# Congenital gastrointestinal and neural anomalies

**Type:** Topics  
**Canonical URL:** https://scholariq.org/topics/congenital-gastrointestinal-and-neural-anomalies/

## Facts

| Field | Value |
| --- | --- |
| Description | This cluster of papers focuses on Hirschsprung disease, a developmental disorder of the enteric nervous system, and its associated syndromes. It covers topics such as genetics, neural crest cells, stem cells, RET gene mutations, GDNF signaling, anorectal malformations, SIP1 mutations, and neuronal differentiation. |
| Domain | Health Sciences |
| Field | Medicine |
| OpenAlex ID | t12237 |
| Works | 125 |

## Topic papers all

Showing 15 of 125.

- [Bowel Disorders](https://scholariq.org/papers/bowel-disorders/)
- [Irritable bowel syndrome](https://scholariq.org/papers/irritable-bowel-syndrome/)
- [Cells of the human intestinal tract mapped across space and time](https://scholariq.org/papers/cells-of-the-human-intestinal-tract-mapped-across-space-and-time/)
- [Comparison of hemorrhoidal treatment modalities](https://scholariq.org/papers/comparison-of-hemorrhoidal-treatment-modalities/)
- [Evaluation of gastrointestinal transit in clinical practice: position paper of the American and European Neurogastroenterology and Motility Societies](https://scholariq.org/papers/evaluation-of-gastrointestinal-transit-in-clinical-practice-position-paper-of/)
- [Biofilms in the large bowel suggest an apparent function of the human vermiform appendix](https://scholariq.org/papers/biofilms-in-the-large-bowel-suggest-an-apparent-function-of-the-human-vermiform/)
- [Enteroendocrine cells: a review of their role in brain–gut communication](https://scholariq.org/papers/enteroendocrine-cells-a-review-of-their-role-in-brain-gut-communication/)
- [What is the impact of fecal incontinence on quality of life?](https://scholariq.org/papers/what-is-the-impact-of-fecal-incontinence-on-quality-of-life/)
- [Activation of Human Enteric Neurons by Supernatants of Colonic Biopsy Specimens From Patients With Irritable Bowel Syndrome](https://scholariq.org/papers/activation-of-human-enteric-neurons-by-supernatants-of-colonic-biopsy-specimens/)
- [Neurogenic bowel dysfunction score](https://scholariq.org/papers/neurogenic-bowel-dysfunction-score/)
- [Anal Dynamic Graciloplasty in the Treatment of Intractable Fecal Incontinence](https://scholariq.org/papers/anal-dynamic-graciloplasty-in-the-treatment-of-intractable-fecal-incontinence/)
- [Intestinal microbiota shapes gut physiology and regulates enteric neurons and glia](https://scholariq.org/papers/intestinal-microbiota-shapes-gut-physiology-and-regulates-enteric-neurons-and/)
- [More Is Not Always Better: Increased Fractional Anisotropy of Superior Longitudinal Fasciculus Associated with Poor Visuospatial Abilities in Williams Syndrome](https://scholariq.org/papers/more-is-not-always-better-increased-fractional-anisotropy-of-superior/)
- [Inflammatory neuropathies of the enteric nervous system☆](https://scholariq.org/papers/inflammatory-neuropathies-of-the-enteric-nervous-system/)
- [A homozygous mutation in the endothelin-3 gene associated with a combined Waardenburg type 2 and Hirschsprung phenotype (Shah-Waardenburg syndrome)](https://scholariq.org/papers/a-homozygous-mutation-in-the-endothelin-3-gene-associated-with-a-combined/)

## Topic primary papers

Showing 15 of 32.

- [A homozygous mutation in the endothelin-3 gene associated with a combined Waardenburg type 2 and Hirschsprung phenotype (Shah-Waardenburg syndrome)](https://scholariq.org/papers/a-homozygous-mutation-in-the-endothelin-3-gene-associated-with-a-combined/)
- [Hirschsprung's disease in Japan: analysis of 3852 patients based on a nationwide survey in 30 years](https://scholariq.org/papers/hirschsprung-s-disease-in-japan-analysis-of-3852-patients-based-on-a-nationwide/)
- [ERNICA guidelines for the management of rectosigmoid Hirschsprung’s disease](https://scholariq.org/papers/ernica-guidelines-for-the-management-of-rectosigmoid-hirschsprung-s-disease/)
- [Bowel Function and Quality of Life After Transanal Endorectal Pull-through for Hirschsprung Disease](https://scholariq.org/papers/bowel-function-and-quality-of-life-after-transanal-endorectal-pull-through-for/)
- [Bowel Function and Gastrointestinal Quality of Life Among Adults Operated for Hirschsprung Disease During Childhood](https://scholariq.org/papers/bowel-function-and-gastrointestinal-quality-of-life-among-adults-operated-for/)
- [Long-term outcomes of Hirschsprung's disease](https://scholariq.org/papers/long-term-outcomes-of-hirschsprung-s-disease/)
- [Hirschsprung disease](https://scholariq.org/papers/hirschsprung-disease/)
- [Nonsense and Frameshift Mutations in ZFHX1B, Encoding Smad-Interacting Protein 1, Cause a Complex Developmental Disorder with a Great Variety of Clinical Features](https://scholariq.org/papers/nonsense-and-frameshift-mutations-in-zfhx1b-encoding-smad-interacting-protein-1/)
- [Long-term outcomes and the quality of life of Hirschsprung disease in adolescents who have reached 18 years or older—a 47-year single-institute experience](https://scholariq.org/papers/long-term-outcomes-and-the-quality-of-life-of-hirschsprung-disease-in/)
- [New classification of hypoganglionosis: congenital and acquired hypoganglionosis](https://scholariq.org/papers/new-classification-of-hypoganglionosis-congenital-and-acquired-hypoganglionosis/)
- [The incidence and outcome of allied disorders of Hirschsprung's disease in Japan: Results from a nationwide survey](https://scholariq.org/papers/the-incidence-and-outcome-of-allied-disorders-of-hirschsprung-s-disease-in-japan/)
- [Midterm follow-up study of high-type imperforate anus after laparoscopically assisted anorectoplasty](https://scholariq.org/papers/midterm-follow-up-study-of-high-type-imperforate-anus-after-laparoscopically/)
- [De novo 13q deletions in two patients with mild anorectal malformations as part of VATER/VACTERL and VATER/VACTERL‐like association and analysis of <i>EFNB2</i> in patients with anorectal malformations](https://scholariq.org/papers/de-novo-13q-deletions-in-two-patients-with-mild-anorectal-malformations-as-part/)
- [Comprehensive review of the duplication 3q syndrome and report of a patient with Currarino syndrome and <i>de novo</i> duplication 3q26.32‐q27.2](https://scholariq.org/papers/comprehensive-review-of-the-duplication-3q-syndrome-and-report-of-a-patient-with/)
- [Findings of pelvic musculature and efficacy of laparoscopic muscle stimulator in laparoscopy-assisted anorectal pull-through for high imperforate anus](https://scholariq.org/papers/findings-of-pelvic-musculature-and-efficacy-of-laparoscopic-muscle-stimulator-in/)

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Source: ScholarIQ — public research metadata, principally OpenAlex. See https://scholariq.org/sources/ for provenance and https://scholariq.org/methodology/ for what these figures mean.