نتایج جستجو برای: rare mutation

تعداد نتایج: 516877  

Journal: :OncoTargets and Therapy 2021

Gallbladder cancer is a highly aggressive malignancy with an extremely poor prognosis. Germline BRCA1 mutation in gallbladder very rare. Herein, we present case of 73-year-old Asian patient diagnosed lymph nodes and peritoneal metastases just two months after surgery for primary cancer. The had past history early-stage breast received left radical mastectomy 27 years ago. Next-generation sequen...

Journal: :International Journal of Contemporary Pediatrics 2023

Hyper IgE syndrome (HIES) is a rare immunodeficiency syndrome, with autosomal dominant inheritance, caused mainly due to STAT 3 mutation. The affected children usually present atopic dermatitis, recurrent staphylococcal infections, phenotypic characteristics and increased levels. Though, there case report of autoimmune thyroiditis in HIES, congenital hypothyroidism not reported. Here we HIES ty...

Journal: :Consilium medicum 2022

The main goal is to improve treatment outcomes of disseminated inoperable thyroid cancer through a personalized choice targeted agents. Considering gene mutations in drug will further the survival patients with rare mutations. Despite small sample patients, mutation detection, regardless localization, and basket studies allow future results be obtained much faster than dozen years use these thi...

Journal: :Molecular and experimental biology in medicine 2020

Journal: :Canadian Journal of Gastroenterology and Hepatology 2014

Journal: :British Journal of Surgery 2021

Abstract Introduction The diagnosis and treatment of Gastro-intestinal stromal tumours (GISTs) has been revolutionized by molecular pathology targeted therapy. Description This patient was diagnosed with locally advanced gastric GIST in 2009. He initially treated neoadjuvantly imatinib from 2009- 2010. underwent laparoscopic resection Pathology showed almost complete response only 1.5mm focus v...

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