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830 related items for PubMed ID: 16497571

  • 1. Unbalanced inherited complex chromosome rearrangement involving chromosome 8, 10, 11 and 16 in a patient with congenital malformations and delayed development.
    Karmous-Benailly H, Giuliano F, Massol C, Bloch C, De Ricaud D, Lambert JC, Perelman S.
    Eur J Med Genet; 2006; 49(5):431-8. PubMed ID: 16497571
    [Abstract] [Full Text] [Related]

  • 2. De novo balanced complex chromosome rearrangement (CCR) involving chromosome 8, 11 and 16 in a boy with mild developmental delay and psychotic disorder.
    Goumy C, Mihaescu M, Tchirkov A, Giollant M, Benier C, Francannet C, Jaffray JY, Geneix A, Vago P.
    Genet Couns; 2006; 17(3):371-9. PubMed ID: 17100206
    [Abstract] [Full Text] [Related]

  • 3. Familial complex chromosomal rearrangement resulting in a recombinant chromosome.
    Berend SA, Bodamer OA, Shapira SK, Shaffer LG, Bacino CA.
    Am J Med Genet; 2002 May 15; 109(4):311-7. PubMed ID: 11992486
    [Abstract] [Full Text] [Related]

  • 4. Prenatal diagnosis of a de novo complex chromosome rearrangement (CCR) mediated by six breakpoints, and a review of 20 prenatally ascertained CCRs.
    Giardino D, Corti C, Ballarati L, Finelli P, Valtorta C, Botta G, Giudici M, Grosso E, Larizza L.
    Prenat Diagn; 2006 Jun 15; 26(6):565-70. PubMed ID: 16683274
    [Abstract] [Full Text] [Related]

  • 5. Molecular analysis of a complex chromosomal rearrangement and a review of familial cases.
    Batista DA, Pai GS, Stetten G.
    Am J Med Genet; 1994 Nov 15; 53(3):255-63. PubMed ID: 7856662
    [Abstract] [Full Text] [Related]

  • 6. De novo highly complex chromosome rearrangement (CCR) involving five breakpoints with congenital anomalies analyzed by FISH.
    Curotti G, Benkhalifa M, Raybaud C, Picard F, Bellec V, Qumsiyeh MB.
    Genet Couns; 1999 Nov 15; 10(3):259-64. PubMed ID: 10546097
    [Abstract] [Full Text] [Related]

  • 7. 8q22-->qter duplication in a child with multiple congenital malformations: case report.
    Sasiadek M, Stembalska A, Schlade K, Zych M.
    Med Sci Monit; 2000 Nov 15; 6(1):141-4. PubMed ID: 11208302
    [Abstract] [Full Text] [Related]

  • 8. DiGeorge syndrome and related syndromes associated with 22q11.2 deletions. A review.
    Demczuk S, Aurias A.
    Ann Genet; 1995 Nov 15; 38(2):59-76. PubMed ID: 7486827
    [Abstract] [Full Text] [Related]

  • 9. Recombinant balanced and unbalanced translocations as a consequence of a balanced complex chromosomal rearrangement involving eight breakpoints in four chromosomes.
    Röthlisberger B, Kotzot D, Brecevic L, Koehler M, Balmer D, Binkert F, Schinzel A.
    Eur J Hum Genet; 1999 Dec 15; 7(8):873-83. PubMed ID: 10602362
    [Abstract] [Full Text] [Related]

  • 10. Complex chromosome rearrangements and congenital anomalies.
    Kousseff BG, Nichols P, Essig YP, Miller K, Weiss A, Tedesco TA.
    Am J Med Genet; 1987 Apr 15; 26(4):771-82. PubMed ID: 3591822
    [Abstract] [Full Text] [Related]

  • 11. A complex chromosome rearrangement involving four chromosomes, nine breakpoints and a cryptic 0.6-Mb deletion in a boy with cerebellar hypoplasia and defects in skull ossification.
    Guilherme RS, Cernach MC, Sfakianakis TE, Takeno SS, Nardozza LM, Rossi C, Bhatt SS, Liehr T, Melaragno MI.
    Cytogenet Genome Res; 2013 Apr 15; 141(4):317-23. PubMed ID: 23817307
    [Abstract] [Full Text] [Related]

