about
White paper on guidelines concerning enteric nervous system stem cell therapy for enteric neuropathiesContribution of rare and common variants determine complex diseases-Hirschsprung disease as a modelA germline mutation (A339V) in thyroid transcription factor-1 (TITF-1/NKX2.1) in patients with multinodular goiter and papillary thyroid carcinomaIs there a role for the IHH gene in Hirschsprung's disease?Analysis of SOX10 mutations identified in Waardenburg-Hirschsprung patients: Differential effects on target gene regulationHeterozygous endothelin receptor B (EDNRB) mutations in isolated Hirschsprung diseaseSonic hedgehog regulates the proliferation, differentiation, and migration of enteric neural crest cells in gutGenome-wide association study identifies NRG1 as a susceptibility locus for Hirschsprung's diseasePerturbation of Hoxb5 signaling in vagal and trunk neural crest cells causes apoptosis and neurocristopathies in mice.Distribution of carbon monoxide-producing neurons in human colon and in Hirschsprung's disease patients.Serological protein profiling of neuroblastoma by ProteinChip SELDI-TOF technology.Application of HapMap data to the evaluation of 8 candidate genes for pediatric slow transit constipation.Dysregulation of Wnt inhibitory factor 1 (Wif1) expression resulted in aberrant Wnt-β-catenin signaling and cell death of the cloaca endoderm, and anorectal malformations.Haplotype analysis reveals a possible founder effect of RET mutation R114H for Hirschsprung's disease in the Chinese population.Fine mapping of the NRG1 Hirschsprung's disease locusFine mapping of the 9q31 Hirschsprung's disease locus.HOXB5 cooperates with NKX2-1 in the transcription of human RET.Differential contributions of rare and common, coding and noncoding Ret mutations to multifactorial Hirschsprung disease liabilityRemoving intensity effects and identifying significant genes for Affymetrix arrays in macrophage migration inhibitory factor-suppressed neuroblastoma cells.Adiponectin mediated MHC class II mismatched cardiac graft rejection in mice is IL-4 dependent.Topical delivery of silver nanoparticles promotes wound healing.Genetic Analyses of a Three Generation Family Segregating Hirschsprung Disease and Iris Heterochromia.SRY interference of normal regulation of the RET gene suggests a potential role of the Y-chromosome gene in sexual dimorphism in Hirschsprung disease.Genetic basis of Hirschsprung's disease.Depletion of the IKBKAP ortholog in zebrafish leads to hirschsprung disease-like phenotype.Caseating regional lymphadenitis complicating BCG vaccination: a report of 6 cases.Pneumatosis intestinalis presenting as pneumoperitoneum in a teenage girl with pyloric stenosis.Hedgehog/Notch-induced premature gliogenesis represents a new disease mechanism for Hirschsprung disease in mice and humansAssociation study of PHOX2B as a candidate gene for Hirschsprung's disease.Endoscopic balloon dilatation of esophageal strictures in infants and children: 17 years' experience and a literature review.Portoenterostomy for biliary atresia: Long-term survival and prognosis after esophageal variceal bleeding.Increasing incidence of hypertrophic pyloric stenosis.Chinese family with diffuse oesophageal leiomyomatosis: a new COL4A5/COL4A6 deletion and a case of gonosomal mosaicismMolecular genetics of Hirschsprung's disease.Normalization and analysis of cDNA microarrays using within-array replications applied to neuroblastoma cell response to a cytokine.Male and female differential reproductive rate could explain parental transmission asymmetry of mutation origin in Hirschsprung disease.Genetic study of congenital bile-duct dilatation identifies de novo and inherited variants in functionally related genesSacral agenesis: a pilot whole exome sequencing and copy number study.Whole exome sequencing coupled with unbiased functional analysis reveals new Hirschsprung disease genes.Patient complexity and genotype-phenotype correlations in biliary atresia: a cross-sectional analysis.
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description
Forscher
@de
chercheur
@fr
investigador
@es
researcher
@en
ricercatore
@it
wetenschapper
@nl
研究者
@zh
type
P1053
C-4405-2009
P106
P1153
7202539421
P31
P496
0000-0001-6231-3035