Works matching DE "HIRSCHSPRUNG'S disease"
Results: 1594
Mammal-restricted elements predispose human RET to folding impairment by HSCR mutations.
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- Nature Structural & Molecular Biology, 2010, v. 17, n. 6, p. 726, doi. 10.1038/nsmb.1808
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- Article
The enteric nervous system promotes intestinal health by constraining microbiota composition.
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- PLoS Biology, 2017, v. 15, n. 2, p. 1, doi. 10.1371/journal.pbio.2000689
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- Article
Reduced endothelin converting enzyme‐1 and endothelin‐3 mRNA in the developing bowel of male mice may increase expressivity and penetrance of Hirschsprung disease–like distal intestinal aganglionosis.
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- Developmental Dynamics, 2007, v. 236, n. 1, p. 106, doi. 10.1002/dvdy.21028
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- Article
Novel intronic polymorphisms in the RET proto-oncogene and their association with Hirschsprung disease (Communicated by Mark H. Paalman) Online Citation: Human Mutation, Mutation in Brief #632 (2003) Online http://www.interscience.wiley.com/humanmutation/pdf/mutation/632.pdf)
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- Human Mutation, 2003, v. 22, n. 2, p. 177, doi. 10.1002/humu.9161
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- Article
Novel intronic polymorphisms in the RET proto?oncogene and their association with Hirschsprung diseaseCommunicated by Mark H. PaalmanOnline Citation: Human Mutation, Mutation in Brief #632 (2003) Onlinehttp://www.interscience.wiley.com/humanmutation/pdf/mutation/632.pdf
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- Human Mutation, 2003, v. 22, n. 2, p. 177, doi. 10.1002/humu.9161
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- Article
Microsurgical management of a ruptured intracranial mycotic aneurysm in infancy.
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- 2024
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- Case Study
Oesophageal Achalasia with Epiphrenic Diverticulum with Laparoscopic Approach: A 6-Year Follow-Up.
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- Digestive Surgery, 2006, v. 23, n. 1/2, p. 27, doi. 10.1159/000092802
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- Article
Full-thickness rectal biopsies in diagnosis of Hirschsprung disease: 13 years of experience of a single center.
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- Northern Clinics of Istanbul, 2025, v. 12, n. 1, p. 138, doi. 10.14744/nci.2025.97455
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- Article
Calretinin immunohistochemical staining in Hirschsprung's disease: An institutional experience.
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- Northern Clinics of Istanbul, 2021, v. 8, n. 6, p. 601, doi. 10.14744/nci.2020.69376
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- Article
CONSTIPAÇÃO INTESTINAL CRÔNICA GRAVE EM CRIANÇA: UM RELATO DE CASO.
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- Revista Foco (Interdisciplinary Studies Journal), 2024, v. 17, n. 9, p. 1, doi. 10.54751/revistafoco.v17n9-030
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- Article
Sox10 is required for Schwann cell identity and progression beyond the immature Schwann cell stage.
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- Journal of Cell Biology, 2010, v. 189, n. 4, p. 701, doi. 10.1083/jcb.200912142
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- Article
腔镜下Soave 根治术与开腹改良Soave 术治疗长段型先天性巨结肠患儿 的疗效比较及对应激反应和控便功能的影响.
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- Progress in Modern Biomedicine, 2022, v. 22, n. 15, p. 2954, doi. 10.13241/j.cnki.pmb.2022.15.030
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- Article
Three-dimensional high-resolution anorectal manometry in children after surgery for anorectal disorders.
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- European Review for Medical & Pharmacological Sciences, 2021, v. 25, n. 7, p. 2981
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- Article
Congenital Heart Defects in Hirschsprung's Disease: A Survey in Iranian Population.
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- Iranian Journal of Neonatology, 2022, v. 13, n. 1, p. 37, doi. 10.22038/IJN.2021.57874.2088
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- Article
Evaluation of the Diagnostic Value of Calretinin Immunohistochemistry Assay in the Superficial Rectal Biopsy of Children Suspected of Hirschsprung's Disease.
