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Orphanet Journal of Rare Diseases, ISSN 1750-1172, 08/2015, Volume 10, Issue 1, p. 103
Background: Rapid-onset Obesity with Hypothalamic Dysfunction, Hypoventilation, and Autonomic Dysregulation (ROHHAD) is thought to be a genetic disease caused... 
Obesity | Hypoventilation | Next-generation sequencing | Genomics | Exome sequencing | ROHHAD | Genetics | Autonomic dysregulation | Hypothalamic dysfunction | MEDICINE, RESEARCH & EXPERIMENTAL | RARE | GENETIC-VARIANTS | WEAVER SYNDROME | CHILDHOOD | PARANEOPLASTIC-SYNDROME | DISEASE | GENETICS & HEREDITY | INTEGRATIVE GENOMICS VIEWER | MUTATIONS | SPECTRUM | MANIFESTATIONS | Hypoventilation - diagnosis | Hypoventilation - genetics | Diseases in Twins - genetics | Twins, Monozygotic - genetics | Humans | Child, Preschool | Hypothalamic Diseases - diagnosis | Infant | Male | Autonomic Nervous System Diseases - diagnosis | Obesity - genetics | DNA Mutational Analysis | Female | Obesity - diagnosis | High-Throughput Nucleotide Sequencing - methods | Neoplasm Proteins - genetics | Child | Intracellular Signaling Peptides and Proteins - genetics | Ganglioneuroblastoma - genetics | Protein-Serine-Threonine Kinases - genetics | Ganglioneuroma - genetics | Sequence Analysis, DNA | Autonomic Nervous System Diseases - genetics | Hypothalamic Diseases - genetics | Exome - genetics | Mutation | Gene mutations | Genetic aspects | Diagnosis | Research | Twins | Brain | Medical research | Analysis | Medicine, Experimental | Development and progression | Nucleotide sequencing | Risk factors | Tumors | DNA sequencing | Pediatrics | Data analysis | Disease | Genes | Mortality | Colleges & universities | Patients | Children & youth | Consortia | Genotype & phenotype | Hospitals | Consent | Deoxyribonucleic acid--DNA
Journal Article
The American Journal of Human Genetics, ISSN 0002-9297, 2007, Volume 80, Issue 5, pp. 988 - 993
Journal Article
PLoS Genetics, ISSN 1553-7390, 06/2013, Volume 9, Issue 6, p. e1003533
Journal Article
Journal Article
PLoS ONE, ISSN 1932-6203, 01/2017, Volume 12, Issue 1, p. e0168930
Journal Article
Journal of Clinical Investigation, ISSN 0021-9738, 09/2012, Volume 122, Issue 9, pp. 3145 - 3158
The most common forms of neurocristopathy in the autonomic nervous system are Hirschsprung disease (HSCR), resulting in congenital loss of enteric ganglia, and... 
CENTRAL HYPOVENTILATION SYNDROME | TRANSCRIPTION FACTORS | MEDICINE, RESEARCH & EXPERIMENTAL | CREST STEM-CELLS | ENTERIC NERVOUS-SYSTEM | HOMEOBOX GENE PHOX2B | SYMPATHETIC NEURONS | SELF-RENEWAL | HIRSCHSPRUNGS-DISEASE | SCHWANN-CELLS | NEURAL CREST | Sequence Deletion | Hypoventilation - genetics | Cell Proliferation | Cell Count | Homeodomain Proteins - metabolism | Neural Crest - pathology | Transcriptional Activation | Hirschsprung Disease - genetics | Peptides - genetics | Mice, 129 Strain | Spheroids, Cellular - physiology | Gastrointestinal Tract - pathology | Neural Crest - metabolism | Gastrointestinal Tract - embryology | Ganglia, Sympathetic - embryology | Neurons - physiology | Cell Differentiation | Neurons - metabolism | Gastrointestinal Tract - innervation | Enteric Nervous System - pathology | Transcription Factors - physiology | SOXE Transcription Factors - metabolism | Enteric Nervous System - metabolism | Mice, Inbred C57BL | Neuroblastoma - genetics | Cells, Cultured | Gene Expression Regulation | Neuroglia - physiology | Enteric Nervous System - embryology | Neural Stem Cells - physiology | Repetitive Sequences, Amino Acid - genetics | Ganglia, Sympathetic - metabolism | Transcription Factors - genetics | Homeodomain Proteins - genetics | Gene Knock-In Techniques | Transcription Factors - metabolism | Phenotype | Animals | Enhancer Elements, Genetic | Ganglia, Sympathetic - pathology | Mice | Sleep Apnea, Central - genetics | Homeodomain Proteins - physiology | Hypoventilation - congenital | SOXE Transcription Factors - genetics | Gene mutations | Neurons | Growth | Ganglia, Autonomic | Genetic aspects | Research | Gene expression | Identification and classification
Journal Article
Nature Neuroscience, ISSN 1097-6256, 08/2009, Volume 12, Issue 8, pp. 1028 - 1035
The hindbrain transcription factors Phox2b and Egr2 (also known as Krox20) are linked to the development of the autonomic nervous system and rhombomere-related... 
NERVOUS-SYSTEM | IN-VITRO | NEONATAL-RAT | PRE-BOTZINGER COMPLEX | DEVELOPING HINDBRAIN | NEURONS | FATAL CENTRAL APNEA | CONGENITAL CENTRAL HYPOVENTILATION | RESPIRATORY RHYTHM GENERATION | NEUROSCIENCES | MOUSE EMBRYO | Nerve Net - embryology | Reticular Formation - embryology | Early Growth Response Protein 2 - genetics | Homeodomain Proteins - metabolism | Brain Stem - metabolism | Gene Expression Regulation, Developmental - genetics | Neurons - cytology | Respiratory Physiological Phenomena - genetics | Stem Cells - cytology | Stem Cells - metabolism | Brain Stem - cytology | Nerve Net - cytology | Neurogenesis - genetics | Cell Differentiation - genetics | Reticular Formation - metabolism | Inhalation - genetics | Mice, Inbred DBA | Neurons - metabolism | Mice, Inbred C57BL | Periodicity | Mice, Transgenic | Respiratory Center - cytology | Respiratory Center - metabolism | Transcription Factors - genetics | Respiratory Center - embryology | Homeodomain Proteins - genetics | Transcription Factors - metabolism | Animals | Reticular Formation - cytology | Biological Clocks - genetics | Nerve Net - metabolism | Brain Stem - embryology | Early Growth Response Protein 2 - metabolism | Mice | Circadian rhythms | Neurons | Physiological aspects | Genetic aspects | Research | DNA binding proteins | Respiratory physiology | Life Sciences | Neurons and Cognition
Journal Article
Journal Article
Journal Article
Clinical Cancer Research, ISSN 1078-0432, 07/2017, Volume 23, Issue 13, pp. e98 - e106
Journal Article