Literature DB >> 14523374

Problems in detecting mosaic DNA methylation in Angelman syndrome.

Bernhard Horsthemke, Christina Lich, Karin Buiting, Roland Achmann, Christa Aulehla-Scholz, Alessandra Baumer, Joachim Bürger, Bernd Dworniczak, Dieter Gläser, Elke Holinski-Feder, Bart Janssen, Stephanie Kleinle, Lothar Kochhan, Ernst Krasemann, Cornelia Kraus, Peter Kroisel, Hansjörg Plendl, Sabine Purmann, Gabriele Sander, Heyko Skladny, Eva Spitzer, Barbara Thamm-Mücke, Raymonda Varon-Mateeva, Andreas Weinhäusel, Helga Weirich.   

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Year:  2003        PMID： 14523374     DOI： 10.1038/sj.ejhg.5201078

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


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  4 in total

1.  A modified MS-PCR approach to diagnose patients with Prader-Willi and Angelman syndrome.

Authors:  Jéssica Fernandes Dos Santos; Laís R Mota; Pedro Henrique Silva Andrade Rocha; Renata Lúcia L Ferreira de Lima
Journal:  Mol Biol Rep       Date:  2016-08-17       Impact factor: 2.316

2.  Establishment of the first WHO international genetic reference panel for Prader Willi and Angelman syndromes.

Authors:  Jennifer Boyle; Malcolm Hawkins; David E Barton; Karen Meaney; Miriam Guitart; Anna O'Grady; Simon Tobi; Simon C Ramsden; Rob Elles; Elaine Gray; Paul Metcalfe; J Ross Hawkins
Journal:  Eur J Hum Genet       Date:  2011-05-18       Impact factor: 4.246

3.  Practice guidelines for the molecular analysis of Prader-Willi and Angelman syndromes.

Authors:  Simon C Ramsden; Jill Clayton-Smith; Rachael Birch; Karin Buiting
Journal:  BMC Med Genet       Date:  2010-05-11       Impact factor: 2.103

4.  Update of the EMQN/ACGS best practice guidelines for molecular analysis of Prader-Willi and Angelman syndromes.

Authors:  Jasmin Beygo; Karin Buiting; Simon C Ramsden; Rachael Ellis; Jill Clayton-Smith; Deniz Kanber
Journal:  Eur J Hum Genet       Date:  2019-06-24       Impact factor: 4.246
  4 in total

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