Results 51 to 60 of about 59,286 (281)

Phenotypic findings and pregnancy outcomes of fetal rare autosomal aneuploidies detected using chromosomal microarray analysis

Human Genomics, 2022
Background Aneuploidies are the most common chromosomal abnormality and the main genetic cause of adverse pregnancy outcomes. Since numerous studies have focused on common trisomies, relatively little is known about the association between phenotypic ...
Rong Hu, Weiwei Huang, Weining Zhou, Xiaohui Luo, Congmian Ren, Huajie Huang, Yaping Hou, Li Guo, Wei He, Jian Lu   +9 more
doaj   +1 more source

Effective detection of 148 cases chromosomal mosaicism by karyotyping, chromosomal microarray analysis and QF-PCR in 32,967 prenatal diagnoses. [PDF]

BMC Med Genomics
Background Detection of mosaicism has always been difficult in prenatal diagnosis, which is to assess the value of karyotyping combined with three different molecular genetic tests for prenatal diagnosis. Retrospective review of chromosomal mosaicism (CM)
Deng Y, Zeng L, Wu Z, Wang J, Ye M, Chen C, Wei P, Wang D, Deng G, Zhu S.   +9 more
europepmc   +2 more sources

Development and experimental validation of a 20K Atlantic cod (Gadus morhua) oligonucleotide microarray based on a collection of over 150,000 ESTs [PDF]

, 2010
The collapse of Atlantic cod (Gadus morhua) wild populations strongly impacted the Atlantic cod fishery and led to the development of cod aquaculture. In order to improve aquaculture and broodstock quality, we need to gain knowledge of genes and pathways
Bowman, Sharen, Marlies Rise, Tudor Borza, Ouellette, Rodney J, L\ue9ger, Daniel, Jennifer Kimball, Culf, Adrian, Hori, Tiago S, Kimball, Jennifer, Adrian Culf, Léger, Daniel, Rise, Matthew L, Johnson, Stewart C., Johnson, Stewart C, Belkaid, Anissa, Daniel Léger, Sophie Hubert, Higgins, Brent, Hubert, Sophie, Stewart C. Johnson, Borza, Tudor, Feng, Charles Y, Booman, Marije, Rise, Marlies, Anissa Belkaid, Sharen Bowman, Ian C. Chute, Gamperl, A Kurt, Marije Booman, Rodney J. Ouellette, Hori, Tiago S., Charles Y. Feng, Matthew L. Rise, Gamperl, A. Kurt, Chute, Ian C., A. Kurt Gamperl, Chute, Ian C, Brent Higgins, Feng, Charles Y., Ouellette, Rodney J., Tiago S. Hori, Rise, Matthew L.   +41 more
core   +1 more source

Chromosomal Microarray Analysis for the Prenatal Diagnosis in Fetuses with Nasal Bone Hypoplasia: A Retrospective Cohort Study

Risk Management and Healthcare Policy, 2021
Hailong Huang,1,* Meiying Cai,1,* Wei Ma,1,2 Na Lin,1 Liangpu Xu1 1Fujian Maternity and Child Health Hospital, Affiliated Hospital of Fujian Medical University, Fujian Key Laboratory for Prenatal Diagnosis and Birth Defect, Fuzhou City, Fujian Province ...
Huang H, Cai M, Ma W, Lin N, Xu L
doaj  

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

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

Unraveling the Molecular Mechanisms Underlying Spontaneous Multipolar Mitosis Through CIN‐seq

Advanced Science, EarlyView.
Multipolar mitosis, a hallmark of chromosomal instability (CIN), drives tumor heterogeneity but is challenging to study in live cells. Using CIN‐seq, a single‐cell multiomics method, we profiled rare CIN events and identified mechanisms associated with viable multipolar mitosis, including PTEN attenuation, Rho GTPase‐driven cytokinesis failure, and ...
Pin‐Rui Su, Ting‐Chun Chou, Maria Teresa López‐Cascales, Junfeng Huang, Tsai‐Ying Chen, Sjoukje van Wieren, Chan Li, Cecile Beerens, Li You, Jelle Storteboom, Miao‐Ping Chien   +10 more
wiley   +1 more source

Regional regulation of transcription in the chicken genome

, 2010
Background Over the past years, the relationship between gene transcription and chromosomal location has been studied in a number of different vertebrate genomes. Regional differences in gene expression have been found in several different species.
Bastiaansen John WM, Nie, H., Nie Haisheng, Crooijmans, R.P.M.A., Groenen, M.A.M., Groenen Martien AM, Bastiaansen, J.W.M., Crooijmans Richard PMA, Megens, H.J.W.C., Megens Hendrik-Jan   +9 more
core   +1 more source

ArrayMining: a modular web-application for microarray analysis combining ensemble and consensus methods with cross-study normalization [PDF]

, 2009
Background: Statistical analysis of DNA microarray data provides a valuable diagnostic tool for the investigation of genetic components of diseases.
Krasnogor, N., Glaab Enrico, Jonathan M Garibaldi, Enrico Glaab, Garibaldi, Jonathan M., Garibaldi, Jon, Natalio Krasnogor, Krasnogor Natalio, Garibaldi Jonathan M, Glaab, Enrico, Krasnogor, Natalio   +10 more
core   +1 more source

TSPYL5 Promotes Triple‐Negative Breast Cancer Metastasis by Antagonizing USP10‐Mediated PTEN Stabilization to Unleash a ZEB1‐Dependent EMT Program

Advanced Science, EarlyView.
The hyperactivation of PI3K/AKT signaling in PTEN wild‐type triple‐negative breast cancer represents a clinical paradox. We delineate a novel post‐translational regulatory axis wherein the oncogene TSPYL5 competitively antagonizes the deubiquitinase USP10.
Jiaying Shi, Ming Yi, Shengyu Xie, Zhaokun Wang, Xinyue Zhang, Yangwei Zhang, Rui Tang, Yuan Yang, Yunqiang Liu   +8 more
wiley   +1 more source