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Journal Abstract Search

211 related items for PubMed ID: 8456836

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  • 2. Robertsonian (15q;15q) translocation in a child with Angelman syndrome: evidence of uniparental disomy.
    Tonk V, Schultz RA, Christian SL, Kubota T, Ledbetter DH, Wilson GN.
    Am J Med Genet; 1996 Dec 30; 66(4):426-8. PubMed ID: 8989460
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  • 3. Paternal uniparental disomy of chromosome 15 in a child with Angelman syndrome.
    Nicholls RD, Pai GS, Gottlieb W, Cantú ES.
    Ann Neurol; 1992 Oct 30; 32(4):512-8. PubMed ID: 1360787
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  • 4. Difficulties of genetic counseling and prenatal diagnosis in a consanguineous couple segregating for the same translocation (14;15) (q11;q13) and at risk for Prader-Willi and Angelman syndromes.
    Flori E, Biancalana V, Girard-Lemaire F, Favre R, Flori J, Doray B, Mandel JL.
    Eur J Hum Genet; 2004 Mar 30; 12(3):181-6. PubMed ID: 14694357
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  • 8. Prader-Willi syndrome due to uniparental disomy in a patient with a balanced chromosomal translocation.
    Calounova G, Novotna D, Simandlova M, Havlovicova M, Zumrová A, Kocarek E, Sedlacek Z.
    Neuro Endocrinol Lett; 2006 Oct 30; 27(5):579-85. PubMed ID: 17159828
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  • 9. [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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  • 10. Screening for genomic rearrangements and methylation abnormalities of the 15q11-q13 region in autism spectrum disorders.
    Depienne C, Moreno-De-Luca D, Heron D, Bouteiller D, Gennetier A, Delorme R, Chaste P, Siffroi JP, Chantot-Bastaraud S, Benyahia B, Trouillard O, Nygren G, Kopp S, Johansson M, Rastam M, Burglen L, Leguern E, Verloes A, Leboyer M, Brice A, Gillberg C, Betancur C.
    Biol Psychiatry; 2009 Aug 15; 66(4):349-59. PubMed ID: 19278672
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  • 18. Characterization of a DNA sequence family in the Prader-Willi/Angelman syndrome chromosome region in 15q11-q13.
    Dittrich B, Knoblauch H, Buiting K, Horsthemke B.
    Genomics; 1993 Apr 15; 16(1):269-71. PubMed ID: 8486372
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  • 20. Molecular diagnosis of the Prader-Willi and Angelman syndromes by detection of parent-of-origin specific DNA methylation in 15q11-13.
    Dittrich B, Robinson WP, Knoblauch H, Buiting K, Schmidt K, Gillessen-Kaesbach G, Horsthemke B.
    Hum Genet; 1992 Nov 15; 90(3):313-5. PubMed ID: 1487250
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