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Pitolisant in an Adolescent with Prader-Willi Syndrome.
- Published in:
- Journal of Pediatric Pharmacology & Therapeutics, 2021, v. 26, n. 4, p. 405, doi. 10.5863/1551-6776-26.4.405
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- Publication type:
- Article
Compulsiones en el síndrome de Prader-Willi: presencia y gravedad en función del subtipo genético.
- Published in:
- Actas Espanolas de Psiquiatria, 2019, v. 47, n. 3, p. 79
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- Publication type:
- Article
Comparing a foetus diagnosed with Prader-Willi syndrome with non-affected foetuses during light and sound stimulation using 4D ultrasound.
- Published in:
- 2019
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- Publication type:
- journal article
Ube3a reinstatement mitigates epileptogenesis in Angelman syndrome model mice.
- Published in:
- 2019
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- Publication type:
- journal article
Cutis tricolor parvimaculata in ring chromosome 15 syndrome: A case report.
- Published in:
- Pediatric Dermatology, 2018, v. 35, n. 3, p. e204, doi. 10.1111/pde.13497
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- Publication type:
- Article
Angelman Syndrome due to a Maternally Inherited Intragenic Deletion Encompassing Exons 7 and 8 of the UBE3A Gene.
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- Cytogenetic & Genome Research, 2017, v. 152, n. 3, p. 132, doi. 10.1159/000480030
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- Publication type:
- Article
Early diagnosis and care is achieved but should be improved in infants with Prader-Willi syndrome.
- Published in:
- 2017
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- Publication type:
- journal article
Urothelial Carcinoma in a 22-Year-Old Female with Angelman Syndrome.
- Published in:
- 2017
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- Publication type:
- Case Study
Metabolic health profile in young adults with Prader-Willi syndrome: results of a 2-year randomized, placebo-controlled, crossover GH trial.
- Published in:
- Clinical Endocrinology, 2017, v. 86, n. 2, p. 297, doi. 10.1111/cen.13247
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- Publication type:
- Article
Prader-Willi syndrome mental health research strategy workshop proceedings: the state of the science and future directions.
- Published in:
- Orphanet Journal of Rare Diseases, 2016, v. 11, p. 1, doi. 10.1186/s13023-016-0504-1
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- Publication type:
- Article
Growth hormone therapy for Prader-willi syndrome: challenges and solutions.
- Published in:
- 2016
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- Publication type:
- journal article
Different Genotypes in Prader-Willi Syndrome.
- Published in:
- Journal of Clinical Research in Pediatric Endocrinology, 2015, v. 7, p. 85
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- Publication type:
- Article
Birth seasonality in Korean Prader-Willi syndrome with chromosome 15 microdeletion.
- Published in:
- Annals of Pediatric Endocrinology & Metabolism, 2015, v. 20, n. 1, p. 40, doi. 10.6065/apem.2015.20.1.40
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- Publication type:
- Article
Electroencephalogram (EEG) Duration Needed to Detect Abnormalities in Angelman Syndrome: Is 1 Hour of Overnight Recording Sufficient?
- Published in:
- Journal of Child Neurology, 2015, v. 30, n. 1, p. 58, doi. 10.1177/0883073814530498
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- Publication type:
- Article
Does des-acyl ghrelin improve glycemic control in obese diabetic subjects by decreasing acylated ghrelin levels?
- Published in:
- European Journal of Endocrinology, 2014, v. 170, n. 6, p. 799, doi. 10.1530/EJE-13-0347
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- Publication type:
- Article
The noncoding RNA IPW regulates the imprinted DLK1-DIO3 locus in an induced pluripotent stem cell model of Prader-Willi syndrome.
- Published in:
- Nature Genetics, 2014, v. 46, n. 6, p. 551, doi. 10.1038/ng.2968
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- Publication type:
- Article
Truncation of <i>Ube3a-ATS</i> Unsilences Paternal <i>Ube3a</i> and Ameliorates Behavioral Defects in the Angelman Syndrome Mouse Model.
- Published in:
- PLoS Genetics, 2013, v. 9, n. 12, p. 1, doi. 10.1371/journal.pgen.1004039
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- Publication type:
- Article
An obese young man with uncontrolled diabetes and insatiable hunger: Prader-Willi Syndrome.
