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hirschsprung disease - genetics (7) 7
humans (7) 7
index medicus (7) 7
proto-oncogene proteins c-ret - genetics (5) 5
abridged index medicus (4) 4
animals (4) 4
chemistry (4) 4
female (4) 4
gastroenterology & hepatology (4) 4
gastroenterology and hepatology (4) 4
hirschsprung's disease (4) 4
metallurgy (4) 4
organic chemistry (4) 4
peptides (4) 4
proto-oncogene proteins c-ret - metabolism (4) 4
analysis (3) 3
enteric nervous system (3) 3
enteric nervous system - metabolism (3) 3
gene expression regulation, developmental (3) 3
genes (3) 3
genetic aspects (3) 3
genetics (3) 3
hirschsprung disease - metabolism (3) 3
homeodomain proteins - genetics (3) 3
male (3) 3
nuclear proteins - genetics (3) 3
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phenotype (3) 3
surgery (3) 3
transcription factors - genetics (3) 3
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activation (2) 2
biochemistry (2) 2
case-control studies (2) 2
common (2) 2
differentiation (2) 2
disease models, animal (2) 2
dna mutational analysis - methods (2) 2
enteric nervous system - abnormalities (2) 2
enteric nervous-system (2) 2
genetic predisposition to disease (2) 2
genetic research (2) 2
genomics (2) 2
hirschsprungs-disease (2) 2
homeodomain proteins - metabolism (2) 2
mice (2) 2
mice, transgenic (2) 2
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neural crest - metabolism (2) 2
promoter regions, genetic (2) 2
receptor protein-tyrosine kinases - genetics (2) 2
ret (2) 2
signal transduction (2) 2
signal transduction - genetics (2) 2
soxe transcription factors - genetics (2) 2
soxe transcription factors - metabolism (2) 2
stem cells (2) 2
stem-cell (2) 2
thyroid nuclear factor 1 (2) 2
transcription (2) 2
tyrosine (2) 2
tyrosine kinase (2) 2
2.1 protein (1) 1
abdominal surgery (1) 1
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adrenal gland neoplasms - genetics (1) 1
adrenal gland neoplasms - surgery (1) 1
adrenal-sparing surgery (1) 1
adrenalectomy (1) 1
adult (1) 1
aganglionic megacolon (1) 1
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aged, 80 and over (1) 1
alzheimers-disease (1) 1
amino acid substitution - genetics (1) 1
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amyloid precursor protein secretases - metabolism (1) 1
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Gastroenterology, ISSN 0016-5085, 2015, Volume 149, Issue 7, pp. 1837 - 1848.e5
Background & Aims Hirschsprung disease is characterized by a deficit in enteric neurons, which are derived from neural crest cells (NCCs). Aberrant hedgehog... 
