Targeted next‐generation sequencing enables reliable detection of HER2 (ERBB2) status in breast cancer and provides ancillary information of clinical relevance
Sign Up to like & getrecommendations! Published in 2017 at "Genes"
DOI: 10.1002/gcc.22431
Abstract: HER2‐positive breast cancers are a heterogeneous group of tumors, which share amplification and overexpression of HER2. In routine diagnostics, the HER2 (ERBB2) status is currently assessed by immunohistochemistry (IHC) and in situ hybridization (ISH). Data… read more here.
Keywords: status; targeted next; erbb2 status; breast ... See more keywords
Targeted next‐generation sequencing in a large series of fetuses with severe renal diseases
Sign Up to like & getrecommendations! Published in 2022 at "Human Mutation"
DOI: 10.1002/humu.24324
Abstract: We report the screening of a large panel of genes in a series of 100 fetuses (98 families) affected with severe renal defects. Causative variants were identified in 22% of cases, greatly improving genetic counseling.… read more here.
Keywords: series; next generation; targeted next; severe renal ... See more keywords
Study of pathophysiology and molecular characterization of congenital anemia in India using targeted next-generation sequencing approach
Sign Up to like & getrecommendations! Published in 2019 at "International Journal of Hematology"
DOI: 10.1007/s12185-019-02716-9
Abstract: Most patients with anemia are diagnosed through clinical phenotype and basic laboratory testing. Nonetheless, in cases of rare congenital anemias, some patients remain undiagnosed despite undergoing an exhaustive workup. Genetic testing is complicated by the… read more here.
Keywords: targeted next; anemia; next generation; generation sequencing ... See more keywords
Mutational landscape of primary pulmonary salivary gland-type tumors through targeted next-generation sequencing.
Sign Up to like & getrecommendations! Published in 2021 at "Lung cancer"
DOI: 10.1016/j.lungcan.2021.07.011
Abstract: OBJECTIVES Primary pulmonary salivary gland-type tumors (PSGTs) mainly comprise of mucoepidermoid carcinoma (MEC) and adenoid cystic carcinoma (ACC), which are rare and molecularly poorly understood. This study aimed to profile the molecular alterations of PSGTs… read more here.
Keywords: targeted next; primary pulmonary; type tumors; salivary gland ... See more keywords
Targeted next-generation sequencing reveals novel and rare variants in Indian patients with amyotrophic lateral sclerosis
Sign Up to like & getrecommendations! Published in 2018 at "Neurobiology of Aging"
DOI: 10.1016/j.neurobiolaging.2018.05.012
Abstract: Studies on genetic aberrations among Indian amyotrophic lateral sclerosis (ALS) patients are limited to C9orf72 and ATXN2 repeat expansions and mutations in the SOD1 gene. In this study, we used targeted next-generation sequencing to analyze… read more here.
Keywords: targeted next; novel rare; amyotrophic lateral; rare variants ... See more keywords
Silent genetic alterations identified by targeted next-generation sequencing in pheochromocytoma/paraganglioma: A clinicopathological correlations.
Sign Up to like & getrecommendations! Published in 2017 at "Experimental and molecular pathology"
DOI: 10.1016/j.yexmp.2016.12.007
Abstract: AIMS The goal of this pilot study was to develop a customized, cost-effective amplicon panel (Ampliseq) for target sequencing in a cohort of patients with sporadic phaeochromocytoma/paraganglioma. METHODS Phaeochromocytoma/paragangliomas from 25 patients were analysed by… read more here.
Keywords: targeted next; ingenuity; silent genetic; next generation ... See more keywords
Combined mutation and copy-number variation detection by targeted next-generation sequencing in uveal melanoma
Sign Up to like & getrecommendations! Published in 2018 at "Modern Pathology"
DOI: 10.1038/modpathol.2017.187
Abstract: Uveal melanoma is a highly aggressive cancer of the eye, in which nearly 50% of the patients die from metastasis. It is the most common type of primary eye cancer in adults. Chromosome and mutation… read more here.
Keywords: melanoma; targeted next; pathology; uveal melanoma ... See more keywords
Targeted next-generation sequencing revealed a novel homozygous mutation in the LRBA gene causes severe haemolysis associated with Inborn Errors of Immunity in an Indian family.
Sign Up to like & getrecommendations! Published in 2022 at "Hematology"
DOI: 10.1080/16078454.2022.2058736
Abstract: ABSTRACT Objectives LPS-responsive beige-like anchor protein (LRBA) deficiency abolishes LRBA protein expression due to biallelic mutations in the LRBA gene that lead to autoimmune manifestations, inflammatory bowel disease, hypogammaglobulinemia in early stages, and variable clinical… read more here.
Keywords: lrba gene; revealed novel; next generation; targeted next ... See more keywords
Targeted next-generation sequencing for differential diagnosis of neurofibromatosis type 2, schwannomatosis, and meningiomatosis
Sign Up to like & getrecommendations! Published in 2018 at "Neuro-Oncology"
DOI: 10.1093/neuonc/noy009
Abstract: Background Clinical overlap between neurofibromatosis type 2 (NF2), schwannomatosis, and meningiomatosis can make clinical diagnosis difficult. Hence, molecular investigation of germline and tumor tissues may improve the diagnosis. Methods We present the targeted next-generation sequencing… read more here.
Keywords: targeted next; schwannomatosis; diagnosis; schwannomatosis meningiomatosis ... See more keywords
Clinical utility of targeted next‐generation sequencing panel in routine diagnosis of hereditary hemolytic anemia: A national reference laboratory experience
Sign Up to like & getrecommendations! Published in 2023 at "European Journal of Haematology"
DOI: 10.1111/ejh.13951
Abstract: Hereditary hemolytic anemias (HHA) comprise a heterogeneous group of disorders resulting from defective red blood cell (RBC) cytoskeleton, RBC enzyme deficiencies, and hemoglobin (Hb) synthesis disorders such as thalassemia or sideroblastic anemia. read more here.
Keywords: hereditary hemolytic; clinical utility; utility targeted; next generation ... See more keywords
Targeted next‐generation sequencing of adult gliomas for retrospective prognostic evaluation and up‐front diagnostics
Sign Up to like & getrecommendations! Published in 2020 at "Neuropathology and Applied Neurobiology"
DOI: 10.1111/nan.12645
Abstract: We aimed to reclassify a population‐based cohort of 529 adult glioma patients to evaluate the prognostic impact of the 2016 World Health Organization (WHO) central nervous system tumour classification. Moreover, we evaluated the feasibility of… read more here.
Keywords: targeted next; sequencing adult; next generation; generation sequencing ... See more keywords