نتایج جستجو برای: array cgh

تعداد نتایج: 134291  

Journal: :Fertility and sterility 2014
Francesco Fiorentino Anil Biricik Sara Bono Letizia Spizzichino Ettore Cotroneo Giuliano Cottone Felix Kokocinski Claude-Edouard Michel

OBJECTIVE To validate a next-generation sequencing (NGS)-based method for 24-chromosome aneuploidy screening and to investigate its applicability to preimplantation genetic screening (PGS). DESIGN Retrospective blinded study. SETTING Reference laboratory. PATIENT(S) Karyotypically defined chromosomally abnormal single cells and whole-genome amplification (WGA) products, previously analyze...

Journal: :American journal of medical genetics. Part A 2006
Eva Klopocki Britta Fiebig Peter Robinson Holger Tönnies Fikret Erdogan Hans-Hilger Ropers Stefan Mundlos Reinhard Ullmann

We report on a girl with delayed mental and motor development, ophthalmological abnormalities, and peripheral neuropathy. Chromosome analysis suggested a deletion within chromosome 8p. Further investigation by array-based comparative genomic hybridization (array-CGH) delineated an 8 Mb interstitial deletion on the short arm of chromosome 8. The breakpoints are located at chromosome bands 8p12 a...

Journal: :Proceedings. AMIA Symposium 2002
Constantin F. Aliferis Douglas P. Hardin Pierre P. Massion

Array CGH is a recently introduced technology that measures changes in the gene copy number of hundreds of genes in a single experiment. The primary goal of this study was to develop machine learning models that classify non-small Lung Cancers according to histopathology types and to compare several machine learning methods in this learning task. DNA from tumors of 37 patients (21 squamous carc...

2009
Winfried A. Hofmann Anja Weigmann Marcel Tauscher Britta Skawran Tim Focken Reena Buurman Luzie U. Wingen Brigitte Schlegelberger Doris Steinemann

BACKGROUND Array-based comparative genomic hybridization (array-CGH) is an emerging high-resolution and high-throughput molecular genetic technique that allows genome-wide screening for chromosome alterations. DNA copy number alterations (CNAs) are a hallmark of somatic mutations in tumor genomes and congenital abnormalities that lead to diseases such as mental retardation. However, accurate id...

2010
Bradley P. Coe Raj Chari Calum MacAulay Wan L. Lam

The availability of high resolution array comparative genomic hybridization (CGH) platforms has led to increasing complexities in data analysis. Specifically, defining contiguous regions of alterations or segmentation can be computationally intensive and popular algorithms can take hours to days for the processing of arrays comprised of hundreds of thousands to millions of elements. Additionall...

2017
Shukun Chen Amin El-Heliebi Gerlinde Tauber Tanja Langsenlehner Michaela Pötscher Karl Kashofer Zbigniew T. Czyż Bernhard Polzer Sabine Riethdorf Andra Kuske Gerd Leitinger Klaus Pantel Thomas Kroneis Peter Sedlmayr

Enumeration and especially molecular characterization of circulating tumour cells (CTCs) holds great promise for cancer management. We tested a modified type of an in vivo enrichment device (Catch&Release) for its ability to bind and detach cancer cells for the purpose of single-cell molecular downstream analysis in vitro. The evaluation showed that single-cell analysis using array comparative ...

Bazrgar M, Borjian Boroujeni P, Borna S Gourabi H Karimpour-fard A Movaghar B Rezazadeh Valojerdi M Vermeesch JR Voet T Zamani Esteki M,

Background: Origin of midlife copy number variations (CNVs) between tissues in non-genetic diseases is unknown. Such genomic differences caused by post-zygotic events. They might either happen during the life or due to prevalent mosaicism in preimplantation stage. We aim to explore fetal mosaicism and its origins. Materials and Methods: Two apparently normal fetuses were achieved following the ...

Journal: :Journal of medical genetics 2007
M De Gregori R Ciccone P Magini T Pramparo S Gimelli J Messa F Novara A Vetro E Rossi P Maraschio M C Bonaglia C Anichini G B Ferrero M Silengo E Fazzi A Zatterale R Fischetto C Previderé S Belli A Turci G Calabrese F Bernardi E Meneghelli M Riegel M Rocchi S Guerneri F Lalatta L Zelante C Romano M Fichera T Mattina G Arrigo M Zollino S Giglio F Lonardo A Bonfante A Ferlini F Cifuentes H Van Esch L Backx A Schinzel J R Vermeesch O Zuffardi

Using array comparative genome hybridisation (CGH) 41 de novo reciprocal translocations and 18 de novo complex chromosome rearrangements (CCRs) were screened. All cases had been interpreted as "balanced" by conventional cytogenetics. In all, 27 cases of reciprocal translocations were detected in patients with an abnormal phenotype, and after array CGH analysis, 11 were found to be unbalanced. T...

2011
Suk Min Seo Yoon Seok Koh Hae Ok Jung Jin Soo Choi Pum Joon Kim Sang Hong Baek Ho-Joong Youn Kweon-Haeng Lee Ki-Bae Seung

BACKGROUND AND OBJECTIVES Vasospastic angina (VA) is a specific type of coronary artery disease and develops as a result of coronary artery spasm. Recently, a few studies have revealed that VA caused by coronary artery spasm is related to genetic traits. The objective of this study was to use the recently developed technique of array comparative genomic hybridization (CGH) to screen the genetic...

Journal: :International journal of oncology 2002
Angela Bik-Yu Hui Kwok-Wai Lo Peter M L Teo Ka-Fai To Dolly P Huang

We have applied the method of genomic microarray to investigate amplification of oncogenes throughout the genome of nasopharyngeal carcinoma (NPC). Array based comparative genomic hybridization (array CGH) allows simultaneous examination of 58 oncogenes commonly amplified in various human cancers. In the present study, we have examined 15 NPC samples including five cell lines, two xenografts an...

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