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Journal Abstract Search

391 related items for PubMed ID: 2260590

  • 1. A child with multiple congenital anomalies and karyotype 46,XY,del(14)(q31q32.3): further delineation of chromosome 14 interstitial deletion syndrome.
    Gorski JL, Uhlmann WR, Glover TW.
    Am J Med Genet; 1990 Dec; 37(4):471-4. PubMed ID: 2260590
    [Abstract] [Full Text] [Related]

  • 2. Two patients with chromosome 6q terminal deletions with breakpoints at q24.3 and q25.3.
    Meng J, Fujita H, Nagahara N, Kashiwai A, Yoshioka Y, Funato M.
    Am J Med Genet; 1992 Jul 01; 43(4):747-50. PubMed ID: 1621768
    [Abstract] [Full Text] [Related]

  • 3. Subtle overlapping deletions in the terminal region of chromosome 6q24.2-q26: three cases studied using FISH.
    Sukumar S, Wang S, Hoang K, Vanchiere CM, England K, Fick R, Pagon B, Reddy KS.
    Am J Med Genet; 1999 Nov 05; 87(1):17-22. PubMed ID: 10528241
    [Abstract] [Full Text] [Related]

  • 4. Interstitial and terminal deletions of the long arm of chromosome 4: further delineation of phenotypes.
    Lin AE, Garver KL, Diggans G, Clemens M, Wenger SL, Steele MW, Jones MC, Israel J.
    Am J Med Genet; 1988 Nov 05; 31(3):533-48. PubMed ID: 3067575
    [Abstract] [Full Text] [Related]

  • 5. Terminal deletion of the long arm of chromosome 2 in a mildly dysmorphic hypotonic infant with karyotype 46,XY,del(2)(q37).
    Gorski JL, Cox BA, Kyine M, Uhlmann W, Glover TW.
    Am J Med Genet; 1989 Mar 05; 32(3):350-2. PubMed ID: 2729355
    [Abstract] [Full Text] [Related]

  • 6. Interstitial deletion of the short arm of chromosome 1 (46XY, del(1)(p13p22.3)).
    Mattia FR, Wardinsky TD, Tuttle DJ, Grix A, Smith KA, Walling P.
    Am J Med Genet; 1992 Nov 15; 44(5):551-4. PubMed ID: 1481806
    [Abstract] [Full Text] [Related]

  • 7. Multiple congenital anomalies/mental retardation (MCA/MR) syndrome due to interstitial deletion 1q.
    Steinbach P, Wolf M, Schmidt H.
    Am J Med Genet; 1984 Sep 15; 19(1):131-6. PubMed ID: 6496565
    [Abstract] [Full Text] [Related]

  • 8. De novo proximal interstitial deletions of 14q: cytogenetic and molecular investigations.
    Shapira SK, Anderson KL, Orr-Urtregar A, Craigen WJ, Lupski JR, Shaffer LG.
    Am J Med Genet; 1994 Aug 01; 52(1):44-50. PubMed ID: 7977460
    [Abstract] [Full Text] [Related]

  • 9. Further delineation of the chromosome 14q terminal deletion syndrome.
    van Karnebeek CD, Quik S, Sluijter S, Hulsbeek MM, Hoovers JM, Hennekam RC.
    Am J Med Genet; 2002 Jun 01; 110(1):65-72. PubMed ID: 12116274
    [Abstract] [Full Text] [Related]

  • 10. A specific syndrome due to deletion of the distal long arm of chromosome 1.
    Meinecke P, Vögtel D.
    Am J Med Genet; 1987 Oct 01; 28(2):371-6. PubMed ID: 3322005
    [Abstract] [Full Text] [Related]

  • 11. Terminal deletion of chromosome 10q26: delineation of two clinical phenotypes.
    Petit P, Devriendt K, Azou M, Gewillig M, Fryns JP.
    Genet Couns; 1998 Oct 01; 9(4):271-5. PubMed ID: 9894164
    [Abstract] [Full Text] [Related]

  • 12. A case of interstitial 1q deletion [46,XY,del(q25q32.1)].
    Hamano S, Fukushima Y, Yamada T, Shimizu H, Okuyama M, Ito F, Maekawa K.
    Ann Genet; 1987 Oct 01; 30(2):105-8. PubMed ID: 3314663
    [Abstract] [Full Text] [Related]

  • 13. Interstitial deletions of the short arm of chromosome 4 in patients with a similar combination of multiple minor anomalies and mental retardation.
    White DM, Pillers DA, Reiss JA, Brown MG, Magenis RE.
    Am J Med Genet; 1995 Jul 17; 57(4):588-97. PubMed ID: 7573135
    [Abstract] [Full Text] [Related]

  • 14. De novo reciprocal 1p;2q translocation in a child with multiple congenital anomalies/mental retardation syndrome.
    Chitayat D, Fagerstrom CL, Kalousek DK, Rootman J, Taylor GP, Hall JG.
    Am J Med Genet; 1989 Jan 17; 32(1):36-41. PubMed ID: 2495721
    [Abstract] [Full Text] [Related]

  • 15. Syndrome of proximal interstitial deletion 4p15: report of three cases and review of the literature.
    Chitayat D, Ruvalcaba RH, Babul R, Teshima IE, Posnick JC, Vekemans MJ, Scarpelli H, Thuline H.
    Am J Med Genet; 1995 Jan 16; 55(2):147-54. PubMed ID: 7717413
    [Abstract] [Full Text] [Related]

  • 16. Unique de novo interstitial deletion of chromosome 17, del(17) (q23.2q24.3) in a female newborn with multiple congenital anomalies.
    Levin ML, Shaffer LG, Lewis RAp6, Gresik MV, Lupski JR.
    Am J Med Genet; 1995 Jan 02; 55(1):30-2. PubMed ID: 7702093
    [Abstract] [Full Text] [Related]

  • 17. [Del(1)(q22-q25) syndrome. Cytogenetics and phenotype].
    Zaletaev DV, Dadali EL, Kuleshov NP.
    Tsitol Genet; 1987 Jan 02; 21(3):213-6. PubMed ID: 3617217
    [Abstract] [Full Text] [Related]

  • 18. A patient with an interstitial deletion of the proximal portion of the long arm of chromosome 4.
    Beall MH, Falk RE, Ying KL.
    Am J Med Genet; 1988 Nov 02; 31(3):553-7. PubMed ID: 3067576
    [Abstract] [Full Text] [Related]

  • 19. Another patient with a deletion 14q11.2q13.
    Govaerts L, Toorman J, Blij-Philipsen MV, Smeets D.
    Ann Genet; 1996 Nov 02; 39(4):197-200. PubMed ID: 9037346
    [Abstract] [Full Text] [Related]

  • 20. Report of two cases of distal deletion of the long arm of chromosome 6.
    Stevens CA, Fineman RM, Breg WR, Silken AB.
    Am J Med Genet; 1988 Apr 02; 29(4):807-14. PubMed ID: 3400725
    [Abstract] [Full Text] [Related]

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