Associated Papers
Intersection of rare pathogenic variants from TCGA in the All of Us Research Program v6.
Bates BA et al.
Hgg Advances, 2025
Genetic diagnosis of endocrine disorders in Cyprus through the Cyprus Institute of Neurology and Genetics: an ENDO-ERN Reference Center.
Neocleous V et al.
Orphanet Journal of Rare Diseases, 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
Prevalence of the cancer-associated germline variants in Russian adults and long-living individuals: using the ACMG recommendations and computational interpreters for pathogenicity assessment.
Gusakova M et al.
Frontiers in Oncology, 2024
[Primary hyperparathyroidism in children].
Benina AR et al.
Problemy Endokrinologii, 2023
Looking for RET alterations in thyroid cancer: clinical relevance, methodology and timing.
Elisei R et al.
Endocrine, 2023
Novel Calcium-Binding Ablating Mutations Induce Constitutive RET Activity and Drive Tumorigenesis.
Tabata J et al.
Cancer Research, 2022
An association test of the spatial distribution of rare missense variants within protein structures identifies Alzheimer's disease-related patterns.
Jin B et al.
Genome Research, 2022
A Case of Isolated Myeloid Sarcoma Associated With Germline EGFR T790M Variant: The Importance of Recognizing Potential Germline Variants on Somatic Tumor Sequencing Panels.
Walker M et al.
Journal of Hematology, 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
Variability in Medullary Thyroid Carcinoma in RET L790F Carriers: A Case Comparison Study of Index Patients.
Mathiesen JS et al.
Frontiers in Endocrinology, 2020
3P association (3PAs): Pituitary adenoma and pheochromocytoma/paraganglioma. A heterogeneous clinical syndrome associated with different gene mutations.
Guerrero-Pérez F et al.
European Journal of Internal Medicine, 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
Metabolomics signatures of a subset of RET variants according to their oncogenic risk level.
Veyrat-Durebex C et al.
Endocrine-related Cancer, 2019
[Familial medullary thyroid carcinoma: case report and literature review.]
Barletta Carrillo CF et al.
Revista De La Facultad De Ciencias Medicas (cordoba, Argentina), 2018
Genotype-specific progression of hereditary medullary thyroid cancer.
Machens A et al.
Human Mutation, 2018
Incidence and prevalence of sporadic and hereditary MTC in Denmark 1960-2014: a nationwide study.
Mathiesen JS et al.
Endocrine Connections, 2018
Germline mutations in candidate predisposition genes in individuals with cutaneous melanoma and at least two independent additional primary cancers.
Pritchard AL et al.
Plos One, 2018
Incidence and prevalence of multiple endocrine neoplasia 2A in Denmark 1901-2014: a nationwide study.
Mathiesen JS et al.
Clinical Epidemiology, 2018
Founder Effect of the RETC611Y Mutation in Multiple Endocrine Neoplasia 2A in Denmark: A Nationwide Study.
Mathiesen JS et al.
Thyroid : Official Journal of the American Thyroid Association, 2017
Novel Somatic RET Mutation Questioning the Causality of the RET I852M Germline Sequence Variant in Multiple Endocrine Neoplasia 2A.
Mathiesen JS et al.
Thyroid : Official Journal of the American Thyroid Association, 2017
Distribution of RET Mutations in Multiple Endocrine Neoplasia 2 in Denmark 1994-2014: A Nationwide Study.
Mathiesen JS et al.
Thyroid : Official Journal of the American Thyroid Association, 2017
Infantile spasms and encephalopathy without preceding neonatal seizures caused by KCNQ2 R198Q, a gain-of-function variant.
Millichap JJ et al.
Epilepsia, 2017
Identification of potentially oncogenic alterations from tumor-only samples reveals Fanconi anemia pathway mutations in bladder carcinomas.
Madubata CJ et al.
Npj Genomic Medicine, 2017
Correlative analyses of RET and RAS mutations in a phase 3 trial of cabozantinib in patients with progressive, metastatic medullary thyroid cancer.
Sherman SI et al.
Cancer, 2016
Multiple endocrine neoplasia type 2 kindred with novel tandem RET mutations: Case report with an applied in silico mutational tolerance analysis.
Joshi RR et al.
Head & Neck, 2016
[Retrospective NGS Study in High-risk Hereditary Cancer Patients at Masaryk Memorial Cancer Institute].
Macháčková E et al.
Klinicka Onkologie : Casopis Ceske a Slovenske Onkologicke Spolecnosti, 2016
Pathogenic Mutations in Cancer-Predisposing Genes: A Survey of 300 Patients with Whole-Genome Sequencing and Lifetime Electronic Health Records.
He KY et al.
Plos One, 2016
The role of genetic screening in medullary thyroid cancer: a clinician's view on the recent ATA guidelines.
Pappa T
Expert Review of Endocrinology & Metabolism, 2015
Universal genetic screening uncovers a novel presentation of an SDHAF2 mutation.
Casey R et al.
The Journal of Clinical Endocrinology and Metabolism, 2014
The value of genetic screening in medullary thyroid cancer.
Pappa T et al.
Expert Review of Endocrinology & Metabolism, 2014
Consensus: a framework for evaluation of uncertain gene variants in laboratory test reporting.
Crockett DK et al.
Genome Medicine, 2012
[Surgical prevention of breast carcinoma in patients with hereditary risk].
Dražan L et al.
Klinicka Onkologie : Casopis Ceske a Slovenske Onkologicke Spolecnosti, 2012
Germline RET sequence variation I852M and occult medullary thyroid cancer: harmless polymorphism or causative mutation?
Machens A et al.
Clinical Endocrinology, 2011
[Medullary thyroid cancer, a tumour with many appearances].
Verbeek HH et al.
Nederlands Tijdschrift Voor Geneeskunde, 2010
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
RET as a diagnostic and therapeutic target in sporadic and hereditary endocrine tumors.
de Groot JW et al.
Endocrine Reviews, 2006
An introduction to managing medullary thyroid cancer.
de Groot JW et al.
Hereditary Cancer in Clinical Practice, 2006
A rare variant, I852M, of the RET proto-oncogene in a patient with medullary thyroid carcinoma at age 20 years.
Demeester R et al.
Human Mutation, 2001
Patient-derived glioblastoma organoids reflect tumor heterogeneity and treatment sensitivity.
Verduin M et al.
Neuro-oncology Advances, 0