Results 51 to 60 of about 113,215 (275)

Prenatal diagnosis of Williams-Beuren syndrome by ultrasound and chromosomal microarray analysis

Molecular Cytogenetics, 2022
Background There are a few literature reports of prenatal ultrasound manifestations of Williams-Beuren syndrome. We aimed to explore the prenatal diagnosis of Williams-Beuren syndrome by ultrasound and chromosomal microarray analysis and describe the ...
Ruibin Huang, Hang Zhou, Fang Fu, Ru Li, Tingying Lei, Yingsi Li, Ken Cheng, You Wang, Xin Yang, Lushan Li, Xiangyi Jing, Yongling Zhang, Fucheng Li, Dongzhi Li, Can Liao   +14 more
doaj   +1 more source

Gain of 20q11.21 in human pluripotent stem cells impairs TGF-β-dependent neuroectodermal commitment [PDF]

, 2019
Gain of 20q11.21 is one of the most common recurrent genomic aberrations in human pluripotent stem cells. Although it is known that overexpression of the antiapoptotic gene Bcl-xL confers a survival advantage to the abnormal cells, their differentiation ...
De Deckersberg, E. Couvreu, De Kock, J., Dziedzicka, D., Franceschini, L., Geens, M., Keller, A., Markouli, C., Nguyen, H. T., Regin, M., Sermon, K., Spits, C., Tilleman, Laurentijn, Van Nieuwerburgh, Filip, Zambelli, F.   +13 more
core   +1 more source

RaMBat: Accurate identification of medulloblastoma subtypes from diverse data sources with severe batch effects

Molecular Oncology, EarlyView.
To integrate multiple transcriptomics data with severe batch effects for identifying MB subtypes, we developed a novel and accurate computational method named RaMBat, which leveraged subtype‐specific gene expression ranking information instead of absolute gene expression levels to address batch effects of diverse data sources.
Mengtao Sun, Jieqiong Wang, Shibiao Wan
wiley   +1 more source

Mosaic Tetrasomy of 9p24.3q21.11 postnatally identified in an infant born with multiple congenital malformations: a case report

BMC Pediatrics, 2018
Background Supernumerary Marker Chromosomes consist in structurally abnormal chromosomes, considered as an extra chromosome in which around 70% occur as a de novo event and about 30% of the cases are mosaic. Tetrasomy 9p is a rare chromosomal abnormality
Irene Plaza Pinto, Lysa Bernardes Minasi, Raphael Steckelberg, Claudio Carlos da Silva, Aparecido Divino da Cruz   +4 more
doaj   +1 more source

Low expression of chloride channel accessory 1 predicts a poor prognosis in colorectal cancer [PDF]

, 2015
© 2014 The Authors. Cancer published by Wiley Periodicals, Inc. on behalf of American Cancer Society. Funded by Friends of ANCHOR NHS Grampian Endowment Fund.
Cao, Lin, Chan, Wanhei, Heys, Steven D, Liu, Jiaen, McCaig, Colin D, Milne, Gillian, Pu, Jin, Xu, Yanjie, Yang, Bo   +8 more
core   +1 more source

FGFR Like1 drives esophageal cancer progression via EMT, PI3K/Akt, and notch signalling: insights from clinical data and next‐generation sequencing analysis

FEBS Open Bio, EarlyView.
Clinical analysis reveals significant dysregulation of FGFRL1 in esophageal cancer (EC) patients. RNAi‐coupled next‐generation sequencing (NGS) and in vitro study reveal FGFRL1‐mediated EC progression via EMT, PI3K/Akt, and Notch pathways. Functional assays confirm its role in tumor growth, migration, and invasion.
Aprajita Srivastava, Anoop Saraya, Deepak Gunjan, Rinu Sharma   +3 more
wiley   +1 more source

The application of chromosomal microarray analysis to the prenatal diagnosis of isolated mild ventriculomegaly

Taiwanese Journal of Obstetrics & Gynecology, 2019
Objective: To investigate the clinical value of chromosomal microarray analysis (CMA) in the prenatal diagnosis of genetic abnormalities in fetal isolated mild ventriculomegaly.
Hong-Lei Duan, Xiang-Yu Zhu, Yu-Jie Zhu, Xing Wu, Guang-Feng Zhao, Wan-Jun Wang, Jie Li   +6 more
doaj   +1 more source

Detection of chromosomal regions showing differential gene expression in human skeletal muscle and in alveolar rhabdomyosarcoma [PDF]

, 2004
BACKGROUND: Rhabdomyosarcoma is a relatively common tumour of the soft tissue, probably due to regulatory disruption of growth and differentiation of skeletal muscle stem cells.
Bisognin, Andrea, Bortoluzzi, Stefania, Danieli, Gian Antonio   +2 more
core   +2 more sources

Copy Number Variants and Their Association With Intracerebral Hemorrhage Risk: A Case–Control Study

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Introduction Intracerebral Hemorrhage (ICH) is a leading cause of morbidity and mortality worldwide and lacks effective therapeutic interventions. Despite previous studies, the genetic underpinnings of ICH remain poorly understood. We sought to investigate the role of copy number variants (CNVs) in ICH pathophysiology to identify novel ...
Savvina Prapiadou, Carl D. Langefeld, Padmini Sekar, Mary Comeau, Timothy Howard, Tamara N. Kimball, Chen Bowang, Hyacinth I. Hyacinth, Jonathan Rosand, Christopher D. Anderson, Caspar Grond‐Ginsbach, Daniel Woo, Stacie L. Demel   +12 more
wiley   +1 more source

Methylmalonic acidemia in prenatal diagnosis

Clinical and Experimental Obstetrics & Gynecology, 2020
Objective: The objective of this study was to report the prenatal diagnosis for methylmalonic acidemia. Materials and Methods: Isolated methylmalonic acidemia was diagnosed by analyzing organic acids in the blood and urine.
B.F. Zhou, C.X. Duan, D.L. Tang
doaj   +1 more source