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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. 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]
4. 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]
5. 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]
6. 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]
7. Mosaic trisomy 22: a case presentation and literature review of trisomy 22 phenotypes. Crowe CA; Schwartz S; Black CJ; Jaswaney V Am J Med Genet; 1997 Sep; 71(4):406-13. PubMed ID: 9286446 [TBL] [Abstract][Full Text] [Related]
8. 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]
9. Centromeric DNA break in a 10;16 reciprocal translocation associated with trisomy 16 confined placental mosaicism and maternal uniparental disomy for chromosome 16. Wang JC; Mamunes P; Kou SY; Schmidt J; Mao R; Hsu WT Am J Med Genet; 1998 Dec; 80(4):418-22. PubMed ID: 9856575 [TBL] [Abstract][Full Text] [Related]
10. 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]
11. Dilemma of trisomy 20 mosaicism detected prenatally: is it an innocent finding? Reish O; Wolach B; Amiel A; Kedar I; Dolfin T; Fejgin M Am J Med Genet; 1998 Apr; 77(1):72-5. PubMed ID: 9557898 [TBL] [Abstract][Full Text] [Related]
13. Maternal uniparental isodisomy 10 and mosaicism for an additional marker chromosome derived from the paternal chromosome 10 in a fetus. Schlegel M; Baumer A; Riegel M; Wiedemann U; Schinzel A Prenat Diagn; 2002 May; 22(5):418-21. PubMed ID: 12001199 [TBL] [Abstract][Full Text] [Related]
14. 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]
15. Confined placental mosaicism for trisomy 14 and maternal uniparental disomy in association with elevated second trimester maternal serum human chorionic gonadotrophin and third trimester fetal growth restriction. Towner DR; Shaffer LG; Yang SP; Walgenbach DD Prenat Diagn; 2001 May; 21(5):395-8. PubMed ID: 11360282 [TBL] [Abstract][Full Text] [Related]
16. Maternal uniparental disomy for chromosome 2 in association with confined placental mosaicism for trisomy 2 and severe intrauterine growth retardation. Webb AL; Sturgiss S; Warwicker P; Robson SC; Goodship JA; Wolstenholme J Prenat Diagn; 1996 Oct; 16(10):958-62. PubMed ID: 8938070 [TBL] [Abstract][Full Text] [Related]
17. Variable clinical expression of mosaic trisomy 16 in the newborn infant. Devi AS; Velinov M; Kamath MV; Eisenfeld L; Neu R; Ciarleglio L; Greenstein R; Benn P Am J Med Genet; 1993 Aug; 47(2):294-8. PubMed ID: 8213923 [TBL] [Abstract][Full Text] [Related]
18. A phenotypically normal liveborn male after prenatal diagnosis of trisomy 20 mosaicism. Von Beust G; Bartels I; Zoll B Genet Couns; 2003; 14(1):67-74. PubMed ID: 12725591 [TBL] [Abstract][Full Text] [Related]
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20. Origin of amnion and implications for evaluation of the fetal genotype in cases of mosaicism. Robinson WP; McFadden DE; Barrett IJ; Kuchinka B; Peñaherrera MS; Bruyère H; Best RG; Pedreira DA; Langlois S; Kalousek DK Prenat Diagn; 2002 Dec; 22(12):1076-85. PubMed ID: 12454962 [TBL] [Abstract][Full Text] [Related] [Next] [New Search]