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Journal Abstract Search

209 related items for PubMed ID: 10797418

  • 1. Submicroscopic deletion in cousins with Prader-Willi syndrome causes a grandmatrilineal inheritance pattern: effects of imprinting.
    Ming JE, Blagowidow N, Knoll JH, Rollings L, Fortina P, McDonald-McGinn DM, Spinner NB, Zackai EH.
    Am J Med Genet; 2000 May 01; 92(1):19-24. PubMed ID: 10797418
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  • 2. 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 01; 12(4):452-4. PubMed ID: 8630505
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  • 3. [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 01; 41(6):453-6. PubMed ID: 14749005
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  • 4. Prader-Willi syndrome and atypical submicroscopic 15q11-q13 deletions with or without imprinting defects.
    Hassan M, Butler MG.
    Eur J Med Genet; 2016 Nov 01; 59(11):584-589. PubMed ID: 27659713
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  • 5. 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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  • 6. 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 24; 6(3):387-95. PubMed ID: 9147641
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  • 7. 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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  • 8. Paternal deletion from Snrpn to Ube3a in the mouse causes hypotonia, growth retardation and partial lethality and provides evidence for a gene contributing to Prader-Willi syndrome.
    Tsai TF, Jiang YH, Bressler J, Armstrong D, Beaudet AL.
    Hum Mol Genet; 1999 Aug 20; 8(8):1357-64. PubMed ID: 10400982
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  • 12. Inherited microdeletions in the Angelman and Prader-Willi syndromes define an imprinting centre on human chromosome 15.
    Buiting K, Saitoh S, Gross S, Dittrich B, Schwartz S, Nicholls RD, Horsthemke B.
    Nat Genet; 1995 Apr 20; 9(4):395-400. PubMed ID: 7795645
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  • 13. Influence of the Prader-Willi syndrome imprinting center on the DNA methylation landscape in the mouse brain.
    Brant JO, Riva A, Resnick JL, Yang TP.
    Epigenetics; 2014 Nov 20; 9(11):1540-56. PubMed ID: 25482058
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  • 16. 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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  • 17. Three siblings with Prader-Willi syndrome caused by imprinting center microdeletions and review.
    Hartin SN, Hossain WA, Weisensel N, Butler MG.
    Am J Med Genet A; 2018 Apr 20; 176(4):886-895. PubMed ID: 29437285
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  • 18. Prader-Willi phenotype caused by paternal deficiency for the HBII-85 C/D box small nucleolar RNA cluster.
    Sahoo T, del Gaudio D, German JR, Shinawi M, Peters SU, Person RE, Garnica A, Cheung SW, Beaudet AL.
    Nat Genet; 2008 Jun 20; 40(6):719-21. PubMed ID: 18500341
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  • 19. Highest accuracy of combined consensus clinical criteria and SNRPN gene molecular markers in diagnosis of Prader-Willi syndrome in Thai patients.
    Promkan M, Teingtat S, Stheinkijkarnchai A, Wasant P, Patmasiriwat P.
    Clin Chem Lab Med; 2007 Jun 20; 45(8):972-80. PubMed ID: 17867985
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  • 20. Quantitative analysis of SNRPN(correction of SRNPN) gene methylation by pyrosequencing as a diagnostic test for Prader-Willi syndrome and Angelman syndrome.
    White HE, Durston VJ, Harvey JF, Cross NC.
    Clin Chem; 2006 Jun 20; 52(6):1005-13. PubMed ID: 16574761
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