Literature DB >> 21150879

Clinical utility gene card for: Silver-Russell syndrome.

Thomas Eggermann1, Karin Buiting, I Karen Temple.   

Abstract

Mesh：

Year:  2010        PMID： 21150879      PMCID： PMC3061987          DOI： 10.1038/ejhg.2010.202

Source DB:  PubMed          Journal:  Eur J Hum Genet        ISSN： 1018-4813            Impact factor:   4.246


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  3 in total

1.  Methylation analysis of 79 patients with growth restriction reveals novel patterns of methylation change at imprinted loci.

Authors:  Claire Louise Susan Turner; Deborah M Mackay; Jonathan L A Callaway; Louise E Docherty; Rebecca L Poole; Hilary Bullman; Margaret Lever; Bruce M Castle; Emma C Kivuva; Peter D Turnpenny; Sarju G Mehta; Sahar Mansour; Emma L Wakeling; Verghese Mathew; Jackie Madden; Justin H Davies; I Karen Temple
Journal:  Eur J Hum Genet       Date:  2010-01-27       Impact factor: 4.246

2.  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.

Authors:  Salah Azzi; Sylvie Rossignol; Virginie Steunou; Theo Sas; Nathalie Thibaud; Fabienne Danton; Maryline Le Jule; Claudine Heinrichs; Sylvie Cabrol; Christine Gicquel; Yves Le Bouc; Irene Netchine
Journal:  Hum Mol Genet       Date:  2009-09-14       Impact factor: 6.150

Review 3.  Growth retardation versus overgrowth: Silver-Russell syndrome is genetically opposite to Beckwith-Wiedemann syndrome.

Authors:  Thomas Eggermann; Katja Eggermann; Nadine Schönherr
Journal:  Trends Genet       Date:  2008-03-07       Impact factor: 11.639
  3 in total
  4 in total

Review 1.  Congenital imprinting disorders: EUCID.net - a network to decipher their aetiology and to improve the diagnostic and clinical care.

Authors:  Thomas Eggermann; Irène Netchine; I Karen Temple; Zeynep Tümer; David Monk; Deborah Mackay; Karin Grønskov; Andrea Riccio; Agnès Linglart; Eamonn R Maher
Journal:  Clin Epigenetics       Date:  2015-03-14       Impact factor: 6.551

2.  EMQN best practice guidelines for the molecular genetic testing and reporting of chromosome 11p15 imprinting disorders: Silver-Russell and Beckwith-Wiedemann syndrome.

Authors:  Katja Eggermann; Jet Bliek; Frédéric Brioude; Elizabeth Algar; Karin Buiting; Silvia Russo; Zeynep Tümer; David Monk; Gudrun Moore; Thalia Antoniadi; Fiona Macdonald; Irène Netchine; Paolo Lombardi; Lukas Soellner; Matthias Begemann; Dirk Prawitt; Eamonn R Maher; Marcel Mannens; Andrea Riccio; Rosanna Weksberg; Pablo Lapunzina; Karen Grønskov; Deborah Jg Mackay; Thomas Eggermann
Journal:  Eur J Hum Genet       Date:  2016-05-11       Impact factor: 4.246

3.  12q14.3 microdeletion involving HMGA2 gene cause a Silver-Russell syndrome-like phenotype: a case report and review of the literature.

Authors:  Francesca Mercadante; Martina Busè; Emanuela Salzano; Tiziana Fragapane; Daniela Palazzo; Michela Malacarne; Maria Piccione
Journal:  Ital J Pediatr       Date:  2020-07-28       Impact factor: 2.638

Review 4.  Modeling human epigenetic disorders in mice: Beckwith-Wiedemann syndrome and Silver-Russell syndrome.

Authors:  Suhee Chang; Marisa S Bartolomei
Journal:  Dis Model Mech       Date:  2020-05-26       Impact factor: 5.758
  4 in total

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