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Journal Abstract Search

333 related items for PubMed ID: 11183189

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  • 2. Maternal uniparental isodisomy 11q13qter in a dysmorphic and mentally retarded female with partial trisomy mosaicism 11q13qter.
    Kotzot D, Röthlisberger B, Riegel M, Schinzel A.
    J Med Genet; 2001 Dec; 38(12):876-81. PubMed ID: 11768394
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  • 5. Unexpected high frequency of de novo unbalanced translocations in patients with Wolf-Hirschhorn syndrome (WHS).
    Wieczorek D, Krause M, Majewski F, Albrecht B, Meinecke P, Riess O, Gillessen-Kaesbach G.
    J Med Genet; 2000 Oct; 37(10):798-804. PubMed ID: 11183188
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  • 6. Hypomelanosis of ito and a 'mirror image' whole chromosome duplication resulting in trisomy 14 mosaicism.
    Tunca Y, Wilroy RS, Kadandale JS, Martens PR, Gunther WM, Tharapel AT.
    Ann Genet; 2000 Oct; 43(1):39-43. PubMed ID: 10818220
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  • 7. Supernumerary marker chromosome (1) of paternal origin and maternal uniparental disomy 1 in a developmentally delayed child.
    Röthlisberger B, Zerova T, Kotzot D, Buzhievskaya TI, Balmer D, Schinzel A.
    J Med Genet; 2001 Dec; 38(12):885-8. PubMed ID: 11768396
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  • 10. A patient with duplication (7)(p22.1pter) characterized by array-CGH.
    Zahed L, Pramparo T, Farra C, Mikati M, Zuffardi O.
    Am J Med Genet A; 2007 Jan 15; 143A(2):168-71. PubMed ID: 17163527
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  • 14. Autistic disorder and chromosomal mosaicism 46,XY[123]/46,XY,del(20)(pter --> p12.2)[10].
    Sauter S, von Beust G, Burfeind P, Weise A, Starke H, Liehr T, Zoll B.
    Am J Med Genet A; 2003 Aug 01; 120A(4):533-6. PubMed ID: 12884434
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  • 15. De novo duplication of the short arm of chromosome 12: dup(12)(p13.1p13.3).
    Tsai AC, Digiovanni M, Walton C, Cotter PD.
    Am J Med Genet A; 2005 Apr 15; 134A(2):229-30. PubMed ID: 15633165
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