Prader-Willi syndrome.

Chromosome breakage in the Prader-Willi and Angelman syndromes involves recombination between large, transcribed repeats at proximal and distal breakpoints. Am J Hum Genet (1999) 2.71

Child health, developmental plasticity, and epigenetic programming. Endocr Rev (2010) 2.15

An imprinted, mammalian bicistronic transcript encodes two independent proteins. Proc Natl Acad Sci U S A (1999) 2.05

Imprinting-mutation mechanisms in Prader-Willi syndrome. Am J Hum Genet (1999) 1.93

Neuroendocrine secretory protein 7B2: structure, expression and functions. Biochem J (2001) 1.85

A very large protein with diverse functional motifs is deficient in rjs (runty, jerky, sterile) mice. Proc Natl Acad Sci U S A (1998) 1.46

The interstitial duplication 15q11.2-q13 syndrome includes autism, mild facial anomalies and a characteristic EEG signature. Autism Res (2013) 1.36

A 9-year-old male with a duplication of chromosome 3p25.3p26.2: clinical report and gene expression analysis. Am J Med Genet A (2006) 1.03

Self-injurious behavior and Prader-Willi syndrome: behavioral forms and body locations. Am J Ment Retard (1999) 1.02

Hypogonadism and pubertal development in Prader-Willi syndrome. Eur J Pediatr (2003) 0.99

Clinical implications of gait analysis in the rehabilitation of adult patients with "Prader-Willi" Syndrome: a cross-sectional comparative study ("Prader-Willi" Syndrome vs matched obese patients and healthy subjects). J Neuroeng Rehabil (2007) 0.98

Plasma peptide YY and ghrelin levels in infants and children with Prader-Willi syndrome. J Pediatr Endocrinol Metab (2004) 0.98

Multidisciplinary assessment and treatment of self-injurious behavior in autism spectrum disorder and intellectual disability: integration of psychological and biological theory and approach. J Autism Dev Disord (2015) 0.97

Altered functional brain networks in Prader-Willi syndrome. NMR Biomed (2013) 0.91

Oxytocin may be useful to increase trust in others and decrease disruptive behaviours in patients with Prader-Willi syndrome: a randomised placebo-controlled trial in 24 patients. Orphanet J Rare Dis (2011) 0.90

Necdin enhances muscle reconstitution of dystrophic muscle by vessel-associated progenitors, by promoting cell survival and myogenic differentiation. Cell Death Differ (2011) 0.87

Separate necdin domains bind ARNT2 and HIF1alpha and repress transcription. Biochem Biophys Res Commun (2007) 0.85

From genotype to phenotype: genetics and medical practice in the new millennium. Philos Trans R Soc Lond B Biol Sci (1999) 0.85

Decreased bone mineral density in Prader-Willi syndrome: comparison with obese subjects. Am J Med Genet (2001) 0.84

Sleep, plasticity and the pathophysiology of neurodevelopmental disorders: the potential roles of protein synthesis and other cellular processes. Brain Sci (2014) 0.83

Do the interactions between glucocorticoids and sex hormones regulate the development of the metabolic syndrome? Front Endocrinol (Lausanne) (2012) 0.83

Nutritient intake of young children with Prader-Willi syndrome. Food Nutr Res (2010) 0.82

Does the brain shrink as the waist expands? Ageing Res Rev (2014) 0.82

The imprinted NPAP1 gene in the Prader-Willi syndrome region belongs to a POM121-related family of retrogenes. Genome Biol Evol (2014) 0.80

E3 ubiquitin ligase E6AP negatively regulates adipogenesis by downregulating proadipogenic factor C/EBPalpha. PLoS One (2013) 0.79

Different distribution of the genetic subtypes of the Prader-Willi syndrome in the elderly. Eur J Hum Genet (2010) 0.79

Systematic review of the clinical and genetic aspects of Prader-Willi syndrome. Korean J Pediatr (2011) 0.78

Clinical and genetic features of Prader-Willi syndrome in China. Eur J Pediatr (2013) 0.78

A preliminary analysis of the phenomenology of skin-picking in Prader-Willi syndrome. Child Psychiatry Hum Dev (2010) 0.78

