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Items: 1 to 20 of 149

1.

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.

2.

(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
3.

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.

4.

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
5.

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
6.

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
7.

Epimutation of the telomeric imprinting center region on chromosome 11p15 in Silver-Russell syndrome.

Gicquel C, Rossignol S, Cabrol S, Houang M, Steunou V, Barbu V, Danton F, Thibaud N, Le Merrer M, Burglen L, Bertrand AM, Netchine I, Le Bouc Y.

Nat Genet. 2005 Sep;37(9):1003-7. Epub 2005 Aug 7.

PMID:
16086014
8.

New insights into the pathogenesis of Beckwith-Wiedemann and Silver-Russell syndromes: contribution of small copy number variations to 11p15 imprinting defects.

Demars J, Rossignol S, Netchine I, Lee KS, Shmela M, Faivre L, Weill J, Odent S, Azzi S, Callier P, Lucas J, Dubourg C, Andrieux J, Le Bouc Y, El-Osta A, Gicquel C.

Hum Mutat. 2011 Oct;32(10):1171-82. doi: 10.1002/humu.21558. Epub 2011 Sep 8.

9.

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
10.

Analysis of the IGF2/H19 imprinting control region uncovers new genetic defects, including mutations of OCT-binding sequences, in patients with 11p15 fetal growth disorders.

Demars J, Shmela ME, Rossignol S, Okabe J, Netchine I, Azzi S, Cabrol S, Le Caignec C, David A, Le Bouc Y, El-Osta A, Gicquel C.

Hum Mol Genet. 2010 Mar 1;19(5):803-14. doi: 10.1093/hmg/ddp549. Epub 2009 Dec 9.

PMID:
20007505
11.

Is maternal duplication of 11p15 associated with Silver-Russell syndrome?

Eggermann T, Meyer E, Obermann C, Heil I, Schüler H, Ranke MB, Eggermann K, Wollmann HA.

J Med Genet. 2005 May;42(5):e26.

12.

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
13.

Additional molecular findings in 11p15-associated imprinting disorders: an urgent need for multi-locus testing.

Eggermann T, Heilsberg AK, Bens S, Siebert R, Beygo J, Buiting K, Begemann M, Soellner L.

J Mol Med (Berl). 2014 Jul;92(7):769-77.

PMID:
24658748
14.

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
15.

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
16.

Use of multiplex ligation-dependent probe amplification increases the detection rate for 11p15 epigenetic alterations in Silver-Russell syndrome.

Eggermann T, Schönherr N, Eggermann K, Buiting K, Ranke MB, Wollmann HA, Binder G.

Clin Genet. 2008 Jan;73(1):79-84. Epub 2007 Dec 7.

PMID:
18070127
17.

Tumor development in the Beckwith-Wiedemann syndrome is associated with a variety of constitutional molecular 11p15 alterations including imprinting defects of KCNQ1OT1.

Weksberg R, Nishikawa J, Caluseriu O, Fei YL, Shuman C, Wei C, Steele L, Cameron J, Smith A, Ambus I, Li M, Ray PN, Sadowski P, Squire J.

Hum Mol Genet. 2001 Dec 15;10(26):2989-3000.

PMID:
11751681
18.

Microduplication of the ICR2 domain at chromosome 11p15 and familial Silver-Russell syndrome.

Bonaldi A, Mazzeu JF, Costa SS, Honjo RS, Bertola DR, Albano LM, Furquim IM, Kim CA, Vianna-Morgante AM.

Am J Med Genet A. 2011 Oct;155A(10):2479-83. doi: 10.1002/ajmg.a.34023. Epub 2011 Sep 9.

PMID:
21910219
19.

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
20.

Silver-Russell syndrome: genetic basis and molecular genetic testing.

Eggermann T, Begemann M, Binder G, Spengler S.

Orphanet J Rare Dis. 2010 Jun 23;5:19. doi: 10.1186/1750-1172-5-19. Review.

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