Format
Sort by
Items per page

Send to

Choose Destination

Links from PubMed

Items: 1 to 20 of 247

1.

Growth retardation versus overgrowth: Silver-Russell syndrome is genetically opposite to Beckwith-Wiedemann syndrome.

Eggermann T, Eggermann K, Schönherr N.

Trends Genet. 2008 Apr;24(4):195-204. doi: 10.1016/j.tig.2008.01.003. Epub 2008 Mar 7. Review.

PMID:
18329128
2.

Epigenetic regulation of growth: lessons from Silver-Russell syndrome.

Eggermann T.

Endocr Dev. 2009;14:10-9. doi: 10.1159/000207472. Epub 2009 Feb 27. Review.

PMID:
19293571
3.

Silver-Russell and Beckwith-Wiedemann syndromes: opposite (epi)mutations in 11p15 result in opposite clinical pictures.

Eggermann T.

Horm Res. 2009 Apr;71 Suppl 2:30-5. doi: 10.1159/000192433. Epub 2009 Apr 29. Review.

PMID:
19407494
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. Epub 2006 Sep 8.

5.

Epigenetic deregulation of imprinting in congenital diseases of aberrant growth.

Delaval K, Wagschal A, Feil R.

Bioessays. 2006 May;28(5):453-9. Review.

PMID:
16615080
6.

(Epi)mutations in 11p15 significantly contribute to Silver-Russell syndrome: but are they generally involved in growth retardation?

Schönherr N, Meyer E, Eggermann K, Ranke MB, Wollmann HA, Eggermann T.

Eur J Med Genet. 2006 Sep-Oct;49(5):414-8. Epub 2006 Mar 29.

PMID:
16603426
7.

ICR1 epimutations in llp15 are restricted to patients with Silver-Russell syndrome features.

Eggermann T, Meyer E, Caglayan AO, Dundar M, Schönherr N.

J Pediatr Endocrinol Metab. 2008 Jan;21(1):59-62.

PMID:
18404973
8.

Epigenetic and genetic mechanisms of abnormal 11p15 genomic imprinting in Silver-Russell and Beckwith-Wiedemann syndromes.

Demars J, Le Bouc Y, El-Osta A, Gicquel C.

Curr Med Chem. 2011;18(12):1740-50.

PMID:
21466477
9.

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. doi: 10.1093/hmg/ddp435. Epub 2009 Sep 14.

PMID:
19755383
10.

Imprinted anomalies in fetal and childhood growth disorders: the model of Russell-Silver and Beckwith-Wiedemann syndromes.

Netchine I, Rossignol S, Azzi S, Brioude F, Le Bouc Y.

Endocr Dev. 2012;23:60-70. doi: 10.1159/000341750. Epub 2012 Nov 23.

PMID:
23182821
11.

Beckwith-Wiedemann and Silver-Russell syndromes: opposite developmental imbalances in imprinted regulators of placental function and embryonic growth.

Jacob KJ, Robinson WP, Lefebvre L.

Clin Genet. 2013 Oct;84(4):326-34. doi: 10.1111/cge.12143. Epub 2013 Apr 9. Review.

PMID:
23495910
12.

Genomic imprinting in disorders of growth.

Lindgren V.

Endocrinol Metab Clin North Am. 1996 Sep;25(3):503-21. Review.

PMID:
8879984
13.

Are H19 variants associated with Silver-Russell syndrome?

Schönherr N, Binder G, Korsch E, Kämmerer E, Wollmann HA, Eggermann T.

J Pediatr Endocrinol Metab. 2008 Oct;21(10):985-93.

PMID:
19209620
14.

Evidence against a major role of PEG1/MEST in Silver-Russell syndrome.

Riesewijk AM, Blagitko N, Schinzel AA, Hu L, Schulz U, Hamel BC, Ropers HH, Kalscheuer VM.

Eur J Hum Genet. 1998 Mar-Apr;6(2):114-20.

15.

Allele-specific methylated multiplex real-time quantitative PCR (ASMM RTQ-PCR), a powerful method for diagnosing loss of imprinting of the 11p15 region in Russell Silver and Beckwith Wiedemann syndromes.

Azzi S, Steunou V, Rousseau A, Rossignol S, Thibaud N, Danton F, Le Jule M, Gicquel C, Le Bouc Y, Netchine I.

Hum Mutat. 2011 Feb;32(2):249-58. doi: 10.1002/humu.21403.

PMID:
21280150
16.

No evidence for additional imprinting defects in Silver-Russell syndrome patients with maternal uniparental disomy 7 or 11p15 epimutation.

Schönherr N, Meyer E, Binder G, Wollmann HA, Eggermann T.

J Pediatr Endocrinol Metab. 2007 Dec;20(12):1329-31.

PMID:
18341093
17.

Epigenetic and genetic disturbance of the imprinted 11p15 region in Beckwith-Wiedemann and Silver-Russell syndromes.

Demars J, Gicquel C.

Clin Genet. 2012 Apr;81(4):350-61. doi: 10.1111/j.1399-0004.2011.01822.x. Epub 2012 Jan 16. Review.

PMID:
22150955
18.

Silver-Russell syndrome and its genetic origins.

Rossignol S.

J Endocrinol Invest. 2006;29(1 Suppl):9-10. Review.

PMID:
16615300
19.

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;43(7):615-6. Epub 2005 Oct 19.

20.

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.

Supplemental Content

Support Center