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Endocrine manifestations and management of Prader-Willi syndromeDBS for ObesityGrowth hormone therapy for Prader-willi syndrome: challenges and solutionsA structured approach to the assessment of a floppy neonateYou Lose Some, You Win Some: Weight Loss Induces Microbiota and Metabolite ShiftsPrader-Willi, Angelman, and 15q11-q13 Duplication SyndromesThe emerging landscape of small nucleolar RNAs in cell biologyChannelopathy pathogenesis in autism spectrum disordersMendelian disorders of the epigenetic machinery: tipping the balance of chromatin statesDECIPHER: web-based, community resource for clinical interpretation of rare variants in developmental disordersGenetics of Prader-Willi syndrome and Prader-Will-Like syndromePrader-Willi syndrome mental health research strategy workshop proceedings: the state of the science and future directionsThe neurobiology of the Prader-Willi phenotype of fragile X syndromeEpigenetic mechanisms in diurnal cycles of metabolism and neurodevelopmentToxic environmental chemicals: the role of reproductive health professionals in preventing harmful exposuresUSP7 Acts as a Molecular Rheostat to Promote WASH-Dependent Endosomal Protein Recycling and Is Mutated in a Human Neurodevelopmental DisorderRole of Genetics in the Etiology of Autistic Spectrum Disorder: Towards a Hierarchical Diagnostic Strategy.Epigenetic regulation of UBE3A and roles in human neurodevelopmental disorders.Differential response to abiraterone acetate and di-n-butyl phthalate in an androgen-sensitive human fetal testis xenograft bioassay.Angelman syndrome imprinting center encodes a transcriptional promoter.Whole genome sequencing of one complex pedigree illustrates challenges with genomic medicineRGS2 expression predicts amyloid-β sensitivity, MCI and Alzheimer's disease: genome-wide transcriptomic profiling and bioinformatics data mining.Stochastic loss of silencing of the imprinted Ndn/NDN allele, in a mouse model and humans with prader-willi syndrome, has functional consequences.Neuroimaging Findings in Pediatric Genetic Skeletal Disorders: A Review.Adult-onset deletion of the Prader-Willi syndrome susceptibility gene Snord116 in mice results in reduced feeding and increased fat mass.Central precocious puberty that appears to be sporadic caused by paternally inherited mutations in the imprinted gene makorin ring finger 3.Causes of death in Prader-Willi syndrome: Prader-Willi Syndrome Association (USA) 40-year mortality surveyGait initiation and termination strategies in patients with Prader-Willi syndrome.Growth hormone treatment in non-growth hormone-deficient childrenChromosome 15q11-q13 copy number gain detected by array-CGH in two cases with a maternal methylation pattern.Clinically important age-related differences in sleep related disordered breathing in infants and children with Prader-Willi Syndrome.Early diagnosis and care is achieved but should be improved in infants with Prader-Willi syndromeA reduced-energy intake, well-balanced diet improves weight control in children with Prader-Willi syndrome.Gene × Environment interactions in autism spectrum disorders: role of epigenetic mechanisms.Androgen receptor (AR) gene CAG trinucleotide repeat length associated with body composition measures in non-syndromic obese, non-obese and Prader-Willi syndrome individualsPrader-Willi syndrome and growth hormone deficiencyHyperphagia: current concepts and future directions proceedings of the 2nd international conference on hyperphagiaCentral precocious puberty caused by mutations in the imprinted gene MKRN3.Allele-biased expression in differentiating human neurons: implications for neuropsychiatric disordersSpecies-specific alternative splicing leads to unique expression of sno-lncRNAs.
P2860
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P2860
description
2011 nî lūn-bûn
@nan
2011年の論文
@ja
2011年学术文章
@wuu
2011年学术文章
@zh
2011年学术文章
@zh-cn
2011年学术文章
@zh-hans
2011年学术文章
@zh-my
2011年学术文章
@zh-sg
2011年學術文章
@yue
2011年學術文章
@zh-hant
name
Prader-Willi syndrome.
@en
type
label
Prader-Willi syndrome.
@en
prefLabel
Prader-Willi syndrome.
@en
P2093
P1433
P1476
Prader-Willi syndrome.
@en
P2093
Daniel J Driscoll
Jennifer L Miller
Stuart Schwartz
Suzanne B Cassidy
P2888
P356
10.1038/GIM.0B013E31822BEAD0
P407
P577
2011-09-26T00:00:00Z