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Journal Abstract Search

136 related items for PubMed ID: 12519378

  • 1. 'Severe' Prader-Willi syndrome with a large deletion of chromosome 15 due to an unbalanced t(15,22)(q14;q11.2) translocation.
    Matsumura M, Kubota T, Hidaka E, Wakui K, Kadowaki S, Ueta I, Shimizu T, Ueno I, Yamauchi K, Herzing LB, Nurmi EL, Sutcliffe JS, Fukushima Y, Katsuyama T.
    Clin Genet; 2003 Jan; 63(1):79-81. PubMed ID: 12519378
    [No Abstract] [Full Text] [Related]

  • 2. 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]

  • 3. 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 01; 56(9):510-4. PubMed ID: 23856564
    [Abstract] [Full Text] [Related]

  • 4. Expanded Prader-Willi syndrome due to chromosome 15q11.2-14 deletion: report and a review of literature.
    Liu AP, Tang WF, Lau ET, Chan KY, Kan AS, Wong KY, Tso WW, Jalal K, Lee SL, Chau CS, Chung BH.
    Am J Med Genet A; 2013 Jun 01; 161A(6):1309-18. PubMed ID: 23633107
    [Abstract] [Full Text] [Related]

  • 5. A case of Prader-Willi syndrome arising as a result of familial unbalanced translocation t(11;15)(q25;q13).
    Krajewska Walasek M, Gutkowska A, Bielińska B, Goryluk-Kozakiewicz B, Popowska E.
    Clin Genet; 1998 Jul 01; 54(1):60-4. PubMed ID: 9727742
    [Abstract] [Full Text] [Related]

  • 6. Investigations with fluorescence in situ hybridization (FISH) demonstrate loss of the telomeres on the reciprocal chromosome in three unbalanced translocations involving chromosome 15 in the Prader-Willi and Angelman syndromes.
    Jauch A, Robson L, Smith A.
    Hum Genet; 1995 Sep 01; 96(3):345-9. PubMed ID: 7649555
    [Abstract] [Full Text] [Related]

  • 7. Prader-Willi syndrome and Robertsonian translocations involving chromosome 15.
    Casamassima AC, Shapiro LR, Wilmot PL, Smith KB.
    Clin Genet; 1991 Apr 01; 39(4):294-7. PubMed ID: 1817468
    [Abstract] [Full Text] [Related]

  • 8. Fluorescence in-situ hybridisation and molecular studies used in the characterisation of a Robertsonian translocation (13q15q) in Prader-Willi syndrome.
    Smith A, Robson L, Neumann A, Mulcahy M, Chabros V, Deng ZM, Woodage T, Trent RJ.
    Clin Genet; 1993 Jan 01; 43(1):5-8. PubMed ID: 8462197
    [Abstract] [Full Text] [Related]

  • 9. Expanded Prader-Willi Syndrome due to an Unbalanced de novo Translocation t(14;15): Report and Review of the Literature.
    Xefteris A, Sekerli E, Arampatzi A, Charisiou S, Oikonomidou E, Efstathiou G, Peroulis N, Malamidou A, Tsoulou-Panidou E, Agakidou E, Sarafidis K, Psarakis A, Kataras T, Daskalakis G.
    Cytogenet Genome Res; 2019 Jan 01; 159(3):109-118. PubMed ID: 31816617
    [Abstract] [Full Text] [Related]

  • 10. Prader-Willi syndrome in siblings, due to unbalanced translocation between chromosomes 15 and 22.
    Fernandez F, Berry C, Mutton D.
    Arch Dis Child; 1987 Aug 01; 62(8):841-3. PubMed ID: 3662590
    [Abstract] [Full Text] [Related]

  • 11. 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]

  • 12. Unbalanced translocation t(15;22) in "severe" Prader-Willi syndrome.
    Smith A, Jauch A, St Heaps L, Robson L, Kearney B.
    Ann Genet; 2000 Jun 30; 43(3-4):125-30. PubMed ID: 11164193
    [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. 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 01; 47(3):267-73. PubMed ID: 15337472
    [Abstract] [Full Text] [Related]

  • 15. Microdeletion 15q26.2qter and Microduplication 18q23 in a Patient with Prader-Willi-Like Syndrome: Clinical Findings.
    Dello Russo P, Demori E, Sechi A, Passon N, Romagno D, Gnan C, Zoratti R, Damante G.
    Cytogenet Genome Res; 2016 Dec 01; 148(1):14-8. PubMed ID: 27160288
    [Abstract] [Full Text] [Related]

  • 16. Diagnosing Prader-Willi syndrome.
    Young ID.
    Lancet; 1995 Jun 24; 345(8965):1590. PubMed ID: 7783534
    [No Abstract] [Full Text] [Related]

  • 17. 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 24; 65(6):477-82. PubMed ID: 15151506
    [Abstract] [Full Text] [Related]

  • 18. 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]

  • 19. Trisomy 9p and Prader-Willi syndromes in an infant resulting from a de-novo unbalanced t(9;15) translocation.
    Carter MT, Jacob FD, Sinclair-Bourque E, Ray R, Allanson JE.
    Clin Dysmorphol; 2009 Apr 01; 18(2):103-106. PubMed ID: 19282755
    [Abstract] [Full Text] [Related]

  • 20. A Y/15 translocation in a 45,X male with Prader-Willi syndrome.
    Puvabanditsin S, Garrow E, Razi S, Mohar AG, Tadros JJ, Phattraprayoon N, Patel P.
    Genet Couns; 2007 Apr 01; 18(4):417-21. PubMed ID: 18286823
    [Abstract] [Full Text] [Related]

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