review article | Q7318358 |
scholarly article | Q13442814 |
P356 | DOI | 10.1002/JCB.26149 |
P698 | PubMed publication ID | 28543993 |
P50 | author | Amir Avan | Q39182983 |
Seyed Mahdi Hassanian | Q87772002 | ||
P2093 | author name string | Mina Maftouh | |
Gordon A Ferns | |||
Afsane Bahrami | |||
Marjan Joodi | |||
Mehrdad Moetamani-Ahmadi | |||
P2860 | cites work | Genome-wide copy number analysis uncovers a new HSCR gene: NRG3 | Q21144917 |
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Homozygous nonsense mutations in KIAA1279 are associated with malformations of the central and enteric nervous systems | Q24533575 | ||
Neuregulin 1 and susceptibility to schizophrenia | Q24616921 | ||
Novel mutations at RET ligand genes preventing receptor activation are associated to Hirschsprung's disease | Q28302375 | ||
Genome-wide association study identifies NRG1 as a susceptibility locus for Hirschsprung's disease | Q28943464 | ||
Receptor-tyrosine-kinase- and Gβγ-mediated MAP kinase activation by a common signalling pathway | Q30193170 | ||
Copy number variants in candidate genes are genetic modifiers of Hirschsprung disease | Q31021758 | ||
Novel association of severe neonatal encephalopathy and Hirschsprung disease in a male with a duplication at the Xq28 region | Q33699316 | ||
Multi-locus Test Conditional on Confirmed Effects Leads to Increased Power in Genome-wide Association Studies | Q33754653 | ||
Fine mapping of the NRG1 Hirschsprung's disease locus | Q33809286 | ||
Fine mapping of the 9q31 Hirschsprung's disease locus. | Q33853719 | ||
Differential contributions of rare and common, coding and noncoding Ret mutations to multifactorial Hirschsprung disease liability | Q33960467 | ||
Specific serum microRNA profile in the molecular diagnosis of Hirschsprung's disease | Q34311215 | ||
Exome sequencing identified NRG3 as a novel susceptible gene of Hirschsprung's disease in a Chinese population | Q34322326 | ||
A genome-wide association study identifies potential susceptibility loci for Hirschsprung disease | Q34331688 | ||
A founding locus within the RET proto-oncogene may account for a large proportion of apparently sporadic Hirschsprung disease and a subset of cases of sporadic medullary thyroid carcinoma | Q34355050 | ||
Aberrant methylation of the PTCH1 gene promoter region in aberrant crypt foci | Q34402306 | ||
A common sex-dependent mutation in a RET enhancer underlies Hirschsprung disease risk. | Q34411392 | ||
Trisomy 7 mosaicism, maternal uniparental heterodisomy 7 and Hirschsprung's disease in a child with Silver-Russell syndrome | Q34421272 | ||
The contribution of associated congenital anomalies in understanding Hirschsprung's disease | Q34565449 | ||
Hirschsprung disease, associated syndromes and genetics: a review | Q34584242 | ||
Genetic basis of Hirschsprung's disease. | Q34986444 | ||
Common genetic variations in Patched1 (PTCH1) gene and risk of hirschsprung disease in the Han Chinese population | Q35000877 | ||
Hedgehog/Notch-induced premature gliogenesis represents a new disease mechanism for Hirschsprung disease in mice and humans | Q35187033 | ||
Studying the genetics of Hirschsprung's disease: unraveling an oligogenic disorder | Q35992939 | ||
Effects of RET, NRG1 and NRG3 Polymorphisms in a Chinese Population with Hirschsprung Disease | Q37679036 | ||
Alternative first exons of PTCH1 are differentially regulated in vivo and may confer different functions to the PTCH1 protein | Q38363444 | ||
RET and NRG1 interplay in Hirschsprung disease. | Q39196293 | ||
Targeting the tumor microenvironment as a potential therapeutic approach in colorectal cancer: Rational and progress. | Q39346123 | ||
Potential association of VAMP5 polymorphisms with total colonic aganglionosis in Hirschsprung disease | Q40857463 | ||
Association Analysis of SLC6A20 Polymorphisms With Hirschsprung Disease | Q40862912 | ||
RET in human development and oncogenesis | Q41113046 | ||
Close linkage with the RET protooncogene and boundaries of deletion mutations in autosomal dominant Hirschsprung disease | Q41518797 | ||
Genetic variants of IL-11 associated with risk of Hirschsprung disease | Q41588843 | ||
Allelic loss at Drosophila patched gene is highly prevalent in Basal and squamous cell carcinomas of the skin | Q42491008 | ||
Transethnic meta-analysis of genomewide association studies | Q42572583 | ||
Single nucleotide polymorphic alleles in the 5' region of the RET proto-oncogene define a risk haplotype in Hirschsprung's disease. | Q43074007 | ||
Investigation of germline GFRA4 mutations and evaluation of the involvement of GFRA1, GFRA2, GFRA3, and GFRA4 sequence variants in Hirschsprung disease | Q43074273 | ||
Reduced RET expression in gut tissue of individuals carrying risk alleles of Hirschsprung's disease | Q43188332 | ||
Genome-wide association study and mouse model identify interaction between RET and EDNRB pathways in Hirschsprung disease | Q44159321 | ||
TTF-1 and RET promoter SNPs: regulation of RET transcription in Hirschsprung's disease | Q46232266 | ||
Association of genetic polymorphisms in the RET-protooncogene and NRG1 with Hirschsprung disease in Thai patients. | Q51809403 | ||
Hirschsprung disease, mental retardation, characteristic facial features, and mutation in the gene ZFHX1B (SIP1): confirmation of the Mowat-Wilson syndrome. | Q51951191 | ||
Mutations in the NRG1 gene are associated with Hirschsprung disease | Q57233951 | ||
Novel intronic polymorphisms in theRET proto-oncogene and their association with Hirschsprung disease | Q57338186 | ||
P433 | issue | 1 | |
P304 | page(s) | 28-33 | |
P577 | publication date | 2017-06-27 | |
P1433 | published in | Journal of Cellular Biochemistry | Q6294917 |
P1476 | title | Genetic Background of Hirschsprung Disease: A Bridge Between Basic Science and Clinical Application | |
P478 | volume | 119 |
Q55648915 | Association between DSCAM polymorphisms and non-syndromic Hirschsprung disease in Chinese population. |
Q52562883 | Association of VAMP5 and MCC genetic polymorphisms with increased risk of Hirschsprung disease susceptibility in Southern Chinese children. |
Q64058799 | Downregulation of Protein Tyrosine Phosphatase Receptor Type R Accounts for the Progression of Hirschsprung Disease |
Q60300275 | Intestinal Duplication and Hirschsprung's Disease: An Extremely Rare and Misleading Combination |