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1
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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, Schüler HM, Ranke MB, Eggermann K, Wollmann HA. 2005. Is maternal duplication of 11p15 associated with Silver-Russell syndrome? J Med Genet 42:e26.
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Eggermann, T.1
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Eggermann, K.7
Wollmann, H.A.8
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Use of multiplex ligation-dependent probe amplification increases the detection rate for 11p15 epigenetic alterations in Silver-Russell syndrome
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DOI 10.1111/j.1399-0004.2007.00930.x
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Eggermann T, Sch€onherr N, Eggermann K, Buiting K, Ranke MB, Wollmann HA, Binder G. 2007. Use of multiplex ligation-dependent probe amplification increases the detection rate for 11p15 epigenetic alterations in Silver-Russell syndrome. Clin Genet 73:79-84. (Pubitemid 350263525)
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Wollmann, H.A.6
Binder, G.7
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3
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Duplications of chromosome 11p15 of maternal origin result in a phenotype that includes growth retardation
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DOI 10.1007/s00439-002-0787-2
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Fisher AM, Thomas NS, Cockwell A, Stecko O, Kerr B, Temple IK, Clayton P. 2002. Duplications of chromosome 11p15 of maternal origin result in a phenotype that includes growth retardation. Hum Genet 111:290-296. (Pubitemid 36075052)
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4
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Epimutation of the telomeric imprinting center region on chromosome 11p15 in Silver-Russell syndrome
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DOI 10.1038/ng1629, PII NG1629
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Gicquel C, Rossignol S, Cabrol S, Houang M, Steunou V, Barbu V, Danton F, Thibaud N, Le MM, Burglen L, Bertrand AM, Netchine I, Le Bouc Y. 2005. Epimutation of the telomeric imprinting center region on chromosome 11p15 in Silver-Russell syndrome. Nat Genet 37:1003-1007. (Pubitemid 43086160)
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Maternal uniparental disomy 7 and Silver-Russell syndrome - Clinical update and comparison with other subgroups
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11p15 ICR1 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, DufourgMN, Azzi S, Rousseau A, Perin L, Houang M, Seunou V, Esteva B, Thibaud N, Demay M-CR, Danton F, Petricko E, Bertrand A-M, Heirnichs C, Carel J-C, Loeuille G-A, Pinto G, Jaquemont M-L, Gicquel C, Cabrol S, Le Bouc Y. 2007. 11p15 ICR1 loss of methylation is a common and specific cause of typical Russell-Silver syndrome: Clinical scoring system and epigenetic-phenotypic correlations. J Clin Endocrin Metabol 92:3148-4154.
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Bertrand, A.-M.13
Heirnichs, C.14
Carel, J.-C.15
Loeuille, G.-A.16
Pinto, G.17
Jaquemont, M.-L.18
Gicquel, C.19
Cabrol, S.20
Le Bouc, Y.21
more..
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7
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Placental mesenchymal dysplasia associated with fetal overgrowth and mosaic deletion of the maternal copy of 11p15.5
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Robinson WP, Slee J, Smith N, Murch A, Watson SK, Lam WL, McFadden DE. 2007. Placental mesenchymal dysplasia associated with fetal overgrowth and mosaic deletion of the maternal copy of 11p15.5. Am J Med Genet Part A 143A:1752-1759. (Pubitemid 47217274)
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Lam, W.L.6
McFadden, D.E.7
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8
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55549114047
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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. 2008. 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. Am J Med Genet Part A 146A:2691-2697.
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Carey, J.C.6
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9
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77951707427
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Submicroscopic chromosomal imbalances in idiopathic Silver-Russell syndrome (SRS): The SRS phenotype overlaps with the 12q14 microdeletion syndrome
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in press
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Spengler S, Schönherr N, Binder G, Wollmann HA, Fricke-Otto S, Mühlenberg R, Denecke B, Baudis M, Eggermann T. 2009. Submicroscopic chromosomal imbalances in idiopathic Silver-Russell syndrome (SRS): The SRS phenotype overlaps with the 12q14 microdeletion syndrome. J Med Genet (in press).
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(2009)
J Med Genet
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Spengler, S.1
Schönherr, N.2
Binder, G.3
Wollmann, H.A.4
Fricke-Otto, S.5
Mühlenberg, R.6
Denecke, B.7
Baudis, M.8
Eggermann, T.9
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