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383 related items for PubMed ID: 2729354

  • 1. Duplication of distal 22q.
    Abeliovich D, Maor E, Bashan N, Carmi R.
    Am J Med Genet; 1989 Mar; 32(3):346-9. PubMed ID: 2729354
    [Abstract] [Full Text] [Related]

  • 2. Interstitial duplication of proximal 22q: phenotypic overlap with cat eye syndrome.
    Knoll JH, Asamoah A, Pletcher BA, Wagstaff J.
    Am J Med Genet; 1995 Jan 16; 55(2):221-4. PubMed ID: 7717422
    [Abstract] [Full Text] [Related]

  • 3. [Trisomy 5p: a report of 2 cases].
    Alvarez-Coca J, García-Alix A, Delicado A, González M, Escribá R, López Pajares I, Morena V, Peralta A.
    An Esp Pediatr; 1985 Mar 31; 22(4):288-92. PubMed ID: 4003955
    [Abstract] [Full Text] [Related]

  • 4. Duplication 16q12----qter arising from 3:1 segregation in a 46,XX,t(13;16) (q12;q12) mother.
    Pérez-Castillo A, Martin-Lucas MA, Abrisqueta JA.
    Ann Genet; 1990 Mar 31; 33(2):121-3. PubMed ID: 2241087
    [Abstract] [Full Text] [Related]

  • 5. Molecular and cytogenetic characterization of 9p- abnormalities.
    Teebi AS, Gibson L, McGrath J, Meyn MS, Breg WR, Yang-Feng TL.
    Am J Med Genet; 1993 May 15; 46(3):288-92. PubMed ID: 8488873
    [Abstract] [Full Text] [Related]

  • 6. A case of de novo translocation 7; 10 and the duplication 7p, deletion 10p phenotype.
    Park JP, McDermet MK, Moeschler JB, Wurster-Hill DH.
    Ann Genet; 1993 May 15; 36(4):217-20. PubMed ID: 8166428
    [Abstract] [Full Text] [Related]

  • 7. Cryptic duplication of the distal segment of 22q due to a translocation (21;22): three case reports and a review of the literature.
    Feenstra I, Koolen DA, Van der Pas J, Hamel BC, Mieloo H, Smeets DF, Van Ravenswaaij CM.
    Eur J Med Genet; 2006 May 15; 49(5):384-95. PubMed ID: 16503209
    [Abstract] [Full Text] [Related]

  • 8. [A new case of trisomy 5p].
    Antonenko VG, Levina LIa, Chudnova VI.
    Genetika; 1985 Dec 15; 21(12):2066-70. PubMed ID: 4085794
    [Abstract] [Full Text] [Related]

  • 9. Partial duplication of the short arm of chromosome 2 (dup(2)(p13----p21) associated with mental retardation and an Aarskog-like phenotype.
    Fryns JP, Kleczkowska A, Kenis H, Decock P, Van den Berghe H.
    Ann Genet; 1989 Dec 15; 32(3):174-6. PubMed ID: 2573314
    [Abstract] [Full Text] [Related]

  • 10. Partial duplication 1q: report of four patients and review of the literature.
    Rasmussen SA, Frias JL, Lafer CZ, Eunpu DL, Zackai EH.
    Am J Med Genet; 1990 Jun 15; 36(2):137-43. PubMed ID: 2368800
    [Abstract] [Full Text] [Related]

  • 11. Dup(3)(p2----pter) in two families, including one infant with cyclopia.
    Gimelli G, Cuoco C, Lituania M, Cordone M, Aricò M, Bianchi E, Maraschio P, Zuffardi O.
    Am J Med Genet; 1985 Feb 15; 20(2):341-8. PubMed ID: 3919583
    [Abstract] [Full Text] [Related]

  • 12. Duplication 10q confirmed by DNA in situ hybridization.
    Johnson VP, Sutliff WC.
    Am J Med Genet; 1994 Aug 15; 52(2):184-7. PubMed ID: 7802006
    [Abstract] [Full Text] [Related]

  • 13. Translocation/duplication of 9p onto a duplicated 4q.
    Rivera H, Figuera LE, Vasquez AI.
    Genet Couns; 1992 Aug 15; 3(4):201-3. PubMed ID: 1472355
    [Abstract] [Full Text] [Related]

  • 14. Origin of a paternal (13q;15q) translocation leading to dup(13q) in two half sibs.
    De los Cobos LF.
    Am J Med Genet; 1983 Apr 15; 14(4):617-23. PubMed ID: 6846396
    [Abstract] [Full Text] [Related]

  • 15. De novo translocation involving chromosomes 1 and 4 resulting in partial duplication of 4q and partial deletion of 1p.
    Legare JM, Sekhon GS, Laxova R.
    Am J Med Genet; 1994 Nov 15; 53(3):216-21. PubMed ID: 7856655
    [Abstract] [Full Text] [Related]

  • 16. Multiple congenital anomalies due to partial 2p13----2pter duplication resulting from an unbalanced X;2 translocation.
    Sarda P, Lefort G, Devaux P, Humeau C, Rieu D.
    Ann Genet; 1992 Nov 15; 35(2):117-20. PubMed ID: 1524409
    [Abstract] [Full Text] [Related]

  • 17. Deletion 9p, duplication 18q in two sisters resulting from a maternal (9;18) (p22;q21.3) translocation.
    Tayel SM, Kurczynski TW, Casperson S, McCorquodale MM.
    Am J Med Genet; 1988 Dec 15; 31(4):853-61. PubMed ID: 3239578
    [Abstract] [Full Text] [Related]

  • 18. Two sibs with different phenotypes due to adjacent-1 segregation of a subtle translocation t(4;5)(p16.3;p15.3)mat.
    Qumsiyeh MB, Stevens CA.
    Am J Med Genet; 1993 Sep 01; 47(3):387-91. PubMed ID: 8135287
    [Abstract] [Full Text] [Related]

  • 19. Greig syndrome in a large kindred due to reciprocal chromosome translocation t(6;7)(q27;p13).
    Krüger G, Götz J, Kvist U, Dunker H, Erfurth F, Pelz L, Zech L.
    Am J Med Genet; 1989 Mar 01; 32(3):411-6. PubMed ID: 2729360
    [Abstract] [Full Text] [Related]

  • 20. First clinical case of small de novo duplication of 19q (13.3-13.4) confirmed by FISH.
    Bhat M, Morrison PJ, Getty A, McManus D, Tubman R, Nevin NC.
    Am J Med Genet; 2000 Mar 20; 91(3):201-3. PubMed ID: 10756343
    [Abstract] [Full Text] [Related]

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