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Select item 105222251.

Prader-Willi syndrome: endocrine manifestations and management

Crésio Alves, Ruth Rocha Franco

Arch Endocrinol Metab. 2020 May-Jun; 64(3): 223–234. Published online 2020 Jun 5. doi: 10.20945/2359-3997000000248

PMCID:: PMC10522225

Article PDF–181K

Select item 102712252.

Intranasal Carbetocin Reduces Hyperphagia, Anxiousness, and Distress in Prader-Willi Syndrome: CARE-PWS Phase 3 Trial

Elizabeth Roof, Cheri L Deal, Shawn E McCandless, Ronald L Cowan, Jennifer L Miller, Jill K Hamilton, Elizabeth R Roeder, Shana E McCormack, Tamanna R Roshan Lal, Hussein D Abdul-Latif, Andrea M Haqq, Kathryn S Obrynba, Laura C Torchen, Alaina P Vidmar, David H Viskochil, Jean-Pierre Chanoine, Carol K L Lam, Melinda J Pierce, Laurel L Williams, Lynne M Bird, Merlin G Butler, Diane E Jensen, Susan E Myers, Oliver J Oatman, Charumathi Baskaran, Laura J Chalmers, Cary Fu, Nathalie Alos, Scott D McLean, Ajay Shah, Barbara Y Whitman, Brent A Blumenstein, Sarah F Leonard, Jessica P Ernest, Joseph W Cormier, Sara P Cotter, Davis C Ryman

J Clin Endocrinol Metab. 2023 Jul; 108(7): 1696–1708. Published online 2023 Jan 12. doi: 10.1210/clinem/dgad015

PMCID:: PMC10271225

Article

Select item 102712193.

Diazoxide Choline Extended-Release Tablet in People With Prader-Willi Syndrome: A Double-Blind, Placebo-Controlled Trial

Jennifer L Miller, Evelien Gevers, Nicola Bridges, Jack A Yanovski, Parisa Salehi, Kathryn S Obrynba, Eric I Felner, Lynne M Bird, Ashley H Shoemaker, Moris Angulo, Merlin G Butler, David Stevenson, Jennifer Abuzzahab, Timothy Barrett, Melissa Lah, Elizabeth Littlejohn, Verghese Mathew, Neil M Cowen, Anish Bhatnagar, the DESTINY PWS Investigators

J Clin Endocrinol Metab. 2023 Jul; 108(7): 1676–1685. Published online 2023 Jan 14. doi: 10.1210/clinem/dgad014

PMCID:: PMC10271219

Article

Select item 99169854.

Clinical Trials in Prader–Willi Syndrome: A Review

Ranim Mahmoud, Virginia Kimonis, Merlin G. Butler

Int J Mol Sci. 2023 Feb; 24(3): 2150. Published online 2023 Jan 21. doi: 10.3390/ijms24032150

PMCID:: PMC9916985

Article PDF–458K

Select item 93238595.

Health Problems in Adults with Prader–Willi Syndrome of Different Genetic Subtypes: Cohort Study, Meta-Analysis and Review of the Literature

Anna G. W. Rosenberg, Charlotte M. Wellink, Juan M. Tellez Garcia, Karlijn Pellikaan, Denise H. Van Abswoude, Kirsten Davidse, Laura J. C. M. Van Zutven, Hennie T. Brüggenwirth, James L. Resnick, Aart J. Van der Lely, Laura C. G. De Graaff

J Clin Med. 2022 Jul; 11(14): 4033. Published online 2022 Jul 12. doi: 10.3390/jcm11144033

PMCID:: PMC9323859

Article PDF–2.1M

Select item 89558126.

Cognitive and Adaptive Effects of Early Growth Hormone Treatment in Prader–Willi Syndrome Patients: A Cohort Study

Aitana Ayet-Roger, Lorena Joga-Elvira, Assumpta Caixàs, Raquel Corripio

J Clin Med. 2022 Mar; 11(6): 1592. Published online 2022 Mar 14. doi: 10.3390/jcm11061592

PMCID:: PMC8955812

Article PDF–374K

Select item 87286207.

Feasibility of Screening for Chromosome 15 Imprinting Disorders in 16 579 Newborns by Using a Novel Genomic Workflow

David E. Godler, Ling Ling, Dinusha Gamage, Emma K. Baker, Minh Bui, Michael J. Field, Carolyn Rogers, Merlin G. Butler, Alessandra Murgia, Emanuela Leonardi, Roberta Polli, Charles E. Schwartz, Cindy D. Skinner, Angelica M. Alliende, Lorena Santa Maria, James Pitt, Ronda Greaves, David Francis, Ralph Oertel, Min Wang, Cas Simons, David J. Amor

JAMA Netw Open. 2022 Jan; 5(1): e2141911. Published online 2022 Jan 4. doi: 10.1001/jamanetworkopen.2021.41911

PMCID:: PMC8728620

Article

Select item 86022678.

Further insight into the global variability of the OCA2-HERC2 locus for human pigmentation from multiallelic markers

Philippe Suarez, Karine Baumer, Diana Hall

Sci Rep. 2021; 11: 22530. Published online 2021 Nov 18. doi: 10.1038/s41598-021-01940-w

PMCID:: PMC8602267

Article PDF–1.7M

Select item 85680519.

Influence of Molecular Classes and Growth Hormone Treatment on Growth and Dysmorphology in Prader-Willi Syndrome: A Multicenter Study

Ranim Mahmoud, Anna Leonenko, Merlin G. Butler, Pamela Flodman, June-Anne Gold, Jennifer L. Miller, Elizabeth Roof, Elisabeth Dykens, Daniel J. Driscoll, Virginia Kimonis

Clin Genet. Author manuscript; available in PMC 2022 Jul 1.

