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Select item 85052541.

Angelman syndrome genotypes manifest varying degrees of clinical severity and developmental impairment

Marius Keute, Meghan T. Miller, Michelle L. Krishnan, Anjali Sadhwani, Stormy Chamberlain, Ronald L. Thibert, Wen-Hann Tan, Lynne M. Bird, Joerg F. Hipp

Mol Psychiatry. 2021; 26(7): 3625–3633. Published online 2020 Aug 13. doi: 10.1038/s41380-020-0858-6

PMCID:: PMC8505254

Abstract Article PDF–1.1M

Select item 84075962.

Maladaptive behaviors in individuals with Angelman syndrome

Anjali Sadhwani, Jennifer M. Willen, Nicole LaVallee, Miganush Stepanians, Hillary Miller, Sarika U. Peters, Rene L. Barbieri-Welge, Lucia T. Horowitz, Lisa M. Noll, Rachel J. Hundley, Lynne M. Bird, Wen-Hann Tan

Am J Med Genet A. Author manuscript; available in PMC 2021 Aug 31.

Published in final edited form as: Am J Med Genet A. 2019 Jun; 179(6): 983–992. Published online 2019 Apr 3. doi: 10.1002/ajmg.a.61140

PMCID:: PMC8407596

Abstract Article PDF–1021K

Select item 80553303.

The STARS Phase 2 Study: A Randomized Controlled Trial of Gaboxadol in Angelman Syndrome

Lynne M. Bird, Cesar Ochoa-Lubinoff, Wen-Hann Tan, Gali Heimer, Raun D. Melmed, Amit Rakhit, Jeannie Visootsak, Matthew J. During, Christina Holcroft, Rebecca D. Burdine, Alexander Kolevzon, Ronald L. Thibert

Neurology. 2021 Feb 16; 96(7): e1024–e1035. doi: 10.1212/WNL.0000000000011409

PMCID:: PMC8055330

Abstract Article PDF–470K

Select item 76885004.

Epilepsy in Angelman syndrome: A Scoping Review

Debopam Samanta

Brain Dev. Author manuscript; available in PMC 2022 Jan 1.

Published in final edited form as: Brain Dev. 2021 Jan; 43(1): 32–44. Published online 2020 Sep 4. doi: 10.1016/j.braindev.2020.08.014

PMCID:: PMC7688500

Abstract Article PDF–1.0M

Select item 69401555.

Ocular findings and strabismus surgery outcomes in Chinese children with Angelman syndrome: Three case reports

Haiyun Ye, Xiaoping Lan, Qingyu Liu, Yidan Zhang, Siying Wang, Ce Zheng, Yue Di, Tong Qiao

Medicine (Baltimore) 2019 Dec; 98(51): e18077. Published online 2019 Dec 20. doi: 10.1097/MD.0000000000018077

PMCID:: PMC6940155

Abstract Article PDF–659K

Select item 69165536.

An overview of health issues and development in a large clinical cohort of children with Angelman syndrome

Karen G. C. B. Bindels‐de Heus, Sabine E. Mous, Maartje ten Hooven‐Radstaake, Bianca M. van Iperen‐Kolk, Cindy Navis, André B. Rietman, Leontine W. ten Hoopen, Alice S. Brooks, ENCORE Expertise Center for AS, Ype Elgersma, Henriëtte A. Moll, Marie‐Claire Y. de Wit

Am J Med Genet A. 2020 Jan; 182(1): 53–63. Published online 2019 Nov 15. doi: 10.1002/ajmg.a.61382

PMCID:: PMC6916553

Abstract Article PDF–1.7M

Select item 67775287.

Update of the EMQN/ACGS best practice guidelines for molecular analysis of Prader-Willi and Angelman syndromes

Jasmin Beygo, Karin Buiting, Simon C. Ramsden, Rachael Ellis, Jill Clayton-Smith, Deniz Kanber

Eur J Hum Genet. 2019 Sep; 27(9): 1326–1340. Published online 2019 Jun 24. doi: 10.1038/s41431-019-0435-0

PMCID:: PMC6777528

Abstract Article PDF–671K

Select item 67322908.

