PWS Natural History Protocol

Prader-Willi phenotype caused by paternal deficiency for the HBII-85 C/D box small nucleolar RNA cluster

T. Sahoo, D. Gaudio, J. German, et al.. (2008). Nature Genetics. Cited 594 times. https://doi.org/10.1038/ng.158

Recommendations for the diagnosis and management of Prader-Willi syndrome.

A. P. Goldstone, Anthony J. Holland, Berthold P. Hauffa, et al.. (2008). The Journal of clinical endocrinology and metabolism. Cited 450 times. https://doi.org/10.1210/jc.2008-0649

Nutritional phases in Prader–Willi syndrome

Jennifer L Miller, Christy H Lynn, Danielle C. Driscoll, et al.. (2011). American Journal of Medical Genetics Part A. Cited 380 times. https://doi.org/10.1002/ajmg.a.33951

Prader–Willi syndrome: clinical genetics, cytogenetics and molecular biology

D. Bittel, M. Butler. (2005). Expert Reviews in Molecular Medicine. Cited 315 times. https://doi.org/10.1017/S1462399405009531

Prader–Willi syndrome

Suzanne B. Cassidy, Daniel J. Driscoll. (2009). European Journal of Human Genetics. Cited 225 times. https://doi.org/10.1038/ejhg.2008.165

Assessment of Hyperphagia in Prader‐Willi Syndrome

E. Dykens, Melissa A. Maxwell, Elizabeth Pantino, et al.. (2007). Obesity. Cited 180 times. https://doi.org/10.1038/oby.2007.216

Energy expenditure and physical activity in Prader–Willi syndrome: Comparison with obese subjects

M. Butler, M. Theodoro, D. Bittel, et al.. (2007). American Journal of Medical Genetics Part A. Cited 162 times. https://doi.org/10.1002/ajmg.a.31507

Short-term effects of growth hormone on sleep abnormalities in Prader-Willi syndrome.

Jennifer L Miller, J. Silverstein, J. Shuster, et al.. (2006). The Journal of clinical endocrinology and metabolism. Cited 135 times. https://doi.org/10.1210/JC.2005-1279

Behavior in Prader-Willi syndrome: relationship to genetic subtypes and age.

E. Dykens, E. Roof. (2008). Journal of child psychology and psychiatry, and allied disciplines. Cited 135 times. https://doi.org/10.1111/j.1469-7610.2008.01913.x

Critical Analysis of Bariatric Procedures in Prader-Willi Syndrome

A. Scheimann, M. G. Butler, L. Gourash, et al.. (2008). Journal of Pediatric Gastroenterology and Nutrition. Cited 132 times. https://doi.org/10.1097/01.mpg.0000304458.30294.31

Satiety dysfunction in Prader-Willi syndrome demonstrated by fMRI

N. Shapira, M. Lessig, A. He, et al.. (2005). Journal of Neurology, Neurosurgery & Psychiatry. Cited 130 times. https://doi.org/10.1136/jnnp.2004.039024

Enhanced activation of reward mediating prefrontal regions in response to food stimuli in Prader–Willi syndrome

Jennifer L Miller, G. James, A. Goldstone, et al.. (2006). Journal of Neurology, Neurosurgery & Psychiatry. Cited 128 times. https://doi.org/10.1136/jnnp.2006.099044

Body Composition and Fatness Patterns in Prader‐Willi Syndrome: Comparison with Simple Obesity

M. Theodoro, Z. Talebizadeh, M. Butler. (2006). Obesity. Cited 112 times. https://doi.org/10.1038/oby.2006.193

Expression of 4 Genes Between Chromosome 15 Breakpoints 1 and 2 and Behavioral Outcomes in Prader-Willi Syndrome

D. Bittel, N. Kibiryeva, M. Butler. (2006). Pediatrics. Cited 111 times. https://doi.org/10.1542/peds.2006-0424

Maladaptive behaviors and risk factors among the genetic subtypes of Prader–Willi syndrome

S. Hartley, W. Maclean, M. G. Butler, et al.. (2005). American Journal of Medical Genetics Part A. Cited 110 times. https://doi.org/10.1002/ajmg.a.30771

Gastric Rupture and Necrosis in Prader-Willi Syndrome

D. Stevenson, Janalee Heinemann, M. Angulo, et al.. (2007). Journal of Pediatric Gastroenterology and Nutrition. Cited 110 times. https://doi.org/10.1097/MPG.0b013e31805b82b5

Insulin resistance and obesity‐related factors in Prader–Willi syndrome: Comparison with obese subjects

Z. Talebizadeh, M. Butler. (2004). Clinical Genetics. Cited 106 times. https://doi.org/10.1111/j.1399-0004.2004.00392.x

Deficiency of Rbbp1/Arid4a and Rbbp1l1/Arid4b alters epigenetic modifications and suppresses an imprinting defect in the PWS/AS domain.

