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Diagnosis and management of Silver-Russell syndrome: first international consensus statement.
Wakeling EL, Brioude F, Lokulo-Sodipe O, O'Connell SM, Salem J, Bliek J, Canton AP, Chrzanowska KH, Davies JH, Dias RP, Dubern B, Elbracht M, Giabicani E, Grimberg A, Grønskov K, Hokken-Koelega AC, Jorge AA, Kagami M, Linglart A, Maghnie M, Mohnike K, Monk D, Moore GE, Murray PG, Ogata T, Petit IO, Russo S, Said E, Toumba M, Tümer Z, Binder G, Eggermann T, Harbison MD, Temple IK, Mackay DJ, Netchine I. Wakeling EL, et al. Nat Rev Endocrinol. 2017 Feb;13(2):105-124. doi: 10.1038/nrendo.2016.138. Epub 2016 Sep 2. Nat Rev Endocrinol. 2017. PMID: 27585961
This Consensus Statement summarizes recommendations for clinical diagnosis, investigation and management of patients with Silver-Russell syndrome (SRS), an imprinting disorder that causes prenatal and postnatal growth retardation. ...
This Consensus Statement summarizes recommendations for clinical diagnosis, investigation and management of patients with Silver-R …
Silver-Russell syndrome.
Wakeling EL. Wakeling EL. Arch Dis Child. 2011 Dec;96(12):1156-61. doi: 10.1136/adc.2010.190165. Epub 2011 Feb 24. Arch Dis Child. 2011. PMID: 21349887 Review.
Silver-Russell syndrome (SRS) is characterised by intrauterine growth restriction, poor postnatal growth, relative macrocephaly, triangular face, asymmetry and feeding difficulties. As many of these features are non-specific, clinical diagnosis of SRS remains …
Silver-Russell syndrome (SRS) is characterised by intrauterine growth restriction, poor postnatal growth, relative macr …
Russell-Silver syndrome.
Eggermann T. Eggermann T. Am J Med Genet C Semin Med Genet. 2010 Aug 15;154C(3):355-64. doi: 10.1002/ajmg.c.30274. Am J Med Genet C Semin Med Genet. 2010. PMID: 20803658 Review.
In comparison to Prader-Willi or Angelman syndrome, Russell-Silver syndrome (RSS) is a relatively "young" imprinting disorder. ...Up to 5% of patients carry a maternal uniparental disomy of chromosome 7 (UPD(7)mat), at least 44% show hypomethylation in …
In comparison to Prader-Willi or Angelman syndrome, Russell-Silver syndrome (RSS) is a relatively "young" imprin …
IGF2 Mutations.
Masunaga Y, Inoue T, Yamoto K, Fujisawa Y, Sato Y, Kawashima-Sonoyama Y, Morisada N, Iijima K, Ohata Y, Namba N, Suzumura H, Kuribayashi R, Yamaguchi Y, Yoshihashi H, Fukami M, Saitsu H, Kagami M, Ogata T. Masunaga Y, et al. J Clin Endocrinol Metab. 2020 Jan 1;105(1):dgz034. doi: 10.1210/clinem/dgz034. J Clin Endocrinol Metab. 2020. PMID: 31544945 Review.
We also compare clinical features between patients with IGF2 mutations and those with H19/IGF2:IG-DMR epimutations. RESULTS: We recruited five cases with IGF2 mutations: case 1 with a splice site mutation (c.-6-1G>C) leading to skipping of exon 2 and cases 2-5 with diff …
We also compare clinical features between patients with IGF2 mutations and those with H19/IGF2:IG-DMR epimutations. RESULTS: We recruited fi …
Human imprinting syndromes.
Lim DH, Maher ER. Lim DH, et al. Epigenomics. 2009 Dec;1(2):347-69. doi: 10.2217/epi.09.24. Epigenomics. 2009. PMID: 22122706 Review.
