Results 121 to 130 of about 59,286 (281)

HCT116 MCM10 RNF4 Chromosomal Microarray Analysis

For CNV analyses, cells were submitted to the UMGC for DNA extraction and chromosomal microarray analysis (CMA). Microarrays were carried out in HCT116 WT, MCM10+/- Clone 8, RNF4-/- Clone 3, MCM10+/-:RNF4-/- Clone 8-4, and MCM10+/-:RNF4-/- 8-4 ...
Baxley, R (via Mendeley Data)
core   +1 more source

The regulation of stem cell fate and its application in neural regeneration

Interdisciplinary Medicine, EarlyView.
Regulating stem cell fate is crucial for neural regeneration. This review summarizes key physical, biological, and chemical strategies and their applications in repairing nerve injuries, providing new insights for regenerative medicine. Abstract Regulating the fate of stem cells (SCs) is a key technical problem in the field of regenerative medicine and
Yuexin He, Xingyu Chen, Minghong He, Zhe Li   +3 more
wiley   +1 more source

Clinical profile and cytogenetics of siblings with Jacobsen syndrome

Journal of Current Research in Scientific Medicine
The clinical care of patients has greatly benefited from the advancement of genetic testing. Over time, a gradual move toward a “genotype-first” strategy and growing use of genome-wide testing techniques such as chromosomal microarray analysis and next ...
Abinaya Gunalan, Priya Jose, Allen David, Peter Prasanth Kumar Kommu   +3 more
doaj   +1 more source

Resolving a Complex Neonatal Phenotype by Rapid Trio Whole‐Genome Sequencing: A De Novo 11q14.3–q22.3 Deletion and a Splicing‐Altering Synonymous ANK1 Variant

Journal of Clinical Laboratory Analysis, EarlyView.
Clinical utility of trio WGS and time metrics in a neonate with congenital anomalies and hemolytic anemia. ABSTRACT Background Neonates with complex and evolving phenotypes often lack sufficiently specific clinical features to guide targeted genetic testing.
Hyun‐Woo Lee, Ja‐Hyun Jang, Beom Hee Lee, Hee‐Jeong Youk, Eun Sun Kim, Kee Hyun Cho, Yun Sil Chang, Heui Seung Jo, Mi‐Ae Jang   +8 more
wiley   +1 more source

MACAT—microarray chromosome analysis tool

, 2005
By linking differential gene expression to the chromosomal localization of genes, one can investigate microarray data for characteristic patterns of expression phenomena involving sizeable parts of specific chromosomes. We have implemented a statistical approach for identifying significantly differentially expressed chromosome regions.
Toedling, J., Schmeier, S., Heinig, M., Georgi, B., Roepcke, S.   +4 more
openaire   +1 more source

Feasibility of Imaging the Uvula at the Midtrimester Anomaly Ultrasound

Journal of Ultrasound in Medicine, EarlyView.
Objectives The fetal palate is not routinely imaged as part of the midtrimester fetal anomaly ultrasound, despite being associated with many syndromes. The “equal sign” depicts the lateral borders of the uvula on 2‐dimensional fetal ultrasound. We assessed the feasibility of adding the equal sign to the midtrimester fetal anomaly ultrasound.
Anna Rose Sims, Lou Pistorius, Denise Sproul, Catherine Anne Cluver   +3 more
wiley   +1 more source

Data‐Independent Acquisition Mass Spectrometry in Tumor Classification and Cancer Biomarker Research

Mass Spectrometry Reviews, EarlyView.
Abstract Cancer treatment is far from optimal also because current classification systems do not reflect the complex molecular status of the tumor and its phenotype in sufficient detail. To construct molecular tumor classifiers, omics tools provide complex molecular data reflecting many aspects from genotype to phenotype.
Jan Simonik, Petr Lapcik, Pavla Bouchalova, Pavel Bouchal   +3 more
wiley   +1 more source

sigReannot:an oligo-set re-annotation pipeline based on similarities with the Ensembl transcripts and Unigene clusters

, 2009
Microarray is a powerful technology enabling to monitor tens of thousands of genes in a single experiment. Most microarrays are now using oligo-sets. The design of the oligo-nucleotides is time consuming and error prone. Genome wide microarray oligo-sets
Casel, Pierrot, François Moreews, Klopp, Christophe, Lagarrigue, Sandrine, Moreews, François, Pierrot Casel, Pierrot, Casel, Sandrine Lagarrigue, Christophe Klopp   +8 more
core   +1 more source

Clinical features and genetic analysis of a family with t(5;9) (p15;p24) balanced translocation leading to Cri-du-chat syndrome in offspring

Frontiers in Genetics
BackgroundBalanced translocations are common chromosomal structural abnormalities that usually do not involve a gain or loss of genetic material; and carriers usually display normal phenotypes and intelligence.
Jing Zhao, Ping Chen, Yijia Ren, Shurong Li, Weiyi Zhang, Yan Li, Fengyu Wang   +6 more
doaj   +1 more source

Clinical utility of chromosomal microarray analysis in invasive prenatal diagnosis

Novel methodologies for detection of chromosomal abnormalities have been made available in the recent years but their clinical utility in prenatal settings is still unknown.
García Pérez, Lidia, Mansilla, Elena, Nevado, Julián, Armengol i Dulcet, Lluís, Serra Juhé, Clara, 1984-, García Aragonés, Manel, Lapunzina, Pablo Daniel, Mediano, Carmen, Pérez Jurado, Luis Alberto, Villa Marcos, Olaya, Mori, María Ángeles, García Santiago, Fe Amalia, Fernández, Luis, Preciado, Cristina   +13 more
core