[1]Ishida M. New developments in Silver-Russell syndrome and implications for clinical practice. Epigenomics, 2016, 8(4): 563-580 [2]Wakeling EL. Silver-Russell syndrome. Arch Dis Child, 2011, 96(12): 1156-1161 [3]Wakeling EL, Brioude F, Lokulo-Sodipe O, et al. Diagnosis and management of Silver-Russell syndrome: first international consensus statement. Nat Rev Endocrinol, 2017, 13(2): 105-124 [4]Abu-Amero S, Wakeling EL, Preece M, et al. Epigenetic signatures of Silver-Russell syndrome. J Med Genet, 2010, 47(3): 150-154 [5]Hannula K, Lipsanen-Nyman M, Kontiokari T, et al. A narrow segment of maternal uniparental disomy of chromosome 7q31-qter in Silver-Russell syndrome delimits a candidate gene region. Am J Hum Genet, 2001, 68(1): 247-253 [6]Kim Y, Kim SS, Kim G, et al. 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. Clin Genet, 2005, 67(3): 267-269 [7]Lai KY, Skuse D, Stanhope R, et al. Cognitive abilities associated with the Silver-Russell syndrome. Arch Dis Child, 1994, 71(6): 490-496 [8]Azzi S, Salem J, Thibaud N, et al. A prospective study validating a clinical scoring system and demonstrating phenotypical-genotypical correlations in Silver-Russell syndrome. J Med Genet, 2015, 52(7): 446-453 [9]朱铭强, 巩纯秀, 吴迪, 等. Silver Russell综合征20例临床及遗传学分析. 中华儿科杂志, 2013, 51(3): 216-220 [10]黄书越, 巩纯秀, 赵旸, 等. 35例Silver-Russell综合征临床特点分析总结. 中华内分泌代谢杂志, 2014, 30(2): 119-122 [11]Fuke T, Mizuno S, Nagai T, et al. Molecular and clinical studies in 138 Japanese patients with Silver-Russell syndrome. PLoS One, 2013, 8(3): e60105 [12]Wakeling EL, Amero SA, Alders M, et al. Epigenotype-phenotype correlations in Silver-Russell syndrome. J Med Genet, 2010, 47(11): 760-768 [13]Ishida M. New developments in Silver-Russell syndrome and implications for clinical practice. Epigenomics, 2016, 8(4): 563-80 [14]Sachwitz J, Strobl-Wildemann G, Fekete G, et al. Examinations of maternal uniparental disomy and epimutations for chromosomes 6, 14, 16 and 20 in Silver-Russell syndrome-like phenotypes. BMC Med Genet, 2016, 17: 20 [15]Begemann M, Spengler S, Gogiel M, et al. Clinical significance of copy number variations in the 11p15. 5 imprinting control regions: new cases and review of the literature. J Med Genet, 2012, 49(9): 547-553 [16]Bliek J, Snijder S, Maas SM, et al. Phenotypic discordance upon paternal or maternal transmission of duplications of the 11p15 imprinted regions. Eur J Med Genet, 2009, 52(6): 404-408 [17]Chiesa N, De Crescenzo A, Mishra K, et al., The KCNQ1OT1 imprinting control region and non-coding RNA: new properties derived from the study of Beckwith-Wiedemann syndrome and Silver-Russell syndrome cases. Hum Mol Genet, 2012, 21(1): 10-25 [18]Hoffmann MJ, Florl AR, Seifert HH, et al., Multiple mechanisms downregulate CDKN1C in human bladder cancer. Int J Cancer, 2005, 114(3): 406-413 [19]Toumba M, Albanese A, Azcona C, et al. Effect of long-term growth hormone treatment on final height of children with Russell-Silver syndrome. Horm Res Paediatr, 2010, 74(3): 212-217 [20]Binder G, Liebl M, Woelfle J, et al. Adult height and epigenotype in children with Silver-Russell syndrome treated with GH. Horm Res Paediatr, 2013, 80(3): 193-200 |