Associated Papers
Unravelling the role of PLK1 in tumorigenesis by revealing the mutational landscape of colorectal and lung cancer with PLK1 mutations.
Wang S et al.
Journal of Cellular and Molecular Medicine, 2024
Patient tissue-derived FGFR4-variant and wild-type colorectal cancer organoid development and anticancer drug sensitivity testing.
Lin H et al.
Heliyon, 2024
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
Whole exome sequencing of high-risk neuroblastoma identifies novel non-synonymous variants.
Przybyła W et al.
Plos One, 2022
Paired comparisons of mutational profiles before and after brachytherapy in asian uveal melanoma patients.
Lee WS et al.
Scientific Reports, 2021
Prevalence of germline pathogenic variants in 22 cancer susceptibility genes in Swedish pediatric cancer patients.
von Stedingk K et al.
Scientific Reports, 2021
Melanoma with in-frame deletion of MAP2K1: a distinct molecular subtype of cutaneous melanoma mutually exclusive from BRAF, NRAS, and NF1 mutations.
Williams EA et al.
Modern Pathology : an Official Journal of the United States and Canadian Academy of Pathology, Inc, 2020
Targeted Exome Sequencing Identifies PBX1 as Involved in Monogenic Congenital Anomalies of the Kidney and Urinary Tract.
Heidet L et al.
Journal of the American Society of Nephrology : Jasn, 2017
The RET E616Q Variant is a Gain of Function Mutation Present in a Family with Features of Multiple Endocrine Neoplasia 2A.
Grey W et al.
Endocrine Pathology, 2017
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
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
Multiple endocrine neoplasia type 2 syndromes (MEN 2): results from the ItaMEN network analysis on the prevalence of different genotypes and phenotypes.
Romei C et al.
European Journal of Endocrinology, 2010
RET Gly691Ser mutation is associated with primary vesicoureteral reflux in the French-Canadian population from Quebec.
Yang Y et al.
Human Mutation, 2008
[Molecular biology, basic research and diagnosis of Hirschsprung's disease].
Martucciello G et al.
Der Pathologe, 2007
A new germline RET mutation apparently devoid of transforming activity serendipitously discovered in a patient with atrophic autoimmune thyroiditis and primary ovarian failure.
Orgiana G et al.
The Journal of Clinical Endocrinology and Metabolism, 2004
Highly recurrent RET mutations and novel mutations in genes of the receptor tyrosine kinase and endothelin receptor B pathways in Chinese patients with sporadic Hirschsprung disease.
Garcia-Barceló M et al.
Clinical Chemistry, 2004