Results 251 to 260 of about 178,713 (349)

Data‐Independent Acquisition Mass Spectrometry in Tumor Classification and Cancer Biomarker Research

Mass Spectrometry Reviews, EarlyView.
Abstract Cancer treatment is far from optimal also because current classification systems do not reflect the complex molecular status of the tumor and its phenotype in sufficient detail. To construct molecular tumor classifiers, omics tools provide complex molecular data reflecting many aspects from genotype to phenotype.
Jan Simonik, Petr Lapcik, Pavla Bouchalova, Pavel Bouchal   +3 more
wiley   +1 more source

Identification of Poor Prognostic Markers in Triple-Negative Breast Cancer Using Whole Exome Sequencing. [PDF]

J Breast Cancer
Lee S, Kim HY, Jung YJ, Kang SK, Ryu M, Lee M, Lee SM, Oh SH, Lee J, Jeong S, Kang J, Kim JY.   +11 more
europepmc   +1 more source

Whole-Exome Sequencing for Molecular Diagnosis of Paediatric Nephrotic Syndrome in Africa: A Call for Implementation. [PDF]

Genes (Basel)
Gcobo T, Katsukunya JN, Lamola L, Awany D, Ndadza A, Dandara C, Mnika K.   +6 more
europepmc   +1 more source

Whole-exome sequencing of FFPE samples reveals mutations associated with Luminal A breast cancer recurrence. [PDF]

BMC Biotechnol
Lv K, Chen Y, Zhou J, Ji F, Hu W.
europepmc   +1 more source

Movement Disorders Associated with 22q11.2 Microdeletion: A Scoping Review

Movement Disorders Clinical Practice, EarlyView.
Abstract Background Movement disorders have recently emerged as important neurologic manifestations of the 22q11.2 microdeletion that affects nearly one in every 2000 live births. Objective We aimed to map the existing evidence regarding the spectrum, diagnosis and treatment, and etiopathogenesis of movement disorders associated with 22q11.2 ...
Nikolai Gil D. Reyes, Daniel G. Di Luca, Connie Marras, Erik Boot, Ryan K.C. Yuen, Anthony E. Lang, Anne S. Bassett   +6 more
wiley   +1 more source

Whole Exome Sequencing for the Identification of Mutations in Bone Marrow CD34+Cells in Hodgkin Lymphoma. [PDF]

Curr Issues Mol Biol
Trang PTH, Trang DT, Huong PT, Nhat PV, Sopjani M, Giang NH, Canh NX, Giang NV, Nam NT, Vuong NB, Binh VD, Xuan NT.   +11 more
europepmc   +1 more source

A recurrent mosaic mutation in SMO, encoding the hedgehog signal transducer smoothened, is the major cause of Curry-Jones syndrome [PDF]

, 2016
et al,, Grange, Dorothy K
core   +1 more source

Application of whole exome sequencing in metachronous lung cancers evaluation

, 2015
MP Wong, Xuyuan Gao, Kwan Tk, Huamin Xu, Vpc Tin, Julian Wang, Zengtuan Xiao, Feng Xu   +7 more
openalex   +1 more source

Integrating Long‐Read Nanopore Sequencing for Precision Resolution of Genomic Variants in Dystonia

Movement Disorders, EarlyView.
Abstract Background Although many individuals with dystonia present with features indicative of single‐gene etiologies, obtaining definitive genetic diagnoses can be challenging. Objective We assessed the value of nanopore‐based long‐read sequencing (LRS) in achieving molecular clarification of dystonic syndromes.
Ugo Sorrentino, Martin Pavlov, Nazanin Mirza‐Schreiber, Melanie Brugger, Theresa Brunet, Eugenia Tsoma, Alice Saparov, Ivana Dzinovic, Philip Harrer, Antonia M. Stehr, Matias Wagner, Erik Tilch, Barbara Wallacher, Shiraz Alhasan, Anne Koy, Alessio Di Fonzo, Miriam Kolnikova, Katarina Kusikova, Petra Havrankova, Raushana Tautanova, Sandy Lösecke, Sebastian Eck, Sylvia Boesch, Jan Necpal, Matej Skorvanek, Robert Jech, Holger Prokisch, Juliane Winkelmann, Konrad Oexle, Elisabeth Graf, Michael Zech   +30 more
wiley   +1 more source

Mapping the Somatic Mutation Landscape of Familial NF2-Related Schwannomatosis using Whole-Exome Sequencing. [PDF]

Int J Med Sci
Luo F, Jiang L, Pan Y, Li H, Tan J, Wu C, Liu Q.   +6 more
europepmc   +1 more source