Published in Genomics on January 01, 2005
15q11-13 GABAA receptor genes are normally biallelically expressed in brain yet are subject to epigenetic dysregulation in autism-spectrum disorders. Hum Mol Genet (2007) 1.99
Somatosensory and sensorimotor consequences associated with the heterozygous disruption of the autism candidate gene, Gabrb3. Behav Brain Res (2010) 1.09
Gene expression in cardiac tissues from infants with idiopathic conotruncal defects. BMC Med Genomics (2011) 1.07
Prader-Willi syndrome: a review of clinical, genetic, and endocrine findings. J Endocrinol Invest (2015) 1.04
Methylation profiling in individuals with uniparental disomy identifies novel differentially methylated regions on chromosome 15. Genome Res (2010) 0.97
Immunologic and neurodevelopmental susceptibilities of autism. Neurotoxicology (2008) 0.93
Differences between the pattern of developmental abnormalities in autism associated with duplications 15q11.2-q13 and idiopathic autism. J Neuropathol Exp Neurol (2012) 0.88
Coding and noncoding expression patterns associated with rare obesity-related disorders: Prader-Willi and Alström syndromes. Adv Genomics Genet (2015) 0.80
12-year-old boy with a 4q35.2 microdeletion and involvement of MTNR1A, FAT1, and F11 genes. Clin Dysmorphol (2012) 0.79
Genetic variants and monoallelic expression of surfactant protein-D in inflammatory bowel disease. Ann Hum Genet (2011) 0.78
Analysis of the Prader-Willi syndrome chromosome region using quantitative microsphere hybridization (QMH) array. Am J Med Genet A (2008) 0.77
Genomic and genic deletions of the FOX gene cluster on 16q24.1 and inactivating mutations of FOXF1 cause alveolar capillary dysplasia and other malformations. Am J Hum Genet (2009) 3.42
Prader-Willi syndrome. Genet Med (2011) 3.40
Prader-Willi syndrome. Eur J Hum Genet (2008) 2.59
Nutritional phases in Prader-Willi syndrome. Am J Med Genet A (2011) 2.08
Prader-Willi syndrome: clinical genetics, cytogenetics and molecular biology. Expert Rev Mol Med (2005) 2.04
Array comparative genomic hybridization (aCGH) analysis in Prader-Willi syndrome. Am J Med Genet A (2008) 1.96
Microdeletion/microduplication of proximal 15q11.2 between BP1 and BP2: a susceptibility region for neurological dysfunction including developmental and language delay. Hum Genet (2011) 1.94
Neural mechanisms associated with food motivation in obese and healthy weight adults. Obesity (Silver Spring) (2009) 1.88
Behavioral differences among subjects with Prader-Willi syndrome and type I or type II deletion and maternal disomy. Pediatrics (2004) 1.81
Clinical and genetic aspects of Angelman syndrome. Genet Med (2010) 1.74
Dynamic histone modifications mark sex chromosome inactivation and reactivation during mammalian spermatogenesis. Proc Natl Acad Sci U S A (2004) 1.41
Expression of 4 genes between chromosome 15 breakpoints 1 and 2 and behavioral outcomes in Prader-Willi syndrome. Pediatrics (2006) 1.36
Neural mechanisms underlying hyperphagia in Prader-Willi syndrome. Obesity (Silver Spring) (2006) 1.30
X chromosome gene expression in human tissues: male and female comparisons. Genomics (2006) 1.26
Feasibility and relevance of examining lymphoblastoid cell lines to study role of microRNAs in autism. Autism Res (2008) 1.21
Enhanced activation of reward mediating prefrontal regions in response to food stimuli in Prader-Willi syndrome. J Neurol Neurosurg Psychiatry (2006) 1.19
Neuroimaging findings in macrocephaly-capillary malformation: a longitudinal study of 17 patients. Am J Med Genet A (2007) 1.16
Do known mutations in neuroligin genes (NLGN3 and NLGN4) cause autism? J Autism Dev Disord (2004) 1.14
Autism Genetic Database (AGD): a comprehensive database including autism susceptibility gene-CNVs integrated with known noncoding RNAs and fragile sites. BMC Med Genet (2009) 1.11
