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3. Broad clinical spectrum in Silver-Russell syndrome and consequences for genetic testing in growth retardation. Eggermann T, Gonzalez D, Spengler S, Arslan-Kirchner M, Binder G, Schönherr N. Pediatrics; 2009 May; 123(5):e929-31. PubMed ID: 19364767 [Abstract] [Full Text] [Related]
4. The centromeric 11p15 imprinting centre is also involved in Silver-Russell syndrome. Schönherr N, Meyer E, Roos A, Schmidt A, Wollmann HA, Eggermann T. J Med Genet; 2007 Jan; 44(1):59-63. PubMed ID: 16963484 [Abstract] [Full Text] [Related]
5. 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 [Abstract] [Full Text] [Related]
9. Russell-Silver syndrome. Eggermann T. Am J Med Genet C Semin Med Genet; 2010 Aug 15; 154C(3):355-64. PubMed ID: 20803658 [Abstract] [Full Text] [Related]
10. Silver-Russell and Beckwith-Wiedemann syndromes: opposite (epi)mutations in 11p15 result in opposite clinical pictures. Eggermann T. Horm Res; 2009 Apr 15; 71 Suppl 2():30-5. PubMed ID: 19407494 [Abstract] [Full Text] [Related]
11. The genetic aetiology of Silver-Russell syndrome. Abu-Amero S, Monk D, Frost J, Preece M, Stanier P, Moore GE. J Med Genet; 2008 Apr 15; 45(4):193-9. PubMed ID: 18156438 [Abstract] [Full Text] [Related]
12. [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 22; 142(29):1561-4. PubMed ID: 11494748 [Abstract] [Full Text] [Related]
13. Epigenetic mutations in 11p15 in Silver-Russell syndrome are restricted to the telomeric imprinting domain. Eggermann T, Schönherr N, Meyer E, Obermann C, Mavany M, Eggermann K, Ranke MB, Wollmann HA. J Med Genet; 2006 Jul 22; 43(7):615-6. PubMed ID: 16236811 [Abstract] [Full Text] [Related]
14. Duplications of chromosome 11p15 of maternal origin result in a phenotype that includes growth retardation. Fisher AM, Thomas NS, Cockwell A, Stecko O, Kerr B, Temple IK, Clayton P. Hum Genet; 2002 Sep 22; 111(3):290-6. PubMed ID: 12215843 [Abstract] [Full Text] [Related]
15. Chromosome 7p disruptions in Silver Russell syndrome: delineating an imprinted candidate gene region. Monk D, Bentley L, Hitchins M, Myler RA, Clayton-Smith J, Ismail S, Price SM, Preece MA, Stanier P, Moore GE. Hum Genet; 2002 Oct 22; 111(4-5):376-87. PubMed ID: 12384779 [Abstract] [Full Text] [Related]
16. The endocrine phenotype in silver-russell syndrome is defined by the underlying epigenetic alteration. Binder G, Seidel AK, Martin DD, Schweizer R, Schwarze CP, Wollmann HA, Eggermann T, Ranke MB. J Clin Endocrinol Metab; 2008 Apr 22; 93(4):1402-7. PubMed ID: 18230663 [Abstract] [Full Text] [Related]
17. 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 22; 36(4):326-9. PubMed ID: 10227403 [Abstract] [Full Text] [Related]
18. Epigenetics in Silver-Russell syndrome. Rossignol S, Netchine I, Le Bouc Y, Gicquel C. Best Pract Res Clin Endocrinol Metab; 2008 Jun 22; 22(3):403-14. PubMed ID: 18538282 [Abstract] [Full Text] [Related]
19. Quantitative analysis of methylation status at 11p15 and 7q21 for the genetic diagnosis of Beckwith-Wiedemann syndrome and Silver-Russell syndrome. Lee BH, Kim GH, Oh TJ, Kim JH, Lee JJ, Choi SH, Lee JY, Kim JM, Choi IH, Kim YM, Choi JH, Yoo HW. J Hum Genet; 2013 Sep 22; 58(9):604-10. PubMed ID: 23803580 [Abstract] [Full Text] [Related]
20. Multilocus methylation analysis in a large cohort of 11p15-related foetal growth disorders (Russell Silver and Beckwith Wiedemann syndromes) reveals simultaneous loss of methylation at paternal and maternal imprinted loci. Azzi S, Rossignol S, Steunou V, Sas T, Thibaud N, Danton F, Le Jule M, Heinrichs C, Cabrol S, Gicquel C, Le Bouc Y, Netchine I. Hum Mol Genet; 2009 Dec 15; 18(24):4724-33. PubMed ID: 19755383 [Abstract] [Full Text] [Related] Page: [Next] [New Search]