PMC Articles for MedGen (Select 462653) - PMC

Select item 109238541.

Confirmation and expansion of the phenotype of the TCEAL1-related neurodevelopmental disorder

Fatimah Albuainain, Yuwei Shi, Sarah Lor-Zade, Ulrike Hüffmeier, Melissa Pauly, André Reis, Laurence Faivre, Julien Maraval, Ange-Line Bruel, Frédéric Tran Mau Them, Tobias B. Haack, Ute Grasshoff, Veronka Horber, Rachel Schot, Marjon van Slegtenhorst, Martina Wilke, Tahsin Stefan Barakat

Eur J Hum Genet. 2024 Mar; 32(3): 350–356. Published online 2024 Jan 10. doi: 10.1038/s41431-023-01530-6

PMCID:: PMC10923854

Abstract Article PDF–1.6M

Select item 107494982.

A 14-year-old male patient with diagnosis of Prader–Willi syndrome in Ethiopia: a case report

Kibret Enyew Belay, Beza Leulseged Ayalew, Melaku Taye Amogne, Theodros Aberra Alemneh, Tedla Kebede Geletew

J Med Case Rep. 2023; 17: 530. Published online 2023 Dec 25. doi: 10.1186/s13256-023-04282-5

PMCID:: PMC10749498

Abstract Article PDF–751K

Select item 100022053.

Prader–Willi Syndrome and Chromosome 15q11.2 BP1-BP2 Region: A Review

Merlin G. Butler

Int J Mol Sci. 2023 Mar; 24(5): 4271. Published online 2023 Feb 21. doi: 10.3390/ijms24054271

PMCID:: PMC10002205

Abstract Article PDF–1.1M

Select item 95442044.

Atypical presentation of Angelman syndrome with intact expressive language due to low‐level mosaicism

Ruchi Punatar, Alena Egense, Rong Mao, Melinda Procter, Michelle Bosworth, Denise I. Quigley, Kathleen Angkustsiri, Suma P. Shankar

Mol Genet Genomic Med. 2022 Oct; 10(10): e2018. Published online 2022 Aug 4. doi: 10.1002/mgg3.2018

PMCID:: PMC9544204

Abstract Article PDF–818K

Select item 92083135.

Proteins and proteases of Prader–Willi syndrome: a comprehensive review and perspectives

Sanjukta Basak, Ajoy Basak

Biosci Rep. 2022 Jun 30; 42(6): BSR20220610. Published online 2022 Jun 17. doi: 10.1042/BSR20220610

PMCID:: PMC9208313

Abstract Article PDF–1.3M

Select item 88806786.

Dietary Conjugated Linoleic Acid Reduces Body Weight and Fat in Snord116^m+/p− and Snord116^m−/p− Mouse Models of Prader–Willi Syndrome

Brittney Knott, Matthew A. Kocher, Henry A. Paz, Shelby E. Hamm, William Fink, Jordan Mason, Robert W. Grange, Umesh D. Wankhade, Deborah J. Good

Nutrients. 2022 Feb; 14(4): 860. Published online 2022 Feb 18. doi: 10.3390/nu14040860

PMCID:: PMC8880678

Abstract Article PDF–4.1M

Select item 88648857.

Craniofacial and dentoalveolar morphology in individuals with Prader–Willi syndrome: a case-control study

Gisela Vasconcelos, Jo S. Stenehjem, Stefan Axelsson, Ronnaug Saeves

Orphanet J Rare Dis. 2022; 17: 77. Published online 2022 Feb 22. doi: 10.1186/s13023-022-02222-y

PMCID:: PMC8864885

Abstract Article PDF–947K

Select item 76893008.

Specific ZNF274 binding interference at SNORD116 activates the maternal transcripts in Prader-Willi syndrome neurons

Maéva Langouët, Dea Gorka, Clarisse Orniacki, Clémence M Dupont-Thibert, Michael S Chung, Heather R Glatt-Deeley, Noelle Germain, Leann J Crandall, Justin L Cotney, Christopher E Stoddard, Marc Lalande, Stormy J Chamberlain

Hum Mol Genet. 2020 Oct 1; 29(19): 3285–3295. Published online 2020 Sep 25. doi: 10.1093/hmg/ddaa210

PMCID:: PMC7689300

Abstract Article PDF–1.0M

Select item 75491449.

Maternal obesity causes fetal hypothalamic insulin resistance and disrupts development of hypothalamic feeding pathways

L Dearden, S Buller, IC Furigo, D.S. Fernandez-Twinn, SE Ozanne

Mol Metab. 2020 Dec; 42: 101079. Published online 2020 Sep 9. doi: 10.1016/j.molmet.2020.101079

PMCID:: PMC7549144

Abstract Article PDF–850K

Select item 658003710.

Possibility of early diagnosis in a fetus affected by Prader-Willi syndrome with maternal hetero-UPD15: A lesson to be learned

Yanling Dong, Shu Liu, Junnan Li, Jian Li, Qian Chen, Jianyun Luo, Chunlei Li, Huifan Li, Hongbo Qi, Rong Li

Mol Med Rep. 2019 Jul; 20(1): 95–102. Published online 2019 May 15. doi: 10.3892/mmr.2019.10246

PMCID:: PMC6580037

Abstract Article PDF–664K

Select item 652020911.

Cognitive deficits in the Snord116 deletion mouse model for Prader-Willi syndrome

Anna Adhikari, Nycole A. Copping, Beth Onaga, Michael C. Pride, Rochelle L. Coulson, Mu Yang, Dag H. Yasui, Janine M. LaSalle, Jill L. Silverman

Neurobiol Learn Mem. Author manuscript; available in PMC 2019 Nov 23.

