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Disorders of imprinting

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

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

Katarzyna Kowal, Michał Skrzypek, Janusz Kocki

Strabismus surgery in Angelman syndrome: More than ocular alignment

Paola Michieletto, Stefano Pensiero, [ ... ], Paolo Bonanni

Two mouse models carrying truncating mutations in Magel2 show distinct phenotypes

Daisuke Ieda, Yutaka Negishi, [ ... ], Shinji Saitoh

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, [ ... ], Donald E. Spratt

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

K. Vanessa Carias, Mercedes Zoeteman, [ ... ], Rachel Wevrick

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, [ ... ], Anthony J. Holland

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

Elisabeth M. Dykens, Elizabeth Roof, [ ... ], Sarah Jurgensmeyer

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

Virginia Kimonis, Abhilasha Surampalli, [ ... ], Neil M. Cowen

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

Marlene Lorgen-Ritchie, Alison D. Murray, [ ... ], Paul Haggarty

Parent of origin gene expression in a founder population identifies two new candidate imprinted genes at known imprinted regions

Sahar V. Mozaffari, Michelle M. Stein, [ ... ], Carole Ober

High levels of caregiver burden in Prader-Willi syndrome

Nathalie Kayadjanian, Lauren Schwartz, [ ... ], Theresa V. Strong

AZP-531, an unacylated ghrelin analog, improves food-related behavior in patients with Prader-Willi syndrome: A randomized placebo-controlled trial

Soraya Allas, Assumpta Caixàs, [ ... ], Maithé Tauber

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