- Published in:
- Indian Journal of Endocrinology & Metabolism, 2013, v. 17, n. S3, p. S680, doi. 10.4103/2230-8210.123566
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- Publication type:
- Article
Differential Gene Expression Reveals Mitochondrial Dysfunction in an Imprinting Center Deletion Mouse Model of Prader-Willi Syndrome.
- Published in:
- CTS: Clinical & Translational Science, 2013, v. 6, n. 5, p. 347, doi. 10.1111/cts.12083
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- Publication type:
- Article
Endocrine management of children with Prader-Willi syndrome.
- Published in:
- Pediatric Health, Medicine & Therapeutics, 2013, v. 4, p. 117, doi. 10.2147/PHMT.S32459
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- Publication type:
- Article
Update on Body Composition and Bone Density in Children with Prader-Willi Syndrome.
- Published in:
- Hormone Research in Paediatrics, 2013, v. 79, n. 5, p. 271, doi. 10.1159/000350525
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- Publication type:
- Article
TRABALHO FONOAUDIOLÓGICO EM OFICINA DE COZINHA EM UM CASO DE PRADER-WILLI.
- Published in:
- 2013
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- Publication type:
- Case Study
Ghrelin: the differences between acyl- and des-acyl ghrelin.
- Published in:
- European Journal of Endocrinology, 2012, v. 167, n. 5, p. 601, doi. 10.1530/EJE-12-0456
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- Publication type:
- Article
Assessment of central adrenal insufficiency in children and adolescents with Prader-Willi syndrome.
- Published in:
- Clinical Endocrinology, 2012, v. 76, n. 6, p. 843, doi. 10.1111/j.1365-2265.2011.04313.x
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- Publication type:
- Article
An Unexpected Function of the Prader-Willi Syndrome Imprinting Center in Maternal Imprinting in Mice.
- Published in:
- PLoS ONE, 2012, v. 7, n. 4, p. 1, doi. 10.1371/journal.pone.0034348
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- Publication type:
- Article
Unique and atypical deletions in Prader-Willi syndrome reveal distinct phenotypes.
- Published in:
- European Journal of Human Genetics, 2012, v. 20, n. 3, p. 283, doi. 10.1038/ejhg.2011.187
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- Publication type:
- Article
Maternal age effect on the development of Prader-Willi syndrome resulting from upd(15)mat through meiosis 1 errors.
- Published in:
- Journal of Human Genetics, 2011, v. 56, n. 8, p. 566, doi. 10.1038/jhg.2011.59
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- Publication type:
- Article
The GH/IGF-I Axis and Pituitary Function and Size in Adults with Prader-Willi Syndrome.
- Published in:
- Hormone Research in Paediatrics, 2011, v. 75, n. 6, p. 403, doi. 10.1159/000323442
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- Publication type:
- Article
PARENTS' PERSPECTIVES ON INCLUSION AND SCHOOLING OF STUDENTS WITH ANGELMAN SYNDROME: SUGGESTIONS FOR EDUCATORS.
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- International Journal of Special Education, 2011, v. 26, n. 2, p. 79
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- Publication type:
- Article
Alterations in white matter pathways in Angelman syndrome.
- Published in:
- Developmental Medicine & Child Neurology, 2011, v. 53, n. 4, p. 361, doi. 10.1111/j.1469-8749.2010.03838.x
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- Publication type:
- Article
Periodontal disease in a patient with Prader-Willi syndrome: a case report.
- Published in:
- 2011
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- Publication type:
- journal article
Neuroscience: Angelman syndrome connections.
- Published in:
- Nature, 2010, v. 468, n. 7326, p. 907, doi. 10.1038/468907a
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- Publication type:
- Article
Paternally inherited microdeletion at 15q11.2 confirms a significant role for the SNORD116 C/D box snoRNA cluster in Prader-Willi syndrome.
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- European Journal of Human Genetics, 2010, v. 18, n. 11, p. 1196, doi. 10.1038/ejhg.2010.102
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- Publication type:
- Article
PRADER-WILLI SYNDROME WITH ASSOCIATED TRIPLE-X MOSAICISM.