Published in final edited form as: Neurobiol Learn Mem. 2019 Nov; 165: 106874. Published online 2018 May 23. doi: 10.1016/j.nlm.2018.05.011

PMCID:: PMC6520209

Abstract Article PDF–745K

Select item 519970712.

Impaired prohormone processing: a grand unified theory for features of Prader-Willi syndrome?

Joseph Polex-Wolf, Giles S.H. Yeo, Stephen O’Rahilly

J Clin Invest. 2017 Jan 3; 127(1): 98–99. Published online 2016 Dec 12. doi: 10.1172/JCI91307

PMCID:: PMC5199707

Abstract Article PDF–58K

Select item 463025513.

Prader-Willi syndrome: a review of clinical, genetic, and endocrine findings

M. A. Angulo, M. G. Butler, M. E. Cataletto

J Endocrinol Invest. 2015; 38: 1249–1263. Published online 2015 Jun 11. doi: 10.1007/s40618-015-0312-9

PMCID:: PMC4630255

Abstract Article PDF–855K

Select item 420891714.

Pre- and Postnatal Calorie Restriction Perturbs Early Hypothalamic Neuropeptide and Energy Balance

Bo-Chul Shin, Yun Dai, Manikkavasagar Thamotharan, L. Caroline Gibson, Sherin U. Devaskar

J Neurosci Res. Author manuscript; available in PMC 2014 Oct 24.

Published in final edited form as: J Neurosci Res. 2012 Jun; 90(6): 1169–1182. Published online 2012 Mar 2. doi: 10.1002/jnr.23013

PMCID:: PMC4208917

Abstract Article PDF–2.0M

Select item 323673915.

Hyperactive Neuroendocrine Secretion Causes Size, Feeding, and Metabolic Defects of C. elegans Bardet-Biedl Syndrome Mutants

Brian H. Lee, Jason Liu, Daisy Wong, Supriya Srinivasan, Kaveh Ashrafi

PLoS Biol. 2011 Dec; 9(12): e1001219. Published online 2011 Dec 13. doi: 10.1371/journal.pbio.1001219

PMCID:: PMC3236739

Abstract Article PDF–1.5M

Select item 310888316.

Large, rare chromosomal deletions associated with severe early-onset obesity

Elena G. Bochukova, Ni Huang, Julia Keogh, Elana Henning, Carolin Purmann, Kasia Blaszczyk, Sadia Saeed, Julian Hamilton-Shield, Jill Clayton-Smith, Stephen O’Rahilly, Matthew E. Hurles, I. Sadaf Farooqi

Nature. Author manuscript; available in PMC 2011 Jun 6.

Published in final edited form as: Nature. 2010 Feb 4; 463(7281): 666–670. Published online 2009 Dec 6. doi: 10.1038/nature08689

PMCID:: PMC3108883

Abstract Article PDF–1.0M

Select item 290360517.

Chromosome 16p11.2 deletions: another piece in the genetic puzzle of childhood obesity

Laura Perrone, Pierluigi Marzuillo, Anna Grandone, Emanuele Miraglia del Giudice

Ital J Pediatr. 2010; 36: 43. Published online 2010 Jun 11. doi: 10.1186/1824-7288-36-43

PMCID:: PMC2903605

Abstract Article PDF–322K

Select item 267019718.

Clinical and Molecular Genetic Spectrum of Congenital Deficiency of the Leptin Receptor

I. Sadaf Farooqi, Teresia Wangensteen, Stephan Collins, Wendy Kimber, Giuseppe Matarese, Julia M. Keogh, Emma Lank, Bill Bottomley, Judith Lopez-Fernandez, Ivan Ferraz-Amaro, Mehul T. Dattani, Oya Ercan, Anne Grethe Myhre, Lars Retterstol, Richard Stanhope, Julie A. Edge, Sheila McKenzie, Nader Lessan, Maryam Ghodsi, Veronica De Rosa, Francesco Perna, Silvia Fontana, Inês Barroso, Dag E. Undlien, Stephen O'Rahilly

N Engl J Med. Author manuscript; available in PMC 2009 Apr 17.

Published in final edited form as: N Engl J Med. 2007 Jan 18; 356(3): 237–247. doi: 10.1056/NEJMoa063988

PMCID:: PMC2670197

Abstract Article PDF–765K

Select item 474636319.

Small 6q16.1 Deletions Encompassing POU3F2 Cause Susceptibility to Obesity and Variable Developmental Delay with Intellectual Disability

Paul R. Kasher, Katherine E. Schertz, Megan Thomas, Adam Jackson, Silvia Annunziata, María J. Ballesta-Martinez, Philippe M. Campeau, Peter E. Clayton, Jennifer L. Eaton, Tiziana Granata, Encarna Guillén-Navarro, Cristina Hernando, Caroline E. Laverriere, Agne Liedén, Olaya Villa-Marcos, Meriel McEntagart, Ann Nordgren, Chiara Pantaleoni, Céline Pebrel-Richard, Catherine Sarret, Francesca L. Sciacca, Ronnie Wright, Bronwyn Kerr, Eric Glasgow, Siddharth Banka

Am J Hum Genet. 2016 Feb 4; 98(2): 363–372. Published online 2016 Jan 28. doi: 10.1016/j.ajhg.2015.12.014

PMCID:: PMC4746363

Abstract Article PDF–1.1M

Select item 280361820.

Development of obesity in the Otsuka Long-Evans Tokushima Fatty rat

Mariana Schroeder, Orna Zagoory-Sharon, Liat Shbiro, Asaf Marco, Jayson Hyun, Timothy H. Moran, Sheng Bi, Aron Weller

Am J Physiol Regul Integr Comp Physiol. 2009 Dec; 297(6): R1749–R1760. Published online 2009 Sep 30. doi: 10.1152/ajpregu.00461.2009

PMCID:: PMC2803618

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