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Journal Abstract Search

502 related items for PubMed ID: 8957518

  • 1. 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
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  • 2. 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
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  • 6. 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 20; 34(4):881-6. PubMed ID: 15115105
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  • 11. [Molecular genetic study of causes of the Prader-Willi and Angelman syndrome].
    Capková CP, Vrtĕl R, Santavá A, Zapletalová J, Krsiaková J, Hyjánek J, Santavý J.
    Cas Lek Cesk; 2005 Dec 20; 144(2):113-8. PubMed ID: 15807298
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  • 13. Comprehensive methylation analysis in typical and atypical PWS and AS patients with normal biparental chromosomes 15.
    Runte M, Färber C, Lich C, Zeschnigk M, Buchholz T, Smith A, Van Maldergem L, Bürger J, Muscatelli F, Gillessen-Kaesbach G, Horsthemke B, Buiting K.
    Eur J Hum Genet; 2001 Jul 20; 9(7):519-26. PubMed ID: 11464243
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  • 14. Deletions of a differentially methylated CpG island at the SNRPN gene define a putative imprinting control region.
    Sutcliffe JS, Nakao M, Christian S, Orstavik KH, Tommerup N, Ledbetter DH, Beaudet AL.
    Nat Genet; 1994 Sep 20; 8(1):52-8. PubMed ID: 7987392
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  • 15. Small nuclear ribonucleoprotein polypeptide N (SNRPN), an expressed gene in the Prader-Willi syndrome critical region.
    Ozçelik T, Leff S, Robinson W, Donlon T, Lalande M, Sanjines E, Schinzel A, Francke U.
    Nat Genet; 1992 Dec 20; 2(4):265-9. PubMed ID: 1303277
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  • 16. [Methylation-specific multiplex ligation-dependent probe amplification in diagnosis of Prader-Willi syndrome and Angelman syndrome].
    Li MR, Wang XZ, Liu XY, Yang YL, Bao XH, Zhang YH, Xiong H, Zhong N, Qin J, Wu XR, Pan H.
    Zhonghua Yi Xue Za Zhi; 2008 Dec 16; 88(46):3257-61. PubMed ID: 19159549
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  • 17. Imprinted segments in the human genome: different DNA methylation patterns in the Prader-Willi/Angelman syndrome region as determined by the genomic sequencing method.
    Zeschnigk M, Schmitz B, Dittrich B, Buiting K, Horsthemke B, Doerfler W.
    Hum Mol Genet; 1997 Mar 16; 6(3):387-95. PubMed ID: 9147641
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  • 19. Maternal imprinting of human SNRPN, a gene deleted in Prader-Willi syndrome.
    Reed ML, Leff SE.
    Nat Genet; 1994 Feb 16; 6(2):163-7. PubMed ID: 7512861
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