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1982, ISBN 9783777305448, xxvi, 293
Book
1970, Surgical conditions in infancy and childhood, 175
Book
Current Opinion in Pediatrics, ISSN 1040-8703, 06/2013, Volume 25, Issue 3, pp. 368 - 374
Journal Article
Hirschsprung's disease: Revisited, 12/2000
The diagnosis and therapy of Hirschsprung's disease has changed in recent times and a firm diagnosis of the entity can be made pre-operatively by... 
Hirschsprung's disease, Colonic aganglionosis, Intestinal neuronal dysplasia, Pull-through operation
Journal
ANZ Journal of Surgery, ISSN 1445-1433, 10/2017, Volume 87, Issue 10, pp. 754 - 754
Journal Article
Journal of Cellular and Molecular Medicine, ISSN 1582-1838, 06/2015, Volume 19, Issue 6, pp. 1197 - 1207
Hirschsprung's disease ( HSCR ) is a rare congenital disease caused by impaired proliferation and migration of neural crest cells. We investigated changes in... 
intestine | neural development | gene regulation | genetic disorder | Genetic disorder | Intestine | Gene regulation | Neural development | MIGRATION | MEDICINE, RESEARCH & EXPERIMENTAL | MOUSE | RECEPTOR | MICRORNAS | CELL BIOLOGY | HOST GENES | INHIBITION | GROWTH | NEURAL CREST | TYROSINE KINASE RET | EXPRESSION | Proto-Oncogene Proteins c-ret - metabolism | Humans | Hirschsprung Disease - genetics | Infant | Male | Cell Movement - genetics | DNA-Binding Proteins - metabolism | Intercellular Signaling Peptides and Proteins - metabolism | Female | Cell Proliferation - genetics | Gene Expression | Colon - pathology | Mice, Inbred C57BL | Intercellular Signaling Peptides and Proteins - genetics | Mice, Transgenic | Signal Transduction - genetics | DNA-Binding Proteins - genetics | Reverse Transcriptase Polymerase Chain Reaction | Nerve Tissue Proteins - genetics | Blotting, Western | Colon - metabolism | Nerve Tissue Proteins - metabolism | Animals | Cell Line, Tumor | Protein Binding | MicroRNAs - genetics | Receptors, Immunologic - genetics | Hirschsprung Disease - metabolism | Receptors, Immunologic - metabolism | Proto-Oncogene Proteins c-ret - genetics | Proteins | Development and progression | Genetic engineering | Genetic disorders | RNA | Analysis | Medical research | Congenital diseases | Transgenic animals | Pathogenesis | Rodents | MicroRNAs | Index Medicus | Original
Journal Article
American Journal of Medical Genetics Part A, ISSN 1552-4825, 04/2017, Volume 173, Issue 4, pp. 1066 - 1070
Diagnosis of genetic syndromes may be difficult when specific components of a disorder manifest at a later age. We present a follow up of a previous report... 
central demyelinating leukodystrophy | WS4 | peripheral demyelinating neuropathy | Waardenburg syndrome | Waardenburg–Shah syndrome | 22q duplication syndrome | DAX1 | DOMINANT | DELETION | Waardenburg-Shah syndrome | GENETICS & HEREDITY | CHROMOSOME-22 | MICE | MUTATIONS | SRY | Chromosome Duplication | Demyelinating Diseases - genetics | Humans | Hirschsprung Disease - genetics | African Americans | Male | Kidney Failure, Chronic - ethnology | Pelizaeus-Merzbacher Disease - ethnology | Waardenburg Syndrome - ethnology | Demyelinating Diseases - diagnosis | Kidney Failure, Chronic - pathology | Pelizaeus-Merzbacher Disease - pathology | Demyelinating Diseases - pathology | Hirschsprung Disease - ethnology | Chromosomes, Human, Pair 22 - chemistry | Kidney Failure, Chronic - diagnosis | Pelizaeus-Merzbacher Disease - genetics | Hirschsprung Disease - pathology | Waardenburg Syndrome - pathology | Pelizaeus-Merzbacher Disease - diagnosis | Kidney Failure, Chronic - genetics | Hirschsprung Disease - diagnosis | Waardenburg Syndrome - diagnosis | Demyelinating Diseases - ethnology | Waardenburg Syndrome - genetics | 46, XX Testicular Disorders of Sex Development | SOXE Transcription Factors - genetics | Hirschsprung's disease | Analysis | DNA microarrays | Genes | Index Medicus | PCWH | Sex reversal | and Hirschsprung disease | 22q11 duplication syndrome | neurocristopathies | SOX10 | XX male syndrome | disorders of sex development
Journal Article
Journal of Clinical Investigation, ISSN 0021-9738, 09/2011, Volume 121, Issue 9, pp. 3467 - 3478
Hirschsprung (HSCR) disease is a complex genetic disorder attributed to a failure of the enteric neural crest cells (ENCCs) to form ganglia in the hindgut.... 