To illustrate these concepts we review the clinical and molecular features of several human imprinting syndromes including Beckwith-Wiedemann syndrome, Silver-Russell syndrome, Angelman syndrome, Prader-Willi syndrome, pseudohypoparathyro …
To illustrate these concepts we review the clinical and molecular features of several human imprinting syndromes including Beckwith-Wiedeman …
New developments in Silver-Russell syndrome and implications for clinical practice.
Ishida M. Ishida M. Epigenomics. 2016 Apr;8(4):563-80. doi: 10.2217/epi-2015-0010. Epub 2016 Apr 12. Epigenomics. 2016. PMID: 27066913 Free PMC article. Review.
Silver-Russell syndrome is a clinically and genetically heterogeneous disorder, characterized by prenatal and postnatal growth restriction, relative macrocephaly, body asymmetry and characteristic facial features. ...Currently, maternal uniparental disomy of …
Silver-Russell syndrome is a clinically and genetically heterogeneous disorder, characterized by prenatal and postnatal …
Silver-Russell Syndrome - Part I: Clinical Characteristics and Genetic Background.
Marczak-Hałupka A, Kalina MA, Tańska A, Chrzanowska KH. Marczak-Hałupka A, et al. Pediatr Endocrinol Diabetes Metab. 2015;20(3):101-6. doi: 10.18544/PEDM-20.03.0009. Pediatr Endocrinol Diabetes Metab. 2015. PMID: 26615046 Free article. Review.
Silver-Russell syndrome (SRS) is a rare, clinically and genetically heterogeneous entity, caused by (epi)genetic alternations. ...About 40-60% of cases are caused by hypomethylation of 11p.15.5 Imprinting Centre Region 1 (ICR1) on the paternal chromoso …
Silver-Russell syndrome (SRS) is a rare, clinically and genetically heterogeneous entity, caused by (epi)genetic altern …
Clinical epigenetics: a primer for the practitioner.
Aygun D, Bjornsson HT. Aygun D, et al. Dev Med Child Neurol. 2020 Feb;62(2):192-200. doi: 10.1111/dmcn.14398. Epub 2019 Nov 20. Dev Med Child Neurol. 2020. PMID: 31749156 Free article. Review.
Here we summarize some of the major principles of epigenetics including how epigenetic modifications are: (1) normally reset in the germ line, (2) form an additional layer of interindividual variation, (3) are environmentally sensitive, and (4) change over time in humans. …
Here we summarize some of the major principles of epigenetics including how epigenetic modifications are: (1) normally reset in the g …
Modeling human epigenetic disorders in mice: Beckwith-Wiedemann syndrome and Silver-Russell syndrome.
Chang S, Bartolomei MS. Chang S, et al. Dis Model Mech. 2020 May 26;13(5):dmm044123. doi: 10.1242/dmm.044123. Dis Model Mech. 2020. PMID: 32424032 Free PMC article. Review.
Dysregulation of genomic imprinting can cause developmental disorders such as Beckwith-Wiedemann syndrome (BWS) and Silver-Russell syndrome (SRS). In this Review, we discuss (1) how various (epi)genetic lesions lead to the dysregulation of clini …
Dysregulation of genomic imprinting can cause developmental disorders such as Beckwith-Wiedemann syndrome (BWS) and Silver- …
Epigenetic and genetic diagnosis of Silver-Russell syndrome.
Eggermann T, Spengler S, Gogiel M, Begemann M, Elbracht M. Eggermann T, et al. Expert Rev Mol Diagn. 2012 Jun;12(5):459-71. doi: 10.1586/erm.12.43. Expert Rev Mol Diagn. 2012. PMID: 22702363 Review.
Silver-Russell syndrome (SRS) is a congenital imprinting disorder characterized by intrauterine and postnatal growth restriction and further characteristic features. SRS is genetically heterogenous: 7-10% of patients carry a maternal uniparental disomy of chr …
Silver-Russell syndrome (SRS) is a congenital imprinting disorder characterized by intrauterine and postnatal growth re …
49 results