Format
Items per page
Sort by

Send to:

Choose Destination

Results: 1 to 20 of 112

Similar articles for PubMed (Select 23812911)

1.

Comparison of the clinical scoring systems in Silver-Russell syndrome and development of modified diagnostic criteria to guide molecular genetic testing.

Dias RP, Nightingale P, Hardy C, Kirby G, Tee L, Price S, Macdonald F, Barrett TG, Maher ER.

J Med Genet. 2013 Sep;50(9):635-9. doi: 10.1136/jmedgenet-2013-101693. Epub 2013 Jun 28.

PMID:
23812911
2.

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;58(9):604-10. doi: 10.1038/jhg.2013.67. Epub 2013 Jun 27.

PMID:
23803580
3.

Molecular and clinical studies in 138 Japanese patients with Silver-Russell syndrome.

Fuke T, Mizuno S, Nagai T, Hasegawa T, Horikawa R, Miyoshi Y, Muroya K, Kondoh T, Numakura C, Sato S, Nakabayashi K, Tayama C, Hata K, Sano S, Matsubara K, Kagami M, Yamazawa K, Ogata T.

PLoS One. 2013;8(3):e60105. doi: 10.1371/journal.pone.0060105. Epub 2013 Mar 22.

4.

Genome-wide methylation analysis in Silver-Russell syndrome patients.

Prickett AR, Ishida M, Böhm S, Frost JM, Puszyk W, Abu-Amero S, Stanier P, Schulz R, Moore GE, Oakey RJ.

Hum Genet. 2015 Mar;134(3):317-32. doi: 10.1007/s00439-014-1526-1. Epub 2015 Jan 7.

PMID:
25563730
5.

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
6.

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.

7.

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
8.

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
9.

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.

10.

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.

11.

Clinically distinct epigenetic subgroups in Silver-Russell syndrome: the degree of H19 hypomethylation associates with phenotype severity and genital and skeletal anomalies.

Bruce S, Hannula-Jouppi K, Peltonen J, Kere J, Lipsanen-Nyman M.

J Clin Endocrinol Metab. 2009 Feb;94(2):579-87. doi: 10.1210/jc.2008-1805. Epub 2008 Nov 18.

PMID:
19017756
12.

Epigenetic mutations of the imprinted IGF2-H19 domain in Silver-Russell syndrome (SRS): results from a large cohort of patients with SRS and SRS-like phenotypes.

Bartholdi D, Krajewska-Walasek M, Ounap K, Gaspar H, Chrzanowska KH, Ilyana H, Kayserili H, Lurie IW, Schinzel A, Baumer A.

J Med Genet. 2009 Mar;46(3):192-7. doi: 10.1136/jmg.2008.061820. Epub 2008 Dec 9.

PMID:
19066168
13.

Epigenetic profiling of the H19 differentially methylated region and comprehensive whole genome array-based analysis in Silver-Russell syndrome.

Lin SY, Lee CN, Hung CC, Tsai WY, Lin SP, Li NC, Hsieh WS, Tung YC, Niu DM, Hsu WM, Chen LY, Fang MY, Tu MP, Kuo PW, Lin CY, Su YN, Ho HN.

Am J Med Genet A. 2010 Oct;152A(10):2521-8. doi: 10.1002/ajmg.a.33629.

PMID:
20830799
14.
15.

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.

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.

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
18.

Diagnostic proceeding in Silver-Russell syndrome.

Eggermann T, Meyer E, Ranke MB, Holder M, Spranger S, Zerres K, Wollmann HA.

Mol Diagn. 2005;9(4):205-9.

PMID:
16392900
19.

Epimutations of the IG-DMR and the MEG3-DMR at the 14q32.2 imprinted region in two patients with Silver-Russell syndrome-compatible phenotype.

Kagami M, Mizuno S, Matsubara K, Nakabayashi K, Sano S, Fuke T, Fukami M, Ogata T.

Eur J Hum Genet. 2014 Nov 5. doi: 10.1038/ejhg.2014.234. [Epub ahead of print]

PMID:
25351781
20.

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
Format
Items per page
Sort by

Send to:

Choose Destination

Supplemental Content

Write to the Help Desk