Associated Papers
Clinical, manometric, genetic, and histologic associations in pediatric intestinal pseudo-obstruction: A case series.
Wolfson S et al.
Journal of Pediatric Gastroenterology and Nutrition, 2026
BRAF mutations and targeted therapy in unclassified pericytic tumors: insights from genetic analysis and clinical response.
Golan H et al.
Bmc Cancer, 2025
Alignment-free unique molecular identifier clustering suppresses sequencing errors for accurate detection of low-frequency DNA variants.
Yu F et al.
Briefings in Bioinformatics, 2025
Tumor DNA from tumor in situ fluid was used to track evolution of glioma under first-line treatment.
Yu J et al.
Frontiers in Oncology, 2025
Maternal Vitamin A Status as a Risk Factor of Hirschsprung Disease in the Child.
Hegde SG et al.
Clinical and Translational Gastroenterology, 2023
Protocol optimization of a targeted sequencing panel for genomic profiling of bronchoalveolar lavage fluid in lung cancer.
Sather CL et al.
Cancer Medicine, 2023
Response prediction in patients with gastric and esophagogastric adenocarcinoma under neoadjuvant chemotherapy using targeted gene expression analysis and next-generation sequencing in pre-therapeutic biopsies.
Kleo K et al.
Journal of Cancer Research and Clinical Oncology, 2023
Distribution of RET proto-oncogene variants in children with appendicitis.
Schultz J et al.
Molecular Genetics & Genomic Medicine, 2022
Combined multimodal ctDNA analysis and radiological imaging for tumor surveillance in Non-small cell lung cancer.
Metzenmacher M et al.
Translational Oncology, 2022
Case report: Two unique nonsense mutations in HTRA1-related cerebral small vessel disease in a Chinese population and literature review.
Chen W et al.
Frontiers in Neurology, 2022
Microsecond-timescale MD simulation of EGFR minor mutation predicts the structural flexibility of EGFR kinase core that reflects EGFR inhibitor sensitivity.
Yoshizawa T et al.
Npj Precision Oncology, 2021
Prevalence of germline pathogenic variants in 22 cancer susceptibility genes in Swedish pediatric cancer patients.
von Stedingk K et al.
Scientific Reports, 2021
Identification of New Tumor-Related Gene Mutations in Chinese Gastrointestinal Stromal Tumors.
Feng Y et al.
Frontiers in Cell and Developmental Biology, 2021
Patient-derived organoids and orthotopic xenografts of primary and recurrent gliomas represent relevant patient avatars for precision oncology.
Golebiewska A et al.
Acta Neuropathologica, 2020
MEN2-related pheochromocytoma: current state of knowledge, specific characteristics in MEN2B, and perspectives.
Amodru V et al.
Endocrine, 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
Temozolomide Is a Potential Therapeutic Tool for Patients With Metastatic Pheochromocytoma/Paraganglioma-Case Report and Review of the Literature.
Tong A et al.
Frontiers in Endocrinology, 2020
Intraventricular meningiomas frequently harbor NF2 mutations but lack common genetic alterations in TRAF7, AKT1, SMO, KLF4, PIK3CA, and TERT.
Jungwirth G et al.
Acta Neuropathologica Communications, 2019
Deleterious Mutations in DNA Repair Gene FANCC Exist in BRCA1/2-Negative Chinese Familial Breast and/or Ovarian Cancer Patients.
Pan ZW et al.
Frontiers in Oncology, 2019
The RET C611Y mutation causes MEN 2A and associated cutaneous
Qi XP et al.
Endocrine Connections, 2018
Modifying impact of RET gene haplotypes on medullary thyroid carcinoma clinical course.
Kaczmarek-Ryś M et al.
Endocrine-related Cancer, 2018
Letter to the Editor regarding the paper by N. Azzam et al. 'Germline polymorphisms on RET proto-oncogene involved in medullary thyroid carcinoma in a Druze family'.
Mathiesen JS et al.
European Journal of Cancer (oxford, England : 1990), 2018
Metaplastic breast cancer in a patient with neurofibromatosis type 1 and somatic loss of heterozygosity.
Suarez-Kelly LP et al.
Cold Spring Harbor Molecular Case Studies, 2018
Validation of CZECANCA (CZEch CAncer paNel for Clinical Application) for targeted NGS-based analysis of hereditary cancer syndromes.
Soukupova J et al.
Plos One, 2018
RET mutation p.S891A in a Chinese family with familial medullary thyroid carcinoma and associated cutaneous amyloidosis binding OSMR variant p.G513D.
Qi XP et al.
Oncotarget, 2015
CDH1 germ-line missense mutation identified by multigene sequencing in a family with no history of diffuse gastric cancer.
Lajus TB et al.
Gene, 2015
The rare intracellular RET mutation p.S891A in a Chinese Han family with familial medullary thyroid carcinoma.
Qi XP et al.
Journal of Biosciences, 2014
A MEN2A family with two asymptomatic carriers affected by unilateral renal agenesis.
Hibi Y et al.
Endocrine Journal, 2014
[Clinical diagnosis and treatment of familial medullary thyroid carcinoma caused by a p.C618Y RET proto-oncogene mutation in a Chinese pedigree].
Zhao JQ et al.
Zhonghua Yi Xue Za Zhi, 2013
Case report: a p.C618S RET proto-oncogene germline mutation in a large Chinese pedigree with familial medullary thyroid carcinoma.
Qi XP et al.
Familial Cancer, 2012
RET haplotype, not linked to the C620R activating mutation, associated with Hirschsprung disease in a novel MEN2 family.
Quedas EP et al.
Clinics (sao Paulo, Brazil), 2012
PHOX2B mutations in patients with Ondine-Hirschsprung disease and a review of the literature.
Kwon MJ et al.
European Journal of Pediatrics, 2011
Genetic variants in RET and risk of Hirschsprung's disease in Southeastern Chinese: a haplotype-based analysis.
Tou J et al.
Bmc Medical Genetics, 2011