Gastroenterology and Hepatology | Nervous System Development | HSCR | Aganglionic Megacolon | Mouse Model | SOX10 EXPRESSION | CELLS | SONIC HEDGEHOG | PROLIFERATION | PALLISTER-HALL SYNDROME | NEURAL CREST DEVELOPMENT | MAINTENANCE | GENE | DIFFERENTIATION | GASTROENTEROLOGY & HEPATOLOGY | Wnt1 Protein - genetics | Humans | Neural Crest - pathology | Zinc Finger Protein Gli2 | Hirschsprung Disease - genetics | Zinc Finger Protein Gli3 | Male | Wnt1 Protein - metabolism | Mice, 129 Strain | DNA Mutational Analysis - methods | Enteric Nervous System - abnormalities | Neurogenesis | Case-Control Studies | Neural Crest - metabolism | Transfection | Gene Expression Regulation, Developmental | Kruppel-Like Transcription Factors - metabolism | Female | Nuclear Proteins - genetics | Repressor Proteins - metabolism | Disease Models, Animal | Genetic Predisposition to Disease | SOXE Transcription Factors - metabolism | Enteric Nervous System - metabolism | Mice, Inbred C57BL | Hirschsprung Disease - pathology | Repressor Proteins - genetics | Mice, Transgenic | Nuclear Proteins - metabolism | Transcription Factors - genetics | Nerve Tissue Proteins - genetics | Mice, Inbred ICR | Nerve Tissue Proteins - metabolism | Transcription Factors - metabolism | Cell Lineage | Hirschsprung Disease - diagnosis | Phenotype | Animals | High-Throughput Nucleotide Sequencing | Zinc Finger Protein GLI1 | HeLa Cells | Mutation | Hirschsprung Disease - metabolism | Kruppel-Like Transcription Factors - genetics | Cell Movement | SOXE Transcription Factors - genetics | Hirschsprung's disease | Genetic research | Genetic aspects | Analysis | Children's hospitals | Stem cells
Journal Article
PLoS ONE, ISSN 1932-6203, 2011, Volume 6, Issue 6, p. e20815
The enteric nervous system (ENS) regulates peristaltic movement of the gut, and abnormal ENS causes Hirschsprung's disease (HSCR) in newborns. HSCR is a... 
RNA-POLYMERASE-II | C-RET | 2.1 PROTEIN | ENTERIC NERVOUS-SYSTEM | CORE PROMOTER | MULTIDISCIPLINARY SCIENCES | GENE-EXPRESSION | STEM-CELL | PROTOONCOGENE PROMOTER | HIRSCHSPRUNGS-DISEASE | MUTATIONS | Promoter Regions, Genetic | RNA, Small Interfering - genetics | Thyroid Nuclear Factor 1 | Proto-Oncogene Proteins c-ret - metabolism | Homeodomain Proteins - metabolism | Humans | Hirschsprung Disease - genetics | Molecular Sequence Data | Nuclear Proteins - metabolism | Transcription Factors - genetics | Homeodomain Proteins - genetics | Transcription Factors - metabolism | Phenotype | Animals | Gene Expression Regulation, Developmental | Base Sequence | Cell Line, Tumor | Transcription, Genetic | Enteric Nervous System - physiology | Nuclear Proteins - genetics | Binding Sites | Hirschsprung Disease - metabolism | Proto-Oncogene Proteins c-ret - genetics | RNA, Small Interfering - metabolism | Tyrosine | Genetic disorders | Genetic transcription | DNA binding proteins | Genes | Haplotypes | Neonates | Transcription factors | Nervous system | Activation | Thyroid gland | Single-nucleotide polymorphism | Kinases | Proteins | Enteric nervous system | Ret protein | Intestine | Transgenic animals | Surgery | Protein-tyrosine kinase receptors | Pax3 protein | Phox2b protein | Protein-tyrosine kinase | Phenotypes | Human motion | Gene expression | Sox10 protein | Ganglia | Hirschsprung's disease | Medicine | Thyroid transcription factor 1 | Binding sites
Journal Article
Journal of Pediatric Surgery, ISSN 0022-3468, 2009, Volume 44, Issue 10, pp. 1904 - 1912
Journal Article
Mechanisms of Development, ISSN 0925-4773, 08/2009, Volume 126, pp. S134 - S134
Journal Article
Journal Article
12/2003, 7
The invention relates generally to polymorphisms or mutations of the PHOX2B gene. More particularly, the invention relates to polymorphisms or mutations of the... 
METALLURGY | PEPTIDES | ORGANIC CHEMISTRY | CHEMISTRY
Patent
10/2003, 7
The invention relates generally to polymorphisms or mutations of the PHOX2B gene. More particularly, the invention relates to polymorphisms or mutations of the... 
METALLURGY | PEPTIDES | ORGANIC CHEMISTRY | CHEMISTRY
Patent
Gastroenterology, ISSN 0016-5085, 12/2018, Volume 155, Issue 6, pp. 1908 - 1922.e5
Journal Article
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