Works matching DE "PRADER-Willi syndrome"
Results: 1235
Editorial: Endocrine aspects of Noonan syndrome and related syndromes, volume II.
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- Frontiers in Endocrinology, 2025, p. 1, doi. 10.3389/fendo.2025.1566521
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- Article
Early oxytocin treatment in infants with Prader–Willi syndrome is safe and is associated with better endocrine, metabolic and behavioral outcomes.
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- Orphanet Journal of Rare Diseases, 2025, v. 20, n. 1, p. 1, doi. 10.1186/s13023-025-03560-3
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- Article
EXPERIMENTAL RNOMICS DETECTS 36 NOVEL SNORNAS IN PLASMODIUM FALCIPARUM.
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- Malaysian Journal of Medical Sciences, 2008, p. 145
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- Article
FLUROSENCE IN SITU HYBRIDIZATION (FISH) DETECTION OF CHROMOSOME 15Q11-Q13 DELETION IN PRADER -- WILLI AND ANGELMAN SYNDROME PATIENTS.
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- Malaysian Journal of Medical Sciences, 2006, v. 13, p. 202
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- Article
Oral findings in children and adolescents with Prader-Willi syndrome.
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- Clinical Oral Investigations, 2019, v. 23, n. 3, p. 1331, doi. 10.1007/s00784-018-2559-y
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- Article
Presence of the R1748X Mutation in the NF1 Gene in a Brazilian Patient with Ectropion uveae.
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- Ophthalmic Research, 2004, v. 36, n. 6, p. 349, doi. 10.1159/000081638
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- Article
Rectal Picking Masquerading as Inflammatory Bowel Disease in Prader-Willi Syndrome.
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- 2018
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- Publication type:
- journal article
ALTERAÇÕES GENÉTICAS COMUNS NA DEFICIÊNCIA INTELECTUAL E DOENÇAS METABÓLICAS: REVISÃO SISTEMÁTICA.
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- Revista Foco (Interdisciplinary Studies Journal), 2023, v. 16, n. 9, p. 1, doi. 10.54751/revistafoco.v16n9-130
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- Article
The necdin interactome: evaluating the effects of amino acid substitutions and cell stress using proximity-dependent biotinylation (BioID) and mass spectrometry.
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- Human Genetics, 2020, v. 139, n. 12, p. 1513, doi. 10.1007/s00439-020-02193-9
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- Article
Anesthetic care during posterior spinal fusion in a patient with Prader-Willi syndrome.
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- Pediatric Anesthesia & Critical Care Journal (PACCJ), 2020, v. 8, n. 2, p. 80, doi. 10.14587/paccj.2020.13
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- Article
Motor performance in Prader-Willi syndrome patients and its potential influence on caregiver's quality of life.
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- PeerJ, 2017, p. 1, doi. 10.7717/peerj.4097
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- Article
Epigenetics and Bruxism: Possible Role of Epigenetics in the Etiology of Bruxism.
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- 2015
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- journal article
Rare neurodevelopmental disorders: your guide: How families can be key in boosting learning disability nurses' understanding of rare neurodevelopmental disorders.
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- Learning Disability Practice, 2024, v. 27, n. 1, p. 10, doi. 10.7748/ldp.27.1.10.s5
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- Article
Prader-Willi syndrome.
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- Learning Disability Practice, 2018, v. 21, n. 6, p. 14, doi. 10.7748/ldp.21.6.14.s17
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- Article
journal scan.
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- Learning Disability Practice, 2016, v. 19, n. 8, p. 9
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- Article
Research round-up.
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- Learning Disability Practice, 2014, v. 17, n. 3, p. 13, doi. 10.7748/ldp2014.03.17.3.13.s14
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- Article
Diagnosis and management of Prader-Willi syndrome.
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- 2013
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- Case Study
Prader-Willi syndrome protein necdin regulates the nucleocytoplasmic distribution and dopaminergic neuron development.
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- Scientific Reports, 2024, v. 14, n. 1, p. 1, doi. 10.1038/s41598-024-76981-y
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- Article
Hygienic behaviors and use of dental care in patients with genetic syndromes.
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- Scientific Reports, 2024, v. 14, n. 1, p. 1, doi. 10.1038/s41598-024-80922-0
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- Article
EEG Patterns in Patients with Prader–Willi Syndrome.
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- Brain Sciences (2076-3425), 2021, v. 11, n. 8, p. 1045, doi. 10.3390/brainsci11081045
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- Article
Effects of Transcranial Direct Current Stimulation (tDCS) on Go/NoGo Performance Using Food and Non-Food Stimuli in Patients with Prader–Willi Syndrome.
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- Brain Sciences (2076-3425), 2021, v. 11, n. 2, p. 250, doi. 10.3390/brainsci11020250
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- Article
Plasma adiponectin level and sleep structures in children with Prader–Willi syndrome.
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- Journal of Sleep Research, 2010, v. 19, n. 1, p. 248, doi. 10.1111/j.1365-2869.2009.00786.x
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- Article
Genetic factors in human sleep disorders with special reference to Norrie disease, Prader–Willi syndrome and Moebius syndrome.
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- Journal of Sleep Research, 1999, v. 8, p. 14, doi. 10.1046/j.1365-2869.1999.00004.x
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- Article
Prevalence of diabetes among children treated with growth hormone in Israel.
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- Diabetic Medicine, 2019, v. 36, n. 10, p. 1276, doi. 10.1111/dme.13910
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- Article
Liraglutide therapy in Prader-Willi syndrome.
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- Diabetic Medicine, 2011, v. 28, n. 6, p. 755, doi. 10.1111/j.1464-5491.2011.03280.x
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- Article
Editorial: Epigenetic mechanisms and their involvement in rare diseases, volume II.