Published in final edited form as: Clin Genet. 2021 Jul; 100(1): 29–39. Published online 2021 Mar 13. doi: 10.1111/cge.13947

PMCID:: PMC8568051

Article PDF–167K

Select item 835962110.

Incidence of strabismus, strabismus surgeries, and other vision conditions in Prader-Willi syndrome: data from the Global Prader-Willi Syndrome Registry

Jessica E. Bohonowych, Caroline J. Vrana-Diaz, Jennifer L. Miller, Shawn E. McCandless, Theresa V. Strong

BMC Ophthalmol. 2021; 21: 296. Published online 2021 Aug 12. doi: 10.1186/s12886-021-02057-4

PMCID:: PMC8359621

Article PDF–1.0M

Select item 821577011.

Behavioral features in Prader-Willi syndrome (PWS): consensus paper from the International PWS Clinical Trial Consortium

Lauren Schwartz, Assumpta Caixàs, Anastasia Dimitropoulos, Elisabeth Dykens, Jessica Duis, Stewart Einfeld, Louise Gallagher, Anthony Holland, Lauren Rice, Elizabeth Roof, Parisa Salehi, Theresa Strong, Bonnie Taylor, Kate Woodcock

J Neurodev Disord. 2021; 13: 25. Published online 2021 Jun 21. doi: 10.1186/s11689-021-09373-2

PMCID:: PMC8215770

Article PDF–748K

Select item 786919012.

Time for a general approval of growth hormone treatment in adults with Prader–Willi syndrome

Charlotte Höybye, Anthony J. Holland, Daniel J. Driscoll, The Clinical and Scientific Advisory Board of The International Prader-Willi Syndrome Organisation

Orphanet J Rare Dis. 2021; 16: 69. Published online 2021 Feb 8. doi: 10.1186/s13023-020-01651-x

PMCID:: PMC7869190

Article PDF–653K

Select item 773723213.

Impact of genetic subtypes of Prader–Willi syndrome with growth hormone therapy on intelligence and body mass index

Merlin G. Butler, Naomi A. Matthews, Nidhi Patel, Abhilasha Surampalli, June-Anne Gold, Manaswitha Khare, Travis Thompson, Suzanne B. Cassidy, Virginia E. Kimonis

Am J Med Genet A. Author manuscript; available in PMC 2020 Dec 15.

Published in final edited form as: Am J Med Genet A. 2019 Sep; 179(9): 1826–1835. Published online 2019 Jul 16. doi: 10.1002/ajmg.a.61293

PMCID:: PMC7737232

Article PDF–608K

Select item 753608014.

Prader-Willi syndrome: reflections on seminal studies and future therapies

Michael S. Chung, Maéva Langouët, Stormy J. Chamberlain, Gordon G. Carmichael

Open Biol. 2020 Sep; 10(9): 200195. Published online 2020 Sep 23. doi: 10.1098/rsob.200195

PMCID:: PMC7536080

Article PDF–1.4M

Select item 738711315.

Molecular genetic classification in Prader-Willi syndrome: a multisite cohort study

Merlin G Butler, Samantha N Hartin, Waheeda A Hossain, Ann M Manzardo, Virginia Kimonis, Elisabeth Dykens, June Anne Gold, Soo-Jeong Kim, Nicolette Weisensel, Roy Tamura, Jennifer L Miller, Daniel J Driscoll

J Med Genet. Author manuscript; available in PMC 2020 Jul 28.

Published in final edited form as: J Med Genet. 2019 Mar; 56(3): 149–153. Published online 2018 May 5. doi: 10.1136/jmedgenet-2018-105301

PMCID:: PMC7387113

Article PDF–405K

Select item 721103216.

Central Adrenal Insufficiency Is Rare in Adults With Prader–Willi Syndrome

Anna G W Rosenberg, Karlijn Pellikaan, Christine Poitou, Anthony P Goldstone, Charlotte Høybye, Tania Markovic, Graziano Grugni, Antonino Crinò, Assumpta Caixàs, Muriel Coupaye, Sjoerd A A Van Den Berg, Aart Jan Van Der Lely, Laura C G De Graaff

J Clin Endocrinol Metab. 2020 Jul; 105(7): e2563–e2571. Published online 2020 Mar 31. doi: 10.1210/clinem/dgaa168

Correction in:: J Clin Endocrinol Metab. 2020 Aug; 105(8): e3052.

PMCID:: PMC7211032

Article

Select item 707362817.

Prader–Willi-Like Phenotype Caused by an Atypical 15q11.2 Microdeletion

Qiming Tan, Kathryn J. Potter, Lisa Cole Burnett, Camila E. Orsso, Mark Inman, Davis C. Ryman, Andrea M. Haqq

Genes (Basel) 2020 Feb; 11(2): 128. Published online 2020 Jan 25. doi: 10.3390/genes11020128

PMCID:: PMC7073628

Article PDF–477K

Select item 689024618.

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

PLoS One. 2019; 14(12): e0223750. Published online 2019 Dec 3. doi: 10.1371/journal.pone.0223750

PMCID:: PMC6890246

Article PDF–1.2M

Select item 682983619.

Causes of death in Prader-Willi syndrome: lessons from 11 years’ experience of a national reference center

Dibia Liz Pacoricona Alfaro, Perrine Lemoine, Virginie Ehlinger, Catherine Molinas, Gwénaëlle Diene, Marion Valette, Graziella Pinto, Muriel Coupaye, Christine Poitou-Bernert, Denise Thuilleaux, Catherine Arnaud, Maithé Tauber

Orphanet J Rare Dis. 2019; 14: 238. Published online 2019 Nov 4. doi: 10.1186/s13023-019-1214-2

PMCID:: PMC6829836

Article PDF–615K

Select item 677752820.

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

Article PDF–671K

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