Works matching Hirschsprung's disease and genetics
Results: 113
Studying the genetics of Hirschsprung's disease: unraveling an oligogenic disorder.
- Published in:
- Clinical Genetics, 2005, v. 67, n. 1, p. 6, doi. 10.1111/j.1399-0004.2004.00319.x
- By:
- Publication type:
- Article
Common Genetic Variations in Patched1 (<i>PTCH1</i>) Gene and Risk of Hirschsprung Disease in the Han Chinese Population.
- Published in:
- PLoS ONE, 2013, v. 8, n. 9, p. 1, doi. 10.1371/journal.pone.0075407
- By:
- Publication type:
- Article
Functional Studies on Novel RET Mutations and Their Implications for Genetic Counseling for Hirschsprung Disease.
- Published in:
- Frontiers in Genetics, 2019, p. 1, doi. 10.3389/fgene.2019.00924
- By:
- Publication type:
- Article
A study on genetic polymorphism of RET proto-oncogene in Hirschsprung's disease in children.
- Published in:
- 2020
- By:
- Publication type:
- journal article
Correlating of GSTM1, GSTT1, and GSTP1 genetic polymorphisms with the risk and expressions in children with isolated Hirschsprung disease.
- Published in:
- International Journal of Colorectal Disease, 2011, v. 26, n. 1, p. 117, doi. 10.1007/s00384-010-1013-7
- By:
- Publication type:
- Article
Genetic polymorphisms of the SOX10 gene in Thai patients with sporadic Hirschsprung disease.
- Published in:
- Songklanakarin Journal of Science & Technology, 2020, v. 42, n. 3, p. 596
- By:
- Publication type:
- Article
Successful preimplantation genetic diagnosis (PGD) test for Hirschsprung disease.
- Published in:
- Reproductive BioMedicine Online (Reproductive Healthcare Limited), 2010, v. 20, p. S33, doi. 10.1016/S1472-6483(10)62347-4
- By:
- Publication type:
- Article
Successful pre-implantation genetic diagnosis for Hirschsprung disease.
- Published in:
- Clinical Genetics, 2011, v. 80, n. 4, p. 403, doi. 10.1111/j.1399-0004.2011.01634.x
- By:
- Publication type:
- Article
Hirschsprung's disease and medullary thyroid carcinoma: 15-year experience with molecular genetic screening of the RET proto-oncogene.
- Published in:
- Pediatric Surgery International, 2012, v. 28, n. 2, p. 123, doi. 10.1007/s00383-011-2993-2
- By:
- Publication type:
- Article
Enteric nervous system development and Hirschsprung's disease: advances in genetic and stem cell studies.
- Published in:
- 2007
- By:
- Publication type:
- journal article
The developmental genetics of Hirschsprung's disease The developmental genetics of Hirschsprung's disease.
- Published in:
- Clinical Genetics, 2013, v. 83, n. 1, p. 15, doi. 10.1111/cge.12032
- By:
- Publication type:
- Article
Rare and common genetic variants underlying the risk of Hirschsprung's disease.
- Published in:
- Human Molecular Genetics, 2025, v. 34, n. 7, p. 586, doi. 10.1093/hmg/ddae205
- By:
- Publication type:
- Article
Associations of CYP2B6 genetic polymorphisms with Hirschsprung's disease in a southern Chinese population.
- Published in:
- Journal of Clinical Laboratory Analysis, 2021, v. 35, n. 12, p. 1, doi. 10.1002/jcla.24074
- By:
- Publication type:
- Article
"Too much guts and not enough brains": (epi)genetic mechanisms and future therapies of Hirschsprung disease — a review.
- Published in:
- Clinical Epigenetics, 2019, v. 11, n. 1, p. N.PAG, doi. 10.1186/s13148-019-0718-x
- By:
- Publication type:
- Article
A Scoring System to Predict the Severity of Hirschsprung Disease at Diagnosis and Its Correlation With Molecular Genetics.
- Published in:
- Pediatric & Developmental Pathology, 2017, v. 30, n. 1, p. 28, doi. 10.1177/1093526616683883
- By:
- Publication type:
- Article
Significant Association of rs2147555 Genetic Polymorphism in the EDNRB Gene with Hirschsprung Disease in Southern Chinese Children.
- Published in:
- BioMed Research International, 2020, p. 1, doi. 10.1155/2020/5956412
- By:
- Publication type:
- Article
Comprehensive characterization of the genetic landscape of familial Hirschsprung's disease.