DBS for Obesity. Brain Sci (2016) 0.78

Prader-Willi Critical Region, a Non-Translated, Imprinted Central Regulator of Bone Mass: Possible Role in Skeletal Abnormalities in Prader-Willi Syndrome. PLoS One (2016) 0.78

Rapid birth-and-death evolution of imprinted snoRNAs in the Prader-Willi syndrome locus: implications for neural development in Euarchontoglires. PLoS One (2014) 0.77

Autism spectrum disorders and hyperactive/impulsive behaviors in Japanese patients with Prader-Willi syndrome: a comparison between maternal uniparental disomy and deletion cases. Am J Med Genet A (2014) 0.77

Axial and appendicular body proportions for evaluation of limb and trunk asymmetry. Acta Orthop (2016) 0.75

The association between primary tooth emergence and anthropometric measures in young adults: findings from a large prospective cohort study. PLoS One (2014) 0.75

Molecular basis of genetic neuropsychiatric disorders. Child Adolesc Psychiatr Clin N Am (2007) 0.75

Clinical and Molecular Characterization of Prader-Willi Syndrome. Indian J Pediatr (2017) 0.75

A Review of the Safety, Efficacy and Mechanisms of Delivery of Nasal Oxytocin in Children: Therapeutic Potential for Autism and Prader-Willi Syndrome, and Recommendations for Future Research. Paediatr Drugs (2017) 0.75

UBE3A/E6-AP mutations cause Angelman syndrome. Nat Genet (1997) 5.97

Prader-Willi syndrome: consensus diagnostic criteria. Pediatrics (1993) 4.86

Genetic imprinting suggested by maternal heterodisomy in nondeletion Prader-Willi syndrome. Nature (1989) 4.72

De novo truncating mutations in E6-AP ubiquitin-protein ligase gene (UBE3A) in Angelman syndrome. Nat Genet (1997) 4.65

Deletions of chromosome 15 as a cause of the Prader-Willi syndrome. N Engl J Med (1981) 4.25

Deletions of a differentially methylated CpG island at the SNRPN gene define a putative imprinting control region. Nat Genet (1994) 4.04

Inherited microdeletions in the Angelman and Prader-Willi syndromes define an imprinting centre on human chromosome 15. Nat Genet (1995) 3.79

Prader-Willi syndrome: current understanding of cause and diagnosis. Am J Med Genet (1990) 2.77

Uniparental disomy in humans: development of an imprinting map and its implications for prenatal diagnosis. Hum Mol Genet (1995) 2.68

Gene structure, DNA methylation, and imprinted expression of the human SNRPN gene. Am J Hum Genet (1996) 2.41

Angelman syndrome: consensus for diagnostic criteria. Angelman Syndrome Foundation. Am J Med Genet (1995) 2.34

Methylation-specific PCR simplifies imprinting analysis. Nat Genet (1997) 2.33

Comparison of high resolution chromosome banding and fluorescence in situ hybridization (FISH) for the laboratory evaluation of Prader-Willi syndrome and Angelman syndrome. Am J Med Genet (1994) 2.30

Molecular, cytogenetic, and clinical investigations of Prader-Willi syndrome patients. Am J Hum Genet (1991) 2.25

Functional imprinting and epigenetic modification of the human SNRPN gene. Hum Mol Genet (1993) 1.84

Imprinting mutations suggested by abnormal DNA methylation patterns in familial Angelman and Prader-Willi syndromes. Am J Hum Genet (1994) 1.79

The frequency of uniparental disomy in Prader-Willi syndrome. Implications for molecular diagnosis. N Engl J Med (1992) 1.78

Minimal definition of the imprinting center and fixation of chromosome 15q11-q13 epigenotype by imprinting mutations. Proc Natl Acad Sci U S A (1996) 1.76

Physical features of Prader-Willi syndrome in neonates. Am J Dis Child (1990) 1.61

Small nuclear ribonucleoprotein polypeptide N (SNRPN), an expressed gene in the Prader-Willi syndrome critical region. Nat Genet (1992) 1.57

