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Select item 106206111.

João Camões dos Santos, Carolina Appleton, Francisca Cazaux Mateus, Rita Covas, Evguenia Pavlovna Bekman, Simão Teixeira da Rocha

Front Cell Dev Biol. 2023; 11: 1274040. Published online 2023 Oct 19. doi: 10.3389/fcell.2023.1274040

PMCID:: PMC10620611

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Select item 106162312.

Contextual fear memory impairment in Angelman syndrome model mice is associated with altered transcriptional responses

Wenyue Su, Yan Liu, Aileen Lam, Xiaoning Hao, Michel Baudry, Xiaoning Bi

Sci Rep. 2023; 13: 18647. Published online 2023 Oct 30. doi: 10.1038/s41598-023-45769-x

PMCID:: PMC10616231

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Select item 105881263.

Does the registry speak your language? A case study of the Global Angelman Syndrome Registry

Megan Tones, Nikolajs Zeps, Yvette Wyborn, Adam Smith, Roberto A. Barrero, Helen Heussler, Meagan Cross, James McGree, Matthew Bellgard

Orphanet J Rare Dis. 2023; 18: 330. Published online 2023 Oct 19. doi: 10.1186/s13023-023-02904-1

PMCID:: PMC10588126

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Select item 105709444.

Effects of valproate on seizure-like activity in Drosophila melanogaster with a knockdown of Ube3a in different neuronal populations as a model of Angelman Syndrome

Madeline C. Moore, Danielle T. Taylor

Epilepsy Behav Rep. 2023; 24: 100622. Published online 2023 Sep 28. doi: 10.1016/j.ebr.2023.100622

PMCID:: PMC10570944

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Select item 105323595.

Hyperphagia, Growth, and Puberty in Children with Angelman Syndrome

Karen G. C. B. Bindels-de Heus, Doesjka A Hagenaar, Ilonka Dekker, Danielle C. M. van der Kaay, Gerthe F. Kerkhof, ENCORE Expertise Center for AS, Ype Elgersma, Marie-Claire Y. de Wit, Sabine E. Mous, Henriette A. Moll

J Clin Med. 2023 Sep; 12(18): 5981. Published online 2023 Sep 15. doi: 10.3390/jcm12185981

PMCID:: PMC10532359

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Select item 105297306.

Qualitative Insights into Key Angelman Syndrome Motor Related Concepts Reported by Caregivers—A Thematic Analysis of Semi-Structured Interviews

Miranda Rogers, Stéphane Motola, Yacine Bechichi, Céline Cluzeau, Tanguy Terray, Allyson Berent, Jennifer Panagoulias, Jessica Duis, Damien Eggenspieler, Laurent Servais

Children (Basel) 2023 Sep; 10(9): 1462. Published online 2023 Aug 28. doi: 10.3390/children10091462

PMCID:: PMC10529730

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Select item 104912577.

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, Justin L. Cotney, Stormy J Chamberlain

Version 1. bioRxiv. Preprint. 2023 Aug 30. doi: 10.1101/2023.08.30.555563

PMCID:: PMC10491257

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Select item 104781168.

Síndrome de Angelman en el adulto

María Lorenzo-Ruiz, Sabela Novo-Ponte, Gema Iglesias-Escalera, Rosario Cazorla-Calleja, Julián Lara-Herguedas, Luis F. López-Pájaro, Belén Ruiz-Antorán

Rev Neurol. 2023; 76(7): 217–226. Spanish. Published online 2023 Apr 1. doi: 10.33588/rn.7607.2022235

PMCID:: PMC10478116

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Select item 103733899.

Enabling endpoint development for interventional clinical trials in individuals with Angelman syndrome: a prospective, longitudinal, observational clinical study (FREESIAS)

Jorrit Tjeertes, Carlos A. Bacino, Terry Jo Bichell, Lynne M. Bird, Mariana Bustamante, Rebecca Crean, Shafali Jeste, Robert W. Komorowski, Michelle L. Krishnan, Meghan T. Miller, David Nobbs, Cesar Ochoa-Lubinoff, Kimberly A. Parkerson, Alexander Rotenberg, Anjali Sadhwani, Mark D. Shen, Lisa Squassante, Wen-Hann Tan, Brenda Vincenzi, Anne C. Wheeler, Joerg F. Hipp, Elizabeth Berry-Kravis

J Neurodev Disord. 2023; 15: 22. Published online 2023 Jul 26. doi: 10.1186/s11689-023-09494-w

PMCID:: PMC10373389

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Select item 1028876110.

Developing Angelman syndrome-specific clinician-reported and caregiver-reported measures to support holistic, patient-centered drug development

Siobhan Connor-Ahmad, Jorrit Tjeertes, Michael Chladek, Louise Newton, Tara Symonds, Susanne Clinch, Brenda Vincenzi, Fiona McDougall

Orphanet J Rare Dis. 2023; 18: 156. Published online 2023 Jun 22. doi: 10.1186/s13023-023-02729-y

PMCID:: PMC10288761

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Select item 1027947511.

