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Journal Abstract Search

173 related items for PubMed ID: 15633165

  • 1. 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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  • 4. Pure direct duplication (12)(q24.1-->q24.2) in a child with Marcus Gunn phenomenon and multiple congenital anomalies.
    Doco-Fenzy M, Mauran P, Lebrun JM, Bock S, Bednarek N, Struski S, Albuisson J, Ardalan A, Collot N, Schneider A, Dastot-Le Moal F, Gaillard D, Goossens M.
    Am J Med Genet A; 2006 Feb 01; 140(3):212-21. PubMed ID: 16411218
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  • 6. Mosaicism for a dup(12)(q22q13) in a patient with hypomelanosis of Ito and asymmetry.
    Schmidt H, Uhrig S, Lederer G, Murken J, Speicher MR, Schuffenhauer S.
    J Med Genet; 2000 Oct 01; 37(10):804-7. PubMed ID: 11183189
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  • 7. Partial trisomy of the short arm of chromosome 18 due to inversion duplication and direct duplication.
    Moog U, Engelen JJ, de Die-Smulders CE, Albrechts JC, Loneus WH, Haagen AA, Raven EJ, Hamers AJ.
    Clin Genet; 1994 Dec 01; 46(6):423-9. PubMed ID: 7889659
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  • 9. Molecular cytogenetic analysis of a constitutional de novo interstitial deletion of chromosome 12p in a boy with developmental delay and congenital anomalies.
    Gläser B, Rossier E, Barbi G, Chiaie LD, Blank C, Vogel W, Kehrer-Sawatzki H.
    Am J Med Genet A; 2003 Jan 01; 116A(1):66-70. PubMed ID: 12476454
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  • 13. De novo trisomy 16p.
    Carrasco Juan JL, Cigudosa JC, Otero Gómez A, Acosta Almeida MT, García Miranda JL.
    Am J Med Genet; 1997 Jan 20; 68(2):219-21. PubMed ID: 9028462
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  • 14. Analphoid de novo marker chromosome inv dup(3)(q28qter) with neocentromere in a dysmorphic and developmentally retarded girl.
    Barbi G, Spaich C, Adolph S, Kehrer-Sawatzki H.
    J Med Genet; 2003 Mar 20; 40(3):e27. PubMed ID: 12624156
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  • 16. Terminal tandem duplication of 16p: a case with "pure" partial trisomy (16)(pter-->p13).
    Tschernigg M, Petek E, Leonhardtsberger A, Wagner K, Kroisel PM.
    Genet Couns; 2002 Mar 20; 13(3):303-7. PubMed ID: 12416638
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  • 17. Karyotype/phenotype correlations in duplication 4q: evidence for a critical region within 4q27-28 for preaxial defects.
    Battaglia A, Chen Z, Brothman AR, Morelli S, Palumbos JC, Carey JC, Hudgins L, Disteche C.
    Am J Med Genet A; 2005 Apr 30; 134(3):334-7. PubMed ID: 15759263
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  • 19. Identification and molecular confirmation of a small chromosome 10q duplication [dir dup(10)(q24.2-->q24.3)] inherited from a mother mosaic for the abnormality.
    Tonk V, Schneider NR, Delgado MR, Mao J, Schultz RA.
    Am J Med Genet; 1996 Jan 02; 61(1):16-20. PubMed ID: 8741911
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