Results 261 to 270 of about 157,645 (329)

'No causative variants found': an unusual presentation of PAX2-related disorder not detected on rapid whole exome sequencing testing. [PDF]

BMJ Case Rep
Wells PA, Basu AP, Yates LM.
europepmc   +1 more source

Molecular subtyping and precision therapy for esophageal cancer

Interdisciplinary Medicine, EarlyView.
The molecular typing of esophageal cancer based on genome, transcriptome, proteome, and multi‐omics revealed various molecular features and provided potential targets for the precision therapy. Recent trials have shown that immunotherapy or molecular targeted therapy plus chemoradiotherapy can improve overall survival and progression‐free survival in ...
Guangkun Pei, Zhuoran Liang, Bianli Gu, Linlin Shi, Ze‐Xian Liu, Shegan Gao   +5 more
wiley   +1 more source

Genetic subtyping by Whole Exome Sequencing across Diffuse Large B Cell Lymphoma and Plasmablastic Lymphoma. [PDF]

PLoS One
Pomares AA, Merino LR, González S, Morata J, Tonda R, Arribas P, Revert J, Carrillo E, Grande C, Roncero JM, de Oteyza JP, Nicolás C, Gutierrez N, Abrisqueta P, Gutiérrez A, Ramírez-Páyer Á, Garcia-Sancho AM, González-Barca E, Montes-Moreno S, GELTAMO group (Grupo Español de Linfomas y Trasplante Autólogo de Medula Osea), Spain.   +20 more
europepmc   +1 more source

Whole Exome Sequencing in Prenatal Diagnostics [PDF]

, 2018
Becher, Naja, Miltoft, Caroline Borregaard, Pedersen, Lars Henning, Vogel, Ida, Petersen, Olav Bjørn   +4 more
openaire   +1 more source

Chromosomal Microarray Analysis and Karyotype Analysis for Prenatal Diagnosis of Fetuses With Abnormal Ultrasound Soft Markers

Journal of Clinical Laboratory Analysis, EarlyView.
Genetic detection of fetal specimens obtained by ultrasound‐guided puncture was carried out using karyotype analysis and chromosomal microarray analysis (CMA) in this study, and the detection rates of chromosomal abnormalities in different ultrasonic abnormalities were analyzed.
Lina Liu, Lingna She, Zhiyuan Zheng, Shuxian Huang, Heming Wu   +4 more
wiley   +1 more source

Whole-exome sequencing assists in the diagnosis of hyperimmunoglobulin E syndrome: Insights into dual genetic abnormalities. [PDF]

Heliyon
Li SY, Cao W, Ge Y, Lvy W, Liu YP, Qin L.   +5 more
europepmc   +1 more source

Prenatal Diagnosis and Prognostic Factors in Fetuses With Arthrogryposis Multiplex Congenita—A Systematic Review

Journal of Clinical Ultrasound, EarlyView.
Arthrogryposis Multiplex Congenita (AMC) is characterized by the presence of multiple joint contractures in the fetus' body. The diagnosis of arthrogryposis is complex and often missed prenatally. This comprehensive review of the literature published over the last 20 years, with an emphasis on the role of prenatal ultrasound in predicting postnatal ...
Mario Brock Leao, Marianna Facchinetti Brock, Jorge Roberto Di Tommaso Leao, Gianpaolo Grisolia, Mario Lituania, Samantha Erin Neumann, Gabriele Tonni, Rodrigo Ruano   +7 more
wiley   +1 more source

Whole-Exome Sequencing Identifies Novel GATA5/6 Variants in Right-Sided Congenital Heart Defects. [PDF]

Int J Mol Sci
Zodanu GKE, Hwang JH, Mudery J, Sisniega C, Kang X, Wang LK, Barsegian A, Biniwale RM, Si MS, Halnon NJ, Ucla Congenital Heart Defects-BioCore Faculty, Grody WW, Satou GM, Van Arsdell GS, Nelson SF, Touma M.   +15 more
europepmc   +1 more source

Identification of rare variants in Alzheimer\u27s disease [PDF]

, 2014
Cruchaga, Carlos, Lord, Jenny, Lu, Alexander J   +2 more
core   +1 more source

A case of familial partial lipodystrophy type 2 masquerading as Cushing syndrome: Explaining an atypical phenotype by whole-exome sequencing. [PDF]

Arch Endocrinol Metab
Perez-Dionisio E, Hinojosa-Alvarez S, Chavez-Santoscoy RA, Miguel-Ibañez R, Garcia-Saenz M, Marrero-Rodriguez D, Taniguchi-Ponciano K, Henandez-Perez J, Mercado M, Ramirez-Renteria C, Sosa-Eroza E, Espinosa-Cardenas E.   +11 more
europepmc   +1 more source