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Journal Abstract Search

272 related items for PubMed ID: 4050866

  • 1. Trisomy 14 mosaicism with t(14;15)(q11;p11) in offspring of a balanced translocation carrier mother.
    Fujimoto A, Lin MS, Korula SR, Wilson MG.
    Am J Med Genet; 1985 Oct; 22(2):333-42. PubMed ID: 4050866
    [Abstract] [Full Text] [Related]

  • 2. Trisomy 14 mosaicism: case report and review.
    Johnson VP, Aceto T, Likness C.
    Am J Med Genet; 1979 Oct; 3(4):331-9. PubMed ID: 474633
    [Abstract] [Full Text] [Related]

  • 3. Mosaic 13 trisomy due to de novo 13/13 translocation with subsequent fission. Karyotype: 46,XX,-13, +t(13;13)(p11;q11)/46,XX,del(13)(p11). A second example.
    Fryns JP, Kleczkowska A, Jaeken J, Van Herck K, Van den Berghe MH.
    Ann Genet; 1989 Oct; 32(3):177-9. PubMed ID: 2486064
    [Abstract] [Full Text] [Related]

  • 4. Centromeric DNA break in a 10;16 reciprocal translocation associated with trisomy 16 confined placental mosaicism and maternal uniparental disomy for chromosome 16.
    Wang JC, Mamunes P, Kou SY, Schmidt J, Mao R, Hsu WT.
    Am J Med Genet; 1998 Dec 04; 80(4):418-22. PubMed ID: 9856575
    [Abstract] [Full Text] [Related]

  • 5. Inherited pericentric inversion of chromosome no. 2 with Robertsonian translocation (13q 14q) resulting in trisomy for chromosome 13q.
    Verma RS, Dosik H, Wexler IB.
    J Genet Hum; 1977 Dec 04; 25(4):295-301. PubMed ID: 599332
    [Abstract] [Full Text] [Related]

  • 6. An inherited translocation t(4;15) (p16;q22) leading to two cases of partial trisomy 15.
    Cohen MM, Ornoy A, Rosenmann A, Kohn G.
    Ann Genet; 1975 Jun 04; 18(2):99-103. PubMed ID: 1081372
    [Abstract] [Full Text] [Related]

  • 7. Natural history of mosaic trisomy 14 syndrome.
    Fujimoto A, Allanson J, Crowe CA, Lipson MH, Johnson VP.
    Am J Med Genet; 1992 Sep 15; 44(2):189-96. PubMed ID: 1456290
    [Abstract] [Full Text] [Related]

  • 8. Mosaic 13 trisomy due to de novo 13/13 translocation with subsequent fission. Karyotype: 46,XX, - 13, + t(13;13)(p11;q11)/46,XX,del(13)(p11).
    Fryns JP, Casaer P, Van den Berghe H.
    Hum Genet; 1979 Jan 25; 46(2):237-41. PubMed ID: 422207
    [Abstract] [Full Text] [Related]

  • 9. [Partial 14q trisomy. I. Partial 14q trisomy by maternal translocation t(10;14) (p15.2;q22)].
    Raoul O, Rethoré MO, Dutriliaux B, Michon L, Lejeune J.
    Ann Genet; 1975 Mar 25; 18(1):35-9. PubMed ID: 1080036
    [Abstract] [Full Text] [Related]

  • 10. Partial trisomy 18(q11 leads to qter) in an infant and aborted fetus resulting from a balanced paternal translocation t(13;18)(q32:q11).
    Rosenmann A, Isacson M, Cohen R, Segal M, Cohen MM.
    Ann Genet; 1978 Mar 25; 21(1):60-4. PubMed ID: 308346
    [Abstract] [Full Text] [Related]

  • 11. Skin pigment anomalies and mosaicism for a double autosomal trisomy (48,XX,+18,+20).
    Devriendt K, Matthijs G, Meireleire J, Roelen L, van Buggenhout G, Fryns JP.
    Genet Couns; 1998 Mar 25; 9(4):283-6. PubMed ID: 9894166
    [Abstract] [Full Text] [Related]

  • 12. [Trisomy of the distal 15q region due to familial balanced translocation t(15;16)(q24;p13) and unusual mosaicism in the mother of the proband].
    Nazarenko SA, Nazarenko LP, Baranova VA.
    Tsitol Genet; 1987 Mar 25; 21(6):434-7. PubMed ID: 3445362
    [Abstract] [Full Text] [Related]

  • 13. Trisomy for the short arm of chromosome 10. Report of a new case resulting from segregation of a maternal balanced translocation t(10qter----q11::14p11----qter).
    Delaroche I, Bruni L, Giannotti A, Giampaolo R, Aebischer ML.
    Helv Paediatr Acta; 1984 May 25; 39(2):161-6. PubMed ID: 6543839
    [Abstract] [Full Text] [Related]

  • 14. Mosaic rearrangement of chromosome 18: characterization by FISH mapping and DNA studies shows trisomy 18p and monosomy 18p both of paternal origin.
    Oner G, Jauch A, Eggermann T, Hardwick R, Kirsch S, Schiebel K, Rappold G, Robson L, Smith A.
    Am J Med Genet; 2000 May 15; 92(2):101-6. PubMed ID: 10797432
    [Abstract] [Full Text] [Related]

  • 15. [Mosaic 14 trisomy in a female child with multiple abnormalities].
    Rethoré MO, Couturier J, Carpentier S, Ferrand J, Lejeune J.
    Ann Genet; 1975 Mar 15; 18(1):71-4. PubMed ID: 1080041
    [Abstract] [Full Text] [Related]

  • 16. Trisomy 18/trisomy 13 mosaicism in an adult with profound mental retardation and multiple malformations.
    Wilson WG, Shires MA, Willson KA, Wyandt HE, Harris LM, Kelly TE.
    Am J Med Genet; 1983 Sep 15; 16(1):131-6. PubMed ID: 6638063
    [Abstract] [Full Text] [Related]

  • 17. Duplication 10p in a girl due to a maternal translocation t(10;14) (p11:p12).
    Gonzalez CH, Billerbeck AE, Takayama LC, Wajntal A.
    Am J Med Genet; 1983 Jan 15; 14(1):159-67. PubMed ID: 6829605
    [Abstract] [Full Text] [Related]

  • 18. X-inactivation pattern in three cases of X/autosome translocation.
    Zabel BU, Baumann WA, Pirntke W, Gerhard-Ratschow K.
    Am J Med Genet; 1978 Jan 15; 1(3):309-17. PubMed ID: 677170
    [Abstract] [Full Text] [Related]

  • 19. Trisomy 20pter = to q11 in a malformed boy from a t(13;20)(p11;q11) translocation-carrier mother.
    Schinzel A.
    Hum Genet; 1980 Feb 15; 53(2):169-72. PubMed ID: 7358383
    [Abstract] [Full Text] [Related]

  • 20. 46,X,i(Xq)/47,XX,+13 mosaicism.
    Igarashi M, Tsukahara M, Sugio Y, Katayama K, Kajii T.
    Ann Genet; 1985 Feb 15; 28(4):241-4. PubMed ID: 3879438
    [Abstract] [Full Text] [Related]

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