ANKRD11 gene deletion in a 17-year-old male. Clin Dysmorphol (2011) 1.09
Unique and atypical deletions in Prader-Willi syndrome reveal distinct phenotypes. Eur J Hum Genet (2011) 1.07
snoTARGET shows that human orphan snoRNA targets locate close to alternative splice junctions. Gene (2007) 1.07
Methylation-specific multiplex ligation-dependent probe amplification analysis of subjects with chromosome 15 abnormalities. Genet Test (2007) 1.07
Gene expression in cardiac tissues from infants with idiopathic conotruncal defects. BMC Med Genomics (2011) 1.07
Validation of the Agilent 244K oligonucleotide array-based comparative genomic hybridization platform for clinical cytogenetic diagnosis. Am J Clin Pathol (2009) 1.07
Gastric rupture and necrosis in Prader-Willi syndrome. J Pediatr Gastroenterol Nutr (2007) 1.06
Whole genome microarray analysis of gene expression in Prader-Willi syndrome. Am J Med Genet A (2007) 1.06
Noncoding RNA expression in myocardium from infants with tetralogy of Fallot. Circ Cardiovasc Genet (2012) 1.05
Short-term effects of growth hormone on sleep abnormalities in Prader-Willi syndrome. J Clin Endocrinol Metab (2005) 1.04
Maladaptive behaviors and risk factors among the genetic subtypes of Prader-Willi syndrome. Am J Med Genet A (2005) 1.04
Whole genome microarray analysis of gene expression in subjects with fragile X syndrome. Genet Med (2007) 1.04
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
Genetic studies of complex human diseases: characterizing SNP-disease associations using Bayesian networks. BMC Syst Biol (2012) 1.00
Newborn with anophthalmia and features of Fryns syndrome. Pediatr Dev Pathol (2002) 1.00
Characterization of cis- and trans-acting elements in the imprinted human SNURF-SNRPN locus. Nucleic Acids Res (2005) 1.00
Intracranial abnormalities detected by three-dimensional magnetic resonance imaging in Prader-Willi syndrome. Am J Med Genet A (2007) 0.99
Plasma peptide YY and ghrelin levels in infants and children with Prader-Willi syndrome. J Pediatr Endocrinol Metab (2004) 0.98
Lupus-like disease and high interferon levels corresponding to trisomy of the type I interferon cluster on chromosome 9p. Arthritis Rheum (2006) 0.98
Is gestation in Prader-Willi syndrome affected by the genetic subtype? J Assist Reprod Genet (2009) 0.98
Deletion of and novel missense mutation in POU3F4 in 2 families segregating X-linked nonsyndromic deafness. Arch Otolaryngol Head Neck Surg (2005) 0.98
Mass Screening for Severe Problem Behavior among Infants and Toddlers In Peru. J Ment Health Res Intellect Disabil (2012) 0.96
Loss-of-function mutations in SIM1 contribute to obesity and Prader-Willi-like features. J Clin Invest (2013) 0.96
Body composition and fatness patterns in Prader-Willi syndrome: comparison with simple obesity. Obesity (Silver Spring) (2006) 0.96
A clinical report and further delineation of the 14q32 deletion syndrome. Clin Dysmorphol (2011) 0.95
Cytogenetic heteromorphisms: survey results and reporting practices of giemsa-band regions that we have pondered for years. Arch Pathol Lab Med (2006) 0.95
Risk factors for self-injury, aggression, and stereotyped behavior among young children at risk for intellectual and developmental disabilities. Am J Intellect Dev Disabil (2014) 0.94
Pituitary abnormalities in Prader-Willi syndrome and early onset morbid obesity. Am J Med Genet A (2008) 0.93
Early childhood obesity is associated with compromised cerebellar development. Dev Neuropsychol (2009) 0.92
Quantitative real-time polymerase chain reaction for the verification of genomic imbalances detected by microarray-based comparative genomic hybridization. Genet Test Mol Biomarkers (2009) 0.91
X-chromosome inactivation patterns in females with Prader-Willi syndrome. Am J Med Genet A (2007) 0.91
