Results 61 to 70 of about 317,190 (282)

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

Navigating public microarray databases [PDF]

, 2004
With the ever-escalating amount of data being produced by genome-wide microarray studies, it is of increasing importance that these data are captured in public databases so that researchers can use this information to complement and enhance their own ...
Bähler, J, Penkett, CJ
core  

Evaluating microarray-based classifiers: an overview [PDF]

, 2007
For the last eight years, microarray-based class prediction has been the subject of numerous publications in medicine, bioinformatics and statistics journals.
Augustin, Thomas, T. Augustin, A.-L. Boulesteix, Boulesteix, Anne-Laure, M. Daumer, C. Strobl, Daumer, Martin, Strobl, Carolin   +7 more
core   +1 more source

Multi‐regional Organoid Biobank Reveals FAK‐ACSL1‐Driven Doxorubicin‐Resistance and Predictive Biomarkers in Breast Cancer

Advanced Science, EarlyView.
This study established a high‐quality organoid biobank derived from 68 tumor sites across 50 Chinese patients, elucidated the drug sensitivity‐based molecular subtyping in breast cancer, and revealed a novel mechanism of drug resistance mediated by the FAK‐ACSL1 pathway.
Hao Xu, Zhijun Qin, Jiapeng Yang, Baoyuan Zhang, Manqing Cao, Peng Wang, Zaiqi Wang, Jinghui Cheng, Lei Wang, Hong Liu, Hui Yang   +10 more
wiley   +1 more source

Standardized development of microarray technology via substrate-independent surface coatings [PDF]

, 2009
While microarray technology has provided a versatile and high-throughput analytical tool for many research purposes, poor cross-platform assay dataset correlation has prevented the technology from finding common usage for real-world applications due to ...
Spillman, Scott D.
core   +1 more source

De novo chromosome 7q36.1q36.2 triplication in a child with developmental delay, growth failure, distinctive facial features, and multiple congenital anomalies: a case report

BMC Medical Genetics, 2017
Background Studying human genome using chromosomal microarrays has significantly improved the accuracy and yield of diagnosing genomic disorders. Chromosome 7q36 deletions and duplications are rare genomic disorders that have been reported in a limited ...
Muna A. Al Dhaibani, Diane Allingham-Hawkins, Ayman W. El-Hattab   +2 more
doaj   +1 more source

Prenatal diagnosis and molecular cytogenetic characterization of two hereditary chromosomal duplications with favorable outcomes

Clinical and Experimental Obstetrics & Gynecology, 2020
The objective of this study was to report two cases of hereditary chromosomal duplications with favorable outcomes. In both cases, conventional karyotyping showed a normal karyotype.
Y.J. Wu, C.J. Yu, W.H. Tian, Z. Xu
doaj   +1 more source

Genetic Ablation and Multi‐Omics Profiling Reveal CEP55 as a Key Driver of Tumorigenesis in Diverse Cancer Models

Advanced Science, EarlyView.
Genetic ablation of Cep55 in Pten‐deficient mouse models delays tumorigenesis. Integrated multi‐omics analyses (proteomics, phosphoproteomics, and spatial transcriptomics) reveal that CEP55 regulates oncogenic signaling (RAS/ERK, PI3K/AKT), integrin/FAK‐mediated adhesion, extracellular matrix (ECM) remodeling, and endocytosis.
Behnam Rashidieh, Yuanhao Yang, Amanda Louise Bain, Phillip Theron, Catharina Vosloo, Sahar Keshvari, Parinaz Ahangar, Brydie Bowden, Simon M. Tria, Ben B. Wang, Sandra Isenmann, Nicholas J. Westra van Holthe, Zherui Xiong, Hani Vu, Sowmya Sharma, Asmerom Sengal, J. Alejandro Lopez, John Finnie, Antonella Papa, Pascal H.G. Duijf, Quan Nguyen, Pirjo M. Apaja, Kum Kum Khanna   +22 more
wiley   +1 more source

17q23.2q23.3 de novo duplication in association with speech and language disorder, learning difficulties, incoordination, motor skill impairment, and behavioral disturbances: a case report

BMC Medical Genetics, 2017
Background Chromosomal rearrangements involving 17q23 have been described rarely. Deletions at 17q23.1q23.2 have been reported in individuals with developmental delay and growth retardation, whereas duplications at 17q23.1q23.2 appear to segregate with ...
Karen Wessel, Jehan Suleiman, Tamam E. Khalaf, Shivendra Kishore, Arndt Rolfs, Ayman W. El-Hattab   +5 more
doaj   +1 more source

Chromosomal Microarray Testing in NEC: A Case Report [PDF]

Journal of Neonatal Surgery, 2016
Necrotizing enterocolitis (NEC) remains the most common reason for emergent surgery in the neonatal intensive care unit. The common pathophysiology in all NEC involves alteration in gut microflora, abnormal blood supply to the intestine, and uncontrolled cytokine release. We report a full-term neonate who developed NEC.
Burjonrappa, Sathyaprasad C, Schwartzberg, David   +1 more
openaire   +2 more sources