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Journal Abstract Search

275 related items for PubMed ID: 8985487

  • 1. Familial ring (19) chromosome mosaicism: case report and review.
    Flejter WL, Finlinson D, Root S, Nguyen W, Brothman AR, Viskochil D.
    Am J Med Genet; 1996 Dec 18; 66(3):276-80. PubMed ID: 8985487
    [Abstract] [Full Text] [Related]

  • 2. Transmission of ring chromosome 18 46,XX/46,XX,r(18) mosaicism in a mother and ring chromosome 18 syndrome in her son.
    Fryns JP, Kleczkowska A, Smeets E, Van Den Berghe H.
    Ann Genet; 1992 Dec 18; 35(2):121-3. PubMed ID: 1524410
    [Abstract] [Full Text] [Related]

  • 3. Molecular and cytogenetic characterisation of an unusual case of partial trisomy/partial monosomy 13 mosaicism: 46,XX,r(13)(p11q14)/46,XX,der(13)t(13;13)(q10;q14).
    Gentile M, Buonadonna AL, Cariola F, Fiorente P, Valenzano MC, Guanti G.
    J Med Genet; 1999 Jan 18; 36(1):77-82. PubMed ID: 9950374
    [Abstract] [Full Text] [Related]

  • 4. Ring chromosome 21 and reproductive pattern: a familial case and review of the literature.
    Bertini V, Valetto A, Uccelli A, Tarantino E, Simi P.
    Fertil Steril; 2008 Nov 18; 90(5):2004.e1-5. PubMed ID: 18371955
    [Abstract] [Full Text] [Related]

  • 5. Unbalanced translocation, t(18;21), detected by fluorescence in situ hybridization (FISH) in a child with 18q- syndrome and a ring chromosome 21.
    McGinniss MJ, Rosenberg C, Stetten G, Schinzel AA, Binkert F, Petersen MB, Kearns WG, Kazazian HH, Pearson PL, Antonarakis SE.
    Am J Med Genet; 1993 Jul 01; 46(6):647-51. PubMed ID: 8362906
    [Abstract] [Full Text] [Related]

  • 6. Clinical and molecular cytogenetic studies in a case with partial trisomy 12p due to a de novo supernumerary ring chromosome.
    Ausems MG, Schuil J, Van Raveswaaij-Arts C, De Pater JM.
    Genet Couns; 2004 Jul 01; 15(4):405-10. PubMed ID: 15658615
    [Abstract] [Full Text] [Related]

  • 7. Identification of marker chromosomes in thirteen patients using FISH probing.
    Daniel A, Malafiej P, Preece K, Chia N, Nelson J, Smith M.
    Am J Med Genet; 1994 Oct 15; 53(1):8-18. PubMed ID: 7802042
    [Abstract] [Full Text] [Related]

  • 8. Characterization of a de novo 48,XX,+r(X),+r(17) by in situ hybridization in a patient with neurofibromatosis (NF1).
    Wiktor A, Van Dyke DL, Weiss L.
    Am J Med Genet; 1993 Jan 01; 45(1):22-4. PubMed ID: 8418653
    [Abstract] [Full Text] [Related]

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  • 10. An atypical Turner syndrome patient with ring X chromosome mosaicism.
    Cantú ES, Jacobs DF, Pai GS.
    Ann Clin Lab Sci; 1995 Jan 01; 25(1):60-5. PubMed ID: 7762970
    [Abstract] [Full Text] [Related]

  • 11. Mosaic r(13) resulting in large deletion of chromosome 13q in a newborn female with multiple congenital anomalies.
    Lorentz CP, Jalal SM, Thompson DM, Babovic-Vuksanovic D.
    Am J Med Genet; 2002 Jul 22; 111(1):61-7. PubMed ID: 12124737
    [Abstract] [Full Text] [Related]

  • 12. Mental retardation and Ullrich-Turner syndrome in cases with 45,X/46X,+mar: additional support for the loss of the X-inactivation center hypothesis.
    Cole H, Huang B, Salbert BA, Brown J, Howard-Peebles PN, Black SH, Dorfmann A, Febles OR, Stevens CA, Jackson-Cook C.
    Am J Med Genet; 1994 Aug 15; 52(2):136-45. PubMed ID: 7801998
    [Abstract] [Full Text] [Related]

  • 13. 46,XX/46,XX,r (2)(p25q37) mosaicism: clinical and cytogenetic studies.
    Sutherland GR, Carter RF.
    Ann Genet; 1978 Sep 15; 21(3):164-7. PubMed ID: 315192
    [Abstract] [Full Text] [Related]

  • 14. Use of chromosome painting for marker chromosome identification in two children with congenital disorders.
    Doco-Fenzy M, Navrocki B, Cornillet P, Sabouraud P, Robillard P, Gruson N, Gaillard D, Adnet JJ.
    Bull Assoc Anat (Nancy); 1994 Jun 15; 78(241):9-13. PubMed ID: 8086666
    [Abstract] [Full Text] [Related]

  • 15. Ring chromosome 6: case report and review.
    Nishi Y, Yoshimura O, Ohama K, Usui T.
    Am J Med Genet; 1982 May 15; 12(1):109-14. PubMed ID: 7091194
    [Abstract] [Full Text] [Related]

  • 16. Ring chromosome 6: clinical and cytogenetic behaviour.
    Paz-y-Miño C, Benítez J, Ayuso C, Sánchez-Cascos A.
    Am J Med Genet; 1990 Apr 15; 35(4):481-3. PubMed ID: 2333874
    [Abstract] [Full Text] [Related]

  • 17. Paternal meiotic origin of der(21;21)(q10;q10) mosaicism [46,XX/46, XX,der(21;21)(q10;q10),+21] in a girl with mild Down syndrome.
    Kotzot D, Schinzel A.
    Eur J Hum Genet; 2000 Sep 15; 8(9):709-12. PubMed ID: 10980577
    [Abstract] [Full Text] [Related]

  • 18. Mosaicism with a normal cell line and an unbalanced structural rearrangement.
    Zaslav AL, Fallet S, Blumenthal D, Jacob J, Fox J.
    Am J Med Genet; 1999 Jan 01; 82(1):15-9. PubMed ID: 9916836
    [Abstract] [Full Text] [Related]

  • 19. Identification of a "cryptic mosaicism" involving at least four different small supernumerary marker chromosomes derived from chromosome 9 in a woman without reproductive success.
    Santos M, Mrasek K, Rigola MA, Starke H, Liehr T, Fuster C.
    Fertil Steril; 2007 Oct 01; 88(4):969.e11-7. PubMed ID: 17451694
    [Abstract] [Full Text] [Related]

  • 20. Transmission of a ring chromosome 18 from a mother with 46,XX/47,XX, + r(18) mosaicism to her daughter, resulting in a 46,XX,r(18) karyotype.
    Jenderny J, Caliebe A, Beyer C, Grote W.
    J Med Genet; 1993 Nov 01; 30(11):964-5. PubMed ID: 8301656
    [Abstract] [Full Text] [Related]

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