  • 12. Submicroscopic unbalanced translocation resulting in del10p/dup13q detected by subtelomere FISH.
    Roos A, Rudnik-Schöneborn S, Eggermann K, Eggermann T, Senderek J, Schwanitz G, Zerres K, Schüler HM.
    Eur J Med Genet; 2006 Apr 15; 49(6):505-10. PubMed ID: 16905374
    [Abstract] [Full Text] [Related]

  • 13. Subtelomeric chromosomal rearrangements detected in patients with idiopathic mental retardation and dysmorphic features.
    Caliskan MO, Karauzum SB, Mihci E, Tacoy S, Luleci G.
    Genet Couns; 2005 Apr 15; 16(2):129-38. PubMed ID: 16080292
    [Abstract] [Full Text] [Related]

  • 14. Prenatal diagnosis of de novo t(2;18;14)(q33.1;q12.2;q31.2), dup(5)(q34q34), del(7)(p21.1p21.1), and del(10)(q25.3q25.3) and a review of the prenatally ascertained de novo apparently balanced complex and multiple chromosomal rearrangements.
    Chen CP, Chern SR, Lee CC, Lin CC, Li YC, Hsieh LJ, Chen WL, Wang W.
    Prenat Diagn; 2006 Feb 15; 26(2):138-46. PubMed ID: 16470734
    [Abstract] [Full Text] [Related]

  • 15. Analysis of a de novo complex chromosome rearrangement involving chromosomes 4, 11, 12 and 13 and eight breakpoints by conventional cytogenetic, fluorescence in situ hybridization and spectral karyotyping.
    Peschka B, Leygraaf J, Hansmann D, Hansmann M, Schröck E, Ried T, Engels H, Schwanitz G, Schubert R.
    Prenat Diagn; 1999 Dec 15; 19(12):1143-9. PubMed ID: 10590433
    [Abstract] [Full Text] [Related]

  • 16. Identification of a subtle chromosomal translocation in a family with recurrent miscarriages and a child with multiple congenital anomalies. A case report.
    Shaffer LG, Spikes AS, Macha M, Dunn R.
    J Reprod Med; 1996 May 15; 41(5):367-71. PubMed ID: 8725766
    [Abstract] [Full Text] [Related]

  • 17. Cryptic genomic imbalances in de novo and inherited apparently balanced chromosomal rearrangements: array CGH study of 47 unrelated cases.
    Schluth-Bolard C, Delobel B, Sanlaville D, Boute O, Cuisset JM, Sukno S, Labalme A, Duban-Bedu B, Plessis G, Jaillard S, Dubourg C, Henry C, Lucas J, Odent S, Pasquier L, Copin H, Latour P, Cordier MP, Nadeau G, Till M, Edery P, Andrieux J.
    Eur J Med Genet; 2009 May 15; 52(5):291-6. PubMed ID: 19505601
    [Abstract] [Full Text] [Related]

  • 18. FISH analysis of a complex chromosome rearrangement involving nine breakpoints on chromosomes 6, 12, 14 and 16.
    Phelan MC, Blackburn W, Rogers RC, Crawford EC, Cooley NR, Schrock E, Ning Y, Ried T.
    Prenat Diagn; 1998 Nov 15; 18(11):1174-80. PubMed ID: 9854728
    [Abstract] [Full Text] [Related]

  • 19. De novo erythroleukemia chromosome features include multiple rearrangements, with special involvement of chromosomes 11 and 19.
    Cigudosa JC, Odero MD, Calasanz MJ, Solé F, Salido M, Arranz E, Martínez-Ramirez A, Urioste M, Alvarez S, Cervera JV, MacGrogan D, Sanz MA, Nimer SD, Benitez J.
    Genes Chromosomes Cancer; 2003 Apr 15; 36(4):406-12. PubMed ID: 12619165
    [Abstract] [Full Text] [Related]

  • 20. Molecular cytogenetic characterization of a 10p14 deletion that includes the DGS2 region in a patient with multiple anomalies.
    Skrypnyk C, Goecke TO, Majewski F, Bartsch O.
    Am J Med Genet; 2002 Nov 22; 113(2):207-12. PubMed ID: 12407714
    [Abstract] [Full Text] [Related]

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