Associated Papers
Hereditary Medullary Thyroid Cancer: Genotype-Phenotype Correlation.
Frank-Raue K et al.
Recent Results in Cancer Research. Fortschritte Der Krebsforschung. Progres Dans Les Recherches Sur Le Cancer, 2025
Molecular Basis and Natural History of Medullary Thyroid Cancer: It is (Almost) All in the RET.
Sahakian N et al.
Cancers, 2023
Pancreatic Cancer-Related Mutational Burden Is Not Increased in a Patient Cohort With Clinically Severe Chronic Pancreatitis.
Cowan RW et al.
Clinical and Translational Gastroenterology, 2021
Modifier Role of Common RET Variants in Sporadic Medullary Thyroid Carcinoma.
Skalniak A et al.
International Journal of Molecular Sciences, 2021
Prevalence of germline pathogenic variants in 22 cancer susceptibility genes in Swedish pediatric cancer patients.
von Stedingk K et al.
Scientific Reports, 2021
[New mutations associated with Hirschsprung disease].
Lorente-Ros M et al.
Anales De Pediatria, 2020
A deep analysis using panel-based next-generation sequencing in an Ecuadorian pediatric patient with anaplastic astrocytoma: a case report.
García-Cárdenas JM et al.
Journal of Medical Case Reports, 2020
Medullary Thyroid Carcinoma Associated with Germline RETK666N Mutation.
Xu JY et al.
Thyroid : Official Journal of the American Thyroid Association, 2016
RET and EDNRB mutation screening in patients with Hirschsprung disease: Functional studies and its implications for genetic counseling.
Widowati T et al.
European Journal of Human Genetics : Ejhg, 2016
Genome-wide discovery of human splicing branchpoints.
Mercer TR et al.
Genome Research, 2015
Hereditary Medullary Thyroid Cancer Genotype-Phenotype Correlation.
Frank-Raue K et al.
Recent Results in Cancer Research. Fortschritte Der Krebsforschung. Progres Dans Les Recherches Sur Le Cancer, 2015
Recurrence of Hirschsprung disease due to maternal mosaicism of a novel RET gene mutation.
Amiñoso C et al.
Clinical Genetics, 2014
Cribriform adenocarcinoma of minor salivary glands may express galectin-3, cytokeratin 19, and HBME-1 and contains polymorphisms of RET and H-RAS proto-oncogenes.
Laco J et al.
Virchows Archiv : an International Journal of Pathology, 2012
Genotype-phenotype correlation in multiple endocrine neoplasia type 2.
Raue F et al.
Clinics (sao Paulo, Brazil), 2012
Variant identification in multi-sample pools by illumina genome analyzer sequencing.
Margraf RL et al.
Journal of Biomolecular Techniques : Jbt, 2011
Novel classification and pathogenetic analysis of hypoganglionosis and adult-onset Hirschsprung's disease.
Do MY et al.
Digestive Diseases and Sciences, 2011
Molecular genetics and phenomics of RET mutations: Impact on prognosis of MTC.
Frank-Raue K et al.
Molecular and Cellular Endocrinology, 2010
Multiple endocrine neoplasia type 2 RET protooncogene database: repository of MEN2-associated RET sequence variation and reference for genotype/phenotype correlations.
Margraf RL et al.
Human Mutation, 2009
A novel missense mutation in the PHOX2B gene is associated with late onset central hypoventilation syndrome.
Parodi S et al.
Pediatric Pulmonology, 2008
RET genotypes in sporadic medullary thyroid cancer: studies in a large Italian series.
Fugazzola L et al.
Clinical Endocrinology, 2008
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
Novel mutations of RET gene in Korean patients with sporadic Hirschsprung's disease.
Kim JH et al.
Journal of Pediatric Surgery, 2006
A rare RET gene exon 8 mutation is found in two Greek kindreds with familial medullary thyroid carcinoma: implications for screening.
Kaldrymides P et al.
Clinical Endocrinology, 2006
Novel intronic polymorphisms in the RET proto-oncogene and their association with Hirschsprung disease.
Fitze G et al.
Human Mutation, 2003
[Hirschsprung disease and primary central hyperventilation syndrome: a new form of neurocristopathy].
Arroyo Carrera I et al.
Anales Espanoles De Pediatria, 1993
Medullary thyroid carcinoma (MTC) and RET proto-oncogene: mutation spectrum in the familial cases and a meta-analysis of studies on the sporadic form.
Figlioli G et al.
Mutation Research, 0