BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

401 related articles for article (PubMed ID: 15915162)

  • 1. Trisomy 7 mosaicism, maternal uniparental heterodisomy 7 and Hirschsprung's disease in a child with Silver-Russell syndrome.
    Flori E; Girodon E; Samama B; Becmeur F; Viville B; Girard-Lemaire F; Doray B; Schluth C; Marcellin L; Boehm N; Goossens M; Pingault V
    Eur J Hum Genet; 2005 Sep; 13(9):1013-8. PubMed ID: 15915162
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Clinical outcome and follow-up of the first reported case of Russell-Silver syndrome with the unique combination of maternal uniparental heterodisomy 7 and mosaic trisomy 7.
    Font-Montgomery E; Stone KM; Weaver DD; Vance GH; Das S; Thurston VC
    Birth Defects Res A Clin Mol Teratol; 2005 Aug; 73(8):577-82. PubMed ID: 16007591
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Trisomy 7 mosaicism prenatally misdiagnosed and maternal uniparental disomy in a child with pigmentary mosaicism and Russell- Silver syndrome.
    Petit F; Holder-Espinasse M; Duban-Bedu B; Bouquillon S; Boute-Benejean O; Bazin A; Rouland V; Manouvrier-Hanu S; Delobel B
    Clin Genet; 2012 Mar; 81(3):265-71. PubMed ID: 21204802
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Evidence from skewed X inactivation for trisomy mosaicism in Silver-Russell syndrome.
    Sharp A; Moore G; Eggermann T
    Eur J Hum Genet; 2001 Dec; 9(12):887-91. PubMed ID: 11840189
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Neonatal Silver-Russell syndrome with maternal uniparental heterodisomy, trisomy 7 mosaicism, and dysplasia of the cerebellum.
    Abdelhedi F; El Khattabi L; Cuisset L; Tsatsaris V; Viot G; Druart L; Lebbar A; Dupont JM
    Am J Clin Pathol; 2014 Aug; 142(2):248-53. PubMed ID: 25015868
    [TBL] [Abstract][Full Text] [Related]  

  • 6. [Uniparental disomy 7 in the pathogenesis of Silver-Russell syndrome].
    Mergenthaler S; Dobos M; Wollmann H; Eggermann K; Schwanitz G; Eggermann T
    Orv Hetil; 2001 Jul; 142(29):1561-4. PubMed ID: 11494748
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Mosaic maternal uniparental disomy of chromosome 11 in a patient with Silver-Russell syndrome.
    Bullman H; Lever M; Robinson DO; Mackay DJ; Holder SE; Wakeling EL
    J Med Genet; 2008 Jun; 45(6):396-9. PubMed ID: 18474587
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Mosaic trisomy 17 in amniocytes: phenotypic outcome, tissue distribution, and uniparental disomy studies.
    Genuardi M; Tozzi C; Pomponi MG; Stagni ML; Della Monica M; Scarano G; Calvieri F; Torrisi L; Neri G
    Eur J Hum Genet; 1999; 7(4):421-6. PubMed ID: 10352932
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Maternal uniparental disomy 14 dissection of the phenotype with respect to rare autosomal recessively inherited traits, trisomy mosaicism, and genomic imprinting.
    Kotzot D
    Ann Genet; 2004; 47(3):251-60. PubMed ID: 15337470
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Myoclonus-dystonia due to maternal uniparental disomy.
    Guettard E; Portnoi MF; Lohmann-Hedrich K; Keren B; Rossignol S; Winkler S; El Kamel I; Leu S; Apartis E; Vidailhet M; Klein C; Roze E
    Arch Neurol; 2008 Oct; 65(10):1380-5. PubMed ID: 18852357
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Prenatal diagnosis of Prader-Willi syndrome using PW71 methylation analysis--uniparental disomy and the significance of residual trisomy 15.
    Slater HR; Vaux C; Pertile M; Burgess T; Petrovic V
    Prenat Diagn; 1997 Feb; 17(2):109-13. PubMed ID: 9061757
    [TBL] [Abstract][Full Text] [Related]  

  • 12. 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]  

  • 13. Maternal repression of the human GRB10 gene in the developing central nervous system; evaluation of the role for GRB10 in Silver-Russell syndrome.
    Hitchins MP; Monk D; Bell GM; Ali Z; Preece MA; Stanier P; Moore GE
    Eur J Hum Genet; 2001 Feb; 9(2):82-90. PubMed ID: 11313740
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Evidence for imprinting on chromosome 16: the effect of uniparental disomy on the outcome of mosaic trisomy 16 pregnancies.
    Yong PJ; Marion SA; Barrett IJ; Kalousek DK; Robinson WP
    Am J Med Genet; 2002 Oct; 112(2):123-32. PubMed ID: 12244544
    [TBL] [Abstract][Full Text] [Related]  

  • 15. An analysis of the distribution of hetero- and isodisomic regions of chromosome 7 in five mUPD7 Silver-Russell syndrome probands.
    Preece MA; Abu-Amero SN; Ali Z; Abu-Amero KK; Wakeling EL; Stanier P; Moore GE
    J Med Genet; 1999 Jun; 36(6):457-60. PubMed ID: 10874633
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Trisomy 7 mosaicism at amniocentesis: interphase FISH, QF-PCR, and aCGH analyses on uncultured amniocytes for rapid distinguishing of true mosaicism from pseudomosaicism.
    Chen CP; Huang HK; Su YN; Chern SR; Su JW; Lee CC; Town DD; Chen WL; Chen YT; Wang W
    Taiwan J Obstet Gynecol; 2012 Mar; 51(1):77-82. PubMed ID: 22482973
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Trisomy 15 mosaicism and uniparental disomy (UPD) in a liveborn infant.
    Milunsky JM; Wyandt HE; Huang XL; Kang XZ; Elias ER; Milunsky A
    Am J Med Genet; 1996 Jan; 61(3):269-73. PubMed ID: 8741873
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Maternal uniparental disomy 16 and genetic counseling: new case and survey of published cases.
    Eggermann T; Curtis M; Zerres K; Hughes HE
    Genet Couns; 2004; 15(2):183-90. PubMed ID: 15287418
    [TBL] [Abstract][Full Text] [Related]  

  • 19. 47,XX,UPD(7)mat,+r(7)pat/46,XX,UPD(7)mat mosaicism in a girl with Silver-Russell syndrome (SRS): possible exclusion of the putative SRS gene from a 7p13-q11 region.
    Miyoshi O; Kondoh T; Taneda H; Otsuka K; Matsumoto T; Niikawa N
    J Med Genet; 1999 Apr; 36(4):326-9. PubMed ID: 10227403
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Maternal uniparental disomy of chromosome 2 in a baby with trisomy 2 mosaicism in amniotic fluid culture.
    Harrison K; Eisenger K; Anyane-Yeboa K; Brown S
    Am J Med Genet; 1995 Aug; 58(2):147-51. PubMed ID: 8533806
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 21.