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- Frontiers in Genetics, 2024, p. 1, doi. 10.3389/fgene.2024.1483388
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- Article
Maladaptive behaviour in Prader-Willi syndrome in adult life.
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- Journal of Intellectual Disability Research, 1996, v. 40, n. 2, p. 159, doi. 10.1111/j.1365-2788.1996.tb00617.x
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- Article
Characteristics of the eating disorder in Prader-Willi syndrome: implications for treatment.
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- Journal of Intellectual Disability Research, 1995, v. 39, n. 5, p. 373, doi. 10.1111/j.1365-2788.1995.tb00541.x
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- Publication type:
- Article
Personality profiles of youngsters with Prader-Willi syndrome and youngsters attending regular schools.
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- Journal of Intellectual Disability Research, 1995, v. 39, n. 3, p. 241, doi. 10.1111/j.1365-2788.1995.tb00506.x
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- Article
Tentative classification of neuropsychiatric disturbances in Prader-Willi syndrome.
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- Journal of Intellectual Disability Research, 1994, v. 38, n. 6, p. 621, doi. 10.1111/j.1365-2788.1994.tb00463.x
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- Article
Prader-Willi syndrome in old age.
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- Journal of Intellectual Disability Research, 1994, v. 38, n. 5, p. 529, doi. 10.1111/j.1365-2788.1994.tb00441.x
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- Article
The origin of excessive daytime sleepiness in the Prader-Willi syndrome.
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- Journal of Intellectual Disability Research, 1993, v. 37, n. 6, p. 533, doi. 10.1111/j.1365-2788.1993.tb00323.x
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- Article
Growth and developmental patterns in Prader-Willi syndrome.
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- Journal of Intellectual Disability Research, 1993, v. 37, n. 5, p. 479, doi. 10.1111/j.1365-2788.1993.tb00318.x
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- Publication type:
- Article
Suicidality and Self-Harming Behaviors in Patients with Prader-Willi Syndrome (PWS): Case Report and Literature Review.
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- 2021
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- Publication type:
- Case Study
An Atypical 15q11.2 Microdeletion Not Involving SNORD116 Resulting in Prader–Willi Syndrome.
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- 2023
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- Publication type:
- Case Study
Respiratory Failure due to Severe Obesity and Kyphoscoliosis in a 24-Year-Old Male with Molecularly Confirmed Prader-Willi Syndrome in Tertiary Hospital in Northern Tanzania.
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- 2017
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- Publication type:
- Case Study
Adult Prader-Willi Syndrome: An Update on Management.
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- 2016
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- Case Study
PWS/AS MS-MLPA Confirms Maternal Origin of 15q11.2 Microduplication.
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- Case Reports in Genetics, 2015, v. 2015, p. 1, doi. 10.1155/2015/474097
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- Article
Expanding the BP1-BP2 15q11.2 Microdeletion Phenotype: Tracheoesophageal Fistula and Congenital Cataracts.
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- Case Reports in Genetics, 2013, p. 1, doi. 10.1155/2013/801094
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- Article
Genotype-Phenotype Characterization of Wolf-Hirschhorn Syndrome Confirmed by FISH: Case Reports.
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- Case Reports in Genetics, 2012, p. 1, doi. 10.1155/2012/878796
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- Article
Behavioral services for individuals with Prader–Willi Syndrome: An initial examination of experiences, needs, and wants of caregivers.
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- Behavioral Interventions, 2023, v. 38, n. 3, p. 739, doi. 10.1002/bin.1957
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- Article
The relationship between endogenous oxytocin and vasopressin levels and the Prader-Willi syndrome behaviour phenotype endogenous oxytocin and vasopressin levels and the Prader-Willi syndrome behaviour phenotype.
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- Frontiers in Endocrinology, 2023, p. 1, doi. 10.3389/fendo.2023.1183525
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- Article
Long-term effects of GH therapy in adult patients with Prader-Willi syndrome: a longitudinal study.
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- Frontiers in Endocrinology, 2023, p. 01, doi. 10.3389/fendo.2023.1198616
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- Article
Acute stress response of the HPA-axis in children with Prader-Willi syndrome: new insights and consequences for clinical practice.
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- Frontiers in Endocrinology, 2023, p. 1, doi. 10.3389/fendo.2023.1146680
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- Article
Central precocious puberty in Prader-Willi syndrome: a narrative review.
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- Frontiers in Endocrinology, 2023, p. 1, doi. 10.3389/fendo.2023.1150323
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- Publication type:
- Article
A rare occurrence of non-classic congenital adrenal hyperplasia and type 1 diabetes mellitus in a girl with Prader-Willi Syndrome: Case report and review of the literature.
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- Frontiers in Endocrinology, 2023, v. 14, p. 01, doi. 10.3389/fendo.2023.1148318
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- Article
What endocrinologists can do to prevent cardiovascular complications in adults with Prader-Willi syndrome: Lessons from a case series.
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- Frontiers in Endocrinology, 2023, v. 14, p. 01, doi. 10.3389/fendo.2023.1145066
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- Article
Adrenal insufficiency in patients with Prader-Willi syndrome.
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- Frontiers in Endocrinology, 2022, v. 13, p. 1, doi. 10.3389/fendo.2022.1021704
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- Article
Genetic conditions of short stature: A review of three classic examples.
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- Frontiers in Endocrinology, 2022, v. 13, p. 1, doi. 10.3389/fendo.2022.1011960
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- Article
Circulating Irisin in Children and Adolescents With Prader-Willi Syndrome: Relation With Glucose Metabolism.
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- Frontiers in Endocrinology, 2022, v. 13, p. 1, doi. 10.3389/fendo.2022.918467
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- Article