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- Iranian Journal of Neonatology, 2022, v. 13, n. 1, p. 25, doi. 10.22038/IJN.2021.56993.2073
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- Article
A Case of Idiopathic Diffuse Pneumoperitoneum Presented with Neonatal Abdominal Color Change.
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- Iranian Journal of Neonatology, 2021, v. 12, n. 2, p. 105, doi. 10.22038/ijn.2021.51786.1915
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- Article
Is Meconium Obstruction Distinguishable from Intestinal Obstruction through Ultrasound?
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- Iranian Journal of Neonatology, 2019, v. 10, n. 1, p. 72, doi. 10.22038/ijn.2018.30639.1420
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- Article
Role of Inflammation and the NF-κB Signaling Pathway in Hirschsprung's Disease.
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- Biomolecules (2218-273X), 2024, v. 14, n. 8, p. 992, doi. 10.3390/biom14080992
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- Article
Use of Cosmetics in Pregnancy and Neurotoxicity: Can It Increase the Risk of Congenital Enteric Neuropathies?
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- Biomolecules (2218-273X), 2024, v. 14, n. 8, p. 984, doi. 10.3390/biom14080984
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- Article
Bioinformatics Prediction for Network-Based Integrative Multi-Omics Expression Data Analysis in Hirschsprung Disease.
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- Biomolecules (2218-273X), 2024, v. 14, n. 2, p. 164, doi. 10.3390/biom14020164
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- Article
The Crucial Role of the Interstitial Cells of Cajal in Neurointestinal Diseases.
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- Biomolecules (2218-273X), 2023, v. 13, n. 9, p. 1358, doi. 10.3390/biom13091358
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- Article
A Novel Method for Identifying the Transition Zone in Long-Segment Hirschsprung Disease: Investigating the Muscle Unit to Ganglion Ratio.
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- Biomolecules (2218-273X), 2022, v. 12, n. 8, p. 1101, doi. 10.3390/biom12081101
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- Article
Intestinal fibrosis in aganglionic segment of Hirschsprung's disease revealed by single‐cell RNA sequencing.
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- Clinical & Translational Medicine, 2023, v. 13, n. 2, p. 1, doi. 10.1002/ctm2.1193
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- Article
Pelvic Floor Videos.
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- Colorectal Disease, 2014, v. 16, p. E1, doi. 10.1111/codi.12736
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- Article
Late malignancy within rectal duplication and Hirschsprung's disease.
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- Colorectal Disease, 2011, v. 13, n. 10, p. e357, doi. 10.1111/j.1463-1318.2011.02608.x
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- Article
Adult Hirschsprung's disease in Jamaica: operative treatment and outcome.
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- Colorectal Disease, 2011, v. 13, n. 4, p. 454, doi. 10.1111/j.1463-1318.2009.02174.x
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- Article
Clinical features' diagnostics and treatment of Hirschsprung's disease in adults Treatment of Hirschsprung's disease.
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- Colorectal Disease, 2010, v. 12, n. 12, p. 1242, doi. 10.1111/j.1463-1318.2009.02031.x
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- Article
Diagnosis of Hirschsprung’s Disease: an age-related approach in children below or above one year.
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- Colorectal Disease, 2010, v. 12, n. 10, p. 1044, doi. 10.1111/j.1463-1318.2009.01940.x
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- Article
Late presentation of Hirschsprung’s disease as sigmoid colon volvulus: report of four cases and review of the literature.
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- Colorectal Disease, 2010, v. 12, n. 7, p. 704, doi. 10.1111/j.1463-1318.2009.02030.x
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- Article
Set-up and statistical validation of a new scoring system for obstructed defaecation syndrome.
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- Colorectal Disease, 2008, v. 10, n. 1, p. 84, doi. 10.1111/j.1463-1318.2007.01262.x
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- Article
Gemellus.
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- 2004
- Publication type:
- Other
A double-stapled anastomosis to facilitate colorectal anastomosis in the Duhamel operation.
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- Colorectal Disease, 1999, v. 1, n. 2, doi. 10.1046/j.1463-1318.1999.00029.x
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- Article
Identification and validation of the common pathogenesis and hub biomarkers in Hirschsprung disease complicated with Crohn’s disease.
