Prader-Willi syndrome

No abstract is available for this paper.

• Publication year

  1989

• Venue

  Genetics in Medicine

• Publication date

  1989-07-01

• Fields of study

  Medicine

• Identifiers
  DOI 10.1007/978-1-4612-3854-6PMID 22237428
• External record

  Open on Semantic Scholar

• Source metadata

  Semantic Scholar, PubMed

• No claims are published for this paper.

• No concepts are published for this paper.

• Central precocious puberty that appears to be sporadic caused by paternally inherited mutations in the imprinted gene makorin ring finger 3.

  2014cited by this paper
• Ageing in people with Prader–Willi syndrome: mortality in the UK population cohort and morbidity in an older sample of adults

  2014influential reference
• Type II diabetes and impaired glucose tolerance due to severe hyperinsulinism in patients with 1p36 deletion syndrome and a Prader-Willi-like phenotype

  2014cited by this paper
• An open‐label pilot study of N‐acetylcysteine for skin‐picking in Prader–Willi syndrome

  2014cited by this paper
• Prader-Willi-like phenotypes: a systematic review of their chromosomal abnormalities.

  2014cited by this paper
• The noncoding RNA IPW regulates the imprinted DLK1-DIO3 locus in an induced pluripotent stem cell model of Prader-Willi syndrome

  2014cited by this paper
• Truncating mutations of MAGEL2cause Prader-Willi phenotypes and autism

  2013cited by this paper
• Central precocious puberty caused by mutations in the imprinted gene MKRN3.

  2013cited by this paper
• Loss-of-function mutations in SIM1 contribute to obesity and Prader-Willi-like features.

  2013cited by this paper
• Growth hormone treatment in children with PWS

  2013cited by this paper
• Long-term effects of recombinant human growth hormone therapy in children with Prader–Willi syndrome

  2013cited by this paper
• Psychiatric Illness and Intellectual Disability in the Prader–Willi Syndrome with Different Molecular Defects - A Meta Analysis

  2013cited by this paper
• Rare variants in single-minded 1 (SIM1) are associated with severe obesity.

  2013cited by this paper
• Beneficial effects of growth hormone treatment on cognition in children with Prader-Willi syndrome: a randomized controlled trial and longitudinal study.

  2012cited by this paper
• Non-Invasive Chromosomal Evaluation (NICE) Study: results of a multicenter prospective cohort study for detection of fetal trisomy 21 and trisomy 18.

  2012cited by this paper
• Growth and development: Growth hormone therapy improves cognition in children with Prader–Willi syndrome

  2012cited by this paper
• The FSH-inhibin axis in prader-willi syndrome: heterogeneity of gonadal dysfunction

  2012cited by this paper
• Multiple forms of hypogonadism of central, peripheral or combined origin in males with Prader–Willi syndrome

  2012cited by this paper
• Letter to the Editor: Long-Term Experience with Duodenal Switch in Adolescents

  2012cited by this paper
• Chromosomal microarray analysis of functional Xq27-qter disomy and deletion 3p26.3 in a boy with Prader-Willi like features and hypotonia.

  2012cited by this paper
• Nutritional phases in Prader–Willi syndrome

  2011cited by this paper
• Decrease in acetylcholinergic neurons in the pedunculopontine tegmental nucleus in a patient with Prader‐Willi syndrome

  2011cited by this paper
• Efficacy of modafinil on excessive daytime sleepiness in Prader–Willi syndrome

  2011cited by this paper
• Growth hormone secretion among adult patients with Prader-Willi syndrome due to different genetic subtypes

  2011cited by this paper
• Child psychiatry.

  2011cited by this paper
• Physical health problems in adults with Prader–Willi syndrome

  2011cited by this paper
• Growth Standards of Infants With Prader-Willi Syndrome

  2011influential reference
• Unique and atypical deletions in Prader–Willi syndrome reveal distinct phenotypes

  2011influential reference
• Hepatoblastoma: 15-year experience and role of surgical treatment

  2011cited by this paper
• Health Supervision for Children With Prader-Willi Syndrome

  2011cited by this paper
• UPD detection using homozygosity profiling with a SNP genotyping microarray

  2011influential reference
• Ghrelin in obesity and endocrine diseases.

  2011cited by this paper
• Normal cortisol response on low-dose synacthen (1 microg) test in children with Prader Willi syndrome.

  2010cited by this paper
• Clinical management of behavioral characteristics of Prader–Willi syndrome

  2010cited by this paper
• One year of growth hormone treatment in adults with Prader-Willi syndrome improves body composition: results from a randomized, placebo-controlled study.