- Published in:
- Acta Endocrinologica (1841-0987), 2010, v. 6, n. 4, p. 521, doi. 10.4183/aeb.2010.521
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- Publication type:
- Article
Thyroid axis dysfunction in patients with Prader-Willi syndrome during the first 2 years of life.
- Published in:
- Clinical Endocrinology, 2010, v. 73, n. 4, p. 546, doi. 10.1111/j.1365-2265.2010.03840.x
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- Publication type:
- Article
Angelman Syndrome at the Synapse: Meeting Report of the Angelman Syndrome Foundation's 2009 Scientific Symposium.
- Published in:
- 2010
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- Publication type:
- Proceeding
Benefit of Early Commencement of Growth Hormone Therapy in Children with Prader-Willi Syndrome.
- Published in:
- Journal of Pediatric Endocrinology & Metabolism, 2009, v. 22, n. 12, p. 1151, doi. 10.1515/JPEM.2009.22.12.1151
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- Publication type:
- Article
Angelman syndrome: Current understanding and research prospects.
- Published in:
- Epilepsia (Series 4), 2009, v. 50, n. 11, p. 2331, doi. 10.1111/j.1528-1167.2009.02311.x
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- Publication type:
- Article
Epilepsy in Angelman syndrome: A questionnaire-based assessment of the natural history and current treatment options.
- Published in:
- Epilepsia (Series 4), 2009, v. 50, n. 11, p. 2369, doi. 10.1111/j.1528-1167.2009.02108.x
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- Publication type:
- Article
Angelman syndrome (AS, MIM 105830).
- Published in:
- European Journal of Human Genetics, 2009, v. 17, n. 11, p. 1367, doi. 10.1038/ejhg.2009.67
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- Publication type:
- Article
Mutation in the SLC9A6 gene is not a frequent cause of sporadic Angelman-like syndrome.
- Published in:
- European Journal of Human Genetics, 2009, v. 17, n. 11, p. 1378, doi. 10.1038/ejhg.2009.82
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- Publication type:
- Article
Ube3a is required for experience-dependent maturation of the neocortex.
- Published in:
- Nature Neuroscience, 2009, v. 12, n. 6, p. 777, doi. 10.1038/nn.2327
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- Publication type:
- Article
The Prevalence and Phenomenology of Repetitive Behavior in Genetic Syndromes.
- Published in:
- Journal of Autism & Developmental Disorders, 2009, v. 39, n. 4, p. 572, doi. 10.1007/s10803-008-0655-6
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- Publication type:
- Article
Genetic subtype differences in neural circuitry of food motivation in Prader-Willi syndrome.
- Published in:
- International Journal of Obesity, 2009, v. 33, n. 2, p. 273, doi. 10.1038/ijo.2008.255
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- Publication type:
- Article
AMENORREA PRIMARIA.
- Published in:
- Revista Colombiana de Obstetricia y Ginecologia, 2009, v. 60, n. 1, p. 57, doi. 10.18597/rcog.354
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- Publication type:
- Article
A computational screen for C/D box snoRNAs in the human genomic region associated with Prader-Willi and Angelman syndromes.
- Published in:
- Journal of Biomedical Science, 2008, v. 15, n. 6, p. 697, doi. 10.1007/s11373-008-9271-x
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- Publication type:
- Article
Everyday Physical Activity and Adiposity in Prader-Willi Syndrome.
- Published in:
- Journal of Pediatric Endocrinology & Metabolism, 2008, v. 21, n. 11, p. 1041, doi. 10.1515/JPEM.2008.21.11.1041
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- Publication type:
- Article
Behavior in Prader-Willi syndrome: relationship to genetic subtypes and age.
- Published in:
- Journal of Child Psychology, 2008, v. 49, n. 9, p. 1001, doi. 10.1111/j.1469-7610.2008.01913.x
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- Publication type:
- Article
Angelman Syndrome Due to a Novel Splicing Mutation of the UBE3A Gene.
- Published in:
- Journal of Child Neurology, 2008, v. 23, n. 8, p. 912, doi. 10.1177/0883073808316367
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- Publication type:
- Article
Anaesthesia for Angelman syndrome.
- Published in:
- Anaesthesia, 2008, v. 63, n. 6, p. 659, doi. 10.1111/j.1365-2044.2008.05439.x
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- Publication type:
- Article