| 1 | BWS, SRS11
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| Clinical significance of copy number variations in the 11p15.5 imprinting control regions: new cases and review of the literature.
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| Begemann M, Spengler S, Gogiel M, Grasshoff U, Bonin M, Betz RC, Dufke A, Spier I, Eggermann T.
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| J Med Genet 49(9):547-53. Epub 2012 Jul 26.
2012
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| 2 | SRS11
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| Deletions and rearrangements of the H19/IGF2 enhancer region in patients with Silver-Russell syndrome and growth retardation.
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| Grønskov K, Poole RL, Hahnemann JM, Thomson J, Tümer Z, Brøndum-Nielsen K, Murphy R, Ravn K, Melchior L, Dedic A, Dolmer B, Temple IK, Boonen SE, Mackay DJ.
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| J Med Genet 48(5):308-11. Epub 2011 Jan 28.
2011
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| 3 | SRS11
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| Microduplication of the ICR2 domain at chromosome 11p15 and familial Silver-Russell syndrome.
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| Bonaldi A, Mazzeu JF, Costa SS, Honjo RS, Bertola DR, Albano LM, Furquim IM, Kim CA, Vianna-Morgante AM.
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| Am J Med Genet A m J Med Genet A. 2011 Sep 9. doi: 10.1002/ajmg.a.34023. [Epub ahead of print]
2011
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| 4 | BWS, H19, IGF2, SRS11
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| Disruption of genomic neighbourhood at the imprinted IGF2-H19 locus in Beckwith-Wiedemann syndrome and Silver-Russell syndrome.
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| Nativio R, Sparago A, Ito Y, Weksberg R, Riccio A, Murrell A.
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| Hum Mol Genet 20(7):1363-74. Epub 2011 Jan 31.
2011
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| 5 | 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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| 6 | SRS11
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| Chromosome 11p15 duplication in Silver-Russell syndrome due to a maternally inherited translocation t(11;15).
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| Eggermann T, Spengler S, Bachmann N, Baudis M, Mau-Holzmann UA, Singer S, Rossier E.
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| Am J Med Genet A 152A(6):1484-7.PMID: 20503324 2010
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| 7 | BWS, H19, IGF2, SRS11
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| Analysis of the IGF2/H19 imprinting control region uncovers new genetic defects, including mutations of OCT-binding sequences, in patients with 11p15 fetal growth disorders.
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| Demars J, Shmela ME, Rossignol S, Okabe J, Netchine I, Azzi S, Cabrol S, Le Caignec C, David A, Le Bouc Y, El-Osta A, Gicquel C.
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| Hum Mol Genet 19(5):803-14. Epub 2009 Dec 9.PMID: 20007505 2010
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| 8 | 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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| 9 | 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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| 10 | H19, IGF2, SRS11
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| 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.
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| Bartholdi D, Krajewska-Walasek M, Ounap K, Gaspar H, Chrzanowska KH, Ilyana H, Kayserili H, Lurie IW, Schinzel A, Baumer A.
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| J Med Genet 46(3):192-7. Epub 2008 Dec 9.
2009
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| 11 | H19, KCNQ10T1, SRS11
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| Clinically distinct epigenetic subgroups in Silver-Russell syndrome: the degree of H19 hypomethylation associates with phenotype severity and genital and skeletal anomalies.
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| Bruce S, Hannula-Jouppi K, Peltonen J, Kere J, Lipsanen-Nyman M.
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| J Clin Endocrinol Metab 94(2):579-87. Epub 2008 Nov 18.
2009
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| 12 | 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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| 13 | BWS, SRS11
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| Multilocus methylation analysis in a large cohort of 11p15-related foetal growth disorders (Russell Silver and Beckwith Wiedemann syndromes) reveals simultaneous loss of methylation at paternal and maternal imprinted loci.
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| Azzi S, Rossignol S, Steunou V, Sas T, Thibaud N, Danton F, Le Jule M, Heinrichs C, Cabrol S, Gicquel C, Le Bouc Y, Netchine I.
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| Hum Mol Genet 18(24):4724-33. Epub 2009 Sep 14.
2009
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| 14 | BWS, CDKN1C, IGF2, SRS11
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| Phenotypic discordance upon paternal or maternal transmission of duplications of the 11p15 imprinted regions.
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| Bliek J, Snijder S, Maas SM, Polstra A, van der Lip K, Alders M, Knegt AC, Mannens MM.
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| Eur J Med Genet 52(6):404-8. Epub 2009 Sep 6.
