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208 related items for PubMed ID: 1865477

  • 1. Interstitial deletion of the long arm of chromosome 18, del(18)(q12.2q21.1): a report of three cases of an autosomal deletion with a mild phenotype.
    Schinzel A, Binkert F, Lillington DM, Sands M, Stocks RJ, Lindenbaum RH, Matthews H, Sheridan H.
    J Med Genet; 1991 May; 28(5):352-5. PubMed ID: 1865477
    [Abstract] [Full Text] [Related]

  • 2. Interstitial deletion of the proximal region of the long arm of chromosome 18, del(18q12) a distinct clinical entity? A report of two new cases.
    Poissonnier M, Turleau C, Olivier-Martin M, Milleret-Proyart MJ, Prieur M, Dubos M, Cabanis MO, Mugneret F, Blanc P, Noel L.
    Ann Genet; 1992 May; 35(3):146-51. PubMed ID: 1466563
    [Abstract] [Full Text] [Related]

  • 3. Interstitial deletion of chromosome 18[del(18)(q11.2q12.2 or q12.2q21.1].
    Surh LC, Ledbetter DH, Greenberg F.
    Am J Med Genet; 1991 Oct 01; 41(1):15-7. PubMed ID: 1719812
    [Abstract] [Full Text] [Related]

  • 4. Delineation of a critical region on chromosome 18 for the del(18)(q12.2q21.1) syndrome.
    Buysse K, Menten B, Oostra A, Tavernier S, Mortier GR, Speleman F.
    Am J Med Genet A; 2008 May 15; 146A(10):1330-4. PubMed ID: 18412119
    [Abstract] [Full Text] [Related]

  • 5. Partial trisomy of chromosome 18 (pter----q12) following a familial 18;21 translocation rcp(18;21)(q12;q11).
    Binkert F, Stranzinger J, Schinzel A.
    Hum Hered; 1990 May 15; 40(2):81-4. PubMed ID: 2335369
    [Abstract] [Full Text] [Related]

  • 6. De novo interstitial deletion q16.2q21 on chromosome 6.
    Villa A, Urioste M, Bofarull JM, Martínez-Frías ML.
    Am J Med Genet; 1995 Jan 30; 55(3):379-83. PubMed ID: 7726240
    [Abstract] [Full Text] [Related]

  • 7. Long-term survival in a patient with del(18)(q12.2q21.1).
    Tinkle BT, Christianson CA, Schorry EK, Webb T, Hopkin RJ.
    Am J Med Genet A; 2003 May 15; 119A(1):66-70. PubMed ID: 12707962
    [Abstract] [Full Text] [Related]

  • 8. Terminal 6q25.3 deletion and abnormal behaviour.
    Lukusa T, Willekens D, Lukusa N, De Cock F, Fryns JP.
    Genet Couns; 2001 May 15; 12(3):213-21. PubMed ID: 11693783
    [Abstract] [Full Text] [Related]

  • 9. Piebaldism in a mentally retarded girl with rare deletion of the long arm of chromosome 4.
    Sijmons RH, Kristoffersson U, Tuerlings JH, Ljung R, Dijkhuis-Stoffelsma R, Breed AS.
    Pediatr Dermatol; 1993 Sep 15; 10(3):235-9. PubMed ID: 8415299
    [Abstract] [Full Text] [Related]

  • 10. De novo interstitial deletion 16(q12.1q13) of paternal origin in a 10-year-old boy.
    Schuffenhauer S, Callen DF, Seidel H, Shen Y, Lederer G, Murken J.
    Clin Genet; 1992 Nov 15; 42(5):246-50. PubMed ID: 1486702
    [Abstract] [Full Text] [Related]

  • 11. Del(18)(q12.2q21.1) syndrome: a case report and clinical review of the literature.
    Imataka G, Ohwada Y, Shimura N, Yoshihara S, Arisaka O.
    Eur Rev Med Pharmacol Sci; 2015 Sep 15; 19(17):3241-5. PubMed ID: 26400529
    [Abstract] [Full Text] [Related]

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  • 13. Interstitial deletion of the short arm of chromosome 4.
    Ray M, Evans J, Rockman-Greenberg C, Wickstrom D.
    J Med Genet; 1984 Jun 15; 21(3):223-5. PubMed ID: 6748021
    [Abstract] [Full Text] [Related]

  • 14. 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 15; 32(3):350-2. PubMed ID: 2729355
    [Abstract] [Full Text] [Related]

  • 15. De novo deletion of chromosome 2q24.2 region in a mentally retarded boy with muscular hypotonia.
    Magri C, Piovani G, Pilotta A, Michele T, Buzi F, Barlati S.
    Eur J Med Genet; 2011 Mar 15; 54(3):361-4. PubMed ID: 21211576
    [Abstract] [Full Text] [Related]

  • 16. Interstitial deletions of the short arm of chromosome 4 in a patient with mental retardation and focal seizure.
    Su PH, Lee IC, Chen JY, Chen SJ, Yu JS, Tsao TF.
    Pediatr Neonatol; 2011 Jun 15; 52(3):165-8. PubMed ID: 21703560
    [Abstract] [Full Text] [Related]

  • 17. Interstitial deletion of the long arm of chromosome no. 5 in two unrelated children with congenital anomalies and mental retardation.
    Silengo MC, Luzzatti L, Centerwall WR, Costello JM, Parslow M.
    Clin Genet; 1981 Mar 15; 19(3):174-80. PubMed ID: 7273460
    [Abstract] [Full Text] [Related]

  • 18. 46, XY, del (3) (pter-->p25) syndrome: further delineation of the clinical phenotype.
    Benini D, Vino L, Vecchini S, Fanos V.
    Eur J Pediatr; 1999 Dec 15; 158(12):955-7. PubMed ID: 10592068
    [Abstract] [Full Text] [Related]

  • 19. Additional case of de novo interstitial deletion del(17)(q21.3q23) and expansion of the phenotype.
    Khalifa MM, MacLeod PM, Duncan AM.
    Clin Genet; 1993 Nov 15; 44(5):258-61. PubMed ID: 7906212
    [Abstract] [Full Text] [Related]

  • 20. Del(18)(q12.2q21.1) caused by a paternal sister chromatid rearrangement in a developmentally delayed girl.
    Kotzot D, Haberlandt E, Fauth C, Baumgartner S, Scholl-Bürgi S, Utermann G.
    Am J Med Genet A; 2005 Jun 15; 135(3):304-7. PubMed ID: 15887269
    [Abstract] [Full Text] [Related]

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