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

486 related items for PubMed ID: 9674903

  • 1. 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]

  • 2. 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 30; 27(5):579-85. PubMed ID: 17159828
    [Abstract] [Full Text] [Related]

  • 3. Exclusion of SNRPN as a major determinant of Prader-Willi syndrome by a translocation breakpoint.
    Schulze A, Hansen C, Skakkebaek NE, Brøndum-Nielsen K, Ledbeter DH, Tommerup N.
    Nat Genet; 1996 Apr 30; 12(4):452-4. PubMed ID: 8630505
    [Abstract] [Full Text] [Related]

  • 4. Validation studies of SNRPN methylation as a diagnostic test for Prader-Willi syndrome.
    Kubota T, Sutcliffe JS, Aradhya S, Gillessen-Kaesbach G, Christian SL, Horsthemke B, Beaudet AL, Ledbetter DH.
    Am J Med Genet; 1996 Dec 02; 66(1):77-80. PubMed ID: 8957518
    [Abstract] [Full Text] [Related]

  • 5. 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]

  • 6. The contribution of uniparental disomy to congenital development defects in children born to mothers at advanced childbearing age.
    Ginsburg C, Fokstuen S, Schinzel A.
    Am J Med Genet; 2000 Dec 18; 95(5):454-60. PubMed ID: 11146466
    [Abstract] [Full Text] [Related]

  • 7. 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 18; 47(3):267-73. PubMed ID: 15337472
    [Abstract] [Full Text] [Related]

  • 8.
    ; . PubMed ID:
    [No Abstract] [Full Text] [Related]

  • 9. 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]

  • 10. Cytogenetic and age-dependent risk factors associated with uniparental disomy 15.
    Robinson WP, Langlois S, Schuffenhauer S, Horsthemke B, Michaelis RC, Christian S, Ledbetter DH, Schinzel A.
    Prenat Diagn; 1996 Sep 20; 16(9):837-44. PubMed ID: 8905898
    [Abstract] [Full Text] [Related]

  • 11. Allele specificity of DNA replication timing in the Angelman/Prader-Willi syndrome imprinted chromosomal region.
    Knoll JH, Cheng SD, Lalande M.
    Nat Genet; 1994 Jan 20; 6(1):41-6. PubMed ID: 8136833
    [Abstract] [Full Text] [Related]

  • 12. Somatic mosaicism for maternal uniparental disomy 15 in a girl with Prader-Willi syndrome: confirmation by cell cloning and identification of candidate downstream genes.
    Horsthemke B, Nazlican H, Hüsing J, Klein-Hitpass L, Claussen U, Michel S, Lich C, Gillessen-Kaesbach G, Buiting K.
    Hum Mol Genet; 2003 Oct 15; 12(20):2723-32. PubMed ID: 12944418
    [Abstract] [Full Text] [Related]

  • 13. [Prader-Willi syndrome and genomic imprinting].
    Wang W, Wang DF, Cui YF, Ni JH, Dong ZY, Fu MF, Fu HM, Lu GQ, Chen FS.
    Zhonghua Er Ke Za Zhi; 2003 Jun 15; 41(6):453-6. PubMed ID: 14749005
    [Abstract] [Full Text] [Related]

  • 14. Mosaicism for maternal uniparental disomy 15 in a boy with some clinical features of Prader-Willi syndrome.
    Zilina O, Kahre T, Talvik I, Oiglane-Shlik E, Tillmann V, Ounap K.
    Eur J Med Genet; 2014 Jun 15; 57(6):279-83. PubMed ID: 24704109
    [Abstract] [Full Text] [Related]

  • 15.
    ; . PubMed ID:
    [No Abstract] [Full Text] [Related]

  • 16. 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 15; 12(3):181-6. PubMed ID: 14694357
    [Abstract] [Full Text] [Related]

  • 17.
    ; . PubMed ID:
    [No Abstract] [Full Text] [Related]

  • 18.
    ; . PubMed ID:
    [No Abstract] [Full Text] [Related]

  • 19. Complex rearrangements of chromosome 15 in two patients with mild/atypical Prader Willi syndrome.
    Salavoura K, Kolialexi A, Sofocleous C, Kalaitzidaki M, Pampanos A, Kitsiou S, Mavrou A.
    Genet Couns; 2008 Mar 15; 19(2):219-24. PubMed ID: 18618997
    [Abstract] [Full Text] [Related]

  • 20. Fetal phenotype of Prader-Willi syndrome due to maternal disomy for chromosome 15.
    L'Herminé AC, Aboura A, Brisset S, Cuisset L, Castaigne V, Labrune P, Frydman R, Tachdjian G.
    Prenat Diagn; 2003 Nov 15; 23(11):938-43. PubMed ID: 14634983
    [Abstract] [Full Text] [Related]

    Page: [Next] [New Search]
    of 25.