Results 131 to 140 of about 54,834 (268)

Combined Application of Chromosome Karyotype and Microarray Analysis in Fetus With Increased Nuchal Translucency [PDF]

, 2021
Wang Chaohong, Junxiang Tang, Yuxiu Sun, Yu Pang, Keting Tong, Zhu Jiansheng   +5 more
openalex   +1 more source

Mapping protein–protein interactions by mass spectrometry

Mass Spectrometry Reviews, EarlyView.
Abstract Protein–protein interactions (PPIs) are essential for numerous biological activities, including signal transduction, transcription control, and metabolism. They play a pivotal role in the organization and function of the proteome, and their perturbation is associated with various diseases, such as cancer, neurodegeneration, and infectious ...
Xiaonan Liu, Lawrence Abad, Lopamudra Chatterjee, Ileana M. Cristea, Markku Varjosalo   +4 more
wiley   +1 more source

P22.04: Clinical value of chromosomal microarray analysis in prenatally diagnosed transposition of the great arteries [PDF]

, 2017
M. Lee, Hye‐Sung Won, Hyun Mee Ryu
openalex   +1 more source

High Genetic Diagnostic Yield for Patients with Rare Movement Disorders at a Single‐Center Neurogenetics Clinic

Movement Disorders Clinical Practice, EarlyView.
Abstract Background As advanced molecular testing is incorporated into routine clinical practice, accessibility and yield remain limited. Objectives We propose a simplified and effective workup strategy to maximize diagnostic yield based on presented diagnostic yield of rare movement disorders at a tertiary Neurogenetics Clinic.
Dvir Penn, Yam Amir, Gil Ben David, Alina Kurolap, Dalit Barel, Uri Hamiel, Michal Bach, Emil Elhanan, Tali Barkan, Daphna Marom, Adi Mory, Noga Simantov, Gadi Maayan Eshed, Achinoam Faust‐Socher, Vered Livneh, Avner Thaler, Nurit Omer, Tamara Shiner, Nir Giladi, Tanya Gurevich, Hagit Baris Feldman, Roy N. Alcalay, Yuval Yaron, Penina Ponger   +23 more
wiley   +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

Genetic Evaluation of Early Pregnancy Loss by Chromosomal Microarray Analysis: A Retrospective Analysis

Clinical and Experimental Obstetrics & Gynecology
Background: Chromosomal abnormalities constitute the predominant genetic etiology of early pregnancy loss; however, conventional karyotyping analysis fails to detect submicroscopic genomic imbalances or regions of homozygosity (ROH ...
Hu Ding, Honglei Duan, Xiangyu Zhu, Wei Liu, Leilei Gu, Chunxiang Zhou, Jie Li   +6 more
doaj   +1 more source

Prediction of risk of disease recurrence by genome-wide cDNA microarray analysis in patients with Philadelphia chromosome-positive acute lymphoblastic leukemia treated with imatinib-combined chemotherapy

, 2007
Hitoshi Zembutsu, Masamitsu Yanada, Asahi Hishida, Toyomasa Katagiri, Takashi Tsuruo, Isamu Sugiura, Jin Takeuchi, Noriko Usui, Tomoki Naoe, Yusuke Nakamura, Ryuzo Ohno   +10 more
openalex   +2 more sources

A meta-analysis of the diagnostic sensitivity and clinical utility of genome sequencing, exome sequencing and chromosomal microarray in children with suspected genetic diseases [PDF]

, 2018
Michelle M. Clark, Zornitza Stark, Lauge Farnaes, Tiong Yang Tan, Susan M. White, David Dimmock, Stephen F. Kingsmore   +6 more
openalex   +1 more source

eP378: A 9-year, single-institution retrospective study of chromosomal microarray analysis data obtained from products of conception [PDF]

, 2022
Bahareh Mojarad, Mark A. Zaydman, Julie Neidich, Molly C. Schroeder, Yang Cao, Kilannin Krysiak, Ina Amarillo   +6 more
openalex   +1 more source

Identification of actionable targets using DEPArray‐based sorting of pure carcinoma and stromal populations from formalin‐fixed paraffin‐embedded tissues followed by shallow whole‐genome sequencing

The Journal of Pathology, EarlyView.
Abstract Formalin‐fixed paraffin‐embedded (FFPE) tissue specimens represent precious resources for clinical genomic profiling studies, especially when coupled with comprehensive medical records. Even though next‐generation sequencing (NGS) is an effective tool to detect somatic mutations and somatic copy number alterations (sCNA), the biggest ...
Georgios Nteliopoulos, Evie Wren, Amelia Rushton, Marc K Wadsley, Daniel Fernandez‐Garcia, Floriana Manodoro, Otis Agbaimoni, Ritika Chauhan, Zhao Cheng, Darren P Ennis, Karen Page, Rebecca C Allsopp, Joel Bautista, Ignazio Puccio, Nik Matthews, Kelly LT Gleason, Rehman Farah, Laura Kenny, Iain A McNeish, Jacqueline A Shaw, R Charles Coombes   +20 more
wiley   +1 more source