These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.


Pubmed for Handhelds

PUBMED FOR HANDHELDS

Journal Abstract Search

119 related items for PubMed ID: 8989457

  • 1. Identification of mosaicism in Prader-Willi syndrome using fluorescent in situ hybridization.
    Mowery-Rushton PA, Hanchett JM, Zipf WB, Rogan PK, Surti U.
    Am J Med Genet; 1996 Dec 30; 66(4):403-12. PubMed ID: 8989457
    [Abstract] [Full Text] [Related]

  • 2. Low level of mosaicism in atypical Prader Willi syndrome: detection using fluorescent in situ hybridization.
    Chaddha V, Agarwal S, Phadke SR, Halder A.
    Indian Pediatr; 2003 Feb 30; 40(2):166-8. PubMed ID: 12626835
    [Abstract] [Full Text] [Related]

  • 3. Deletion of small nuclear ribonucleoprotein polypeptide N (SNRPN) in Prader-Willi syndrome detected by fluorescence in situ hybridization: two sibs with the typical phenotype without a cytogenetic deletion in chromosome 15q.
    Ishikawa T, Kibe T, Wada Y.
    Am J Med Genet; 1996 Apr 24; 62(4):350-2. PubMed ID: 8723064
    [Abstract] [Full Text] [Related]

  • 4. FISH analysis in Prader-Willi and Angelman syndrome patients.
    Bettio D, Rizzi N, Giardino D, Grugni G, Briscioli V, Selicorni A, Carnevale F, Larizza L.
    Am J Med Genet; 1995 Mar 27; 56(2):224-8. PubMed ID: 7625450
    [Abstract] [Full Text] [Related]

  • 5. Clinical spectrum and molecular diagnosis of Angelman and Prader-Willi syndrome patients with an imprinting mutation.
    Saitoh S, Buiting K, Cassidy SB, Conroy JM, Driscoll DJ, Gabriel JM, Gillessen-Kaesbach G, Glenn CC, Greenswag LR, Horsthemke B, Kondo I, Kuwajima K, Niikawa N, Rogan PK, Schwartz S, Seip J, Williams CA, Nicholls RD.
    Am J Med Genet; 1997 Jan 20; 68(2):195-206. PubMed ID: 9028458
    [Abstract] [Full Text] [Related]

  • 6. [Prader-Willi syndrome large deletion on two brothers. Is this the exception that confirm the rule?].
    Fernández-Novoa MC, Vargas MT, Vizmanos JL, Garnacho C, Martínez JJ, Sanz P, Lluch D.
    Rev Neurol; 1997 Jan 20; 32(10):935-8. PubMed ID: 11424049
    [Abstract] [Full Text] [Related]

  • 7. Prenatal diagnosis of chromosome 15 abnormalities in the Prader-Willi/Angelman syndrome region by traditional and molecular cytogenetics.
    Toth-Fejel S, Magenis RE, Leff S, Brown MG, Comegys B, Lawce H, Berry T, Kesner D, Webb MJ, Olson S.
    Am J Med Genet; 1995 Feb 13; 55(4):444-52. PubMed ID: 7762584
    [Abstract] [Full Text] [Related]

  • 8. Comparison of high resolution chromosome banding and fluorescence in situ hybridization (FISH) for the laboratory evaluation of Prader-Willi syndrome and Angelman syndrome.
    Delach JA, Rosengren SS, Kaplan L, Greenstein RM, Cassidy SB, Benn PA.
    Am J Med Genet; 1994 Aug 01; 52(1):85-91. PubMed ID: 7977469
    [Abstract] [Full Text] [Related]

  • 9. Deletions of proximal 15q without Prader-Willi syndrome.
    Greenberg F, Ledbetter DH.
    Am J Med Genet; 1987 Dec 01; 28(4):813-20. PubMed ID: 3688019
    [Abstract] [Full Text] [Related]

  • 10. Molecular markers for diagnosis of Prader-Willi syndrome in thai patients by fish.
    Wiriyaukaradecha S, Patmasiriwat P, Wasant P, Tantiniti P.
    Southeast Asian J Trop Med Public Health; 2003 Dec 01; 34(4):881-6. PubMed ID: 15115105
    [Abstract] [Full Text] [Related]

  • 11. [A clinical, cytogenetic and molecular study of 10 patients with the Prader-Willi syndrome].
    Barabash A, Robledo M, Sanz R, Renedo M, Ramos C, Ayuso C, Benítez J.
    Med Clin (Barc); 1997 Mar 01; 108(8):304-6. PubMed ID: 9121208
    [Abstract] [Full Text] [Related]

  • 12. Prader-Willi-like phenotype: investigation of 1p36 deletion in 41 patients with delayed psychomotor development, hypotonia, obesity and/or hyperphagia, learning disabilities and behavioral problems.
    D'Angelo CS, Da Paz JA, Kim CA, Bertola DR, Castro CI, Varela MC, Koiffmann CP.
    Eur J Med Genet; 2006 Mar 01; 49(6):451-60. PubMed ID: 16564757
    [Abstract] [Full Text] [Related]

  • 13. Deletion of chromosome 15 (q11-13) in a Prader-Labhart-Willi syndrome clinic population.
    Cassidy SB, Thuline HC, Holm VA.
    Am J Med Genet; 1984 Feb 01; 17(2):485-95. PubMed ID: 6336316
    [Abstract] [Full Text] [Related]

  • 14. Maternal disomy and Prader-Willi syndrome consistent with gamete complementation in a case of familial translocation (3;15) (p25;q11.2).
    Park JP, Moeschler JB, Hani VH, Hawk AB, Belloni DR, Noll WW, Mohandas TK.
    Am J Med Genet; 1998 Jun 30; 78(2):134-9. PubMed ID: 9674903
    [Abstract] [Full Text] [Related]

  • 15. Molecular diagnosis of Prader-Willi syndrome.
    Pangkanon S.
    J Med Assoc Thai; 2003 Aug 30; 86 Suppl 3():S510-6. PubMed ID: 14700141
    [Abstract] [Full Text] [Related]

  • 16. Imprinting center analysis in Prader-Willi and Angelman syndrome patients with typical and atypical phenotypes.
    Camprubí C, Coll MD, Villatoro S, Gabau E, Kamli A, Martínez MJ, Poyatos D, Guitart M.
    Eur J Med Genet; 2007 Aug 30; 50(1):11-20. PubMed ID: 17095305
    [Abstract] [Full Text] [Related]

  • 17. 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 Aug 30; 47(3):267-73. PubMed ID: 15337472
    [Abstract] [Full Text] [Related]

  • 18. Interstitial 6q deletion with a Prader-Willi-like phenotype: a new case and review of the literature.
    Gilhuis HJ, van Ravenswaaij CM, Hamel BJ, Gabreëls FJ.
    Eur J Paediatr Neurol; 2000 Aug 30; 4(1):39-43. PubMed ID: 10701104
    [Abstract] [Full Text] [Related]

  • 19. Mosaic imprinting defect in a patient with an almost typical expression of the Prader-Willi syndrome.
    Wey E, Bartholdi D, Riegel M, Nazlican H, Horsthemke B, Schinzel A, Baumer A.
    Eur J Hum Genet; 2005 Mar 30; 13(3):273-7. PubMed ID: 15578038
    [Abstract] [Full Text] [Related]

  • 20. 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 30; 65(6):477-82. PubMed ID: 15151506
    [Abstract] [Full Text] [Related]

    Page: [Next] [New Search]
    of 6.