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Disorders of imprinting

Perception of four intellectual and developmental disabilities based on search engine and news portrayal

Lillian J. Droscha, Sophia Chung, Zoe Li-Khan, Ashley Scott, Eric Rubenstein

published 10 Feb 2025

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Generation of isogenic models of Angelman syndrome and Prader-Willi syndrome in CRISPR/Cas9-engineered human embryonic stem cells

Rachel B. Gilmore, Dea Gorka, Christopher E. Stoddard, Pooja Sonawane, Justin Cotney, Stormy J. Chamberlain

published 01 Nov 2024

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Management of food socialization for children with Prader-Willi Syndrome: An exploration study in Malaysia

Puspa Melati Wan, Affezah Ali, Elise Mognard, Anasuya Jegathevi Jegathesan, Soon Li Lee, Rajalakshmi Ganesan, Mohd Ismail Noor, Amandine Rochedy, Marion Valette, Maïthé Tauber, Meow-Keong Thong, Jean-Pierre Poulain

published 30 Aug 2024

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Uncovering the phenotypic consequences of multi-locus imprinting disturbances using genome-wide methylation analysis in genomic imprinting disorders

Hwa Young Kim, Choong Ho Shin, Chang Ho Shin, Jung Min Ko

published 18 Aug 2023

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Experiencing illness as a crisis by the caregivers of individuals with Prader-Willi Syndrome

Katarzyna Kowal, Michał Skrzypek, Janusz Kocki

published 01 Sep 2022

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Strabismus surgery in Angelman syndrome: More than ocular alignment

Paola Michieletto, Stefano Pensiero, Laura Diplotti, Luca Ronfani, Manuela Giangreco, Alberto Danieli, Paolo Bonanni

published 13 Nov 2020

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Two mouse models carrying truncating mutations in Magel2 show distinct phenotypes

Daisuke Ieda, Yutaka Negishi, Tomomi Miyamoto, Yoshikazu Johmura, Natsuko Kumamoto, Kohji Kato, Ichiro Miyoshi, Makoto Nakanishi, Shinya Ugawa, Hisashi Oishi, Shinji Saitoh

published 17 Aug 2020

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An Angelman syndrome substitution in the HECT E3 ubiquitin ligase C-terminal Lobe of E6AP affects protein stability and activity

Steven A. Beasley, Chloe E. Kellum, Rachel J. Orlomoski, Feston Idrizi, Donald E. Spratt

published 08 Jul 2020

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A MAGEL2-deubiquitinase complex modulates the ubiquitination of circadian rhythm protein CRY1

K. Vanessa Carias, Mercedes Zoeteman, Abigail Seewald, Matthea R. Sanderson, Jocelyn M. Bischof, Rachel Wevrick

published 21 Apr 2020

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Transcutaneous vagus nerve stimulation (t-VNS): A novel effective treatment for temper outbursts in adults with Prader-Willi Syndrome indicated by results from a non-blind study

Katherine E. Manning, Jessica A. Beresford-Webb, Lucie C. S. Aman, Howard A. Ring, Peter C. Watson, Stephen W. Porges, Chris Oliver, Sally R. Jennings, Anthony J. Holland

published 03 Dec 2019

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Profiles and trajectories of impaired social cognition in people with Prader-Willi syndrome

Elisabeth M. Dykens, Elizabeth Roof, Hailee Hunt-Hawkins, Christopher Daniell, Sarah Jurgensmeyer

published 17 Oct 2019

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A randomized pilot efficacy and safety trial of diazoxide choline controlled-release in patients with Prader-Willi syndrome

Virginia Kimonis, Abhilasha Surampalli, Marie Wencel, June-Anne Gold, Neil M. Cowen

published 23 Sep 2019

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Imprinting methylation in SNRPN and MEST1 in adult blood predicts cognitive ability

Marlene Lorgen-Ritchie, Alison D. Murray, Anne C. Ferguson-Smith, Marcus Richards, Graham W. Horgan, Louise H. Phillips, Gwen Hoad, Ishbel Gall, Kristina Harrison, Geraldine McNeill, Mitsuteru Ito, Paul Haggarty

published 01 Feb 2019

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