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Journal Abstract Search

142 related items for PubMed ID: 8533859

  • 1. Detection of a subtle rearrangement of chromosome 22 using molecular techniques.
    Biesecker LG, Rosenberg M, Dziadzio L, Ledbetter DH, Ning Y, Sarneso C, Rosenbaum K.
    Am J Med Genet; 1995 Sep 25; 58(4):389-94. PubMed ID: 8533859
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  • 3. A paternal balanced translocation [t(7;22)(q32;q13.3)] leading to reciprocal unbalanced karyotypes in two consecutive pregnancies.
    Zackowski JL, Raffel LJ, McDaniel LD, Schwartz S.
    Ann Genet; 1990 Sep 25; 33(2):113-6. PubMed ID: 2241085
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  • 4. 10p duplication characterized by fluorescence in situ hybridization.
    Wiktor A, Feldman GL, Kratkoczki P, Ditmars DM, Van Dyke DL.
    Am J Med Genet; 1994 Sep 01; 52(3):315-8. PubMed ID: 7528972
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  • 5. Trisomy of chromosome 16p13.3 due to an unbalanced insertional translocation into chromosome 22p13.
    de Ravel T, Aerssens P, Vermeesch JR, Fryns JP.
    Eur J Med Genet; 2005 Sep 01; 48(3):355-9. PubMed ID: 16179232
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  • 8. A complex chromosome rearrangement with at least five breakpoints studied by fluorescence in situ hybridization.
    Gibson LH, McGrath J, Yang-Feng TL.
    Am J Med Genet; 1997 Feb 11; 68(4):417-20. PubMed ID: 9021014
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  • 9. Scanning for telomeric deletions and duplications and uniparental disomy using genetic markers in 120 children with malformations.
    Rosenberg MJ, Killoran C, Dziadzio L, Chang S, Stone DL, Meck J, Aughton D, Bird LM, Bodurtha J, Cassidy SB, Graham JM, Grix A, Guttmacher AE, Hudgins L, Kozma C, Michaelis RC, Pauli R, Peters KF, Rosenbaum KN, Tifft CJ, Wargowski D, Williams MS, Biesecker LG.
    Hum Genet; 2001 Sep 11; 109(3):311-8. PubMed ID: 11702212
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  • 11. Trisomy 22 confirmed by fluorescent in situ hybridization.
    Stratton RF, DuPont BR, Mattern VL, Young RS, McCourt JW, Moore CM.
    Am J Med Genet; 1993 Apr 01; 46(1):109-12. PubMed ID: 8494030
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  • 15. "Pure" partial trisomy 3p due to the malsegregation of a balanced maternal translocation t (X;3) (p22.3;p21).
    de Almeida JC, Reis DF, Llerena JC, Pereira ET.
    Ann Genet; 1989 Apr 01; 32(3):181-3. PubMed ID: 2817779
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  • 17. A de novo subterminal trisomy 10p and monosomy 18q in a girl with MCA/MR: case report and review.
    Courtens W, Wuyts W, Scheers S, Van Luijk R, Reyniers E, Rooms L, Ceulemans B, Kooy F, Wauters J.
    Eur J Med Genet; 2006 Apr 01; 49(5):402-13. PubMed ID: 16488200
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  • 18. Subtelomeric chromosomal rearrangements detected in patients with idiopathic mental retardation and dysmorphic features.
    Caliskan MO, Karauzum SB, Mihci E, Tacoy S, Luleci G.
    Genet Couns; 2005 Apr 01; 16(2):129-38. PubMed ID: 16080292
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  • 19. Study of 30 patients with unexplained developmental delay and dysmorphic features or congenital abnormalities using conventional cytogenetics and multiplex FISH telomere (M-TEL) integrity assay.
    Popp S, Schulze B, Granzow M, Keller M, Holtgreve-Grez H, Schoell B, Brough M, Hager HD, Tariverdian G, Brown J, Kearney L, Jauch A.
    Hum Genet; 2002 Jul 01; 111(1):31-9. PubMed ID: 12136233
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  • 20. Submicroscopic terminal deletions and duplications in retarded patients with unclassified malformation syndromes.
    Riegel M, Baumer A, Jamar M, Delbecque K, Herens C, Verloes A, Schinzel A.
    Hum Genet; 2001 Sep 01; 109(3):286-94. PubMed ID: 11702209
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