A Case Study of Early Diagnosed Angelman Syndrome: Recognizing Atypical Clinical Presentations

Han Dang, Sandhya Srinivasa, Sun Young Lee, Clifford Alprin

Cureus. 2023 May; 15(5): e39271. Published online 2023 May 20. doi: 10.7759/cureus.39271

PMCID:: PMC10279475

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Select item 1012675212.

Coexistence of junctional epidermolysis bullosa, autosomal recessive deafness type 57, and Angelman syndrome: A case report

Maria Eugenia Amato, Silvia Ricart, Maria Asunción Vicente, Loreto Martorell, Judith Armstrong, Guerau Fernández Isern, José Manuel Mascaro, Sol Balsells, Itziar Alonso, Mercedes Serrano, Juan Darío Ortigoza‐Escobar

Clin Case Rep. 2023 Apr; 11(4): e7275. Published online 2023 Apr 24. doi: 10.1002/ccr3.7275

PMCID:: PMC10126752

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Select item 1011060313.

Imbalanced expression of cation-chloride cotransporters as a potential therapeutic target in an Angelman syndrome mouse model

Kiyoshi Egawa, Miho Watanabe, Hideaki Shiraishi, Daisuke Sato, Yukitoshi Takahashi, Saori Nishio, Atsuo Fukuda

Sci Rep. 2023; 13: 5685. Published online 2023 Apr 17. doi: 10.1038/s41598-023-32376-z

PMCID:: PMC10110603

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Select item 1010390714.

Dietary Vitamin A and Breast Cancer Risk in Black Women: The African American Breast Cancer Epidemiology and Risk (AMBER) Consortium

Kevin R Bitsie, Ting-Yuan David Cheng, Susan E McCann, Gary Zirpoli, Song Yao, Elisa V Bandera, Laurence N Kolonel, Lynn Rosenberg, Andrew F Olshan, Julie R Palmer, Christine B Ambrosone

J Nutr. 2021 Dec; 151(12): 3628–3636. Published online 2023 Jan 19. doi: 10.1093/jn/nxab284

PMCID:: PMC10103907

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Select item 1002528815.

Identification of novel variations of oculocutaneous albinism type 2 with Prader–Willi syndrome/Angelman syndrome in two Chinese families

XiaoFei Chen, ZiShui Fang, Ting Pang, DongZhi Li, Jie Lei, WeiYing Jiang, HongYi Li

Front Genet. 2023; 14: 1135698. Published online 2023 Mar 6. doi: 10.3389/fgene.2023.1135698

PMCID:: PMC10025288

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Select item 999464016.

Spoken language comprehension in children and adults with Angelman Syndrome

Alexandra P. Key, Sydney Roth, Courtney Venker

J Commun Disord. Author manuscript; available in PMC 2023 Nov 1.

Published in final edited form as: J Commun Disord. 2022 Nov-Dec; 100: 106272. Published online 2022 Oct 11. doi: 10.1016/j.jcomdis.2022.106272

PMCID:: PMC9994640

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Select item 997518317.

Social attention and social-emotional modulation of attention in Angelman syndrome: an eye-tracking study

Serena Micheletti, Giacomo Vivanti, Stefano Renzetti, Matteo Paolo Lanaro, Paola Martelli, Stefano Calza, Social Attention in Angelman Study Group, Elisa Fazzi

Sci Rep. 2023; 13: 3375. Published online 2023 Feb 28. doi: 10.1038/s41598-023-30199-6

PMCID:: PMC9975183

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Select item 993022518.

Cortical and subcortical morphological alteration in Angelman syndrome

Xiaonan Du, Lei Wei, Baofeng Yang, Shasha Long, Ji Wang, Aiqi Sun, Yonghui Jiang, Zhongwei Qiao, He Wang, Yi Wang

J Neurodev Disord. 2023; 15: 7. Published online 2023 Feb 14. doi: 10.1186/s11689-022-09469-3

PMCID:: PMC9930225

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Select item 989480419.

1例Angelman综合征合并眼皮肤白化病2型患者的临床和遗传学分析及文献回顾

周秋君, 龚潘, 焦莶如, 杨志仙

Beijing Da Xue Xue Bao Yi Xue Ban. 2023 Feb 18; 55(1): 181–185. Chinese. Published online 2022 Apr 13. doi: 10.19723/j.issn.1671-167X.2023.01.028

PMCID:: PMC9894804

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Select item 982616720.

Association between early and current gastro‐intestinal symptoms and co‐morbidities in children and adolescents with Angelman syndrome

G. Leader, S. Whelan, N. N. Chonaill, R. Coyne, M. Tones, H. Heussler, M. Bellgard, A. Mannion

J Intellect Disabil Res. 2022 Nov; 66(11): 865–879. Published online 2022 Sep 2. doi: 10.1111/jir.12975

PMCID:: PMC9826167

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