Results 211 to 220 of about 187,376 (271)

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

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

NCI-60 Whole Exome Sequencing and Pharmacological CellMiner Analyses

, 2014
William C. Reinhold, Sudhir Varma, Fabrício G. Sousa, Margot Sunshine, Ogan D. Abaan, Sean Davis, Spencer W. Reinhold, Kurt W. Kohn, Joel Morris, Paul S. Meltzer, James H. Doroshow, Yves Pommier   +11 more
openalex   +2 more sources

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

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

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

Fetal genetic factors in pregnancy loss: Insights from a meta-analysis and effectiveness of whole exome sequencing. [PDF]

PLoS One
Hadjipanteli A, Theodosiou A, Papaevripidou I, Alexandrou A, Salameh N, Evangelidou P, Tomazou M, Mavrides A, Fasouliotis S, Anastasiou G, Stavroulis A, Agathokleous N, Agathokleous M, Tsangarides S, Kallikas I, Kakoullis K, Frakala S, Oxinou C, Marnerides A, Athanasiou E, Ourani S, Anastasiadou VC, Tanteles G, Kousoulidou L, Sismani C.   +24 more
europepmc   +1 more source

Whole-exome sequencing uncovers the genetic basis of hereditary concomitant exotropia in ten Chinese pedigrees. [PDF]

BMC Med Genomics
Duan W, Zhou T, Huang X, He D, Hu M.
europepmc   +1 more source

Whole exome sequencing shows novel COL4A3 and COL4A4 variants as causes of Alport syndrome in Rio Grande do Norte, Brazil. [PDF]

BMC Genomics
de Araújo WC, Falcão RM, Uchoa RAC, Garcia CA, da Silva AQB, Quirino KLM, Freire-Neto FP, Gurgel GP, Nascimento PRP, Ferreira LC, Duggal P, de Souza JES, Jeronimo SMB.   +12 more
europepmc   +1 more source

Characterization of X Chromosome Inactivation Using Integrated Analysis of Whole-Exome and mRNA Sequencing

, 2014
Szabolcs Szelinger, Ivana Malenica, Jason J. Corneveaux, Ashley L. Siniard, Ahmet Kurdoglu, Keri M. Ramsey, Isabelle Schrauwen, Jeffrey M. Trent, Vinodh Narayanan, Matthew J. Huentelman, David W. Craig   +10 more
openalex   +2 more sources