Mei-Yi Wu, T. Tsai, A. Beaudet. (2006). Genes & development. Cited 106 times. https://doi.org/10.1101/GAD.1452206

X chromosome gene expression in human tissues: male and female comparisons.

Z. Talebizadeh, S. D. Simon, M. Butler. (2006). Genomics. Cited 93 times. https://doi.org/10.1016/j.ygeno.2006.07.016

Circulating adiponectin levels, body composition and obesity-related variables in Prader–Willi syndrome: comparison with obese subjects

L. Kennedy, D. Bittel, N. Kibiryeva, et al.. (2006). International Journal of Obesity. Cited 92 times. https://doi.org/10.1038/sj.ijo.0803115

Intracranial abnormalities detected by three‐dimensional magnetic resonance imaging in Prader–Willi syndrome

Jennifer L Miller, Jessica A. Couch, I. Schmalfuss, et al.. (2007). American Journal of Medical Genetics Part A. Cited 91 times. https://doi.org/10.1002/ajmg.a.31508

Whole genome microarray analysis of gene expression in Prader–Willi syndrome

D. Bittel, N. Kibiryeva, S. Sell, et al.. (2007). American Journal of Medical Genetics Part A. Cited 84 times. https://doi.org/10.1002/ajmg.a.31606

Array comparative genomic hybridization (aCGH) analysis in Prader–Willi syndrome

M. Butler, William Fischer, N. Kibiryeva, et al.. (2008). American Journal of Medical Genetics Part A. Cited 81 times. https://doi.org/10.1002/ajmg.a.32249

Effects of topiramate in adults with Prader-Willi syndrome.

N. Shapira, M. Lessig, Mark H Lewis, et al.. (2004). American journal of mental retardation : AJMR. Cited 76 times. https://doi.org/10.1352/0895-8017(2004)109<301:EOTIAW>2.0.CO;2

The relationship between compulsive behaviour and academic achievement across the three genetic subtypes of Prader-Willi syndrome.

J. Zarcone, Deborah A. Napolitano, C. Peterson, et al.. (2007). Journal of intellectual disability research : JIDR. Cited 67 times. https://doi.org/10.1111/J.1365-2788.2006.00916.X

Plasma obestatin and ghrelin levels in subjects with Prader–Willi syndrome

M. G. Butler, D. Bittel. (2007). American Journal of Medical Genetics Part A. Cited 64 times. https://doi.org/10.1002/ajmg.a.31687

Deaths due to choking in Prader–Willi syndrome

D. Stevenson, Janalee Heinemann, M. Angulo, et al.. (2007). American Journal of Medical Genetics Part A. Cited 64 times. https://doi.org/10.1002/ajmg.a.31502

Deaths due to choking in Prader–Willi syndrome

D. Stevenson, Janalee Heinemann, M. Angulo, et al.. (2007). American Journal of Medical Genetics Part A. Cited 64 times. https://doi.org/10.1002/ajmg.a.31502

Neurocognitive findings in Prader-Willi syndrome and early-onset morbid obesity.

