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Journal Abstract Search

229 related items for PubMed ID: 8499903

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  • 24. The impact of imprinting: Prader-Willi syndrome resulting from chromosome translocation, recombination, and nondisjunction.
    Toth-Fejel S, Olson S, Gunter K, Quan F, Wolford J, Popovich BW, Magenis RE.
    Am J Hum Genet; 1996 May; 58(5):1008-16. PubMed ID: 8651261
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  • 25. Clinical Utility of Methylation-Specific Multiplex Ligation-Dependent Probe Amplification for the Diagnosis of Prader-Willi Syndrome and Angelman Syndrome.
    Kim B, Park Y, Cho SI, Kim MJ, Chae JH, Kim JY, Seong MW, Park SS.
    Ann Lab Med; 2022 Jan 01; 42(1):79-88. PubMed ID: 34374352
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  • 26. A DNA methylation imprint, determined by the sex of the parent, distinguishes the Angelman and Prader-Willi syndromes.
    Driscoll DJ, Waters MF, Williams CA, Zori RT, Glenn CC, Avidano KM, Nicholls RD.
    Genomics; 1992 Aug 01; 13(4):917-24. PubMed ID: 1505981
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  • 31. A rapid, PCR based test for differential molecular diagnosis of Prader-Willi and Angelman syndromes.
    Chotai KA, Payne SJ.
    J Med Genet; 1998 Jun 01; 35(6):472-5. PubMed ID: 9643288
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  • 32. Nondisjunction of chromosome 15: origin and recombination.
    Robinson WP, Bernasconi F, Mutirangura A, Ledbetter DH, Langlois S, Malcolm S, Morris MA, Schinzel AA.
    Am J Hum Genet; 1993 Sep 01; 53(3):740-51. PubMed ID: 8352279
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  • 33. A molecular and cytogenetic study in Finnish Prader-Willi patients.
    Kokkonen H, Kähkönen M, Leisti J.
    Hum Genet; 1995 May 01; 95(5):568-71. PubMed ID: 7759080
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  • 36. 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 01; 6(3):387-95. PubMed ID: 9147641
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  • 37. Mosaicism for maternal uniparental disomy 15 in a boy with some clinical features of Prader-Willi syndrome.
    Zilina O, Kahre T, Talvik I, Oiglane-Shlik E, Tillmann V, Ounap K.
    Eur J Med Genet; 2014 Mar 01; 57(6):279-83. PubMed ID: 24704109
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  • 38. Physical mapping studies at D15S10: implications for candidate gene identification in the Angelman syndrome/Prader-Willi syndrome chromosome region of 15q11-q13.
    Woodage T, Lindeman R, Deng ZM, Fimmel A, Smith A, Trent RJ.
    Genomics; 1994 Jan 01; 19(1):170-2. PubMed ID: 8188222
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  • 39. Chromosome breakage in the Prader-Willi and Angelman syndromes involves recombination between large, transcribed repeats at proximal and distal breakpoints.
    Amos-Landgraf JM, Ji Y, Gottlieb W, Depinet T, Wandstrat AE, Cassidy SB, Driscoll DJ, Rogan PK, Schwartz S, Nicholls RD.
    Am J Hum Genet; 1999 Aug 01; 65(2):370-86. PubMed ID: 10417280
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