Associated Papers
A Series of Patients with Genodermatoses in a Reference Service for Rare Diseases: Results from the Brazilian Rare Genomes Project.
Steiner CE et al.
Genes, 2025
Targeted next-generation sequencing of 491 lung cancers in clinical practice: Implications for future detection strategy and targeted therapy.
Liu XD et al.
Heliyon, 2024
Identification of Potential Genomic Alterations Using Pan-Cancer Cell-Free DNA Next-Generation Sequencing in Patients With Gastric Cancer.
Kim B et al.
Annals of Laboratory Medicine, 2024
Comprehensive Approach to Genomic and Immune Profiling: Insights of a Real-World Experience in Gynecological Tumors.
Prieto-Potin I et al.
Diagnostics (basel, Switzerland), 2022
A novel pathogenic splice site variation in STK11 gene results in Peutz-Jeghers syndrome.
Zhao N et al.
Molecular Genetics & Genomic Medicine, 2021
Fibroblast growth factor receptor 3 (FGFR3) aberrations in muscle-invasive urothelial carcinoma.
Kim YS et al.
Bmc Urology, 2018
Molecular Characterization of Urothelial Carcinoma of the Bladder and Upper Urinary Tract.
Lee JY et al.
Translational Oncology, 2018
Genetic analysis and clinical description of Greek patients with Peutz-Jeghers syndrome: Creation of a National Registry.
Fostira F et al.
Cancer Genetics, 2018
Disease pattern in Danish patients with Peutz-Jeghers syndrome.
Jelsig AM et al.
International Journal of Colorectal Disease, 2016
Mutational profiling of brain metastasis from breast cancer: matched pair analysis of targeted sequencing between brain metastasis and primary breast cancer.
Lee JY et al.
Oncotarget, 2015
Molecular characterization of patients with pathologic complete response or early failure after neoadjuvant chemotherapy for locally advanced breast cancer using next generation sequencing and nCounter assay.
Park K et al.
Oncotarget, 2015
High-throughput sequencing and copy number variation detection using formalin fixed embedded tissue in metastatic gastric cancer.
Kim S et al.
Plos One, 2014
High Resolution Melting analysis as a rapid and efficient method of screening for small mutations in the STK11 gene in patients with Peutz-Jeghers syndrome.
Borun P et al.
Bmc Medical Genetics, 2013
Truncating mutations in Peutz-Jeghers syndrome are associated with more polyps, surgical interventions and cancers.
Salloch H et al.
International Journal of Colorectal Disease, 2010
Molecular and clinical characteristics in 46 families affected with Peutz-Jeghers syndrome.
Mehenni H et al.
Digestive Diseases and Sciences, 2007
A novel mutation in STK11 gene is associated with Peutz-Jeghers Syndrome in Indian patients.
Thakur N et al.
Bmc Medical Genetics, 2006
STK11 genotyping and cancer risk in Peutz-Jeghers syndrome.
Schumacher V et al.
Journal of Medical Genetics, 2005
Gene symbol: STK11. Disease: Peutz-Jeghers syndrome.
Schumacher V et al.
Human Genetics, 2005
Gene symbol: STK11. Disease: Peutz-Jeghers syndrome.
Schumacher V et al.
Human Genetics, 2005
Gene symbol: STK11. Disease: Peutz-Jeghers syndrome.
Schumacher V et al.
Human Genetics, 2005
Gene symbol: STK11. Disease: Peutz-Jeghers syndrome.
Schumacher V et al.
Human Genetics, 2005
Gene symbol: STK11. Disease: Peutz-Jeghers syndrome.
Schumacher V et al.
Human Genetics, 2005
Gene symbol: STK11. Disease: Peutz-Jeghers syndrome.
Schumacher V et al.
Human Genetics, 2005
Gene symbol: STK11. Disease: Peutz-Jeghers syndrome.
Schumacher V et al.
Human Genetics, 2005
Gene symbol: STK11. Disease: Peutz-Jeghers syndrome.
Schumacher V et al.
Human Genetics, 2005
Functional analysis of LKB1/STK11 mutants and two aberrant isoforms found in Peutz-Jeghers Syndrome patients.
Boudeau J et al.
Human Mutation, 2003