Preserved expressive language as a phenotypic determinant of Mosaic Angelman Syndrome

Robert P. Carson, Lynne Bird, Anna K. Childers, Ferrin Wheeler, Jessica Duis

Mol Genet Genomic Med. 2019 Sep; 7(9): e837. Published online 2019 Aug 10. doi: 10.1002/mgg3.837

PMCID:: PMC6732290

Abstract Article PDF–792K

Select item 66250919.

Healthcare burden among individuals with Angelman syndrome: Findings from the Angelman Syndrome Natural History Study

Nasreen Khan, Raquel Cabo, Wen‐Hann Tan, Regina Tayag, Lynne M. Bird

Mol Genet Genomic Med. 2019 Jul; 7(7): e00734. Published online 2019 May 14. doi: 10.1002/mgg3.734

PMCID:: PMC6625091

Abstract Article PDF–431K

Select item 636776610.

Association of four imprinting disorders and ART

Hiromitsu Hattori, Hitoshi Hiura, Akane Kitamura, Naoko Miyauchi, Norio Kobayashi, Souta Takahashi, Hiroaki Okae, Koichi Kyono, Masayo Kagami, Tsutomu Ogata, Takahiro Arima

Clin Epigenetics. 2019; 11: 21. Published online 2019 Feb 7. doi: 10.1186/s13148-019-0623-3

PMCID:: PMC6367766

Abstract Article PDF–783K

Select item 603001311.

Detection of a case of Angelman syndrome caused by an imprinting error in 949 pregnancies analyzed for AS following IVF

John P. Johnson, Jonathon Schoof, Linda Beischel, Corbin Schwancke, James Goldberg, Lauri Black, Lori Ross, Suchina Bhatt

J Assist Reprod Genet. 2018 Jun; 35(6): 981–984. Published online 2018 Apr 13. doi: 10.1007/s10815-018-1161-1

PMCID:: PMC6030013

Article PDF–522K

Select item 586719312.

A Randomized Controlled Trial of Levodopa in Patients with Angelman Syndrome

Wen-Hann Tan, Lynne M. Bird, Anjali Sadhwani, Rene L. Barbieri-Welge, Steven A. Skinner, Lucia T. Horowitz, Carlos A. Bacino, Lisa M. Noll, Cary Fu, Rachel J. Hundley, Logan K. Wink, Craig A. Erickson, Gregory N. Barnes, Anne Slavotinek, Rita Jeremy, Alexander Rotenberg, Sanjeev V. Kothare, Heather E. Olson, Annapurna Poduri, Mark P. Nespeca, Hillary C. Chu, Jennifer M. Willen, Kevin F. Haas, Edwin J. Weeber, Paul A. Rufo

Am J Med Genet A. Author manuscript; available in PMC 2019 May 1.

Published in final edited form as: Am J Med Genet A. 2018 May; 176(5): 1099–1107. Published online 2017 Sep 25. doi: 10.1002/ajmg.a.38457

PMCID:: PMC5867193

Abstract Article PDF–506K

Select item 561527213.

Sleep Disorders in Childhood Neurogenetic Disorders

Laura Beth Mann Dosier, Bradley V. Vaughn, Zheng Fan

Children (Basel) 2017 Sep; 4(9): 82. Published online 2017 Sep 12. doi: 10.3390/children4090082

PMCID:: PMC5615272

Abstract Article PDF–1.3M

Select item 553434614.

Angelman Syndrome in Adulthood

Anna M. Larson, Julianna E. Shinnick, Elias A. Shaaya, Elizabeth A. Thiele, Ronald L. Thibert

Am J Med Genet A. Author manuscript; available in PMC 2017 Jul 30.

Published in final edited form as: Am J Med Genet A. 2015 Feb; 167A(2): 331–344. Published online 2014 Nov 26. doi: 10.1002/ajmg.a.36864

PMCID:: PMC5534346

Abstract Article PDF–413K

Select item 491596715.

