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PUBMED FOR HANDHELDS

Journal Abstract Search


202 related items for PubMed ID: 1200027

  • 1. Chromosome 3 duplication q21 leads to qter deletion p25 leads to pter syndrome in children of carriers of a pericentric inversion inv(3) (p25q21).
    Allderdice PW, Browne N, Murphy DP.
    Am J Hum Genet; 1975 Nov; 27(6):699-718. PubMed ID: 1200027
    [Abstract] [Full Text] [Related]

  • 2. Duplication of region 2q31 leads to 2qter in a family with 2/9 translocation.
    Howard-Peebles PN, Goldsmith JP.
    Hum Hered; 1980 Nov; 30(2):84-8. PubMed ID: 7358400
    [Abstract] [Full Text] [Related]

  • 3. A large kindred with an INV(3)(p25q23): clinical, cytogenetic and genetic marker studies.
    Sutherland GR, Mulley JC, Goldblatt E.
    Ann Genet; 1981 Nov; 24(4):202-5. PubMed ID: 6977298
    [Abstract] [Full Text] [Related]

  • 4. The dup(3q) syndrome: report of eight cases and review of the literature.
    Steinbach P, Adkins WN, Caspar H, Dumars KW, Gebauer J, Gilbert EF, Grimm T, Habedank M, Hansmann I, Herrmann J, Kaveggia EG, Langenbeck U, Meisner LF, Najafzadeh TM, Opitz JM, Palmer CG, Peters HH, Scholz W, Tavares AS, Wiedeking C.
    Am J Med Genet; 1981 Nov; 10(2):159-77. PubMed ID: 7315873
    [Abstract] [Full Text] [Related]

  • 5. A case of chromosome 3 duplication q deletion p syndrome born to the mother with a pericentric inversion, inv(3)(p25q21).
    Kawashima H, Maruyama S.
    Jinrui Idengaku Zasshi; 1979 Mar; 24(1):9-12. PubMed ID: 459148
    [No Abstract] [Full Text] [Related]

  • 6. A girl with inverted triplication of chromosome 3q25.3 --> q29 and multiple congenital anomalies consistent with 3q duplication syndrome.
    Ounap K, Ilus T, Bartsch O.
    Am J Med Genet A; 2005 May 01; 134(4):434-8. PubMed ID: 15793836
    [Abstract] [Full Text] [Related]

  • 7. [A case of 3q21-qter trisomy and 3p25-pter monosomy syndrome].
    Migliori V, Ferrari F, Giamagli CA, DI Stefano P, Galanti E, Guastaferro N.
    Pediatr Med Chir; 1983 May 01; 5(4):237-39. PubMed ID: 6647087
    [Abstract] [Full Text] [Related]

  • 8. Duplication of the segment q12.2 leads to qter of chromosome 22 due to paternal inversion 22(p13q12.2).
    Fujimoto A, Wilson MG, Towner JW.
    Hum Genet; 1983 May 01; 63(1):82-4. PubMed ID: 6832783
    [Abstract] [Full Text] [Related]

  • 9. Pre- and postnatal findings in a patient with a recombinant chromosome rec(8)(qter→q21.11::p23.3→qter) due to a paternal pericentric inversion inv(8)(p23.3q21.11) and review of the literature.
    Habhab W, Mau-Holzmann U, Singer S, Rieß A, Kagan KO, Gerbig I, Schäferhoff K, Dufke A, Kehrer M.
    Am J Med Genet A; 2020 Nov 01; 182(11):2680-2684. PubMed ID: 32803851
    [Abstract] [Full Text] [Related]

  • 10. Molecular cytogenetic characterization of Xp22.32→pter deletion and Xq26.3→qter duplication in a male fetus associated with 46,Y,rec(X)dup(Xq) inv(X)(p22.3q26.3), a hypoplastic left heart, short stature, and maternal X chromosome pericentric inversion.
    Chen CP, Chen CY, Chern SR, Wu PS, Chen YN, Chen SW, Lee CC, Town DD, Lee MS, Yang CW, Wang W.
    Taiwan J Obstet Gynecol; 2016 Oct 01; 55(5):705-711. PubMed ID: 27751420
    [Abstract] [Full Text] [Related]

  • 11. Phenotype of partial trisomy 8 (p21 leads to qter) in two unrelated patients with de novo translocation.
    Sachs ES, van Waveren G.
    J Med Genet; 1981 Jun 01; 18(3):204-8. PubMed ID: 7241543
    [Abstract] [Full Text] [Related]

  • 12. Duplication 3q: severe manifestations in an infant with duplication of a short segment of 3q.
    Rosenfeld W, Verma RS, Jhaveri RC, Estrada R, Evans H, Dosik H.
    Am J Med Genet; 1981 Jun 01; 10(2):187-92. PubMed ID: 7315875
    [Abstract] [Full Text] [Related]

  • 13. Delineation of a characteristic phenotype in distal trisomy 2q.
    Kyllerman M, Wahlström J, Westerberg B, Gustavson KH.
    Helv Paediatr Acta; 1984 Dec 01; 39(5-6):499-508. PubMed ID: 6543860
    [Abstract] [Full Text] [Related]

  • 14. Partial 18q trisomy and 18p monosomy resulting from a maternal pericentric inversion, inv(18)(p11.2q21.3).
    Asano T, Ikeuchi T, Shinohara T, Enokido H, Hashimoto K.
    Jinrui Idengaku Zasshi; 1991 Sep 01; 36(3):257-65. PubMed ID: 1753439
    [Abstract] [Full Text] [Related]

  • 15. Precise mapping of a de novo duplication 18(q21-->q22) utilizing cytogenetic, biochemical, and molecular techniques.
    Wolff DJ, Schwartz MF, Cohen MM, Schwartz S.
    Am J Med Genet; 1993 Jun 15; 46(5):520-3. PubMed ID: 8322813
    [Abstract] [Full Text] [Related]

  • 16. A familial pericentric inversion of chromosome 22 with a recombinant subject illustrating a 'pure' partial monosomy syndrome.
    Watt JL, Olson IA, Johnston AW, Ross HS, Couzin DA, Stephen GS.
    J Med Genet; 1985 Aug 15; 22(4):283-7. PubMed ID: 4045954
    [Abstract] [Full Text] [Related]

  • 17. Monosomy 9p24-->pter and trisomy 5q31-->qter: case report and review of two cases.
    Schimmenti LA, Higgins RR, Mendelsohn NJ, Casey TM, Steinberger J, Mammel MC, Wiesner GL.
    Am J Med Genet; 1995 May 22; 57(1):52-6. PubMed ID: 7645598
    [Abstract] [Full Text] [Related]

  • 18. Application of fluorescence in situ hybridization for early prenatal diagnosis of partial trisomy 6p/monosomy 6q due to a familial pericentric inversion.
    Wauters JG, Bossuyt PJ, Roelen L, van Roy B, Dumon J.
    Clin Genet; 1993 Nov 22; 44(5):262-9. PubMed ID: 8313624
    [Abstract] [Full Text] [Related]

  • 19. 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 22; 25(4):295-301. PubMed ID: 599332
    [Abstract] [Full Text] [Related]

  • 20. Partial deletion of 18p and partial duplication of 18q caused by a paternal pericentric inversion.
    Israëls T, Hoovers J, Turpijn HM, Wijburg FA, Hennekam RC.
    Clin Genet; 1996 Dec 22; 50(6):520-4. PubMed ID: 9147887
    [Abstract] [Full Text] [Related]


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