HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1
|
|
0.700 |
GeneticVariation
|
UNIPROT |
RET mutational spectrum in Hirschsprung disease: evaluation of 601 Chinese patients.
|
22174939 |
2011 |
HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1
|
|
0.700 |
GeneticVariation
|
UNIPROT |
A human model for multigenic inheritance: phenotypic expression in Hirschsprung disease requires both the RET gene and a new 9q31 locus.
|
10618407 |
2000 |
HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1
|
|
0.700 |
GeneticVariation
|
UNIPROT |
Double heterozygosity for a RET substitution interfering with splicing and an EDNRB missense mutation in Hirschsprung disease.
|
10090908 |
1999 |
HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1
|
|
0.700 |
GeneticVariation
|
UNIPROT |
Two distinct mutations of the RET receptor causing Hirschsprung's disease impair the binding of signalling effectors to a multifunctional docking site.
|
10484767 |
1999 |
HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1
|
|
0.700 |
GeneticVariation
|
UNIPROT |
Hirschsprung disease in MEN 2A: increased spectrum of RET exon 10 genotypes and strong genotype-phenotype correlation.
|
9384613 |
1998 |
HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1
|
|
0.700 |
GeneticVariation
|
UNIPROT |
Mutation analysis of the RET, the endothelin-B receptor, and the endothelin-3 genes in sporadic cases of Hirschsprung's disease.
|
9094028 |
1997 |
HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1
|
|
0.700 |
GeneticVariation
|
UNIPROT |
Cys 618 Arg mutation in the RET proto-oncogene associated with familial medullary thyroid carcinoma and maternally transmitted Hirschsprung's disease suggesting a role for imprinting.
|
9259198 |
1997 |
HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1
|
|
0.700 |
GeneticVariation
|
UNIPROT |
Frequency of RET mutations in long- and short-segment Hirschsprung disease.
|
9090527 |
1997 |
HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1
|
|
0.700 |
GeneticVariation
|
UNIPROT |
Prevalence and parental origin of de novo RET mutations in Hirschsprung's disease.
|
9043870 |
1996 |
HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1
|
|
0.700 |
GeneticVariation
|
UNIPROT |
Mutation analysis of the RET receptor tyrosine kinase in Hirschsprung disease.
|
7633441 |
1995 |
HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1
|
|
0.700 |
GeneticVariation
|
UNIPROT |
Diversity of RET proto-oncogene mutations in familial and sporadic Hirschsprung disease.
|
7581377 |
1995 |
HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1
|
|
0.700 |
GeneticVariation
|
UNIPROT |
Mutations of the RET proto-oncogene in Hirschsprung's disease.
|
8114939 |
1994 |
HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1
|
|
0.700 |
GeneticVariation
|
UNIPROT |
Heterogeneity and low detection rate of RET mutations in Hirschsprung disease.
|
7704557 |
1994 |
HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1
|
|
0.700 |
GeneticVariation
|
UNIPROT |
Point mutations affecting the tyrosine kinase domain of the RET proto-oncogene in Hirschsprung's disease.
|
8114938 |
1994 |
HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1
|
|
0.700 |
GeneticVariation
|
UNIPROT |
Diverse phenotypes associated with exon 10 mutations of the RET proto-oncogene.
|
7881414 |
1994 |