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Journal Abstract Search

509 related items for PubMed ID: 10756343

  • 1. First clinical case of small de novo duplication of 19q (13.3-13.4) confirmed by FISH.
    Bhat M, Morrison PJ, Getty A, McManus D, Tubman R, Nevin NC.
    Am J Med Genet; 2000 Mar 20; 91(3):201-3. PubMed ID: 10756343
    [Abstract] [Full Text] [Related]

  • 2. Prenatal detection of a de novo terminal inverted duplication 4p in a fetus with the Wolf-Hirschhorn syndrome phenotype.
    Beaujard MP, Jouannic JM, Bessières B, Borie C, Martin-Luis I, Fallet-Bianco C, Portnoï MF.
    Prenat Diagn; 2005 Jun 20; 25(6):451-5. PubMed ID: 15966060
    [Abstract] [Full Text] [Related]

  • 3. Trisomy 6q syndrome: a case with a << de novo >> 6q23 tandem duplication.
    Causio F, Fischetto R, Carnevale F, Pansini A, Rocchi M.
    Genet Couns; 2001 Jun 20; 12(2):145-50. PubMed ID: 11491309
    [Abstract] [Full Text] [Related]

  • 4. 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]

  • 5. ["De novo" partial trisomy 16p (author's transl)].
    Gabarrón Llamas J, Cabrerizo Portero D, Montserrat Bernal F, Rodríguez Costa T, Cabrerizo Merino C, Rodríguez López F.
    An Esp Pediatr; 1981 Dec 15; 15(6):587-91. PubMed ID: 7337311
    [Abstract] [Full Text] [Related]

  • 6. Molecular and cytogenetic characterization of 9p- abnormalities.
    Teebi AS, Gibson L, McGrath J, Meyn MS, Breg WR, Yang-Feng TL.
    Am J Med Genet; 1993 May 15; 46(3):288-92. PubMed ID: 8488873
    [Abstract] [Full Text] [Related]

  • 7. Cytogenetic and molecular analysis in trisomy 12p.
    Allen TL, Brothman AR, Carey JC, Chance PF.
    Am J Med Genet; 1996 May 03; 63(1):250-6. PubMed ID: 8723118
    [Abstract] [Full Text] [Related]

  • 8. A rare case of de novo distal 19q trisomy prenatally diagnosed.
    Rombout S, Sartenaer D, Parmentier B, Dugauquier C, Gillerot Y.
    Prenat Diagn; 2004 Oct 03; 24(10):822-7. PubMed ID: 15503276
    [Abstract] [Full Text] [Related]

  • 9. Direct tandem duplication in chromosome 19q characterized by array CGH.
    Palomares Bralo M, Delicado A, Lapunzina P, Velázquez Fragua R, Villa O, Angeles Mori M, Luisa de Torres M, Fernández L, Pérez Jurado LA, López Pajares I.
    Eur J Med Genet; 2008 Oct 03; 51(3):257-63. PubMed ID: 18342596
    [Abstract] [Full Text] [Related]

  • 10. Confirmation of proximal 1q duplication using fluorescence in situ hybridization.
    Chen H, Kusyk CJ, Tuck-Muller CM, Martinez JE, Dorand RD, Wertelecki W.
    Am J Med Genet; 1994 Mar 01; 50(1):28-31. PubMed ID: 8160749
    [Abstract] [Full Text] [Related]

  • 11. Maternal balanced translocation (4;21) leading to an offspring with partial duplication of 4q and 21q without phenotypic manifestations of Down syndrome.
    El-Ruby M, Hemly NA, Zaki MS.
    Genet Couns; 2007 Mar 01; 18(2):217-26. PubMed ID: 17710874
    [Abstract] [Full Text] [Related]

  • 12. Translocation/duplication of 9p onto a duplicated 4q.
    Rivera H, Figuera LE, Vasquez AI.
    Genet Couns; 1992 Mar 01; 3(4):201-3. PubMed ID: 1472355
    [Abstract] [Full Text] [Related]

  • 13. Prenatal diagnosis of partial trisomy 1q using fluorescent in situ hybridization.
    DuPont BR, Huff RW, Ridgway LE, Stratton RF, Moore CM.
    Am J Med Genet; 1994 Mar 01; 50(1):21-7. PubMed ID: 8160748
    [Abstract] [Full Text] [Related]

  • 14. Chromosome 10p11.2-p12.2 duplication: report of a patient and review of the literature.
    Mégarbané A, Gosset P, Souraty N, Lapierre JM, Korban R, Zahed L, Samaras L, Vekemans M, Prieur M.
    Am J Med Genet; 2001 Dec 01; 104(3):204-8. PubMed ID: 11754045
    [Abstract] [Full Text] [Related]

  • 15. Molecular cytogenetic determination of a deletion/duplication of 1q that results in a trisomy 18 syndrome-like phenotype.
    Mewar R, Harrison W, Weaver DD, Palmer C, Davee MA, Overhauser J.
    Am J Med Genet; 1994 Aug 15; 52(2):178-83. PubMed ID: 7802005
    [Abstract] [Full Text] [Related]

  • 16. [Trisomy of the short arm of chromosome 10p; description of a female patient with de novo duplication 10p11.2-15].
    Fechtrup B, Kalhoff H, Diekmann L, Fritz B.
    Klin Padiatr; 2000 Aug 15; 212(1):35-40. PubMed ID: 10719682
    [Abstract] [Full Text] [Related]

  • 17. The characteristic phenotype of distal 9q3 trisomy is due to duplication of band 9q32.
    Kleczkowska A, Fryns JP, Lemay P, Van den Berghe H.
    Genet Couns; 1993 Aug 15; 4(3):217-21. PubMed ID: 8267931
    [Abstract] [Full Text] [Related]

  • 18. Pericentric inversion with partial 7(q35-->qter) duplication and 7pter deletion: diagnosis by cytogenetic and fish analysis in a 29-year-old male patient.
    Lukusa T, Van Buggenhout G, Devriendt K, Fryns JP.
    Genet Couns; 2002 Aug 15; 13(1):1-10. PubMed ID: 12017231
    [Abstract] [Full Text] [Related]

  • 19. Partial trisomy 13 in an infant with a mild phenotype: application of fluorescence in situ hybridization in cytogenetic syndromes.
    Begovic D, Hitrec V, Lasan R, Letica L, Baric I, Sarnavka V, Galic S.
    Croat Med J; 1998 Jun 15; 39(2):212-5. PubMed ID: 9575279
    [Abstract] [Full Text] [Related]

  • 20. Duplication of distal 22q.
    Abeliovich D, Maor E, Bashan N, Carmi R.
    Am J Med Genet; 1989 Mar 15; 32(3):346-9. PubMed ID: 2729354
    [Abstract] [Full Text] [Related]

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