Results 41 to 50 of about 9,333,061 (296)
World Journal of Gastroenterology, 2019 BACKGROUND A large proportion of patients with Hirschsprung disease experience persistent obstructive symptoms after corrective surgery. Persistent obstructive symptoms may result in faecal stasis that can develop into Hirschsprung-associated ...
D. Roorda +4 more
semanticscholar +1 more source
Targeted next-generation sequencing on hirschsprung disease: A pilot study exploits DNA pooling [PDF]
, 2014 To adopt an efficient approach of identifying rare variants possibly related to Hirschsprung disease (HSCR), a pilot study was set up to evaluate the performance of a newly designed protocol for next generation targeted resquencing.
Bao, Jessie Yunjuan +14 more
core +1 more source
Clinical Epigenetics, 2019 Hirschsprung disease is a neurocristopathy, characterized by aganglionosis in the distal bowel. It is caused by failure of the enteric nervous system progenitors to migrate, proliferate, and differentiate in the gut.
Emilie G. Jaroy +6 more
semanticscholar +1 more source
Journal of Medical Case Reports, 2019 Background Hirschsprung disease is a neonatal discovery in almost all cases, and the association of Hirschsprung disease in adults with symptomatic intestinal malrotation is unusual.
Elise Lupon +3 more
doaj +1 more source
Reduced RET expression in gut tissue of individuals carrying risk alleles of Hirschsprung's disease [PDF]
, 2010 Receptor tyrosine kinase (RET) single nucleotide polymorphisms (SNPs) are associated with the Hirschsprung's disease (HSCR). We investigated whether the amount of RET expressed in the ganglionic gut of human was dependent on the genotype of three ...
Chen, Y +9 more
core +1 more source
Epigenetic Mechanisms in Hirschsprung Disease
International Journal of Molecular Sciences, 2019 Hirschsprung disease (HSCR, OMIM 142623) is due to a failure of enteric precursor cells derived from neural crest (EPCs) to proliferate, migrate, survive or differentiate during Enteric Nervous System (ENS) formation.
Ana Torroglosa +5 more
semanticscholar +1 more source
Skip segment Hirschsprung disease and Waardenburg syndrome
Journal of Pediatric Surgery Case Reports, 2015 Skip segment Hirschsprung disease describes a segment of ganglionated bowel between two segments of aganglionated bowel. It is a rare phenomenon that is difficult to diagnose.
Erica R. Gross +4 more
doaj +1 more source
Bi-allelic GAD1 variants cause a neonatal onset syndromic developmental and epileptic encephalopathy. [PDF]
, 2020 Developmental and epileptic encephalopathies are a heterogeneous group of early-onset epilepsy syndromes dramatically impairing neurodevelopment. Modern genomic technologies have revealed a number of monogenic origins and opened the door to therapeutic ...
Alix, E +30 more
core +2 more sources
Intestinal Microbiota in Hirschsprung Disease
Journal of Pediatric Gastroenterology and Nutrition - JPGN, 2018 Objectives: The aim of the study was to characterize the microbiota profiles of patients with Hirschsprung disease (HD) and to evaluate this in relation to postoperative bowel function and the incidence of Hirschsprung-associated enterocolitis (HAEC ...
Malla I. Neuvonen +6 more
semanticscholar +1 more source
Epileptic Disorders, EarlyView.Abstract Objective To summarize the electro‐clinical and genetic characteristics of children with Mowat–Wilson syndrome (MWS). Methods This study is a hospital‐based case series analyzing clinical data from 31 pediatric patients with MWS and epilepsy treated at Peking University First Hospital between June 2020 and December 2024.
Yi Ju, Tao‐yun Ji
wiley +1 more source