Associated Papers
Prevalence of germline pathogenic variants in 22 cancer susceptibility genes in Swedish pediatric cancer patients.
von Stedingk K et al.
Scientific Reports, 2021
33674644 (PubMed )
Supplement: 41598_2021_84502_MOESM2_ESM.xlsx › S10_All_Variants
Variability in Medullary Thyroid Carcinoma in RET L790F Carriers: A Case Comparison Study of Index Patients.
Mathiesen JS et al.
Frontiers in Endocrinology, 2020
CINCA Syndrome With New NLRP3 Mutation and Unreported Complication of Thyroid Carcinoma.
Salehzadeh F et al.
Clinical Medicine Insights. Case Reports, 2019
Screening of the RET gene of Vietnamese Hirschsprung patients identifies 2 novel missense mutations.
Ngo DN et al.
Journal of Pediatric Surgery, 2012
Evaluation of RET polymorphisms in a six-generation family with G533C RET mutation: specific RET variants may modulate age at onset and clinical presentation.
Tamanaha R et al.
Clinical Endocrinology, 2009
A complex additive model of inheritance for Hirschsprung disease is supported by both RET mutations and predisposing RET haplotypes.
Ruiz-Ferrer M et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2006
Chinese patients with sporadic Hirschsprung's disease are predominantly represented by a single RET haplotype.
Garcia-Barceló MM et al.
Journal of Medical Genetics, 2003
Novel intronic polymorphisms in the RET proto-oncogene and their association with Hirschsprung disease.
Fitze G et al.
Human Mutation, 2003
RET and GDNF gene scanning in Hirschsprung patients using two dual denaturing gel systems.
Hofstra RM et al.
Human Mutation, 2000
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