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Journal Abstract Search


234 related items for PubMed ID: 8723064

  • 1. 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
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  • 2. 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 24; 2(4):265-9. PubMed ID: 1303277
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  • 3. 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 24; 34(4):881-6. PubMed ID: 15115105
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  • 6. Maternal imprinting of human SNRPN, a gene deleted in Prader-Willi syndrome.
    Reed ML, Leff SE.
    Nat Genet; 1994 Feb 24; 6(2):163-7. PubMed ID: 7512861
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  • 8. 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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  • 9. Maternal imprinting of the mouse Snrpn gene and conserved linkage homology with the human Prader-Willi syndrome region.
    Leff SE, Brannan CI, Reed ML, Ozçelik T, Francke U, Copeland NG, Jenkins NA.
    Nat Genet; 1992 Dec 02; 2(4):259-64. PubMed ID: 1303276
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  • 10. 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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  • 11. [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 20; 41(6):453-6. PubMed ID: 14749005
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  • 12. [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 Jun 20; 144(2):113-8. PubMed ID: 15807298
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  • 13. In and around SNRPN.
    Lalande M.
    Nat Genet; 1994 Sep 20; 8(1):5-7. PubMed ID: 7987391
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  • 15. 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
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  • 19. Detection of chromosome 15 deletion in Prader-Willi syndrome using fluorescence in situ hybridization.
    Suzuki Y, Sasagawa I, Yazawa H, Tateno T, Nakada T.
    Arch Androl; 2000 Dec 30; 45(1):13-7. PubMed ID: 10959497
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  • 20. A rapid, PCR based test for differential molecular diagnosis of Prader-Willi and Angelman syndromes.
    Chotai KA, Payne SJ.
    J Med Genet; 1998 Jun 30; 35(6):472-5. PubMed ID: 9643288
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