Associated Papers
Calcitonin Thresholds for Prediction of Medullary Thyroid Carcinoma and its Clinical Response in MEN2A Gene Carriers.
Prete A et al.
The Journal of Clinical Endocrinology and Metabolism, 2026
A novel multimodal diagnostic framework integrating hyperspectral imaging and deep learning for predicting RET gene mutations in medullary thyroid carcinoma.
Yang Z et al.
Computer Methods and Programs in Biomedicine, 2026
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
Do Prognostic Differences Exist Among High-Risk RET Mutations? A Comparison of Outcomes Between the RET C634R and Other C634 Mutations in Hereditary Medullary Thyroid Carcinoma.
Zhang J et al.
Thyroid : Official Journal of the American Thyroid Association, 2025
Discriminating activating, deactivating and resistance variants in protein kinases.
Singh G et al.
Genome Medicine, 2025
Proposed framework for triage of putative germline variants detected via tumour genomic testing in UK oncology practice.
McVeigh TP et al.
Journal of Medical Genetics, 2025
Prevalence and genetics of "de novo" MEN2 syndromes.
Casalini R et al.
The Journal of Clinical Endocrinology and Metabolism, 2025
Characteristics of RET gene mutations in Vietnamese medullary thyroid carcinoma patients: a single-center analysis.
Pham VH et al.
Journal of Pathology and Translational Medicine, 2025
Clinical comparison and genetic analysis in pheochromocytoma with primary aldosteronism.
Mai X et al.
Endocrine Journal, 2025
Genetic landscape of Romanian PPGLs.
Lider-Burciulescu SM et al.
Journal of Cellular and Molecular Medicine, 2024
Analysis of 14,392 whole genomes reveals 3.5% of Qataris carry medically actionable variants.
Elfatih A et al.
European Journal of Human Genetics : Ejhg, 2024
Endocrine Perspective of Cutaneous Lichen Amyloidosis: RET-C634 Pathogenic Variant in Multiple Endocrine Neoplasia Type 2.
Florescu AF et al.
Clinics and Practice, 2024
Thyroid Malignancy and Cutaneous Lichen Amyloidosis: Key Points Amid RET Pathogenic Variants in Medullary Thyroid Cancer/Multiple Endocrine Neoplasia Type 2 (MEN2).
Stanescu LS et al.
International Journal of Molecular Sciences, 2024
RET 634 germline/gonadal mosaicism generating a second pathogenic amino acid change in multiple endocrine neoplasia type 2A.
Valente FOF et al.
American Journal of Medical Genetics. Part A, 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
Pediatric head and neck manifestations associated with multiple endocrine neoplasia syndromes.
Jellins T et al.
International Journal of Pediatric Otorhinolaryngology, 2023
Cytoplasmic HIF-2α as tissue biomarker to identify metastatic sympathetic paraganglioma.
Karakaya S et al.
Scientific Reports, 2023
Progress and challenges in RET-targeted cancer therapy.
Hu X et al.
Frontiers of Medicine, 2023
A Familial Case of Multiple Endocrine Neoplasia 2A: From Morphology to Genetic Alterations Penetration in Three Generations of a Family.
Chen L et al.
Diagnostics (basel, Switzerland), 2023
Biomarker testing in patients diagnosed with advanced/metastatic medullary thyroid cancer in the USA.
Bhandari NR et al.
Personalized Medicine, 2023
Germline genetic variants in pheochromocytoma/paraganglioma: single-center experience.
Lima JV et al.
Endocrine Oncology (bristol, England), 2023
Integrated proteogenomic characterization of medullary thyroid carcinoma.
Shi X et al.
Cell Discovery, 2022
Multiple endocrine neoplasia type 2 and autoimmune polyendocrine syndromes (type 1 diabetes mellitus and Graves' disease) in a 16-year-old male with Kabuki syndrome.
Park E et al.
Endocrine Journal, 2022
Novel Calcium-Binding Ablating Mutations Induce Constitutive RET Activity and Drive Tumorigenesis.
Tabata J et al.
Cancer Research, 2022
Medullary thyroid cancer and pheochromocytoma in MEN2A: are there parent of origin effects on disease expression?
Machens A et al.
Familial Cancer, 2022
[Clinical and genetic analysis of seven Chinese pedigrees affected with multiple endocrine neoplasia type 2A with cutaneous lichen amyloidosis].
Fang X et al.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi = Zhonghua Yixue Yichuanxue Zazhi = Chinese Journal of Medical Genetics, 2022
Medullary Thyroid Carcinoma and Associated Endocrinopathies in Slovenia from 1995 to 2021.
Milicevic S et al.
Life (basel, Switzerland), 2022
Somatic RET Indels in Sporadic Medullary Thyroid Cancer: Prevalence and Response to Selpercatinib.
Elisei R et al.
The Journal of Clinical Endocrinology and Metabolism, 2022
Recurrent ipsilateral pheochromocytoma in carriers of RET p.Cys634 missense mutations.
Machens A et al.
Endocrine, 2022
RET c.1901G>A and Novel SLC12A3 Mutations in Familial Pheochromocytomas
Zhao L et al.
Genes, 2022
Are transient protein-protein interactions more dispensable?
Ghadie MA et al.
Plos Computational Biology, 2022
Sex differences in MEN 2A penetrance and expression according to parental inheritance.
Machens A et al.
European Journal of Endocrinology, 2022
Diagnostic characteristics, treatment patterns, and clinical outcomes for patients with advanced/metastatic medullary thyroid cancer.
Parikh R et al.
Thyroid Research, 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
Simultaneous bilateral laparoscopic cortical-sparing adrenalectomy for bilateral pheochromocytomas in multiple endocrine neoplasia type 2.
Qi XP et al.
Frontiers in Surgery, 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
Hereditary Medullary Thyroid Carcinoma: Genotype, Phenotype and Outcomes in a North Indian Cohort.
Valiveru RC et al.
World Journal of Surgery, 2021
The importance of the RET gene in thyroid cancer and therapeutic implications.
Salvatore D et al.
Nature Reviews. Endocrinology, 2021
Crude annual incidence rate of medullary thyroid cancer and RET mutation frequency.
Milićević S et al.
Croatian Medical Journal, 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
Germline Pathogenic Variants Identified by Targeted Next-Generation Sequencing of Susceptibility Genes in Pheochromocytoma and Paraganglioma.
Yalcintepe S et al.
Journal of Kidney Cancer and Vhl, 2021
The synergy of germline C634Y and V292M RET mutations in a northern Chinese family with multiple endocrine neoplasia type 2A.
Yang Z et al.
Journal of Cellular and Molecular Medicine, 2020
First proof of association between autoimmune polyglandular syndrome and multiple endocrine neoplasia in humans.
Manso J et al.
Endocrine Journal, 2020
HEREDITARY ENDOCRINE TUMOURS: CURRENT STATE-OF-THE-ART AND RESEARCH OPPORTUNITIES: Early thyroidectomy in multiple endocrine neoplasia: a four decade experience.
Grubbs EG et al.
Endocrine-related Cancer, 2020
100-Year evolution of precision medicine and surgery for multiple endocrine neoplasia type 2A.
Machens A et al.
Endocrine, 2020
An investigation on the expression of miRNAs including miR-144 and miR-34a in plasma samples of RET-positive and RET-negative medullar thyroid carcinoma patients.
Shabani N et al.
Journal of Cellular Physiology, 2020