Jennifer L Miller, J. Kranzler, Yijun Liu, et al.. (2006). The Journal of pediatrics. Cited 61 times. https://doi.org/10.1016/J.JPEDS.2006.04.013

Management of obesity in Prader–Willi syndrome

M. Butler. (2006). Nature Clinical Practice Endocrinology &Metabolism. Cited 61 times. https://doi.org/10.1038/ncpendmet0320

Thyroid function studies in Prader–Willi syndrome

M. Butler, M. Theodoro, J. Skouse. (2007). American Journal of Medical Genetics Part A. Cited 59 times. https://doi.org/10.1002/ajmg.a.31683

Growth Standards of Infants With Prader-Willi Syndrome

M. Butler, Jennifer Sturich, Jaehoon Lee, et al.. (2011). Pediatrics. Cited 57 times. https://doi.org/10.1542/peds.2010-2736

Characterization of cis- and trans-acting elements in the imprinted human SNURF-SNRPN locus

Sara Rodriguez-Jato, R. Nicholls, D. J. Driscoll, et al.. (2005). Nucleic Acids Research. Cited 46 times. https://doi.org/10.1093/nar/gki786

Whole genome microarray analysis of gene expression in an imprinting center deletion mouse model of Prader–Willi syndrome

D. Bittel, N. Kibiryeva, S. McNulty, et al.. (2007). American Journal of Medical Genetics Part A. Cited 34 times. https://doi.org/10.1002/ajmg.a.31504

'Hungry Eyes': visual processing of food images in adults with Prader-Willi syndrome.

Alexandra P. Key, E. M. Dykens. (2008). Journal of intellectual disability research : JIDR. Cited 33 times. https://doi.org/10.1111/j.1365-2788.2008.01062.x

Trimethylation of Histone H3 Lysine 4 is an Epigenetic Mark at Regions Escaping Mammalian X Inactivation

A. Khalil, D. J. Driscoll. (2007). Epigenetics. Cited 27 times. https://doi.org/10.4161/epi.2.2.4612

X‐chromosome inactivation patterns in females with Prader–Willi syndrome

M. G. Butler, M. Theodoro, D. Bittel, et al.. (2007). American Journal of Medical Genetics Part A. Cited 25 times. https://doi.org/10.1002/ajmg.a.31506

Ghrelin, peptide YY and their receptors: gene expression in brain from subjects with and without Prader-Willi syndrome.

Z. Talebizadeh, N. Kibiryeva, D. Bittel, et al.. (2005). International journal of molecular medicine. Cited 21 times. https://doi.org/10.3892/IJMM.15.4.707

A measure of food seeking in individuals with Prader-Willi syndrome.

J. Young, J. Zarcone, Laura M. Holsen, et al.. (2006). Journal of intellectual disability research : JIDR. Cited 21 times. https://doi.org/10.1111/J.1365-2788.2005.00724.X

Genomic analysis of the chromosome 15q11-q13 Prader-Willi syndrome region and characterization of transcripts for GOLGA8E and WHCD1L1 from the proximal breakpoint region

Yong-hui Jiang, Kekio Wauki, Qian Liu, et al.. (2008). BMC Genomics. Cited 21 times. https://doi.org/10.1186/1471-2164-9-50

Sylvian fissure morphology in Prader-Willi syndrome and early-onset morbid obesity

Jennifer L Miller, Jessica A. Couch, C. M. Leonard, et al.. (2007). Genetics in Medicine. Cited 20 times. https://doi.org/10.1097/GIM.0b013e31812f720d

Follicle stimulating and leutinizing hormones, estradiol and testosterone in Prader–Willi syndrome

D. Brandau, M. Theodoro, U. Garg, et al.. (2008). American Journal of Medical Genetics Part A. Cited 15 times. https://doi.org/10.1002/ajmg.a.32194

TPH2 G/T polymorphism is associated with hyperphagia, IQ, and internalizing problems in Prader-Willi syndrome.

E. Dykens, E. Roof, D. Bittel, et al.. (2011). Journal of child psychology and psychiatry, and allied disciplines. Cited 15 times. https://doi.org/10.1111/j.1469-7610.2011.02365.x

“Efficacy of Laparoscopic Sleeve Gastrectomy as a Stand-alone Technique for Children with Morbid Obesity” and “BioEnterics® Intragastric Balloon for Treatment of Morbid Obesity in Prader-Willi Syndrome: Specific Risks and Benefits”

A. Scheimann, M. Butler, D. Stevenson, et al.. (2009). Obesity Surgery. Cited 7 times. https://doi.org/10.1007/s11695-008-9742-1

Morning melatonin levels in Prader–Willi syndrome

M. Butler, D. Brandau, M. Theodoro, et al.. (2009). American Journal of Medical Genetics Part A. Cited 5 times. https://doi.org/10.1002/ajmg.a.33001