Associated Papers
Whole-exome sequencing in children with dyslexia implicates rare variants in CLDN3 and ion channel genes.
Marianski K et al.
Human Genetics, 2025
Molecular Mutations in Histiocytosis: A Comprehensive Survey of Genetic Alterations.
Pai P et al.
Molecular Biotechnology, 2025
Comprehensive Genomic Profiling Alters Clinical Diagnoses in a Significant Fraction of Tumors Suspicious of Sarcoma.
Öfverholm I et al.
Clinical Cancer Research : an Official Journal of the American Association for Cancer Research, 2024
Novel Calcium-Binding Ablating Mutations Induce Constitutive RET Activity and Drive Tumorigenesis.
Tabata J et al.
Cancer Research, 2022
Inflammatory Breast Cancer: Clinical Implications of Genomic Alterations and Mutational Profiling.
Faldoni FLC et al.
Cancers, 2020
Unexpected cancer-predisposition gene variants in Cowden syndrome and Bannayan-Riley-Ruvalcaba syndrome patients without underlying germline PTEN mutations.
Yehia L et al.
Plos Genetics, 2018
Nationwide French Study of RET Variants Detected from 2003 to 2013 Suggests a Possible Influence of Polymorphisms as Modifiers.
Lebeault M et al.
Thyroid : Official Journal of the American Thyroid Association, 2017
Exome sequencing reveals a high genetic heterogeneity on familial Hirschsprung disease.
Luzón-Toro B et al.
Scientific Reports, 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
RET mutation and expression in small-cell lung cancer.
Dabir S et al.
Journal of Thoracic Oncology : Official Publication of the International Association for the Study of Lung Cancer, 2014
Testing new susceptibility genes in the cohort of apparently sporadic phaeochromocytoma/paraganglioma patients with clinical characteristics of hereditary syndromes.
Pęczkowska M et al.
Clinical Endocrinology, 2013
Measurement of calcitonin and calcitonin gene-related peptide mRNA refines the management of patients with medullary thyroid cancer and may replace calcitonin-stimulation tests.
Camacho CP et al.
Thyroid : Official Journal of the American Thyroid Association, 2013
Consensus: a framework for evaluation of uncertain gene variants in laboratory test reporting.
Crockett DK et al.
Genome Medicine, 2012
Genotype-phenotype correlation in multiple endocrine neoplasia type 2.
Raue F et al.
Clinics (sao Paulo, Brazil), 2012
Molecular mechanisms of RET receptor-mediated oncogenesis in multiple endocrine neoplasia 2.
Wagner SM et al.
Clinics (sao Paulo, Brazil), 2012
Predicting phenotypic severity of uncertain gene variants in the RET proto-oncogene.
Crockett DK et al.
Plos One, 2011
New mutations in the RET protooncogene-L881V - associated with medullary thyroid carcinoma and -R770Q - in a patient with mixed medullar/follicular thyroid tumour.
Frank-Raue K et al.
Experimental and Clinical Endocrinology & Diabetes : Official Journal, German Society of Endocrinology [and] German Diabetes Association, 2010
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