Associated Papers
Patient-Derived in Vitro Models Reveal Insights into Medullary Thyroid Cancer Microenvironment and Resistance to Tyrosine Kinase Inhibitors.
Grassi ES et al.
Thyroid : Official Journal of the American Thyroid Association, 2026
Multi-center multi-omics integration predicts individualized prognosis in medullary thyroid carcinoma.
Zhou Y et al.
Nature Communications, 2026
Landscape of Phenotype-Genotype Correlations in Romanian Patients with Medullary Thyroid Carcinoma.
Stanescu LS et al.
Cancers, 2025
RET Gene Alterations in Clinical Practice: A Comprehensive Review and Database Update.
Ricciardi Tenore C et al.
Genes, 2025
Geospatial inheritance across the breath of the RET mutational landscape of multiple endocrine neoplasia 2A.
Machens A et al.
Endocrine, 2025
Prevalence and genetics of "de novo" MEN2 syndromes.
Casalini R et al.
The Journal of Clinical Endocrinology and Metabolism, 2025
Cost-effectiveness of Genetic Testing of Endocrine Tumor Patients Using a Comprehensive Hereditary Cancer Gene Panel.
Patócs A et al.
The Journal of Clinical Endocrinology and Metabolism, 2024
Multiple endocrine neoplasia type 2: towards a risk-based approach integrating molecular and biomarker results.
Machens A et al.
Current Opinion in Oncology, 2024
Looking for RET alterations in thyroid cancer: clinical relevance, methodology and timing.
Elisei R et al.
Endocrine, 2023
RET Proto-Oncogene Variants in Patients with Medullary Thyroid Carcinoma from the Mediterranean Basin: A Brief Report.
Neocleous V et al.
Life (basel, Switzerland), 2023
Germline genetic variants in pheochromocytoma/paraganglioma: single-center experience.
Lima JV et al.
Endocrine Oncology (bristol, England), 2023
Treatment of RET-Positive Advanced Medullary Thyroid Cancer with Multi-Tyrosine Kinase Inhibitors-A Retrospective Multi-Center Registry Analysis.
Koehler VF et al.
Cancers, 2022
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
GLOBAL ENDOCRINOLOGY: Geographical variation in the profile of RET variants in patients with medullary thyroid cancer: a comprehensive review.
Maciel RMB et al.
European Journal of Endocrinology, 2021
Correlation of molecular data with histopathological and clinical features in a series of 66 patients with medullary thyroid carcinoma.
Moura MM et al.
Journal of Endocrinological Investigation, 2021
The importance of the RET gene in thyroid cancer and therapeutic implications.
Salvatore D et al.
Nature Reviews. Endocrinology, 2021
Spectrum of Germline RET variants identified by targeted sequencing and associated Multiple Endocrine Neoplasia type 2 susceptibility in China.
Qi XP et al.
Bmc Cancer, 2021
Role of tissue and circulating microRNAs and DNA as biomarkers in medullary thyroid cancer.
Chiacchiarini M et al.
Pharmacology & Therapeutics, 2021
A Narrative Review of Genetic Alterations in Primary Thyroid Epithelial Cancer.
Romei C et al.
International Journal of Molecular Sciences, 2021
Germline RET variants underlie a subset of paediatric osteosarcoma.
Kovac M et al.
Journal of Medical Genetics, 2021
The Emerging Genetic Landscape of Hirschsprung Disease and Its Potential Clinical Applications.
Karim A et al.
Frontiers in Pediatrics, 2021
Comprehensive Immune Profiling of Medullary Thyroid Cancer.
Pozdeyev N et al.
Thyroid : Official Journal of the American Thyroid Association, 2020
What is new about the genetic background of Hirschsprung disease?
Luzón-Toro B et al.
Clinical Genetics, 2020
Twenty-Five Years Experience on RET Genetic Screening on Hereditary MTC: An Update on The Prevalence of Germline RET Mutations.
Elisei R et al.
Genes, 2019
Unique association of multiple endocrine neoplasia 2A and congenital anomalies of the kidney and urinary tract in a child with a RET mutation.
Wood OR et al.
Bmj Case Reports, 2019
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
p.Ser891Ala RET gene mutations in medullary thyroid cancer: Phenotypical and genealogical characterization of 28 apparently unrelated kindreds and founder effect uncovering in Northern Italy.
Giacché M et al.
Human Mutation, 2019
Detection of Molecular Alterations in Taiwanese Patients with Medullary Thyroid Cancer Using Whole-Exome Sequencing.
Chang YS et al.
Endocrine Pathology, 2018
Genotype-specific progression of hereditary medullary thyroid cancer.
Machens A et al.
Human Mutation, 2018
Medullary Thyroid Carcinoma With Exon 2 p.L56M RET Variant: Clinical Particular Features in Two Patients.
Paragliola RM et al.
Frontiers in Endocrinology, 2018
Inhibitor repurposing reveals ALK, LTK, FGFR, RET and TRK kinases as the targets of AZD1480.
Gudernova I et al.
Oncotarget, 2017
Reduced Retinoblastoma Protein Expression Is Associated with Decreased Patient Survival in Medullary Thyroid Cancer.
Valenciaga A et al.
Thyroid : Official Journal of the American Thyroid Association, 2017
Prognostic markers and response to vandetanib therapy in sporadic medullary thyroid cancer patients.
Tiedje V et al.
European Journal of Endocrinology, 2016
The diagnostic application of RNA sequencing in patients with thyroid cancer: an analysis of 851 variants and 133 fusions in 524 genes.
Pagan M et al.
Bmc Bioinformatics, 2016
Twenty years of lesson learning: how does the RET genetic screening test impact the clinical management of medullary thyroid cancer?
Romei C et al.
Clinical Endocrinology, 2015
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
Comprehensive assessment of the disputed RET Y791F variant shows no association with medullary thyroid carcinoma susceptibility.
Toledo RA et al.
Endocrine-related Cancer, 2015
Clinical and genetic correlations of familial Hirschsprung's disease.
Moore SW et al.
Journal of Pediatric Surgery, 2015
The value of genetic screening in medullary thyroid cancer.
Pappa T et al.
Expert Review of Endocrinology & Metabolism, 2014
A MEN2A family with two asymptomatic carriers affected by unilateral renal agenesis.
Hibi Y et al.
Endocrine Journal, 2014
An extended family with familial medullary thyroid carcinoma and Hirschsprung's disease.
Igarashi T et al.
Journal of Nippon Medical School = Nippon Ika Daigaku Zasshi, 2014
Chromosomal and related Mendelian syndromes associated with Hirschsprung's disease.
Moore SW
Pediatric Surgery International, 2012
Consensus: a framework for evaluation of uncertain gene variants in laboratory test reporting.
Crockett DK et al.
Genome Medicine, 2012
[Hirschsprung's disease and medullary carcinoma of the thyroids: two diseases in a monogenetic disorder].
Olivares Muñoz M et al.
Cirugia Pediatrica : Organo Oficial De La Sociedad Espanola De Cirugia Pediatrica, 2012
RET haplotype, not linked to the C620R activating mutation, associated with Hirschsprung disease in a novel MEN2 family.
Quedas EP et al.
Clinics (sao Paulo, Brazil), 2012
The Hirschsprung's-multiple endocrine neoplasia connection.
Moore SW et al.
Clinics (sao Paulo, Brazil), 2012
Multiple endocrine neoplasia type 2: achievements and current challenges.
Machens A et al.
Clinics (sao Paulo, Brazil), 2012