Results 131 to 140 of about 59,286 (281)

Identification of chromosomal errors in human preimplantation embryos with oligonucleotide DNA microarray.

, 2013
A previous study comparing the performance of different platforms for DNA microarray found that the oligonucleotide (oligo) microarray platform containing 385K isothermal probes had the best performance when evaluating dosage sensitivity, precision ...
Wei-Hua Wang, Cassie T Wang, Daniel Williams, Lifeng Liang, Lian Liu, Craig Witz, Josh Skorupski, Jimmy Gill, Xiaofang Sun, Man Li, Jason Griffith, Ghassan Haddad   +11 more
core   +1 more source

Data‐Driven Insights into Hyperkinetic Disorders in Neurodevelopmental Syndromes and Epileptic Encephalopathies

Movement Disorders Clinical Practice, EarlyView.
Abstract Background Childhood‐onset hyperkinetic movement disorders occur in a range of genetic conditions. Recently, there has been an increase in recognition of hyperkinetic movement disorders, mainly dystonia, chorea and dyskinesia, with monogenic conditions associated with neurodevelopmental delay (NDD) and also with developmental and epileptic ...
Hugo Morales‐Briceño, Shekeeb S. Mohammad, Rajeshwar Reddy Angiti, Velda Han, Michel Tchan, Russell C. Dale, Victor S.C. Fung   +6 more
wiley   +1 more source

Chromosome microarray analysis: A soothing guide [PDF]

Journal of Paediatrics and Child Health, 2018
openaire   +2 more sources

Identify latent chromosomal aberrations relevant to myelodysplastic syndromes

, 2017
Myelodysplastic syndromes (MDS) are a group of heterogeneous hematologic malignancies. This study aims to identify latent chromosomal abnormalities relevant to MDS, which may optimize the current diagnosis of MDS.
Weihong Yang, Yi Yao, Qibin Song, Shiang Huang, Min Peng, Xiaoqing Li, Yuxin Chu   +6 more
core   +1 more source

KMT5C‐Mediated H4K20me3 Recruits EWSR1 to Propel Clear Cell Renal Cell Carcinoma Progression via Regulating ACADM Transcription and m6A Modification

Med Research, EarlyView.
A schematic diagram illustrating the KMT5C‐H4K20me3‐EWSR1‐ACADM signaling axis and its role in ccRCC progression. Key Outcomes: KMT5C/H4K20me3 are upregulated in ccRCC and predict poor prognosis. EWSR1 is a novel noncanonical H4K20me3 reader in ccRCC. KMT5C/EWSR1 co‐repress ACADM via transcription and m6A modification. A‐196 + sunitinib synergistically
Chengjian Ji, Da Zhong, Tian Rao, Xiaojun Li, Weiyu Kong, Xi Zhang, Xiyi Wei, Bing Yao, Xinqiang Li, Ninghong Song, Chao Qin   +10 more
wiley   +1 more source

Imaging patterns and genetic associations of brain atrophy across distinct symptom stages in Parkinson's disease

Neuroprotection, EarlyView.
Early disease stages showed limited cortical atrophy and enrichment of synaptic and calcium signaling pathways, whereas advanced stages demonstrated widespread cortical degeneration associated with immune activation and extracellular matrix remodeling.
Yi Ji, Liujia Lu, Kaidong Chen, Ruixuan Zhang, Yao Lu, Yachen Shi, Xiangming Fang   +6 more
wiley   +1 more source

Autocorrelation analysis reveals widespread spatial biases in microarray experiments

, 2007
Background DNA microarrays provide the ability to interrogate multiple genes in a single experiment and have revolutionized genomic research. However, the microarray technology suffers from various forms of biases and relatively low reproducibility.
Koren Amnon, Itay Tirosh, Barkai Naama, Amnon Koren, Naama Barkai, Tirosh Itay   +5 more
core   +1 more source

Tumor Invasive Border Index (TIBI) in colorectal cancer: linking infiltrative morphology to molecular insights

The Journal of Pathology, EarlyView.
Abstract Tumor border configuration influences colorectal cancer (CRC) prognosis, yet its molecular determinants remain unclear and existing assessment criteria have faced challenges with reproducibility. We introduce the Tumor Invasive Border Index (TIBI), a novel and reproducible method that quantifies the proportion of tumor stroma and adipose ...
Akseli Kehusmaa, Jouni Härkönen, Huayi Li, Päivi Sirniö, Ville K Äijälä, Henna Karjalainen, Meeri Kastinen, Vilja V Tapiainen, Tuomo Mantere, Vesa‐Matti Pohjanen, Hanna Elomaa, Onni Sirkiä, Nicolas Pasquier, Maarit Ahtiainen, Olli Helminen, Erkki‐Ville Wirta, Taneli T Mattila, Outi Lindgren, Janette Savela, Jukka Rintala, Sanna Meriläinen, Juha Saarnio, Tero Rautio, Toni T Seppälä, Jan Böhm, Jukka‐Pekka Mecklin, Markus J Mäkinen, Anne Tuomisto, Johanna Ivaska, Juha P Väyrynen   +29 more
wiley   +1 more source

Diagnosis and Management of Prenatal Hereditary Pyropoikilocytosis

Prenatal Diagnosis, EarlyView.
ABSTRACT Hereditary pyropoikilocytosis (HPP) is a severe hemolytic anemia caused by variants in SPTA1, SPTB, and EPB41. These weaken horizontal interactions in the erythrocyte cytoskeleton, causing membrane fragmentation and splenic sequestration. It will readily cause fetal anemia and often hydrops fetalis. Prenatal diagnosis requires first ruling out
Connor Hartzell, Samantha Stover, Nora Gibson, Timothy Olson, James Connelly, Matthew Grace, Jennifer Andrews   +6 more
wiley   +1 more source

Clinical Utility of Nuchal Translucency Measurement in First‐Trimester Ultrasound Screening in a Setting With First‐Tier NIPT for Aneuploidy Screening

Prenatal Diagnosis, EarlyView.
ABSTRACT Objective To investigate the additional clinical value of nuchal translucency (NT) measurement at the first‐trimester anomaly scan (FTAS) in a setting with first‐tier non‐invasive prenatal testing (NIPT). Method This nationwide prospective cohort study, part of the IMITAS study on FTAS implementation, included all pregnancies with increased NT
Eline E. R. Lust, Kim Bronsgeest, Lidewij Henneman, Neeltje M. T. H. Crombag, Caterina M. Bilardo, Robert‐Jan H. Galjaard, Esther Sikkel, Audrey B. C. Coumans, Ayten Elvan‐Taşpınar, Sander Galjaard, Attie T. J. I. Go, Gwendolyn T. R. Manten, Eva Pajkrt, Elisabeth van Leeuwen, Monique C. Haak, Mireille N. Bekker   +15 more
wiley   +1 more source