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Hirschsprung disease, associated syndromes and genetics: a review.

Hirschsprung disease, associated syndromes and genetics: a review.

http://www.wikidata.org/entity/Q34584242

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Genome-wide copy number analysis uncovers a new HSCR gene: NRG3 Congenital sensorineural deafness in dalmatian dogs associated with quantitative trait loci Aebp2 as an epigenetic regulator for neural crest cells.Down syndrome: searching for the genetic culprits White paper on guidelines concerning enteric nervous system stem cell therapy for enteric neuropathies Comparison of Laparoscopic-Assisted Operations and Laparotomy Operations for the Treatment of Hirschsprung Disease: Evidence From a Meta-Analysis Enteric nervous system development: migration, differentiation, and disease Male-biased aganglionic megacolon in the TashT mouse line due to perturbation of silencer elements in a large gene desert of chromosome 10 Neuropilin 1 is essential for gastrointestinal smooth muscle contractility and motility in aged mice In Vivo Transplantation of Enteric Neural Crest Cells into Mouse Gut; Engraftment, Functional Integration and Long-Term Safety A collagen VI-dependent pathogenic mechanism for Hirschsprung's disease.Development of the zebrafish enteric nervous system.Intestinal neuronal dysplasia type B: A still little known diagnosis for organic causes of intestinal chronic constipation Recent advances in regenerative medicine to treat enteric neuropathies: use of human cells Building a second brain in the bowel Novel mutations at RET ligand genes preventing receptor activation are associated to Hirschsprung's disease Phactr4 regulates directional migration of enteric neural crest through PP1, integrin signaling, and cofilin activity Language Impairments in ASD Resulting from a Failed Domestication of the Human Brain Neural crest requires Impdh2 for development of the enteric nervous system, great vessels, and craniofacial skeleton Genome-wide association study identifies NRG1 as a susceptibility locus for Hirschsprung's disease Perturbation of Hoxb5 signaling in vagal and trunk neural crest cells causes apoptosis and neurocristopathies in mice.Genetic background strongly modifies the severity of symptoms of Hirschsprung disease, but not hearing loss in rats carrying Ednrb(sl) mutations.Maturation of ureter-bladder connection in mice is controlled by LAR family receptor protein tyrosine phosphatases Vitamin A facilitates enteric nervous system precursor migration by reducing Pten accumulation.Novel mechanisms of early upper and lower urinary tract patterning regulated by RetY1015 docking tyrosine in mice Autonomic neurocristopathy-associated mutations in PHOX2B dysregulate Sox10 expression Planar cell polarity genes control the connectivity of enteric neurons.Ibuprofen slows migration and inhibits bowel colonization by enteric nervous system precursors in zebrafish, chick and mouse.Neural Crest Cells Contribute an Astrocyte-like Glial Population to the Spleen.A novel study of copy number variations in Hirschsprung disease using the multiple ligation-dependent probe amplification (MLPA) technique Copy number variants in candidate genes are genetic modifiers of Hirschsprung disease Comprehensive analysis of RET common and rare variants in a series of Spanish Hirschsprung patients confirms a synergistic effect of both kinds of events.Defining the transcriptomic landscape of the developing enteric nervous system and its cellular environment Novel MLPA procedure using self-designed probes allows comprehensive analysis for CNVs of the genes involved in Hirschsprung disease.Multiple endocrine neoplasia type 2 and familial medullary thyroid carcinoma: an update Haplotype analysis reveals a possible founder effect of RET mutation R114H for Hirschsprung's disease in the Chinese population.Organotypic specificity of key RET adaptor-docking sites in the pathogenesis of neurocristopathies and renal malformations in mice.Trafficking of G-protein-coupled receptors to the plasma membrane: insights for pharmacoperone drugs.Novel association of severe neonatal encephalopathy and Hirschsprung disease in a male with a duplication at the Xq28 region.Genetic model system studies of the development of the enteric nervous system, gut motility and Hirschsprung's disease

P2860

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P2860

Hirschsprung disease, associated syndromes and genetics: a review.

http://www.wikidata.org/entity/Q34584242

description

2007 nî lūn-bûn

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2007 թուականի Հոկտեմբերին հրատարակուած գիտական յօդուած

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2007 թվականի հոտեմբերին հրատարակված գիտական հոդված

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2007年の論文

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2007年学术文章

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2007年学术文章

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2007年学术文章

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2007年学术文章

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2007年学术文章

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2007年學術文章

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name

Hirschsprung disease, associated syndromes and genetics: a review.

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Hirschsprung disease, associated syndromes and genetics: a review.

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Hirschsprung disease, associated syndromes and genetics: a review.

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Hirschsprung disease, associated syndromes and genetics: a review.

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Hirschsprung disease, associated syndromes and genetics: a review.

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Hirschsprung disease, associated syndromes and genetics: a review.

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Hirschsprung disease, associated syndromes and genetics: a review.

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Hirschsprung disease, associated syndromes and genetics: a review.

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Hirschsprung disease, associated syndromes and genetics: a review.

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Journal of Medical Genetics

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Hirschsprung disease, associated syndromes and genetics: a review.

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A Chakravarti

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A Pelet

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A S Brooks

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Hirschsprung Disease Consortium

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