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Results: 1 to 20 of 110

1.

[Analysis of clinical and genetic characteristics of 20 cases of children with Silver Russell syndrome].

Zhu MQ, Gong CX, Wu D, Huang SY, Cao BY.

Zhonghua Er Ke Za Zhi. 2013 Mar;51(3):216-20. Chinese.

PMID:
23751585
[PubMed - indexed for MEDLINE]
2.

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;93(4):1402-7. doi: 10.1210/jc.2007-1897. Epub 2008 Jan 29.

PMID:
18230663
[PubMed - indexed for MEDLINE]
3.

Possible association between complex congenital heart defects and 11p15 hypomethylation in three patients with severe Silver-Russell syndrome.

Ghanim M, Rossignol S, Delobel B, Irving M, Miller O, Devisme L, Plennevaux JL, Lucidarme-Rossi S, Manouvrier S, Salah A, Chivu O, Netchine I, Vincent-Delorme C.

Am J Med Genet A. 2013 Mar;161A(3):572-7. doi: 10.1002/ajmg.a.35691. Epub 2013 Feb 7.

PMID:
23401077
[PubMed - indexed for MEDLINE]
4.

Epigenotype-phenotype correlations in Silver-Russell syndrome.

Wakeling EL, Amero SA, Alders M, Bliek J, Forsythe E, Kumar S, Lim DH, MacDonald F, Mackay DJ, Maher ER, Moore GE, Poole RL, Price SM, Tangeraas T, Turner CL, Van Haelst MM, Willoughby C, Temple IK, Cobben JM.

J Med Genet. 2010 Nov;47(11):760-8. doi: 10.1136/jmg.2010.079111. Epub 2010 Aug 3.

PMID:
20685669
[PubMed - indexed for MEDLINE]
Free PMC Article
5.

Silver-Russell syndrome due to paternal H19/IGF2 hypomethylation in a twin girl born after in vitro fertilization.

Cocchi G, Marsico C, Cosentino A, Spadoni C, Rocca A, De Crescenzo A, Riccio A.

Am J Med Genet A. 2013 Oct;161A(10):2652-5. doi: 10.1002/ajmg.a.36145. Epub 2013 Aug 16.

PMID:
24038823
[PubMed - indexed for MEDLINE]
Free PMC Article
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
[PubMed - indexed for MEDLINE]
7.

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.

PMID:
16963484
[PubMed - indexed for MEDLINE]
Free PMC Article
8.

Epigenetic and genetic diagnosis of Silver-Russell syndrome.

Eggermann T, Spengler S, Gogiel M, Begemann M, Elbracht M.

Expert Rev Mol Diagn. 2012 Jun;12(5):459-71. doi: 10.1586/erm.12.43. Review.

PMID:
22702363
[PubMed - indexed for MEDLINE]
9.

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
[PubMed - indexed for MEDLINE]
10.

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
[PubMed - indexed for MEDLINE]
11.

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.

PMID:
20573229
[PubMed - indexed for MEDLINE]
Free PMC Article
12.

11p15 imprinting center region 1 loss of methylation is a common and specific cause of typical Russell-Silver syndrome: clinical scoring system and epigenetic-phenotypic correlations.

Netchine I, Rossignol S, Dufourg MN, Azzi S, Rousseau A, Perin L, Houang M, Steunou V, Esteva B, Thibaud N, Demay MC, Danton F, Petriczko E, Bertrand AM, Heinrichs C, Carel JC, Loeuille GA, Pinto G, Jacquemont ML, Gicquel C, Cabrol S, Le Bouc Y.

J Clin Endocrinol Metab. 2007 Aug;92(8):3148-54. Epub 2007 May 15. Erratum in: J Clin Endocrinol Metab. 2007 Nov;92(11):4305.

PMID:
17504900
[PubMed - indexed for MEDLINE]
13.

Testing of buccal swab DNA does not increase the detection rate for imprinting control region 1 hypomethylation in Silver-Russell syndrome.

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

Genet Test Mol Biomarkers. 2011 Oct;15(10):725-6. doi: 10.1089/gtmb.2011.0013. Epub 2011 May 25.

PMID:
21612428
[PubMed - indexed for MEDLINE]
14.

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. doi: 10.1542/peds.2008-3228. Epub 2009 Apr 13.

PMID:
19364767
[PubMed - indexed for MEDLINE]
Free Article
15.

Silver-Russell syndrome.

Wakeling EL.

Arch Dis Child. 2011 Dec;96(12):1156-61. doi: 10.1136/adc.2010.190165. Epub 2011 Feb 24. Review.

PMID:
21349887
[PubMed - indexed for MEDLINE]
16.

Molecular karyotyping as a relevant diagnostic tool in children with growth retardation with Silver-Russell features.

Spengler S, Begemann M, Ortiz Brüchle N, Baudis M, Denecke B, Kroisel PM, Oehl-Jaschkowitz B, Schulze B, Raabe-Meyer G, Spaich C, Blümel P, Jauch A, Moog U, Zerres K, Eggermann T.

J Pediatr. 2012 Nov;161(5):933-42. doi: 10.1016/j.jpeds.2012.04.045. Epub 2012 Jun 8.

PMID:
22683032
[PubMed - indexed for MEDLINE]
17.

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.

PMID:
21780245
[PubMed - indexed for MEDLINE]
18.

Epigenetics in Silver-Russell syndrome.

Rossignol S, Netchine I, Le Bouc Y, Gicquel C.

Best Pract Res Clin Endocrinol Metab. 2008 Jun;22(3):403-14. doi: 10.1016/j.beem.2008.01.012. Review.

PMID:
18538282
[PubMed - indexed for MEDLINE]
19.

MBD3 mutations are not responsible for ICR1 hypomethylation in Silver-Russell syndrome.

Bachmann N, Spengler S, Binder G, Eggermann T.

Eur J Med Genet. 2010 Jan-Feb;53(1):23-4. doi: 10.1016/j.ejmg.2009.12.002. Epub 2009 Dec 16.

PMID:
20004753
[PubMed - indexed for MEDLINE]
20.

Post-receptor IGF1 insensitivity restricted to the MAPK pathway in a Silver-Russell syndrome patient with hypomethylation at the imprinting control region on chromosome 11.

Montenegro LR, Leal AC, Coutinho DC, Valassi HP, Nishi MY, Arnhold IJ, Mendonca BB, Jorge AA.

Eur J Endocrinol. 2012 Mar;166(3):543-50. doi: 10.1530/EJE-11-0964. Epub 2011 Dec 14.

PMID:
22170793
[PubMed - indexed for MEDLINE]
Free Article

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