Associated Papers
Geospatial inheritance across the breath of the RET mutational landscape of multiple endocrine neoplasia 2A.
Machens A et al.
Endocrine, 2025
Multiple endocrine neoplasia type 2: towards a risk-based approach integrating molecular and biomarker results.
Machens A et al.
Current Opinion in Oncology, 2024
Progress and challenges in RET-targeted cancer therapy.
Hu X et al.
Frontiers of Medicine, 2023
Sex differences in MEN 2A penetrance and expression according to parental inheritance.
Machens A et al.
European Journal of Endocrinology, 2022
Comprehensive Assessment of Indian Variations in the Druggable Kinome Landscape Highlights Distinct Insights at the Sequence, Structure and Pharmacogenomic Stratum.
Panda G et al.
Frontiers in Pharmacology, 2022
The importance of the RET gene in thyroid cancer and therapeutic implications.
Salvatore D et al.
Nature Reviews. Endocrinology, 2021
Long-term outcome after DNA-based prophylactic neck surgery in children at risk of hereditary medullary thyroid cancer.
Machens A et al.
Best Practice & Research. Clinical Endocrinology & Metabolism, 2019
Genotype and phenotype landscape of MEN2 in 554 medullary thyroid cancer patients: the BrasMEN study.
Maciel RMB et al.
Endocrine Connections, 2019
Genotype-specific progression of hereditary medullary thyroid cancer.
Machens A et al.
Human Mutation, 2018
A pioneering RET genetic screening study in the State of Ceará, Brazil, evaluating patients with medullary thyroid cancer and at-risk relatives: experience with 247 individuals.
Martins-Costa MC et al.
Archives of Endocrinology and Metabolism, 2018
In silico analysis of RET variants in medullary thyroid cancer: from the computer to the bedside.
Heineman TE et al.
Otolaryngology--head and Neck Surgery : Official Journal of American Academy of Otolaryngology-head and Neck Surgery, 2015
The value of genetic screening in medullary thyroid cancer.
Pappa T et al.
Expert Review of Endocrinology & Metabolism, 2014
Clinical spectrum of MEN2A in a large family caused by the infrequent RET mutation Cys609Phe.
Oriola J et al.
Clinical Genetics, 2013
Consensus: a framework for evaluation of uncertain gene variants in laboratory test reporting.
Crockett DK et al.
Genome Medicine, 2012
RET codon 609 mutations: a contribution for better clinical managing.
Mian C et al.
Clinics (sao Paulo, Brazil), 2012
Management of medullary thyroid carcinoma and MEN2 syndromes in childhood.
Waguespack SG et al.
Nature Reviews. Endocrinology, 2011
Risk profiles and penetrance estimations in multiple endocrine neoplasia type 2A caused by germline RET mutations located in exon 10.
Frank-Raue K et al.
Human Mutation, 2011
Multiple endocrine neoplasia type 2 syndromes (MEN 2): results from the ItaMEN network analysis on the prevalence of different genotypes and phenotypes.
Romei C et al.
European Journal of Endocrinology, 2010
When is prophylactic thyroidectomy indicated for patients with the RET codon 609 mutation?
Calva D et al.
Annals of Surgical Oncology, 2009
Beyond RET: potential therapeutic approaches for advanced and metastatic medullary thyroid carcinoma.
Santarpia L et al.
Journal of Internal Medicine, 2009
Familial prevalence and age of RET germline mutations: implications for screening.
Machens A et al.
Clinical Endocrinology, 2008
Pheochromocytoma penetrance varies by RET mutation in MEN 2A.
Quayle FJ et al.
Surgery, 2007
RET proto-oncogene genotyping using unlabeled probes, the masking technique, and amplicon high-resolution melting analysis.
Margraf RL et al.
The Journal of Molecular Diagnostics : Jmd, 2007
Drug insight: Small-molecule inhibitors of protein kinases in the treatment of thyroid cancer.
Santoro M et al.
Nature Clinical Practice. Endocrinology & Metabolism, 2006
Interaction of RET proto-oncogene codon 609 germline mutations with RET haplotypes characterized by c.135G>A alleles modifying MEN 2A or HSCR phenotypes.
Fitze G et al.
American Journal of Medical Genetics. Part A, 2004
Multiple endocrine neoplasia 2A syndrome: Surgical management.
Simon S et al.
Journal of Pediatric Surgery, 2002