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Journal Abstract Search

150 related items for PubMed ID: 2240045

  • 1. De novo (15;21) unbalanced translocation of paternal origin in a girl with Prader-Willi syndrome.
    Cuoco C, Bicocchi MP, Granata D, Mezzano P, Serra G.
    Am J Med Genet; 1990 Sep; 37(1):62-4. PubMed ID: 2240045
    [Abstract] [Full Text] [Related]

  • 2. True telomeric translocation in a baby with the Prader-Willi phenotype.
    Reeve A, Norman A, Sinclair P, Whittington-Smith R, Hamey Y, Donnai D, Read A.
    Am J Med Genet; 1993 Aug 01; 47(1):1-6. PubMed ID: 8368237
    [Abstract] [Full Text] [Related]

  • 3. Unbalanced translocation (15;17)(q13;13.3) with apparent Prader-Willi syndrome but without Miller-Dieker syndrome.
    Elder FF, Nichols MM, Hood OJ, Harrison WR.
    Am J Med Genet; 1985 Mar 01; 20(3):519-24. PubMed ID: 3993677
    [Abstract] [Full Text] [Related]

  • 4. Deletion of chromosome 15pter-->q11.2 due to t(Y;15) in a boy with Prader-Willi syndrome.
    Qumsiyeh MB, Dalton JD, Gordon PL, Wilroy RS, Tharapel AT.
    Am J Med Genet; 1992 Jan 01; 42(1):109-11. PubMed ID: 1308348
    [Abstract] [Full Text] [Related]

  • 5. A de novo unbalanced reciprocal translocation identified as paternal in origin in the Prader-Willi syndrome.
    Smith A, Lindeman R, Volpato F, Kearney A, White S, Haan E, Trent RJ.
    Hum Genet; 1991 Mar 01; 86(5):534-6. PubMed ID: 2016095
    [Abstract] [Full Text] [Related]

  • 6. The Prader-Willi syndrome with a 15/3 translocation.
    Kucerová M, Straková M, Polívková Z.
    J Med Genet; 1979 Jun 01; 16(3):234-5. PubMed ID: 469905
    [Abstract] [Full Text] [Related]

  • 7. t(15;21)(q15;q22.1) pat resulting in partial trisomy and partial monosomy of chromosomes 15 and 21 in two offspring.
    Abeliovich D, Dagan J, Lerer I, Silberstein S, Katznelson MB, Frydman M.
    Am J Med Genet; 1996 Dec 02; 66(1):45-51. PubMed ID: 8957510
    [Abstract] [Full Text] [Related]

  • 8. Prader-Willi syndrome with an unusually large 15q deletion due to an unbalanced translocation t(4;15).
    Varela MC, Lopes GM, Koiffmann CP.
    Ann Genet; 2004 Dec 02; 47(3):267-73. PubMed ID: 15337472
    [Abstract] [Full Text] [Related]

  • 9. A case of an atypically large proximal 15q deletion as cause for Prader-Willi syndrome arising from a de novo unbalanced translocation.
    Hickey SE, Thrush DL, Walters-Sen L, Reshmi SC, Astbury C, Gastier-Foster JM, Atkin J.
    Eur J Med Genet; 2013 Sep 02; 56(9):510-4. PubMed ID: 23856564
    [Abstract] [Full Text] [Related]

  • 10. Prader-Willi syndrome resulting from an unbalanced translocation: characterization by array comparative genomic hybridization.
    Klein OD, Cotter PD, Albertson DG, Pinkel D, Tidyman WE, Moore MW, Rauen KA.
    Clin Genet; 2004 Jun 02; 65(6):477-82. PubMed ID: 15151506
    [Abstract] [Full Text] [Related]

  • 11. Prader-Willi syndrome due to uniparental disomy in a patient with a balanced chromosomal translocation.
    Calounova G, Novotna D, Simandlova M, Havlovicova M, Zumrová A, Kocarek E, Sedlacek Z.
    Neuro Endocrinol Lett; 2006 Oct 02; 27(5):579-85. PubMed ID: 17159828
    [Abstract] [Full Text] [Related]

  • 12. Non-reciprocal translocation (5;15), isodicentric (15) and Prader-Willi syndrome.
    Murdock RL, Wurster-Hill DH.
    Am J Med Genet; 1986 Sep 02; 25(1):61-9. PubMed ID: 3799724
    [Abstract] [Full Text] [Related]

  • 13. Prader-Willi syndrome due to 15q11-q13 deletion in a girl with an inherited (13;14) Robertsonian translocation.
    Alliende A, Curotto B, Santa Maria L, Cortés F, Aracena M.
    Am J Med Genet; 2002 Dec 01; 113(3):307-8. PubMed ID: 12439903
    [No Abstract] [Full Text] [Related]

  • 14. Cytogenetic and molecular studies of an X;21 translocation previously diagnosed as complete monosomy 21.
    Cardoso LC, Moraes L, Camilo MJ, Mulatinho MV, Ramos H, Almeida JC, Llerena JC, Seuánez HN, Vargas FR.
    Eur J Med Genet; 2008 Dec 01; 51(6):588-97. PubMed ID: 18674646
    [Abstract] [Full Text] [Related]

  • 15. Unique karyotypes in two patients with Prader-Willi syndrome.
    Narahara K, Hiramoto K, Murakami M, Miyake S, Tsuji K, Yokoyama Y, Namba H, Ninomiya S, Murakami R, Seino Y.
    Am J Med Genet; 1992 Mar 01; 42(5):671-7. PubMed ID: 1632436
    [Abstract] [Full Text] [Related]

  • 16. Comparison of the 15q deletions in Prader-Willi and Angelman syndromes: specific regions, extent of deletions, parental origin, and clinical consequences.
    Magenis RE, Toth-Fejel S, Allen LJ, Black M, Brown MG, Budden S, Cohen R, Friedman JM, Kalousek D, Zonana J.
    Am J Med Genet; 1990 Mar 01; 35(3):333-49. PubMed ID: 2309780
    [Abstract] [Full Text] [Related]

  • 17. Difficulties of genetic counseling and prenatal diagnosis in a consanguineous couple segregating for the same translocation (14;15) (q11;q13) and at risk for Prader-Willi and Angelman syndromes.
    Flori E, Biancalana V, Girard-Lemaire F, Favre R, Flori J, Doray B, Mandel JL.
    Eur J Hum Genet; 2004 Mar 01; 12(3):181-6. PubMed ID: 14694357
    [Abstract] [Full Text] [Related]

  • 18. Nonreciprocal and jumping translocations of 15q1----qter in Prader-Willi syndrome.
    Rivera H, Zuffardi O, Gargantini L.
    Am J Med Genet; 1990 Nov 01; 37(3):311-7. PubMed ID: 2260556
    [Abstract] [Full Text] [Related]

  • 19. Unbalanced reciprocal translocations in cases of Prader-Willi syndrome.
    Duckett DP, Roberts SH, Davies P.
    Hum Genet; 1984 Nov 01; 67(2):156-61. PubMed ID: 6336319
    [Abstract] [Full Text] [Related]

  • 20. Unbalanced translocation t(15;22) in "severe" Prader-Willi syndrome.
    Smith A, Jauch A, St Heaps L, Robson L, Kearney B.
    Ann Genet; 2000 Nov 01; 43(3-4):125-30. PubMed ID: 11164193
    [Abstract] [Full Text] [Related]

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