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Journal Abstract Search

252 related items for PubMed ID: 11977164

  • 1. Duplication of chromosome region (16)(p11.2 --> p12.1) in a mother and daughter with mild mental retardation.
    Engelen JJ, de Die-Smulders CE, Dirckx R, Verhoeven WM, Tuinier S, Curfs LM, Hamers AJ.
    Am J Med Genet; 2002 Apr 22; 109(2):149-53. PubMed ID: 11977164
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  • 4. Characterization of a partial trisomy 16q with FISH. Report of a patient and review of the literature.
    Engelen JJ, De Die-Smulders CE, Vos PT, Meers LE, Albrechts JC, Hamers AJ.
    Ann Genet; 1999 Apr 22; 42(2):101-4. PubMed ID: 10434124
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  • 5. Report of a patient with a trisomy of chromosome region 20q11.2-->20q12 and characterization with FISH.
    Wanderley HY, Schrander-Stumpel CT, Visser MO, Van Maanen-Op Het Roodt EA, Loneus WH, Engelen JJ.
    Genet Couns; 2005 Apr 22; 16(3):277-82. PubMed ID: 16259325
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  • 7. Maternal balanced translocation (4;21) leading to an offspring with partial duplication of 4q and 21q without phenotypic manifestations of Down syndrome.
    El-Ruby M, Hemly NA, Zaki MS.
    Genet Couns; 2007 Apr 22; 18(2):217-26. PubMed ID: 17710874
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  • 8. Chromosome 10p11.2-p12.2 duplication: report of a patient and review of the literature.
    Mégarbané A, Gosset P, Souraty N, Lapierre JM, Korban R, Zahed L, Samaras L, Vekemans M, Prieur M.
    Am J Med Genet; 2001 Dec 01; 104(3):204-8. PubMed ID: 11754045
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  • 10. Prenatal detection of a de novo terminal inverted duplication 4p in a fetus with the Wolf-Hirschhorn syndrome phenotype.
    Beaujard MP, Jouannic JM, Bessières B, Borie C, Martin-Luis I, Fallet-Bianco C, Portnoï MF.
    Prenat Diagn; 2005 Jun 01; 25(6):451-5. PubMed ID: 15966060
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  • 13. First report of a partial trisomy 3q12-q23 de novo--FISH breakpoint determination and phenotypic characterization.
    Gamerdinger U, Bosse K, Eggermann T, Kalscheuer V, Schwanitz G, Engels H.
    Eur J Med Genet; 2006 Jun 01; 49(3):225-34. PubMed ID: 16762824
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  • 15. 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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  • 16. Proximal trisomy 13q and distal monosomy 8p in a dysmorphic and mentally retarded patient with an isodicentric chromosome 13q and a 13q/8p translocation chromosome.
    Lukusa T, van den Berghe L, Smeets E, Fryns JP.
    Ann Genet; 1999 Jan 02; 42(4):215-20. PubMed ID: 10674161
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  • 17. Spectral karyotyping and fluorescence in situ hybridization analysis of de novo partial trisomy 7p (7p21.2-->pter) and partial monosomy 12q (12q24.33-->qter).
    Chen CP, Lin SP, Lin CC, Li YC, Hsieh LJ, Huang JK, Lee CC, Wang W.
    Genet Couns; 2006 Jan 02; 17(1):57-63. PubMed ID: 16719278
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  • 18. De novo direct duplication 7p (p11.2-->pter) in an Arab child with MCA/MR syndrome: trisomy 7p a delineated syndrome?
    Redha MA, Krishna Murthy DS, al-Awadi SA, al-Sulaiman IS, Sabry MA, el-Bahey SA, Farag TI.
    Ann Genet; 1996 Jan 02; 39(1):5-9. PubMed ID: 9297445
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  • 19. Duplication of chromosome region 8p23.1-->p23.3: a benign variant?
    Engelen JJ, Moog U, Evers JL, Dassen H, Albrechts JC, Hamers AJ.
    Am J Med Genet; 2000 Mar 06; 91(1):18-21. PubMed ID: 10751083
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