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Items: 1 to 20 of 98

1.

Collagenopathy with a phenotype resembling Silver-Russell syndrome phenotype.

Cianci P, Paterlini G, Tagliabue P, Verderio M, Vergani P, Bianchi ML, Giussani C, Kullmann G, Mazzoleni F, Bozzetti A, Selicorni A.

Am J Med Genet A. 2013 Oct;161A(10):2681-4. doi: 10.1002/ajmg.a.36093. Epub 2013 Aug 5. No abstract available.

PMID:
23918677
2.

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
3.

Hepatomegaly and hyperammonemia in a girl with Silver-Russell syndrome caused by maternal uniparental isodisomy of chromosome 7.

Li CF, Lin HY, Liu HC, Lee SH, Lo MY, Lin SP, Lo FS, Niu DM.

Am J Med Genet A. 2014 Aug;164A(8):2114-7. doi: 10.1002/ajmg.a.36567. Epub 2014 Apr 8. No abstract available.

PMID:
24715348
4.

Atypical Silver-Russell phenotype resulting from maternal uniparental disomy of chromosome 7.

Stark Z, Ryan MM, Bruno DL, Burgess T, Savarirayan R.

Am J Med Genet A. 2010 Sep;152A(9):2342-5. doi: 10.1002/ajmg.a.33590.

PMID:
20684011
5.

[Russell Silver syndrome: report of three cases and review of the literature].

Lamzouri A, Ratbi I, Sefiani A.

Pan Afr Med J. 2013 Mar 8;14:91. doi: 10.11604/pamj.2013.14.91.1645. Print 2013. Review. French. No abstract available.

6.

Prenatal sonographic features of Russell-Silver syndrome.

Wax JR, Burroughs R, Wright MS.

J Ultrasound Med. 1996 Mar;15(3):253-5. No abstract available.

7.

Clinical utility gene card for: Silver-Russell syndrome.

Eggermann T, Buiting K, Temple IK.

Eur J Hum Genet. 2011 Mar;19(3). doi: 10.1038/ejhg.2010.202. Epub 2010 Dec 8. No abstract available.

8.

Dilated cardiomyopathy in a 32-year-old woman with Russell-Silver syndrome.

Ryan TD, Gupta A, Gupta D, Goldenberg P, Taylor MD, Lorts A, Jefferies JL.

Cardiovasc Pathol. 2014 Jan-Feb;23(1):21-7. doi: 10.1016/j.carpath.2013.08.004. Epub 2013 Sep 24.

PMID:
24075556
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.

PMID:
19364767
10.

The first case of Silver-Russell syndrome accompanied by linea alba hernia in China.

Wong KF, Wong WW, Li BX, Song YZ.

Singapore Med J. 2010 Jan;51(1):e9-e11.

11.

[Bilateral optic nerve decompression at infantile-malignant osteopetrosis and Silver-Russell-syndrome].

Müller-Richter JK, Kühnel T, Bloss HG, Driemel O, Müller-Richter UD.

Klin Monbl Augenheilkd. 2011 Nov;228(11):986-90. doi: 10.1055/s-0029-1245891. Epub 2011 Mar 24. German. No abstract available.

PMID:
21437846
12.

Type 1 collagenopathy presenting with a Russell-Silver phenotype.

Parker MJ, Deshpande C, Rankin J, Wilson LC, Balasubramanian M, Hall CM, Wagner BE, Pollitt R, Dalton A, Bishop NJ.

Am J Med Genet A. 2011 Jun;155A(6):1414-8. doi: 10.1002/ajmg.a.33998. Epub 2011 May 12.

PMID:
21567925
13.

Submicroscopic genomic alterations in Silver-Russell syndrome and Silver-Russell-like patients.

Bruce S, Hannula-Jouppi K, Puoskari M, Fransson I, Simola KO, Lipsanen-Nyman M, Kere J.

J Med Genet. 2010 Dec;47(12):816-22. doi: 10.1136/jmg.2009.069427. Epub 2009 Sep 14.

PMID:
19752157
14.

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
15.

Trisomy 7 mosaicism prenatally misdiagnosed and maternal uniparental disomy in a child with pigmentary mosaicism and Russell- Silver syndrome.

Petit F, Holder-Espinasse M, Duban-Bedu B, Bouquillon S, Boute-Benejean O, Bazin A, Rouland V, Manouvrier-Hanu S, Delobel B.

Clin Genet. 2012 Mar;81(3):265-71. doi: 10.1111/j.1399-0004.2010.01621.x. Epub 2011 Jan 19.

PMID:
21204802
16.

Generalized lichen nitidus in Russell-Silver syndrome.

Kanai C, Terao M, Tanemura A, Miyoshi Y, Ozono K, Katayama I.

Pediatr Dermatol. 2013 Jan-Feb;30(1):150-1. doi: 10.1111/j.1525-1470.2011.01613.x. Epub 2012 Feb 14.

PMID:
22329413
17.

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
18.

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.

19.

Infant with growth failure, body asymmetry, and dysmorphic features.

Prasad D, Navarrete V, Naganathan S.

Pediatr Rev. 2013 May;34(5):e17-21. doi: 10.1542/pir.34-5-e17. No abstract available.

PMID:
23637253
20.

Epigenetic signatures of Silver-Russell syndrome.

Abu-Amero S, Wakeling EL, Preece M, Whittaker J, Stanier P, Moore GE.

J Med Genet. 2010 Mar;47(3):150-4. doi: 10.1136/jmg.2009.071316. Review. No abstract available.

PMID:
20305090
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