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- Frontiers in Immunology, 2022, v. 13, p. 1, doi. 10.3389/fimmu.2022.961217
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- Article
Lymphomas in cartilage-hair hypoplasia - A case series of 16 patients reveals advanced stage DLBCL as the most common form.
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- Frontiers in Immunology, 2022, v. 13, p. 1, doi. 10.3389/fimmu.2022.1004694
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- Article
Endothelin B Receptor Immunodynamics in Pulmonary Arterial Hypertension.
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- Frontiers in Immunology, 2022, v. 13, p. 1, doi. 10.3389/fimmu.2022.895501
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- Article
Functional Studies on Novel RET Mutations and Their Implications for Genetic Counseling for Hirschsprung Disease.
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- Frontiers in Genetics, 2019, p. 1, doi. 10.3389/fgene.2019.00924
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- Article
Whole Exome Sequencing Identifies a Novel Pathogenic RET Variant in Hirschsprung Disease.
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- Frontiers in Genetics, 2019, p. N.PAG, doi. 10.3389/fgene.2018.00752
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- Article
Congenital anomalies of the kidney and urinary tract in a cohort of 280 consecutive patients with Hirschsprung disease.
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- Pediatric Nephrology, 2021, v. 36, n. 10, p. 3151, doi. 10.1007/s00467-021-05061-4
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- Article
Buyer beware! doctor be aware!: Questions.
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- Pediatric Nephrology, 2013, v. 28, n. 9, p. 1785, doi. 10.1007/s00467-012-2338-y
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- Article
Calcium/Calmodulin-dependent Serine Protein Kinase-associated Neuro-gastrointestinal Disorder: First Report of a Patient With Hirschsprung's Disease.
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- Journal of Neurogastroenterology & Motility, 2020, v. 26, n. 4, p. 556, doi. 10.5056/jnm20059
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- Article
Surgical Intervention to Rescue Hirschsprung Disease in a Rat Model.
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- Journal of Neurogastroenterology & Motility, 2015, v. 21, n. 4, p. 552, doi. 10.5056/jnm15079
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- Article
RET S409Y Germline Mutation and Associated Medullary Thyroid Carcinoma.
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- Thyroid, 2019, v. 29, n. 10, p. 1447, doi. 10.1089/thy.2018.0385
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- Article
Transcriptomics of Hirschsprung disease patient-derived enteric neural crest cells reveals a role for oxidative phosphorylation.
- Published in:
- Nature Communications, 2023, v. 14, n. 1, p. 1, doi. 10.1038/s41467-023-37928-5
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- Article
unusual case of abdominal compartment syndrome from a massive faecaloma.
- Published in:
- 2022
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- Publication type:
- Case Study
case of ultrashort-segment Hirschsprung's disease discovered after taking polyethylene glycol electrolyte solution for chronic constipation.
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- 2021
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- Case Study
How to avoid unnecessary surgical treatment for neonatal small left colon syndrome.
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- Journal of Surgical Case Reports, 2021, v. 2021, n. 4, p. 1, doi. 10.1093/jscr/rjab072
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- Article
Ultrashort-segment Hirschsprung disease in a 4-year-old female.
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- Journal of Surgical Case Reports, 2020, v. 2020, n. 9, p. 1, doi. 10.1093/jscr/rjaa320
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- Article
Transanal-only Swenson-like pull-through for late diagnosed Hirschsprung disease.
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- Journal of Surgical Case Reports, 2019, v. 2019, n. 12, p. N.PAG, doi. 10.1093/jscr/rjz341
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- Article
What else is hiding behind superior mesenteric artery syndrome?
- Published in:
- 2015
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- Publication type:
- Case Study
COMPARING SOAVE TECHNIQUE IN THE MANAGEMENT OF EARLY AND LATE DIAGNOSED CASES OF HIRSCHSPRUNG DISEASE: A RETROSPECTIVE SINGLE CENTER EXPERIENCE.
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- Journal of Pediatric Surgical Specialties, 2017, v. 11, n. 2, p. 48, doi. 10.21614/jpss.11.2.48
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- Article