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Journal Article
Proceedings of the National Academy of Sciences of the United States of America, ISSN 0027-8424, 8/2013, Volume 110, Issue 34, pp. 13938 - 13943
Journal Article
Nature, ISSN 0028-0836, 04/2009, Volume 458, Issue 7240, pp. 894 - 898
Journal Article
PLoS ONE, ISSN 1932-6203, 04/2017, Volume 12, Issue 4, p. e0175962
By searching a clinical database of over 60,000 individuals referred for array-based CNV analyses and online resources, we identified four males from three... 
GROWTH-RETARDATION | AUTISM | PROTEIN | MENTAL-RETARDATION | GENE | MULTIDISCIPLINARY SCIENCES | MICRODUPLICATIONS | BRAIN-DEVELOPMENT | PHENOTYPE | MUTATIONS | TRANSLATION | Antigens, Neoplasm - genetics | Chromosomes, Human, X - genetics | X Chromosome Inactivation - genetics | Peptide Termination Factors - genetics | Genes, X-Linked - genetics | Humans | Child, Preschool | Male | Developmental Disabilities - genetics | Chromosome Duplication - genetics | Comparative Genomic Hybridization - methods | Chromosomal Proteins, Non-Histone - genetics | Intellectual Disability - genetics | Phenotype | Pedigree | Female | Neoplasm Proteins - genetics | Child | Sequence Deletion - genetics | Genetic aspects | Online databases | Research | Mental retardation | Analysis | Cerebellum | Brain | Regulations | Transcription factors | Copy number | Males | Assaying | Microcephaly | Inactivation | Nuclei | Data bases | Social behavior | Coding | Reproduction (copying) | Consent | X Chromosomes | Genetics | Probes | Deoxyribonucleic acid--DNA | Hypoplasia | Obesity | Polypeptides | Neurodegenerative diseases | Sexual behavior | Cyclic AMP response element-binding protein | Gene expression | Heterozygosity | Embryonic growth stage | Amplification | Neurology | Hospitals | Mice | Mutation | Kidney transplantation | Anomalies | Identification methods | Physicians | Intellectual disabilities | Genes | Phase transitions | Visual perception | Embryogenesis | Databases | Social interactions | Clonal deletion | Hyperphagia | Siblings | Kidneys | Cloning | Biophysics | Medicine | Autism | Photographs | Methylation | Polymorphism | Deoxyribonucleic acid | DNA
Journal Article
Journal of Clinical Investigation, ISSN 0021-9738, 01/2017, Volume 127, Issue 1, pp. 293 - 305
Prader-Willi syndrome (PWS) is caused by a loss of paternally expressed genes in an imprinted region of chromosome 15q. Among the canonical PWS phenotypes are... 
MEDICINE, RESEARCH & EXPERIMENTAL | PLASMA GHRELIN | BODY-WEIGHT | HORMONE-RELEASING-HORMONE | HYPERPHAGIA | FOOD-INTAKE | PROPROTEIN CONVERTASE-1 | ONSET OBESITY | KNOCKOUT MICE | CIRCULATING GHRELIN LEVELS | CHILDREN | Diabetes Mellitus - pathology | Neurons - pathology | Proinsulin - metabolism | Diabetes Mellitus - genetics | Humans | Male | Obesity - genetics | RNA, Small Nucleolar - metabolism | Basic Helix-Loop-Helix Transcription Factors - metabolism | Hypogonadism - metabolism | Prader-Willi Syndrome - genetics | Female | Neurons - metabolism | Induced Pluripotent Stem Cells - metabolism | Hypogonadism - pathology | Induced Pluripotent Stem Cells - pathology | Basic Helix-Loop-Helix Transcription Factors - genetics | Protein Precursors - genetics | Diabetes Mellitus - metabolism | Proinsulin - genetics | Prader-Willi Syndrome - metabolism | Growth Hormone-Releasing Hormone - genetics | Hyperphagia - metabolism | Proprotein Convertase 1 - deficiency | RNA, Small Nucleolar - genetics | Mice, Knockout | Obesity - metabolism | Obesity - pathology | Protein Precursors - metabolism | Hyperphagia - genetics | Hyperphagia - pathology | Hypogonadism - genetics | Growth Hormone-Releasing Hormone - metabolism | Animals | Prader-Willi Syndrome - pathology | Prader-Willi syndrome | Gene expression | Neurons | Analysis | Risk factors | Proteins | Enzymes | Plasma | Obesity | Rodents | Fibroblasts | Patients | Binding sites
Journal Article
PLoS ONE, ISSN 1932-6203, 05/2014, Volume 9, Issue 5, p. e97195
Lipid metabolism in the ventromedial hypothalamus (VMH) has emerged as a crucial pathway in the regulation of feeding and energy homeostasis. Carnitine... 
ENERGY-BALANCE | BODY-WEIGHT | MALONYL-COA | FOOD-INTAKE | MULTIDISCIPLINARY SCIENCES | FEEDING-BEHAVIOR | FATTY-ACID-METABOLISM | GENE-EXPRESSION | ARCUATE NUCLEI | ACETYL-COA CARBOXYLASE | GLUCOSE-PRODUCTION | Dependovirus - genetics | Carnitine O-Palmitoyltransferase - genetics | Hyperphagia - enzymology | Ventromedial Hypothalamic Nucleus - physiopathology | Male | RNA, Messenger - metabolism | Obesity - genetics | Hyperglycemia - genetics | Isoenzymes - metabolism | Carnitine O-Palmitoyltransferase - metabolism | Lipid Metabolism - genetics | Gene Expression | Isoenzymes - genetics | RNA, Messenger - genetics | Rats | Ventromedial Hypothalamic Nucleus - metabolism | Hyperphagia - metabolism | Appetite Regulation - genetics | Eating - genetics | Rats, Sprague-Dawley | Genetic Vectors - genetics | Hyperphagia - genetics | Animals | Insulin Resistance - genetics | Hyperglycemia - enzymology | Obesity - enzymology | Enzymes | Brain | Physiological aspects | Ceramides | GABA | Insulin resistance | Lipids | Glutamate | Hyperphagia | Carnitine | Body weight | Homeostasis | Intracellular signalling | Sphingolipids | Biochemistry | Phospholipids | Hormones | Food science | Hypothalamus | Glucose | Kinases | Proteins | Signal transduction | Mitochondria | γ-Aminobutyric acid | Hyperglycemia | Hypothalamus (ventromedial) | Energy | Metabolites | Ghrelin | Rodents | Physiology | Oxidation | Lipid metabolism | Appetite | Nutrition | Hypoglycemia | Metabolism | Palmitoyltransferase | Insulin | Fatty acids | Carnitine palmitoyltransferase | Feeding | Energy balance | Glutamic acid transporter | Diabetes | Molecular biology | Transporter | Hipotàlem | Adipose tissues | Metabolisme dels glúcids | Rats as laboratory animals | Metabolisme dels lípids | Carbohydrate metabolism | Peptide hormones | Glucosa | Esfingolípids | Carnitine palmitoyltransferase I | Hormones peptídiques | Teixit adipós | Carnitina palmitoïl-transferasa 1 | Rates (Animals de laboratori)
Journal Article
PLoS Genetics, ISSN 1553-7390, 01/2013, Volume 9, Issue 1, p. e1003207
Journal Article
The New England Journal of Medicine, ISSN 0028-4793, 01/2007, Volume 356, Issue 3, pp. 237 - 247
Journal Article