Metabolic syndrome in South Asian immigrants: more than low HDL requiring aggressive management. Lipids Health Dis (2011) 0.90
DFNA2/KCNQ4 and its manifestations. Adv Otorhinolaryngol (2002) 0.90
Trimethylation of histone H3 lysine 4 is an epigenetic mark at regions escaping mammalian X inactivation. Epigenetics (2007) 0.90
Whole genome microarray analysis of gene expression in an imprinting center deletion mouse model of Prader-Willi syndrome. Am J Med Genet A (2007) 0.89
Genetics and mitochondrial abnormalities in autism spectrum disorders: a review. Curr Genomics (2011) 0.89
Hyperghrelinemia in Prader-Willi syndrome begins in early infancy long before the onset of hyperphagia. Am J Med Genet A (2014) 0.88
Sylvian fissure morphology in Prader-Willi syndrome and early-onset morbid obesity. Genet Med (2007) 0.86
FEPI-MB: identifying SNPs-disease association using a Markov Blanket-based approach. BMC Bioinformatics (2011) 0.85
IL1RAPL1 gene deletion as a cause of X-linked intellectual disability and dysmorphic features. Eur J Med Genet (2011) 0.85
Effects of topiramate in adults with Prader-Willi syndrome. Am J Ment Retard (2004) 0.85
Deaths due to choking in Prader-Willi syndrome. Am J Med Genet A (2007) 0.84
Growth standards of infants with Prader-Willi syndrome. Pediatrics (2011) 0.84
The neuroanatomy of genetic subtype differences in Prader-Willi syndrome. Am J Med Genet B Neuropsychiatr Genet (2012) 0.84
Neurocognitive findings in Prader-Willi syndrome and early-onset morbid obesity. J Pediatr (2006) 0.84
A clinical case report and literature review of the 3q29 microdeletion syndrome. Clin Dysmorphol (2015) 0.83
An 18-year follow-up report on an infant with a duplication of 9q34. Am J Med Genet A (2010) 0.83
Expression and regulation of nampt in human islets. PLoS One (2013) 0.83
Ghrelin, peptide YY and their receptors: gene expression in brain from subjects with and without Prader-Willi syndrome. Int J Mol Med (2005) 0.82
Carnitine and coenzyme Q10 levels in individuals with Prader-Willi syndrome. Am J Med Genet A (2011) 0.81
Drowning as a cause of death in Angelman syndrome. Am J Ment Retard (2002) 0.81
Double-blind, randomized placebo-controlled clinical trial of benfotiamine for severe alcohol dependence. Drug Alcohol Depend (2013) 0.81
Repetitive behavior profiles: Consistency across autism spectrum disorder cohorts and divergence from Prader-Willi syndrome. J Neurodev Disord (2011) 0.80
Genome-wide gene expression in a patient with 15q13.3 homozygous microdeletion syndrome. Eur J Hum Genet (2013) 0.80
Molecular characterization of a patient presumed to have prader-willi syndrome. Clin Med Insights Case Rep (2013) 0.80
X chromosome inactivation in women with alcoholism. Alcohol Clin Exp Res (2012) 0.80
Eye abnormalities in Fryns syndrome. Am J Med Genet A (2004) 0.80
TPH2 G/T polymorphism is associated with hyperphagia, IQ, and internalizing problems in Prader-Willi syndrome. J Child Psychol Psychiatry (2011) 0.80
Methylation-specific multiplex ligation-dependent probe amplification and identification of deletion genetic subtypes in Prader-Willi syndrome. Genet Test Mol Biomarkers (2011) 0.80
Hyperphagia: current concepts and future directions proceedings of the 2nd international conference on hyperphagia. Obesity (Silver Spring) (2014) 0.80
Loxapine add-on for adolescents and adults with autism spectrum disorders and irritability. J Child Adolesc Psychopharmacol (2015) 0.79
Deficiency in prohormone convertase PC1 impairs prohormone processing in Prader-Willi syndrome. J Clin Invest (2016) 0.79
Topiramate attenuates self-injurious behaviour in Prader-Willi Syndrome. Int J Neuropsychopharmacol (2002) 0.79
Increased plasma chemokine levels in children with Prader-Willi syndrome. Am J Med Genet A (2015) 0.79