The Effect of Menstrual Issues on Young Women with Angelman Syndrome

Alexa P. Kaskowitz, Melina Dendrinos, Pamela J. Murray, Elisabeth H. Quint, Susan Ernst

J Pediatr Adolesc Gynecol. Author manuscript; available in PMC 2017 Aug 1.

Published in final edited form as: J Pediatr Adolesc Gynecol. 2016 Aug; 29(4): 348–352. Published online 2015 Dec 21. doi: 10.1016/j.jpag.2015.12.004

PMCID:: PMC4915967

Abstract Article PDF–100K

Select item 403614616.

Angelman syndrome: review of clinical and molecular aspects

Lynne M Bird

Appl Clin Genet. 2014; 7: 93–104. Published online 2014 May 16. doi: 10.2147/TACG.S57386

PMCID:: PMC4036146

Abstract Article PDF–345K

Select item 387324517.

Truncation of Ube3a-ATS Unsilences Paternal Ube3a and Ameliorates Behavioral Defects in the Angelman Syndrome Mouse Model

Linyan Meng, Richard Erwin Person, Wei Huang, Ping Jun Zhu, Mauro Costa-Mattioli, Arthur L. Beaudet

PLoS Genet. 2013 Dec; 9(12): e1004039. Published online 2013 Dec 26. doi: 10.1371/journal.pgen.1004039

PMCID:: PMC3873245

Abstract Article PDF–5.7M

Select item 356332018.

Angelman Syndrome: Mutations Influence Features in Early Childhood

Wen-Hann Tan, Carlos A. Bacino, Steven A. Skinner, Irina Anselm, Rene Barbieri-Welge, Astrid Bauer-Carlin, Arthur L. Beaudet, Terry Jo Bichell, Jennifer K. Gentile, Daniel G. Glaze, Lucia T. Horowitz, Sanjeev V. Kothare, Hye-Seung Lee, Mark P. Nespeca, Sarika U. Peters, Trilochan Sahoo, Dean Sarco, Susan E. Waisbren, Lynne M. Bird

Am J Med Genet A. Author manuscript; available in PMC 2013 Feb 4.

Published in final edited form as: Am J Med Genet A. 2011 Jan; 155A(1): 81–90. doi: 10.1002/ajmg.a.33775

PMCID:: PMC3563320

Abstract Article PDF–65K

Select item 317213019.

Double-Blind Therapeutic Trial in Angelman Syndrome Using Betaine and Folic Acid

Sarika U. Peters, Lynne M. Bird, Virginia Kimonis, Daniel G. Glaze, Lina M. Shinawi, Terry Jo Bichell, Rene Barbieri-Welge, Mark Nespeca, Irina Anselm, Susan Waisbren, Erica Sanborn, Qin Sun, William E. O’Brien, Arthur L. Beaudet, Carlos A. Bacino

Am J Med Genet A. Author manuscript; available in PMC 2011 Sep 13.

Published in final edited form as: Am J Med Genet A. 2010 Aug; 152A(8): 1994–2001. doi: 10.1002/ajmg.a.33509

PMCID:: PMC3172130

Abstract Article PDF–336K

Select item 308361920.

Deletions flanked by breakpoints 3 and 4 on 15q13 may contribute to abnormal phenotypes

Jill A Rosenfeld, Lindsey E Stephens, Justine Coppinger, Blake C Ballif, Joe J Hoo, Beatrice N French, Valerie C Banks, Wendy E Smith, David Manchester, Anne Chun-Hui Tsai, Katrina Merrion, Roberto Mendoza-Londono, Lucie Dupuis, Roger Schultz, Beth Torchia, Trilochan Sahoo, Bassem Bejjani, David D Weaver, Lisa G Shaffer

Eur J Hum Genet. 2011 May; 19(5): 547–554. Published online 2011 Jan 19. doi: 10.1038/ejhg.2010.237

PMCID:: PMC3083619

Abstract Article PDF–664K

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