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Angelman syndrome

Strabismus surgery in Angelman syndrome: More than ocular alignment

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

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

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

Imprinting alterations in sperm may not significantly influence ART outcomes and imprinting patterns in the cord blood of offspring

Li Tang, Zichao Liu, [ ... ], Shuhua Zhao

From Cortical and Subcortical Grey Matter Abnormalities to Neurobehavioral Phenotype of Angelman Syndrome: A Voxel-Based Morphometry Study

Gayane Aghakhanyan, Paolo Bonanni, [ ... ], Domenico Montanaro

Clinical Application of an Innovative Multiplex-Fluorescent-Labeled STRs Assay for Prader-Willi Syndrome and Angelman Syndrome

Kaihui Zhang, Shu Liu, [ ... ], Zhongtao Gai

Insulin Like Growth Factor 2 Expression in the Rat Brain Both in Basal Condition and following Learning Predominantly Derives from the Maternal Allele

Xiaojing Ye, Amy Kohtz, [ ... ], Cristina M. Alberini

Toward a Broader View of Ube3a in a Mouse Model of Angelman Syndrome: Expression in Brain, Spinal Cord, Sciatic Nerve and Glial Cells

Mark D. Grier, Robert P. Carson, Andre Hollis Lagrange

Expression at the Imprinted Dlk1-Gtl2 Locus Is Regulated by Proneural Genes in the Developing Telencephalon

Julie Seibt, Olivier Armant, [ ... ], Tristan Bouschet

Allele-Biased Expression in Differentiating Human Neurons: Implications for Neuropsychiatric Disorders

Mingyan Lin, Anastasia Hrabovsky, [ ... ], Herbert M. Lachman

Methylation Defect in Imprinted Genes Detected in Patients with an Albright's Hereditary Osteodystrophy Like Phenotype and Platelet Gs Hypofunction

Benedetta Izzi, Inge Francois, [ ... ], Kathleen Freson

An Unexpected Function of the Prader-Willi Syndrome Imprinting Center in Maternal Imprinting in Mice

Mei-Yi Wu, Ming Jiang, [ ... ], Ray-Chang Wu

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