Results 171 to 180 of about 102,585 (258)

Whole-exome sequencing increases variant detection compared to karyotyping and CMA in an unselected FGR cohort. [PDF]

Sci Rep
Liu J, Lin K, Mai Z, Zhang Y, Li X, Meng X, Chen H.   +6 more
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

Genomic characterization of pulmonary sarcomatoid adenocarcinoma: a paired whole-exome sequencing study of carcinomatous and sarcomatous components. [PDF]

Front Oncol
Lin J, Yang Y, Liu M, Yang F, Jiang S, Xu L, Zheng X, Wei H, Wen X, Xu G, Weng R, Zheng J, Xiao S.   +12 more
europepmc   +1 more source

Correction: Genetic variations associated with immediate hypersensitivity reactions to iodinated contrast media: A whole exome sequencing study. [PDF]

PLoS One
PLOS One Staff.
europepmc   +1 more source

FXTAS and the Spectrum of FMR1 Premutation‐Associated Phenotypes in Latin America: A Scoping Review

Movement Disorders Clinical Practice, EarlyView.
Abstract Background Fragile X–associated tremor/ataxia syndrome (FXTAS) is a late‐onset neurodegenerative disorder caused by FMR1 premutation expansions (55–200 CGG repeats). Although well described in populations of predominantly European ancestry, FXTAS remains poorly characterized in Latin America due to limited awareness, restricted access to ...
Amy Schmidmajer, Salomón Páez‐García, Santiago Martínez, Jacobo Ramírez‐Triana, Kevin O'Hara‐Veintimilla, Andrés Ricaurte‐Fajardo, Catalina Cerquera‐Cleves   +6 more
wiley   +1 more source

Unmasking rare thalassemia variants through whole-exome sequencing in Huadu District, China: An observational study. [PDF]

Medicine (Baltimore)
Guowei R, Yan J, Jingxia X, Changlv J, Lihua Z, Bizhen Y, Jingnan B, Cuijin T, Yulan H, HaoHao L, Linhua J.   +10 more
europepmc   +1 more source

Functional network analysis in hepatolithiasis: identifying novel therapeutic targets through whole-exome sequencing. [PDF]

PeerJ
Tang D, Gu X, Liu D, Yang J, Zhao L.
europepmc   +1 more source

Targeted analysis of whole exome sequencing in Thai patients with neonatal diabetes. [PDF]

Hum Genet
Plengvidhya N, Tangjarusritaratorn T, Teerawattanapong N, Narkdontri T, Innang S, Songlilitchuwong S, Suthon S, Tangjittipokin W.   +7 more
europepmc   +1 more source