  2010cited by this paper
• Uniparental disomy and human disease: An overview

  2010cited by this paper
• Prader–Willi syndrome and Angelman syndrome

  2010cited by this paper
• Paternally inherited microdeletion at 15q11.2 confirms a significant role for the SNORD116 C/D box snoRNA cluster in Prader–Willi syndrome

  2010cited by this paper
• Thyroid axis dysfunction in patients with Prader‐Willi syndrome during the first 2 years of life

  2010cited by this paper
• Clinical and genetic aspects of Angelman syndrome

  2010cited by this paper
• Hypogonadism in females with Prader-Willi syndrome from infancy to adulthood: variable combinations of a primary gonadal defect and hypothalamic dysfunction.

  2010cited by this paper
• Endocrine Disorders in Children with Prader-Willi Syndrome – Data from 142 Children of the French Database

  2010cited by this paper
• Practice guidelines for the molecular analysis of Prader-Willi and Angelman syndromes

  2010cited by this paper
• Prader–Willi syndrome: sorting out the relationships between obesity, hypersomnia, and sleep apnea

  2010cited by this paper
• Normal cortisol response to high-dose synacthen and insulin tolerance test in children and adults with Prader-Willi syndrome.

  2010cited by this paper
• The Musculoskeletal Manifestations of Prader-Willi Syndrome

  2010cited by this paper
• Effects on Growth and Metabolism of Growth Hormone Treatment for 3 Years in 36 Children with Prader-Willi Syndrome

  2010cited by this paper
• Single-Case Research Designs: Methods for Clinical and Applied Settings

  2010cited by this paper
• 1p36 deletion syndrome associated with Prader–Willi‐like phenotype

  2010cited by this paper
• Mechanisms of imprint dysregulation

  2010cited by this paper
• Long-term growth hormone therapy changes the natural history of body composition and motor function in children with prader-willi syndrome.

  2010cited by this paper
• Randomized controlled trial to investigate the effects of growth hormone treatment on scoliosis in children with Prader-Willi syndrome.

  2009cited by this paper
• Is gestation in Prader-Willi syndrome affected by the genetic subtype?

  2009cited by this paper
• Primary Ovarian Dysfunction Contributes to the Hypogonadism in Women with Prader-Willi Syndrome

  2009cited by this paper
• Prader–Willi syndrome

  2009cited by this paper
• Screening for genomic rearrangements and methylation abnormalities of the 15q11-q13 region in autism spectrum disorders.

  2009cited by this paper
• Primary testicular dysfunction is a major contributor to abnormal pubertal development in males with Prader-Willi syndrome.

  2009cited by this paper
• A deletion of the HBII-85 class of small nucleolar RNAs (snoRNAs) is associated with hyperphagia, obesity and hypogonadism.

  2009cited by this paper
• Benefit of Early Commencement of Growth Hormone Therapy in Children with Prader-Willi Syndrome

  2009cited by this paper
• Maternal uniparental disomy 14 syndrome demonstrates prader-willi syndrome-like phenotype.

  2009cited by this paper
• Detailed phenotype–genotype study in five patients with chromosome 6q16 deletion: narrowing the critical region for Prader–Willi-like phenotype

  2008cited by this paper
• Suppression of pica using brief-duration physical restraint.

  2008cited by this paper
• Pituitary height and neuroradiological alterations in patients with Prader-Labhart-Willi syndrome

  2008cited by this paper
• Recommendations for the diagnosis and management of Prader-Willi syndrome.

  2008cited by this paper
• Pre-, peri- and postnatal complications in Prader-Willi syndrome in a UK sample.

  2008cited by this paper
• High prevalence of central adrenal insufficiency in patients with Prader-Willi syndrome.

  2008cited by this paper
• Concomitant therapies (glucocorticoids and sex hormones) in adult patients with growth hormone deficiency.

  2008cited by this paper
• Genomic imprinting and imprinting defects in humans.

  2008cited by this paper
• Growth Hormone Treatment of Adults with Prader-Willi Syndrome and Growth Hormone Deficiency Improves Lean Body Mass, Fractional Body Fat, and Serum Triiodothyronine without Glucose Impairment: Results from the United States Multicenter Trial

  2008cited by this paper
• Pituitary abnormalities in Prader–Willi syndrome and early onset morbid obesity

  2008cited by this paper
• Hyperghrelinemia precedes obesity in Prader-Willi syndrome.

