| 1 | MEST, SRS7
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| Deletion of the paternal allele of the imprinted MEST/PEG1 region in a patient with Silver-Russell syndrome features.
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| Eggermann T, Spengler S, Begemann M, Binder G, Buiting K, Albrecht B, Spranger S.
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| Clin Genet 81(3):298-300. doi: 10.1111/j.1399-0004.2011.01719.x. Epub 2011 Dec 28. No abstract available.
2012
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| 2 | SRS11, SRS7
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| Epigenetic signatures of Silver-Russell syndrome.
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| Abu-Amero S, Wakeling EL, Preece M, Whittaker J, Stanier P, Moore GE.
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| J Med Genet 47(3):150-4. No abstract available. PMID: 20305090 2010
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| 3 | SRS11, SRS7, UPD7M
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| Epigenotype-phenotype correlations in Silver-Russell syndrome.
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| 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.
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| J Med Genet 47(11):760-8. Epub 2010 Aug 3.PMID: 20685669 2010
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| 4 | SRS11, SRS7
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| Russell-Silver syndrome.
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| Eggermann T.
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| Am J Med Genet C Semin Med Genet 154C(3):355-64. Review.PMID: 20803658 2010
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| 5 | GRB10, SRS7
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| Paternal deletion of Meg1/Grb10 DMR causes maternalization of the Meg1/Grb10 cluster in mouse proximal Chromosome 11 leading to severe pre- and postnatal growth retardation.
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| Shiura H, Nakamura K, Hikichi T, Hino T, Oda K, Suzuki-Migishima R, Kohda T, Kaneko-Ishino T, Ishino F.
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| Hum Mol Genet 18(8):1424-1438 . [Epub 2009 Jan 27] 2009
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| 6 | SRS11, SRS7
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| Broad clinical spectrum in Silver-Russell syndrome and consequences for genetic testing in growth retardation.
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| Eggermann T, Gonzalez D, Spengler S, Arslan-Kirchner M, Binder G, Schönherr N.
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| Pediatrics 123(5):e929-31. Epub 2009 Apr 13.
2009
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| 7 | UPD7M, SRS7, RG7
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| Maternal heterodisomy/isodisomy and paternal supernumerary ring of chromosome 7 in a child with Silver-Russell syndrome.
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| Combi R, Sala E, Villa N, Crosti F, Beccaria L, Cogliardi A, Tenchini ML, Dalprˆ L.
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| Clin Dysmorphol 17(1):35-39. 2008
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| 8 | SRS7, BWS
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| Growth retardation versus overgrowth: Silver-Russell syndrome is genetically opposite to Beckwith-Wiedemann syndrome.
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| Eggermann T, Eggermann K, Schšnherr N.
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| Trends Genet 24(4):195-204. Epub 2008 Mar 7. 2008
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| 9 | SRS7, SRS11
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| The genetic aetiology of Silver-Russell syndrome.
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| Abu-Amero S, Monk D, Frost J, Preece M, Stanier P, Moore GE.
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| J Med Genet 45(4):193-9. Epub 2007 Dec 21. Review. 2008
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| 10 | SRS11, SRS7
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| Maternal uniparental disomy 7 and Silver-Russell syndrome - clinical update and comparison with other subgroups.
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| Kotzot D.
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| Eur J Med Genet 51(5):444-51. Epub 2008 Jul 4.
2008
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| 11 | SRS7, UPD7M
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| Segmental maternal UPD(7q) in Silver-Russell syndrome.
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| Eggermann T, Schönherr N, Jäger S, Spaich C, Ranke MB, Wollmann HA, Binder G.
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| Clin Genet 74(5):486-9. Epub 2008 Aug 12. No abstract available.
2008
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| 12 | GRB10, MEST, SRS7
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| Detection of maternal uniparental disomy at the two imprinted genes on chromosome 7, GRB10 and PEG1/MEST, in a Silver-Russell syndrome patient using methylation-specific PCR assays.
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| Kim Y, Kim SS, Kim G, Park S, Park IS, Yoo HW.
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| Clin Genet 67(3):267-9. No abstract available. 2005
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| 13 | SRS7, UPD7M, HSCR1
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| Trisomy 7 mosaicism, maternal uniparental heterodisomy 7 and Hirschsprung's disease in a child with Silver-Russell syndrome.
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| Flori E, Girodon E, Samama B, Becmeur F, Viville B, Girard-Lemaire F, Doray B, Schluth C, Marcellin L, Boehm N, Goossens M, Pingault V.
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| Eur J Hum Genet 13(9):1013-8. 2005
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| 14 | SRS7, SRS11, SRS17, SRSX
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| Differences in dental and bone maturation in regions with or without hemihypertrophy in two patients with Russell-Silver syndrome.
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| Orbak Z, Orbak R, Kara C, Kavrut F.
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| J Pediatr Endocrinol Metab 18(7):701-10. 2005
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| 15 | CSH1, GRB2, GRB7, SRS17, SRS7
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| Investigation of the GRB2, GRB7, and CSH1 genes as candidates for the Silver-Russell syndrome (SRS) on chromosome 17q.