MEDICINE, RESEARCH & EXPERIMENTAL | NERVOUS-SYSTEM | PROGENITORS | STEM-CELLS | INHIBITION | NOTCH ACTIVATION | NEUROGENESIS | PROLIFERATION | DIFFERENTIATION | NEURAL CREST CELLS | GENOME-WIDE ASSOCIATION | Enteric Nervous System - cytology | Receptors, Notch - metabolism | Humans | Hirschsprung Disease - genetics | Hedgehog Proteins - metabolism | Receptors, Notch - genetics | Intracellular Signaling Peptides and Proteins - metabolism | Neuroglia - cytology | Hedgehog Proteins - genetics | Gastrointestinal Tract - physiology | Gene Expression Regulation, Developmental | Membrane Proteins - metabolism | Patched Receptors | Cell Differentiation - physiology | Intracellular Signaling Peptides and Proteins - genetics | Genetic Predisposition to Disease | Genome-Wide Association Study | Neural Crest - cytology | Membrane Proteins - genetics | Hirschsprung Disease - physiopathology | Cells, Cultured | Neuroglia - physiology | Receptors, Cell Surface - metabolism | Neural Crest - physiology | Animals | Epistasis, Genetic | Neurogenesis - physiology | Signal Transduction - physiology | Gastrointestinal Tract - cytology | Mice | Polymorphism, Single Nucleotide | Enteric Nervous System - physiology | Patched-1 Receptor | Receptors, Cell Surface - genetics | Hirschsprung's disease | Cell proliferation | Care and treatment | Intestine, Small | Growth | Physiological aspects | Genetic aspects | Cellular signal transduction | Diagnosis | Gene expression | Nervous system, Autonomic
Journal Article
Journal Article
American Journal of Physiology - Gastrointestinal and Liver Physiology, ISSN 0193-1857, 07/2013, Volume 305, Issue 1, pp. 1 - 24
The enteric nervous system (ENS) provides the intrinsic innervation of the bowel and is the most neurochemically diverse branch of the peripheral nervous... 
Gene-environment interactions | Pseudoobstruction | Enteric nervous system | Genetic interactions | Axonal targeting | Hirschsprung disease | Development | Neurochemical coding | Neural crest-derived stem cells | Chain migration | Neural crest | Cell migration | axonal targeting | development | neurochemical coding | ENDOTHELIN-B RECEPTOR | STEM-CELLS | PHYSIOLOGY | neural crest-derived stem cells | INTESTINAL AGANGLIONOSIS | neural crest | SMAD-INTERACTING PROTEIN-1 | HIRSCHSPRUNGS-DISEASE | MICE LACKING | NEURAL CREST CELLS | chain migration | gene-environment interactions | MOUSE MODEL | cell migration | enteric nervous system | pseudoobstruction | GASTROENTEROLOGY & HEPATOLOGY | genetic interactions | RECEPTOR TYROSINE KINASE | GENOME-WIDE ASSOCIATION | Neural Crest - cytology | Enteric Nervous System - growth & development | Humans | Hirschsprung Disease - genetics | Enteric Nervous System - embryology | Hirschsprung Disease - prevention & control | Body Patterning - physiology | Gastrointestinal Tract - growth & development | Gastrointestinal Tract - embryology | Animals | Gene Expression Regulation, Developmental | Enteric Nervous System - physiology | Gastrointestinal Tract - innervation | Intestine, Small | Physiological aspects | Research | Cell differentiation | Health aspects | Nervous system, Autonomic | Review
Journal Article