Results 91 to 100 of about 113,215 (275)

A Subset of Pro‐inflammatory CXCL10+ LILRB2+ Macrophages Derives From Recipient Monocytes and Drives Renal Allograft Rejection

Advanced Science, EarlyView.
This study uncovers a recipient‐derived monocyte‐to‐macrophage trajectory that drives inflammation during kidney transplant rejection. Using over 150 000 single‐cell profiles and more than 850 biopsies, the authors identify CXCL10+ macrophages as key predictors of graft loss.
Alexis Varin, Jovanne Palvair, Lennie Messager, Jamal Bamoulid, Jasper Callemeyn, Mélanie Chaintreuil, Ludivine Dal Zuffo, Didier Ducloux, Imane Farhat, Mathieu Legendre, Laurent Martin, Florian Renosi, Xavier Roussel, Thibaut Vaulet, Maarten Naesens, Claire Tinel, Baptiste Lamarthée   +16 more
wiley   +1 more source

Clinical application of chromosomal microarray analysis for fetuses with craniofacial malformations

Molecular Cytogenetics, 2020
Background The potential correlations between chromosomal abnormalities and craniofacial malformations (CFMs) remain a challenge in prenatal diagnosis.
Chenyang Xu, Yanbao Xiang, Xueqin Xu, Lili Zhou, Huanzheng Li, Xueqin Dong, Shaohua Tang   +6 more
doaj   +1 more source

Combining chromosomal arm status and significantly aberrant genomic locations reveals new cancer subtypes [PDF]

, 2008
Many types of tumors exhibit chromosomal losses or gains, as well as local amplifications and deletions. Within any given tumor type, sample specific amplifications and deletionsare also observed.
Domany, Eytan, Hegi, Monika E., Lambiv, Wanyu L., Reiner, Anat, Shay, Tal   +4 more
core   +4 more sources

Mepylome: A Point‐of‐Care Tumor Diagnostic Toolkit for Tumor DNA Methylation and Copy Number Analysis

Advanced Intelligent Systems, EarlyView.
DNA methylation and chromosomal copy number profiling have recently become essential for tumor diagnostics. The open‐source tool Mepylome enables this task in clinical routine. It combines several machine learning strategies and allows users to interactively examine respective data through an intuitive graphical interface. Running up to 65 times faster
Jon Brugger, Claus Hultschig, Daniel Baumhoer, Baptiste Ameline, Benjamin Maciej Freyter, Stephan Frank, Jürgen Hench   +6 more
wiley   +1 more source

Chromosomal abnormalities and copy number variations in fetal ventricular septal defects

Molecular Cytogenetics, 2018
Background This study aimed to evaluate the applicability of chromosomal microarray analysis (CMA), rather than traditional chromosome analysis, in prenatal diagnosis of ventricular septal defects (VSDs) for superior prenatal genetic counseling and to ...
Meiying Cai, Hailong Huang, Linjuan Su, Na Lin, Xiaoqing Wu, Xiaorui Xie, Gang An, Ying Li, Yuan Lin, Liangpu Xu, Hua Cao   +10 more
doaj   +1 more source

Asterias: a parallelized web-based suite for the analysis of expression and aCGH data [PDF]

, 2006
Asterias (\url{http://www.asterias.info}) is an integrated collection of freely-accessible web tools for the analysis of gene expression and aCGH data. Most of the tools use parallel computing (via MPI).
Alibes, Andreu, Canada, Andres, Casado, David, Diaz-Uriarte, Ramon, Morrissey, Edward R., Rueda, Oscar M., Yankilevich, Patricio   +6 more
core   +4 more sources

A Systematic Review and Meta‐Analysis of the Birth Prevalence of Turner Syndrome

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Turner syndrome, a chromosomal disorder, causes short stature, pubertal arrest, amenorrhea, and infertility in females. Prevalence estimates vary widely; however, reliable estimates are important for public health initiatives. Therefore, a meta‐analysis was undertaken.
David Hinds, Jeanne M. Pimenta, Andrea Low, Deepali Mittal, Smeet Gala, Digant Gupta   +5 more
wiley   +1 more source

Chromosomal microarray analysis of 410 Han Chinese patients with autism spectrum disorder or unexplained intellectual disability and developmental delay [PDF]

, 2022
Yi Liu, Yuqiang Lv, Mehdi Zarrei, Rui Dong, Xiaomeng Yang, Edward J. Higginbotham, Yue Li, Dongmei Zhao, Fengling Song, Yali Yang, Haiyan Zhang, Ying Wang, Stephen W. Scherer, Zhongtao Gai   +13 more
openalex   +1 more source

Nance‐Horan Syndrome: Further Delineation of the Affected Male and the Female Carrier Phenotypes

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Nance‐Horan syndrome (NHS; OMIM 302350) is a rare, X‐linked syndrome characterized by bilateral congenital cataracts leading to profound vision loss, specific dental anomalies including characteristic screwdriver blade‐shaped incisors, facial anomalies, and intellectual disability.
Maria K. Haanpää, Chad R. Haldeman‐Englert, Marja Hietala, Melisa S. Tanverdi, Patrick P. Koty, Diana Brightman, Eniolami Dosunmu, Shailja Tibrewal, Savleen Kaur, Anupriya Kaur, Raj Kumar Verma, Alejandra G. de Alba Campomanes, Virginia Utz, Anne M. Slavotinek, Cynthia Curry   +14 more
wiley   +1 more source

Clinical Presentation of the Longest Reported Living Individual With Bent Bone Dysplasia—FGFR2‐Related

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT The FGFR2 gene, encoding the FGFR2 protein, plays a crucial role in embryonic cell development, particularly in bone tissue. Bent Bone Dysplasia (BBD), FGFR2‐related (MIM# 614592), is a rare severe skeletal dysplasia characterized by craniofacial differences, reduced bone mineral density, and bowed long bones.
Cheyenne Bates, Pardeep Gill, Matthew Choi, Frances Mahon, Blake Yarascavitch, Audrey Lim, Resham Ejaz   +6 more
wiley   +1 more source