- Published in:
- World Journal of Pediatrics, 2023, v. 19, n. 7, p. 644, doi. 10.1007/s12519-023-00686-x
- By:
- Publication type:
- Article
Potential association between ITPKC genetic variations and Hirschsprung disease.
- Published in:
- Molecular Biology Reports, 2017, v. 44, n. 3, p. 307, doi. 10.1007/s11033-017-4111-6
- By:
- Publication type:
- Article
Genetics of Hirschsprung's disease.
- Published in:
- Pediatric Surgery International, 2023, v. 39, n. 1, p. 1, doi. 10.1007/s00383-022-05358-x
- By:
- Publication type:
- Article
Is intestinal stasis sufficient by itself in promoting enterocolitis in a non-genetic rat model of Hirschsprung's disease?
- Published in:
- Advances in Clinical & Experimental Medicine, 2019, v. 28, n. 10, p. 1429, doi. 10.17219/acem/109342
- By:
- Publication type:
- Article
Association of genetic polymorphisms in the RET-protooncogene and NRG1 with Hirschsprung disease in Thai patients.
- Published in:
- Journal of Human Genetics, 2012, v. 57, n. 5, p. 286, doi. 10.1038/jhg.2012.18
- By:
- Publication type:
- Article
Hirschsprungova choroba a její genetické příčiny.
- Published in:
- Czecho-Slovak Pediatrics / Česko-Slovenská Pediatrie, 2013, v. 68, n. 3, p. 167
- By:
- Publication type:
- Article
What is new about the genetic background of Hirschsprung disease?
- Published in:
- Clinical Genetics, 2020, v. 97, n. 1, p. 114, doi. 10.1111/cge.13615
- By:
- Publication type:
- Article
Genetic basis of Hirschsprung's disease.
- Published in:
- 2009
- By:
- Publication type:
- journal article
Distinctive genetic variation of long‐segment Hirschsprung's disease in Taiwan.
- Published in:
- Neurogastroenterology & Motility, 2019, v. 31, n. 11, p. N.PAG, doi. 10.1111/nmo.13665
- By:
- Publication type:
- Article
Genetic variants of IL-11 associated with risk of Hirschsprung disease.
- Published in:
- Neurogastroenterology & Motility, 2015, v. 27, n. 10, p. 1371, doi. 10.1111/nmo.12629
- By:
- Publication type:
- Article
High Levels of Interest in Reproductive Genetic Information in Parents of Children and Adults With Hirschsprung Disease.
- Published in:
- 2019
- By:
- Publication type:
- journal article
The advances of genetics research on Hirschsprung's disease.
- Published in:
- Pediatric Investigation, 2018, v. 2, n. 3, p. 189, doi. 10.1002/ped4.12062
- By:
- Publication type:
- Article
Population variation in total genetic risk of Hirschsprung disease from common RET, SEMA3 and NRG1 susceptibility polymorphisms.
- Published in:
- Human Molecular Genetics, 2015, v. 24, n. 10, p. 2997, doi. 10.1093/hmg/ddv051
- By:
- Publication type:
- Article
Identification of Genetic Loci Affecting the Severity of Symptoms of Hirschsprung Disease in Rats Carrying Ednrb<sup>sl</sup> Mutations by Quantitative Trait Locus Analysis.
- Published in:
- PLoS ONE, 2015, v. 10, n. 3, p. 1, doi. 10.1371/journal.pone.0122068
- By:
- Publication type:
- Article
RET and PHOX2B Genetic Polymorphisms and Hirschsprung's Disease Susceptibility: A Meta-Analysis.
- Published in:
- PLoS ONE, 2014, v. 9, n. 3, p. 1, doi. 10.1371/journal.pone.0090091
- By:
- Publication type:
- Article
Genetic Analyses of a Three Generation Family Segregating Hirschsprung Disease and Iris Heterochromia.
- Published in:
- PLoS ONE, 2013, v. 8, n. 6, p. 1, doi. 10.1371/journal.pone.0066631
- By:
- Publication type:
- Article
Genetic Background Strongly Modifies the Severity of Symptoms of Hirschsprung Disease, but not Hearing Loss in Rats Carrying Ednrb<sup>sl</sup> Mutations.
- Published in:
- PLoS ONE, 2011, v. 6, n. 9, p. 1, doi. 10.1371/journal.pone.0024086
- By:
- Publication type:
- Article
Copy Number Variants in Candidate Genes Are Genetic Modifiers of Hirschsprung Disease.
