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Results: 1 to 20 of 155

Similar articles for PubMed (Select 20573229)

1.

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.

2.

Russell-Silver syndrome.

Eggermann T.

Am J Med Genet C Semin Med Genet. 2010 Aug 15;154C(3):355-64. doi: 10.1002/ajmg.c.30274. Review.

PMID:
20803658
3.

Genetic and epigenetic findings in Silver-Russell syndrome.

Eggermann T, Begemann M, Spengler S, Schröder C, Kordass U, Binder G.

Pediatr Endocrinol Rev. 2010 Dec;8(2):86-93. Review.

PMID:
21150838
4.

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
5.

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
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.

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
8.

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
9.

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.

10.

Chromosomal rearrangements in patients with clinical features of Silver-Russell syndrome.

Fokstuen S, Kotzot D.

Am J Med Genet A. 2014 Jun;164A(6):1595-605. doi: 10.1002/ajmg.a.36464. Epub 2014 Mar 24.

PMID:
24664587
11.

Silver-Russell syndrome.

Binder G, Begemann M, Eggermann T, Kannenberg K.

Best Pract Res Clin Endocrinol Metab. 2011 Feb;25(1):153-60. doi: 10.1016/j.beem.2010.06.005.

PMID:
21396582
12.

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
13.

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
14.

Submicroscopic chromosomal imbalances in idiopathic Silver-Russell syndrome (SRS): the SRS phenotype overlaps with the 12q14 microdeletion syndrome.

Spengler S, Schönherr N, Binder G, Wollmann HA, Fricke-Otto S, Mühlenberg R, Denecke B, Baudis M, Eggermann T.

J Med Genet. 2010 May;47(5):356-60. doi: 10.1136/jmg.2009.070052. Epub 2009 Sep 16.

PMID:
19762329
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
16.

Silver-Russell syndrome due to maternal uniparental disomy 7 and a familial reciprocal translocation t(7;13).

Behnecke A, Hinderhofer K, Jauch A, Janssen JW, Moog U.

Clin Genet. 2012 Nov;82(5):494-8. doi: 10.1111/j.1399-0004.2011.01792.x. Epub 2011 Oct 19.

PMID:
21954990
17.

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
18.

Multiple segmental uniparental disomy associated with abnormal DNA methylation of imprinted Loci in silver-russell syndrome.

Dias RP, Bogdarina I, Cazier JB, Buchanan C, Donaldson MC, Johnston LB, Hokken-Koelega AC, Clark AJ.

J Clin Endocrinol Metab. 2012 Nov;97(11):E2188-93. doi: 10.1210/jc.2012-1980. Epub 2012 Aug 31.

PMID:
22942387
19.

Segmental maternal uniparental disomy 7q associated with DLK1/GTL2 (14q32) hypomethylation.

Begemann M, Spengler S, Kordass U, Schröder C, Eggermann T.

Am J Med Genet A. 2012 Feb;158A(2):423-8. doi: 10.1002/ajmg.a.34412. Epub 2012 Jan 13.

PMID:
22246686
20.

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
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