2009
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| 15 | BWS, SRS11, WHS
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| Co-occurrence of 4p16.3 deletions with both paternal and maternal duplications of 11p15: modification of the Wolf-Hirschhorn syndrome phenotype by genetic alterations predicted to result in either a Beckwith-Wiedemann or Russell-Silver phenotype.
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| South ST, Whitby H, Maxwell T, Aston E, Brothman AR, Carey JC.
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| Am J Med Genet A 146A(20):2691-7. 2008
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| 16 | BWS, SRS11
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| Methylation-specific multiplex ligation-dependent probe amplification (MS-MLPA) robustly detects and distinguishes 11p15 abnormalities associated with overgrowth and growth retardation.
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| Scott RH, Douglas J, Baskcomb L, Nygren AO, Birch JM, Cole TR, Cormier-Daire V, Eastwood DM, Garcia-Minaur S, Lupunzina P, Tatton-Brown K, Bliek J, Maher ER, Rahman N.
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| J Med Genet 45(2):106-13. Epub 2007 Oct 15. 2008
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| 17 | IH, SRS11
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| IGF2/H19 hypomethylation in Silver-Russell syndrome and isolated hemihypoplasia.
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| Zeschnigk M, Albrecht B, Buiting K, Kanber D, Eggermann T, Binder G, Gromoll J, Prott EC, Seland S, Horsthemke B.
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| Eur J Hum Genet 16(3):328-34. Epub 2008 Jan 9. 2008
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| 18 | 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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| 19 | 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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| 20 | SRS11
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| Mosaic maternal uniparental disomy of chromosome 11 in a patient with Silver-Russell syndrome.
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| Bullman H, Lever M, Robinson DO, Mackay DJ, Holder SE, Wakeling EL.
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| J Med Genet 45(6):396-9. Epub 2008 May 12.
2008
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| 21 | IGF2, SRS11
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| Molecular and clinical findings and their correlations in Silver-Russell syndrome: implications for a positive role of IGF2 in growth determination and differential imprinting regulation of the IGF2-H19 domain in bodies and placentas.
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| Yamazawa K, Kagami M, Nagai T, Kondoh T, Onigata K, Maeyama K, Hasegawa T, Hasegawa Y, Yamazaki T, Mizuno S, Miyoshi Y, Miyagawa S, Horikawa R, Matsuoka K, Ogata T.
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| J Mol Med 86(10):1171-81. Epub 2008 Jul 8.
2008
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| 22 | SRS11, BWS
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| The centromeric 11p15 imprinting centre is also involved in Silver-Russell syndrome.
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| Schonherr N, Meyer E, Roos A, Schmidt A, Wollmann HA, Eggermann T.
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| J Med Genet 44(1):59-63. Epub 2006 Sep 8. 2007
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| 23 | SRS11
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| 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.
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| 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.
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| J Clin Endocrinol Metab 92(8):3148-54. Epub 2007 May 15. Erratum in: J Clin Endocrinol Metab. 2007 Nov;92(11):4305.
2007
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| 24 | SRS11
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| Epigenetic mutations in 11p15 in Silver-Russell syndrome are restricted to the telomeric imprinting domain.
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| Eggermann T, Schonherr N, Meyer E, Obermann C, Mavany M, Eggermann K, Ranke MB, Wollmann HA.
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| J Med Genet 43(7):615-6. Epub 2005 Oct 19. 2006
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| 25 | UPD6P, UPD7M, SRS11, BWS, UPD14M, UPD14P, UPD16, UPD22, UPDXM,
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| Uniparental disomy (UPD) other than 15: Phenotypes and bibliography updated.
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| Kotzot D, Utermann G.
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| Am J Med Genet A 136(3):287-305. 2005
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| 26 | SRS11
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| Epimutation of the telomeric imprinting center region on chromosome 11p15 in Silver-Russell syndrome.
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| Gicquel C, Rossignol S, Cabrol S, Houang M, Steunou V, Barbu V, Danton F, Thibaud N, Merrer ML, Burglen L, Bertrand AM, Netchine I, Bouc YL.
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| Nat Genet 37(9):1003-7. Epub 2005 Aug 7. 2005
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| 27 | SRS11
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| Is maternal duplication of 11p15 associated with Silver-Russell syndrome?
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| Eggermann T, Meyer E, Obermann C, Heil I, Schuler H, Ranke MB, Eggermann K, Wollmann HA.
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| J Med Genet 42(5):e26. 2005
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| 28 | 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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| 29 | 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
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