- Published in:
- PLoS ONE, 2011, v. 6, n. 6, p. 1, doi. 10.1371/journal.pone.0021219
- By:
- Publication type:
- Article
Associations of SLC6A20 Genetic Polymorphisms with Hirschsprung's Disease in a Southern Chinese population.
- Published in:
- Bioscience Reports, 2019, v. 39, n. 8, p. 1, doi. 10.1042/BSR20182290
- By:
- Publication type:
- Article
Association of <italic>NRG1</italic> and <italic>AUTS2</italic> genetic polymorphisms with Hirschsprung disease in a South Chinese population.
- Published in:
- Journal of Cellular & Molecular Medicine, 2018, v. 22, n. 4, p. 2190, doi. 10.1111/jcmm.13498
- By:
- Publication type:
- Article
Genetic Background of Hirschsprung Disease: A Bridge Between Basic Science and Clinical Application.
- Published in:
- Journal of Cellular Biochemistry, 2018, v. 119, n. 1, p. 28, doi. 10.1002/jcb.26149
- By:
- Publication type:
- Article
Associations between common genetic variants in microRNAs and Hirschsprung disease susceptibility in Southern Chinese children.
- Published in:
- Journal of Gene Medicine, 2021, v. 23, n. 2, p. 1, doi. 10.1002/jgm.3301
- By:
- Publication type:
- Article
Advances in Molecular Genetics of Hirschsprung's Disease.
- Published in:
- Anatomical Record: Advances in Integrative Anatomy & Evolutionary Biology, 2012, v. 295, n. 10, p. 1628, doi. 10.1002/ar.22538
- By:
- Publication type:
- Article
Genetische Grundlagen des Morbus Hirschsprung.
- Published in:
- Der Pathologe, 2007, v. 28, n. 2, p. 113, doi. 10.1007/s00292-007-0899-5
- By:
- Publication type:
- Article
Genetic variants in RET and risk of Hirschsprung's disease in Southeastern Chinese: a haplotype-based analysis.
- Published in:
- BMC Medical Genetics, 2011, v. 12, n. 1, p. 32, doi. 10.1186/1471-2350-12-32
- By:
- Publication type:
- Article
Exome sequencing reveals a high genetic heterogeneity on familial Hirschsprung disease.
- Published in:
- Scientific Reports, 2015, p. 16473, doi. 10.1038/srep16473
- By:
- Publication type:
- Article
Advances in Hirschsprung Disease Genetics and Treatment Strategies: An Update for the Primary Care Pediatrician.
- Published in:
- Clinical Pediatrics, 2014, v. 53, n. 1, p. 71, doi. 10.1177/0009922813500846
- By:
- Publication type:
- Article
Hirschsprung disease: a genetic study.
- Published in:
- Clinical Genetics, 1985, v. 28, n. 6, p. 503, doi. 10.1111/j.1399-0004.1985.tb00417.x
- By:
- Publication type:
- Article
Correlation Between Genetic Variations in Hox Clusters and Hirschsprung's Disease.
- Published in:
- Annals of Human Genetics, 2007, v. 71, n. 4, p. 526, doi. 10.1111/j.1469-1809.2007.00347.x
- By:
- Publication type:
- Article
Copy number variations in candidate genomic regions confirm genetic heterogeneity and parental bias in Hirschsprung disease.
- Published in:
- 2019
- By:
- Publication type:
- journal article
Japanese patients with sporadic Hirschsprung: mutation analysis of the receptor tyrosine kinase proto-oncogene, endothelin-B receptor, endothelin-3, glial cell line-derived neurotrophic factor and neurturin genes: a comparison with similar studies.
- Published in:
- 2000
- By:
- Publication type:
- journal article
Etiopathological aspects of achalasia: lessons learned with Hirschsprung's disease.
- Published in:
- Diseases of the Esophagus, 2012, v. 25, n. 6, p. 566, doi. 10.1111/j.1442-2050.2011.01277.x
- By:
- Publication type:
- Article
Chronic Intestinal Pseudo-Obstruction.
- Published in:
- Digestive Diseases, 2000, v. 18, n. 2, p. 83, doi. 10.1159/000016969
- By:
- Publication type:
- Article
Hirschsprung Disease Diagnosis: Calretinin Marker Role in Determining the Presence or Absence of Ganglion Cells.
- Published in:
- Iranian Journal of Pathology, 2016, v. 11, n. 4, p. 409
- By:
- Publication type:
- Article