BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

232 related articles for article (PubMed ID: 10995513)

  • 1. Origin of uniparental disomy 15 in patients with Prader-Willi or Angelman syndrome.
    Fridman C; Koiffmann CP
    Am J Med Genet; 2000 Sep; 94(3):249-53. PubMed ID: 10995513
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Multiplex PCR of three dinucleotide repeats in the Prader-Willi/Angelman critical region (15q11-q13): molecular diagnosis and mechanism of uniparental disomy.
    Mutirangura A; Greenberg F; Butler MG; Malcolm S; Nicholls RD; Chakravarti A; Ledbetter DH
    Hum Mol Genet; 1993 Feb; 2(2):143-51. PubMed ID: 8499903
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Congenital ichthyosis in Prader-Willi syndrome associated with maternal chromosome 15 uniparental disomy: Case report and review of autosomal recessive conditions unmasked by UPD.
    Muthusamy K; Macke EL; Klee EW; Tebben PJ; Hand JL; Hasadsri L; Marcou CA; Schimmenti LA
    Am J Med Genet A; 2020 Oct; 182(10):2442-2449. PubMed ID: 32815268
    [TBL] [Abstract][Full Text] [Related]  

  • 4. The contribution of uniparental disomy to congenital development defects in children born to mothers at advanced childbearing age.
    Ginsburg C; Fokstuen S; Schinzel A
    Am J Med Genet; 2000 Dec; 95(5):454-60. PubMed ID: 11146466
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Somatic segregation errors predominantly contribute to the gain or loss of a paternal chromosome leading to uniparental disomy for chromosome 15.
    Robinson WP; Christian SL; Kuchinka BD; Peñaherrera MS; Das S; Schuffenhauer S; Malcolm S; Schinzel AA; Hassold TJ; Ledbetter DH
    Clin Genet; 2000 May; 57(5):349-58. PubMed ID: 10852369
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Increased parental ages and uniparental disomy 15: a paternal age effect?
    Robinson WP; Lorda-Sanchez I; Malcolm S; Langlois S; Schuffenhauer S; Knoblauch H; Horsthemke B; Schinzel AA
    Eur J Hum Genet; 1993; 1(4):280-6. PubMed ID: 8081941
    [TBL] [Abstract][Full Text] [Related]  

  • 7. 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; 53(3):740-51. PubMed ID: 8352279
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Molecular diagnosis of Prader-Willi and Angelman syndromes by methylation-specific melting analysis and methylation-specific multiplex ligation-dependent probe amplification.
    Procter M; Chou LS; Tang W; Jama M; Mao R
    Clin Chem; 2006 Jul; 52(7):1276-83. PubMed ID: 16690734
    [TBL] [Abstract][Full Text] [Related]  

  • 9. The mechanisms involved in formation of deletions and duplications of 15q11-q13.
    Robinson WP; Dutly F; Nicholls RD; Bernasconi F; Peñaherrera M; Michaelis RC; Abeliovich D; Schinzel AA
    J Med Genet; 1998 Feb; 35(2):130-6. PubMed ID: 9580159
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Why is there no diploid overdose effect in Prader-Willi syndrome due to uniparental disomy?
    Smith A
    Acta Genet Med Gemellol (Roma); 1996; 45(1-2):179-89. PubMed ID: 8872029
    [TBL] [Abstract][Full Text] [Related]  

  • 11. A girl with incomplete Prader-Willi syndrome and negative MS-PCR, found to have mosaic maternal UPD-15 at SNP array.
    Morandi A; Bonnefond A; Lobbens S; Carotenuto M; Del Giudice EM; Froguel P; Maffeis C
    Am J Med Genet A; 2015 Nov; 167A(11):2720-6. PubMed ID: 26109092
    [TBL] [Abstract][Full Text] [Related]  

  • 12. 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
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Maternal disomy and Prader-Willi syndrome consistent with gamete complementation in a case of familial translocation (3;15) (p25;q11.2).
    Park JP; Moeschler JB; Hani VH; Hawk AB; Belloni DR; Noll WW; Mohandas TK
    Am J Med Genet; 1998 Jun; 78(2):134-9. PubMed ID: 9674903
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Uniparental disomy explains the occurrence of the Angelman or Prader-Willi syndrome in patients with an additional small inv dup(15) chromosome.
    Robinson WP; Wagstaff J; Bernasconi F; Baccichetti C; Artifoni L; Franzoni E; Suslak L; Shih LY; Aviv H; Schinzel AA
    J Med Genet; 1993 Sep; 30(9):756-60. PubMed ID: 8411071
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Clinical Application of an Innovative Multiplex-Fluorescent-Labeled STRs Assay for Prader-Willi Syndrome and Angelman Syndrome.
    Zhang K; Liu S; Feng B; Yang Y; Zhang H; Dong R; Liu Y; Gai Z
    PLoS One; 2016; 11(2):e0147824. PubMed ID: 26841067
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Sex-specific meiotic recombination in the Prader--Willi/Angelman syndrome imprinted region.
    Robinson WP; Lalande M
    Hum Mol Genet; 1995 May; 4(5):801-6. PubMed ID: 7633438
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Genomic imprinting: potential function and mechanisms revealed by the Prader-Willi and Angelman syndromes.
    Glenn CC; Driscoll DJ; Yang TP; Nicholls RD
    Mol Hum Reprod; 1997 Apr; 3(4):321-32. PubMed ID: 9237260
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Prader-Willi syndrome with a karyotype 47,XY,+min(15)(pter->q11.1:) and maternal UPD 15--case report plus review of similar cases.
    Liehr T; Brude E; Gillessen-Kaesbach G; König R; Mrasek K; von Eggeling F; Starke H
    Eur J Med Genet; 2005; 48(2):175-81. PubMed ID: 16053909
    [TBL] [Abstract][Full Text] [Related]  

  • 19. The proportion of uniparental disomy is increased in Prader-Willi syndrome due to an advanced maternal childbearing age in Korea.
    Cho SY; Ki CS; Sohn YB; Maeng SH; Jung YJ; Kim SJ; Jin DK
    J Hum Genet; 2013 Mar; 58(3):150-4. PubMed ID: 23303386
    [TBL] [Abstract][Full Text] [Related]  

  • 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; 35(6):472-5. PubMed ID: 9643288
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 12.