  2008cited by this paper
• Prader-Willi phenotype caused by paternal deficiency for the HBII-85 C/D box small nucleolar RNA cluster

  2008cited by this paper
• Scoliosis in Prader–Willi syndrome: prevalence, effects of age, gender, body mass index, lean body mass and genotype

  2008cited by this paper
• A clinical note on food preference of individuals with Prader-Willi syndrome: the need for empirical research.

  2008cited by this paper
• Review of 64 cases of death in children with Prader–Willi syndrome (PWS)

  2008cited by this paper
• Randomized controlled GH trial: effects on anthropometry, body composition and body proportions in a large group of children with Prader–Willi syndrome

  2008cited by this paper
• Growth hormone treatment of adults with Prader-Willi syndrome and growth hormone deficiency improves lean body mass, fractional body fat, and serum triiodothyronine without glucose impairment: results from the United States multicenter trial.

  2008cited by this paper
• Long-acting octreotide treatment causes a sustained decrease in ghrelin concentrations but does not affect weight, behaviour and appetite in subjects with Prader-Willi syndrome.

  2008cited by this paper
• Deaths due to choking in Prader–Willi syndrome

  2007cited by this paper
• Energy expenditure and physical activity in Prader–Willi syndrome: Comparison with obese subjects

  2007cited by this paper
• Two years of growth hormone therapy in young children with Prader–Willi syndrome: Physical and neurodevelopmental benefits

  2007cited by this paper
• Five‐years growth hormone (GH) treatment in adults with Prader‐Willi syndrome

  2007cited by this paper
• Prader-Willi Syndrome: An Update and Review for the Primary Pediatrician

  2007cited by this paper
• Clinical‐etiologic correlation in children with Prader‐Willi syndrome (PWS): An interdisciplinary study

  2007cited by this paper
• The imprinted gene Magel2 regulates normal circadian output

  2007cited by this paper
• Whole genome microarray analysis of gene expression in Prader–Willi syndrome

  2007cited by this paper
• Early Diagnosis and Multidisciplinary Care Reduce the Hospitalization Time and Duration of Tube Feeding and Prevent Early Obesity in PWS Infants

  2007cited by this paper
• Gastric Rupture and Necrosis in Prader-Willi Syndrome

  2007cited by this paper
• Clinical Effects of Treatment for Hypogonadism in Male Adolescents with Prader-Labhart-Willi Syndrome

  2007cited by this paper
• Inactivation of the mouse Magel2 gene results in growth abnormalities similar to Prader-Willi syndrome.

  2007cited by this paper
• Intracranial abnormalities detected by three‐dimensional magnetic resonance imaging in Prader–Willi syndrome

  2007cited by this paper
• Final adult height in children with Prader–Willi syndrome with and without human growth hormone treatment

  2007cited by this paper
• The course and outcome of psychiatric illness in people with Prader-Willi syndrome: implications for management and treatment.

  2007cited by this paper
• Klinefelter’s Syndrome and Prader-Willi Syndrome: A Rare Combination

  2007cited by this paper
• Growth hormone treatment and adverse events in Prader–Willi syndrome: data from KIGS (the Pfizer International Growth Database)

  2007cited by this paper
• Imprinting defects on human chromosome 15

  2006cited by this paper
• Mortality in Prader-Willi syndrome.

  2006cited by this paper
• Pervasive developmental disorders in Prader–Willi syndrome: The Leuven experience in 59 subjects and controls

  2006cited by this paper
• Neurocognitive findings in Prader-Willi syndrome and early-onset morbid obesity.

  2006cited by this paper
• A long-term population-based clinical and morbidity review of Prader-Willi syndrome in Western Australia.

  2006cited by this paper

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• Clinical Presentation, Genetics, and Laboratory Testing with Integrated Genetic Analysis of Molecular Mechanisms in Prader–Willi and Angelman Syndromes: A Review

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• Understanding the burden of endocrine and metabolic disorders in Prader-Willi syndrome: data from the Italian registry.

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• Neonatal Bradypnea as an Under-Recognized Manifestation of Prader-Willi Syndrome: A Case Report

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• Genome-wide profiling of RNA 2’-O-methylation in neurons and identification of orphan snoRNA targets

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• [Obesity and genetics: advances in understanding genetic factors and their clinical impact].

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• Dual Genetic Diagnosis of Prader–Willi Syndrome and TMC1-Related Severe Congenital Hearing Loss: Diagnostic Challenges and Cochlear Implant Outcomes

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