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| Hitchins MP, Abu-Amero S, Apostolidou S, Monk D, Stanier P, Preece MA, Moore GE.
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| J Med Genet 39(3):E13. No abstract available. 2002
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| 16 | UPD7M, SRS7, GRB10
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| Do patients with maternal uniparental disomy for chromosome 7 have a distinct mild Silver-Russell phenotype?
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| Hannula K, Kere J, Pirinen S, Holmberg C, Lipsanen-Nyman M.
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| J Med Genet 38 : 273-278. 2001
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| 17 | GRB10, SRS7, COPG2, UPD7M
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| A narrow segment of maternal uniparental disomy of chromosome 7q31-qter in Silver-Russell syndrome delimits a candidate gene region.
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| Hannula K, Lipsanen-Nyman M, Kontiokari T, Kere J.
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| Am J Hum Genet 68(1):247-53. 2001
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| 18 | SRS7
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| No evidence of dup(7)(p11.2p13) in Silver-Russell syndrome.
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| Martinez MJ, Binkert F, Schinzel A, Kotzot D.
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| Am J Med Genet 99(4):335-7. No abstract available. 2001
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| 19 | DUP7PP, GRB10, SRS7, UPD7M
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| Duplication of 7p11.2-p13, including GRB10, in Silver-Russell syndrome.
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| Monk D, Wakeling EL, Proud V, Hitchins M, Abu-Amero SN, Stanier P, Preece MA, Moore GE.
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| Am J Hum Genet 66(1):36-46. 2000
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| 20 | SRS7
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| Silver-Russell syndrome and ring chromosome 7.
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| Wakeling EL, Hitchins M, Stanier P, Monk D, Moore GE, Preece MA.
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| J Med Genet 37(5):380. No abstract available. 2000
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| 21 | GRB10, SRS7, UPD7M
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| Imprinting of human GRB10 and its mutations in two patients with Russell-Silver syndrome.
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| Yoshihashi H, Maeyama K, Kosaki R, Ogata T, Tsukahara M, Goto Y, Hata J, Matsuo N, Smith RJ, Kosaki K.
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| Am J Hum Genet 67(2):476-82. Epub 2000 Jun 12. 2000
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| 22 | SRS7, DUP7PP
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| Clinical and molecular findings in two patients with Russell-Silver syndrome and UPD7: Comparison with non-UPD7 cases.
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| Bernard LE, Penaherrera MS, Van Allen MI, Wang MS, Yong SL, Gareis F, Langlois S, Robinson WP.
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| Am J Med Genet 87(3):230-236 1999
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| 23 | SRS7
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| The search for the gene for Silver-Russell syndrome.
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| Moore GE, Abu-Amero S, Wakeling E, Hitchins M, Monk D, Stanier P, Preece M.
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| Acta Paediatr Suppl 88(433):42-8. Review. 1999
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| 24 | DUP7PP, GRB10, SRS7
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| Duplication of 7p12.1-p13, including GRB10 and IGFBP1, in a mother and daughter with features of Silver-Russell syndrome.
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| Joyce CA, Sharp A, Walker JM, Bullman H, Temple IK.
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| Hum Genet 105(3):273-80. 1999
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| 25 | MEST, SRS7, UPD7M
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| Evidence against a major role of PEG1/MEST in Silver-Russell syndrome.
|
| Riesewijk AM, et al.
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| Eur J Hum Genet 6 : 114-120. 1998
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| 26 | UPD7M, SRS7
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| Maternal uniparental disomy 7 in Silver-Russell syndrome.
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| Preece MA, et al.
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| J Med Genet 34 : 6-9. 1997
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| 27 | SRS7
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| Molecular studies in 37 Silver-Russell syndrome patients: frequency and etiology of uniparental disomy.
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| Eggermann T, Wollmann HA, Kuner R, Eggermann K, Enders H, Kaiser P, Ranke MB.
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| Hum Genet 100(3-4):415-9. 1997
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| 28 | SRS7, SRS17, SRSX, DEL15QD, IGF1R
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| Lack of hemizygosity for the insulin-like growth factor I receptor gene in a quantitative study of 33 Silver Russell syndrome probands and their families.
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| Abu-Amero S, Price S, Wakeling E, Stanier P, Trembath R, Preece MA, Moore GE.
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| Eur J Hum Genet 5(4):235-41. 1997
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| 29 | SRS7
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| Silver-Russell syndrome and exclusion of uniparental disomy.
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| Ayala Madrigal ML, et al.
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| Clin Genet 50 : 494-497. 1996
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| 30 | UPD7M, SRS7
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| Uniparental disomy 7 in Silver-Russell syndrome and primordial growth retardation.
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| Kotzot D, et al.
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| Hum Mol Genet 4 : 583-587. 1995
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| 31 | SRS11, SRS7, SRS17
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| Growth and symptoms in Silver-Russell syndrome: review on the basis of 386 patients.
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| Wollmann HA, Kirchner T, Enders H, Preece MA, Ranke MB.
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| Eur J Pediatr 154(12):958-68. 1995
|