiman JJ, Fryns JP.
    J Med Genet; 1997 Apr 04; 34(4):318-22. PubMed ID: 9138157
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  • 10. Trisomy 7 mosaicism prenatally misdiagnosed and maternal uniparental disomy in a child with pigmentary mosaicism and Russell- Silver syndrome.
    Petit F, Holder-Espinasse M, Duban-Bedu B, Bouquillon S, Boute-Benejean O, Bazin A, Rouland V, Manouvrier-Hanu S, Delobel B.
    Clin Genet; 2012 Mar 04; 81(3):265-71. PubMed ID: 21204802
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  • 11. Trisomy 10 mosaicism and maternal uniparental disomy 10 in a liveborn infant with severe congenital malformations.
    Hahnemann JM, Nir M, Friberg M, Engel U, Bugge M.
    Am J Med Genet A; 2005 Oct 01; 138A(2):150-4. PubMed ID: 16114048
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  • 12. Trisomy 12 mosaicism confirmed in multiple organs from a liveborn child.
    DeLozier-Blanchet CD, Roeder E, Denis-Arrue R, Blouin JL, Low J, Fisher J, Scharnhorst D, Curry CJ.
    Am J Med Genet; 2000 Dec 18; 95(5):444-9. PubMed ID: 11146464
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  • 13. Association of structural and numerical anomalies of chromosome 22 in a patient with syndromic intellectual disability.
    Naoufal R, Legendre M, Couet D, Gilbert-Dussardier B, Kitzis A, Bilan F, Harbuz R.
    Eur J Med Genet; 2016 Sep 18; 59(9):483-7. PubMed ID: 27452446
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  • 14. Clinical outcome and follow-up of the first reported case of Russell-Silver syndrome with the unique combination of maternal uniparental heterodisomy 7 and mosaic trisomy 7.
    Font-Montgomery E, Stone KM, Weaver DD, Vance GH, Das S, Thurston VC.
    Birth Defects Res A Clin Mol Teratol; 2005 Aug 18; 73(8):577-82. PubMed ID: 16007591
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  • 18. Mosaic trisomy 17 in amniocytes: phenotypic outcome, tissue distribution, and uniparental disomy studies.
    Genuardi M, Tozzi C, Pomponi MG, Stagni ML, Della Monica M, Scarano G, Calvieri F, Torrisi L, Neri G.
    Eur J Hum Genet; 1999 Aug 18; 7(4):421-6. PubMed ID: 10352932
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