Energy expenditure and body composition in Prader-Willi syndrome. Metabolism (1988) 1.54

Adults with Prader-Willi syndrome: a survey of 232 cases. Dev Med Child Neurol (1987) 1.54

Trisomy 15 with loss of the paternal 15 as a cause of Prader-Willi syndrome due to maternal disomy. Am J Hum Genet (1992) 1.50

Validation studies of SNRPN methylation as a diagnostic test for Prader-Willi syndrome. Am J Med Genet (1996) 1.43

Angelman syndrome. J Med Genet (1992) 1.42

Prader-Willi syndrome. Curr Probl Pediatr (1984) 1.39

Comparison of phenotype between patients with Prader-Willi syndrome due to deletion 15q and uniparental disomy 15. Am J Med Genet (1997) 1.35

Hypopigmentation in the Prader-Willi syndrome. Am J Hum Genet (1987) 1.24

Hypopigmentation in the Prader-Willi syndrome correlates with P gene deletion but not with haplotype of the hemizygous P allele. Am J Med Genet (1997) 1.15

Analysis of parent of origin specific DNA methylation at SNRPN and PW71 in tissues: implication for prenatal diagnosis. J Med Genet (1996) 1.13

Hypopigmentation: a common feature of Prader-Labhart-Willi syndrome. Am J Hum Genet (1989) 1.12

Uniparental disomy 15 resulting from "correction" of an initial trisomy 15. Am J Hum Genet (1992) 1.10

Comparison of high resolution cytogenetics, fluorescence in situ hybridisation, and DNA studies to validate the diagnosis of Prader-Willi and Angelman's syndromes. Arch Dis Child (1995) 1.08

Clinical spectrum and molecular diagnosis of Angelman and Prader-Willi syndrome patients with an imprinting mutation. Am J Med Genet (1997) 1.07

DNA methylation based testing of 450 patients suspected of having Prader-Willi syndrome. J Med Genet (1995) 1.05

Genomic imprinting and uniparental disomy in Angelman and Prader-Willi syndromes: a review. Am J Med Genet (1993) 1.04

Prevalence study of Prader-Willi syndrome in North Dakota. Am J Med Genet (1990) 1.03

Characteristics of abnormal food-intake patterns in children with Prader-Willi syndrome and study of effects of naloxone. Am J Clin Nutr (1987) 1.02

Food and children with Prader-Willi syndrome. Am J Dis Child (1976) 1.02

Prenatal diagnosis of uniparental disomy 15 following trisomy 15 mosaicism. Prenat Diagn (1996) 1.01

Profiles, correlates, and trajectories of intelligence in Prader-Willi syndrome. J Am Acad Child Adolesc Psychiatry (1992) 0.97

Genotype-phenotype correlation in a series of 167 deletion and non-deletion patients with Prader-Willi syndrome. Hum Genet (1995) 0.96

Correlates of maladaptive behavior in children and adults with Prader-Willi syndrome. Am J Med Genet (1995) 0.93

Prader-Willi and other syndromes associated with obesity and mental retardation. Behav Genet (1997) 0.90

Diagnostic test for the Prader-Willi syndrome by SNRPN expression in blood. Lancet (1996) 0.90

Comparison of phenotype in uniparental disomy and deletion Prader-Willi syndrome: sex specific differences. Am J Med Genet (1996) 0.87

Growth hormone secretion and effects of growth hormone therapy on growth velocity and weight gain in children with Prader-Willi syndrome. J Pediatr Endocrinol Metab (1997) 0.86

Developmental trends of sleep-disordered breathing in Prader-Willi syndrome: the role of obesity. Am J Med Genet (1995) 0.82

Differentiated recurrence risk estimations in the Prader-Willi syndrome. Clin Genet (1992) 0.81

Delayed diagnosis in patients with Prader-Willi syndrome due to maternal uniparental disomy 15. Am J Med Genet (1997) 0.79

Molecular diagnosis of Prader-Willi syndrome: comparison of cytogenetic and molecular genetic data including parent of origin dependent methylation DNA patterns. Am J Med Genet (1996) 0.77