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Journal Abstract Search

291 related items for PubMed ID: 1308348

  • 21.
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  • 22. Unbalanced translocation 46,XY,-15,+der(22)t(15;22)(q13;q11)pat: case report and review of the literature.
    Van Hove JL, McConkie-Rosell A, Chen YT, Iafolla AK, Lanman JT, Hennessy MD, Kahler SG.
    Am J Med Genet; 1992 Sep 01; 44(1):24-30. PubMed ID: 1519645
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  • 23. 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
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  • 24. 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
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  • 25. 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
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  • 28. [High-resolution cytogenetic study of a patient with Prader-Willi syndrome].
    Shi Y.
    Zhongguo Yi Xue Ke Xue Yuan Xue Bao; 1993 Jun 27; 15(3):217-20. PubMed ID: 8222009
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  • 31. 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 27; 43(1):5-8. PubMed ID: 8462197
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  • 34. 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 27; 56(9):510-4. PubMed ID: 23856564
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  • 37. Clinical comparison of 59 Prader-Willi patients with and without the 15(q12) deletion.
    Wenger SL, Hanchett JM, Steele MW, Maier BV, Golden WL.
    Am J Med Genet; 1987 Dec 27; 28(4):881-7. PubMed ID: 3688026
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  • 38. 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 Dec 27; 4(1):39-43. PubMed ID: 10701104
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