Silver-Russell Syndrome

Molecular and clinical analyses of two patients with UPD(16)mat detected by screening 94 patients with Silver-Russell syndrome phenotype of unknown aetiology
Takanobu Inoue, Hideaki Yagasaki, Junko Nishioka, Akie Nakamura, Keiko Matsubara, Satoshi Narumi, Kazuhiko Nakabayashi, Kazuki Yamazawa, Tomoko Fuke, Akira Oka, Tsutomu Ogata, Maki Fukami, Masayo Kagami

Journal of Medical Genetics Jun 2019, 56 (6) 413-418; DOI: 10.1136/jmedgenet-2018-105463
Maternal variants in NLRP and other maternal effect proteins are associated with multilocus imprinting disturbance in offspring
Matthias Begemann, Faisal I Rezwan, Jasmin Beygo, Louise E Docherty, Julia Kolarova, Christopher Schroeder, Karin Buiting, Kamal Chokkalingam, Franziska Degenhardt, Emma L Wakeling, Stephanie Kleinle, Daniela González Fassrainer, Barbara Oehl-Jaschkowitz, Claire L S Turner, Michal Patalan, Maria Gizewska, Gerhard Binder, Can Thi Bich Ngoc, Vu Chi Dung, Sarju G Mehta, Gareth Baynam, Julian P Hamilton-Shield, Sara Aljareh, Oluwakemi Lokulo-Sodipe, Rachel Horton, Reiner Siebert, Miriam Elbracht, Isabel Karen Temple, Thomas Eggermann, Deborah J G Mackay

Journal of Medical Genetics Jul 2018, 55 (7) 497-504; DOI: 10.1136/jmedgenet-2017-105190
Human diseases versus mouse models: insights into the regulation of genomic imprinting at the human 11p15/mouse distal chromosome 7 region
Mansur Ennuri Shmela, Christine F Gicquel

Journal of Medical Genetics Jan 2013, 50 (1) 11-20; DOI: 10.1136/jmedgenet-2012-101321
Comparison of the clinical scoring systems in Silver–Russell syndrome and development of modified diagnostic criteria to guide molecular genetic testing
Renuka P Dias, Peter Nightingale, Carol Hardy, Gail Kirby, Louise Tee, Susan Price, Fiona MacDonald, Timothy G Barrett, Eamonn R Maher

Journal of Medical Genetics Sep 2013, 50 (9) 635-639; DOI: 10.1136/jmedgenet-2013-101693

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Silver-Russell Syndrome