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https://www.readbyqxmd.com/read/28543636/loss-of-retinoblastoma-in-pleomorphic-fibroma-an-immunohistochemical-and-genomic-analysis
#1
Brian Hinds, Alfredo Agulló, Philip E LeBoit, Timothy H McCalmont, Jeffrey P North
BACKGROUND: Pleomorphic fibroma is a curious neoplasm that exhibits striking cytologic atypia, yet behaves in benign fashion. The cytologic features including single cells with pleomorphic nuclei and scattered giant cells resemble the neoplastic cells of pleomorphic lipoma, a tumor with known retinoblastoma (Rb) loss. METHODS: We assessed the demographic and histopathologic features of a cohort of 26 pleomorphic fibromas, including assessment with immunostaining for Rb, p16, and Ki-67...
May 23, 2017: Journal of Cutaneous Pathology
https://www.readbyqxmd.com/read/28537237/-comparative-results-of-preimplantation-genetic-screening-by-array-comparative-genomic-hybridization-and-new-generation-sequencing
#2
N V Aleksandrova, E S Shubina, A N Ekimov, T A Kodyleva, I S Mukosey, N P Makarova, E V Kulakova, L A Levkov, I Yu Barkov, D Yu Trofimov, G T Sukhikh
Aneuploidies as quantitative chromosome abnormalities are a main cause of failed development of morphologically normal embryos, implantation failures, and early reproductive losses. Preimplantation genetic screening (PGS) allows a preselection of embryos with a normal karyotype, thus increasing the implantation rate and reducing the frequency of early pregnancy loss after IVF. Modern PGS technologies are based on a genome-wide analysis of the embryo. The first pilot study in Russia was performed to assess the possibility of using semiconductor new-generation sequencing (NGS) as a PGS method...
March 2017: Molekuliarnaia Biologiia
https://www.readbyqxmd.com/read/28531350/embedded-metal-electrode-for-organic-inorganic-hybrid-nanowire-solar-cells
#3
Han-Don Um, Deokjae Choi, Ahreum Choi, Ji Hoon Seo, Kwanyong Seo
We demonstrate here an embedded metal electrode for highly efficient organic-inorganic hybrid nanowire solar cells. The electrode proposed here is an effective alternative to the conventional bus and finger electrode which leads to a localized short circuit at a direct Si/metal contact and has a poor collection efficiency due to a nonoptimized electrode design. In our design, an Ag/SiO2 electrode is embedded into a Si substrate while being positioned between Si nanowire (SiNW) arrays underneath poly(3,4-ethylenedioxythiophene):poly(styrenesulfonate) (PEDOT:PSS), facilitating suppressed recombination at the Si/Ag interface and notable improvements in the fabrication reproducibility...
May 22, 2017: ACS Nano
https://www.readbyqxmd.com/read/28527622/genome-wide-copy-number-analysis-reveals-candidate-gene-loci-that-confer-susceptibility-to-high-grade-prostate-cancer
#4
Prevathe Poniah, Shamsul Mohd Zain, Azad Hassan Abdul Razack, Shanggar Kuppusamy, Shankar Karuppayah, Hooi Sian Eng, Zahurin Mohamed
BACKGROUND: Two key issues in prostate cancer (PCa) that demand attention currently are the need for a more precise and minimally invasive screening test owing to the inaccuracy of prostate-specific antigen and differential diagnosis to distinguish advanced vs. indolent cancers. This continues to pose a tremendous challenge in diagnosis and prognosis of PCa and could potentially lead to overdiagnosis and overtreatment complications. Copy number variations (CNVs) in the human genome have been linked to various carcinomas including PCa...
May 17, 2017: Urologic Oncology
https://www.readbyqxmd.com/read/28515796/genetic-heterogeneity-of-patients-with-suspected-silver-russell-syndrome-genome-wide-copy-number-analysis-in-82-patients-without-imprinting-defects
#5
Takanobu Inoue, Akie Nakamura, Tomoko Fuke, Kazuki Yamazawa, Shinichiro Sano, Keiko Matsubara, Seiji Mizuno, Yoshika Matsukura, Chie Harashima, Tatsuji Hasegawa, Hisakazu Nakajima, Kumi Tsumura, Zenro Kizaki, Akira Oka, Tsutomu Ogata, Maki Fukami, Masayo Kagami
BACKGROUND: Silver-Russell syndrome (SRS) is a rare congenital disorder characterized by pre- and postnatal growth failure and dysmorphic features. Recently, pathogenic copy number variations (PCNVs) and imprinting defects other than hypomethylation of the H19-differentially methylated region (DMR) and maternal uniparental disomy chromosome 7 have been reported in patients with the SRS phenotype. This study aimed to clarify the frequency and clinical features of patients with SRS phenotype caused by PCNVs...
2017: Clinical Epigenetics
https://www.readbyqxmd.com/read/28506334/-mecp2-duplication-syndrome-a-clinical-analysis-of-three-cases-and-literature-review
#6
Dan-Xia Tang, Dong-Fang Li, Ruo-Hao Wu, Li-Na Zhang, Xiang-Yang Luo
MECP2 duplication syndrome (MDS) is a rare pediatric disease and mainly manifests as delayed motor development, language loss or delay, recurrent infection, severe intellectual disability, epilepsy, autistic symptoms, and early infantile hypotonia. In this article, the three children with this disease were all boys. Cases 1 and 2 had delayed motor development, and language loss or delay as initial manifestations, and case 3 had recurrent infection as initial manifestation. Physical examination showed hypotonia and negative pathological signs in each case...
May 2017: Zhongguo Dang Dai Er Ke za Zhi, Chinese Journal of Contemporary Pediatrics
https://www.readbyqxmd.com/read/28498391/hypospadias-in-a-male-infant-with-an-unusual-mosaic-45-x-46-x-psu-idic-y-p11-32-46-xy-and-haploinsufficiency-of-shox-a-case-report
#7
Yan-Mei Si, Yuan Dong, Wei Wang, Ke-Yan Qi, Xin Wang
A male newborn presented with hypospadias and differential testicular volumes. Short femur length was detected four times during pregnancy, at 23, 31, 32 and 33 weeks, by ultrasonographic examination. Chromosome analysis was performed on peripheral lymphocytes obtained from the infant and his parents. Fluorescent in situ hybridization (FISH), using sex determining region Y (SRY)/DXZ1 and DYZ3 probes, was performed to verify the deletion of the SRY gene (located on Yp11.3 region) and the activation of Y chromosomal centromeres...
May 10, 2017: Molecular Medicine Reports
https://www.readbyqxmd.com/read/28497410/could-monopronucleated-icsi-zygotes-be-considered-for-transfer-analysis-through-time-lapse-monitoring-and-pgs
#8
S Mateo, F Vidal, M Parriego, I Rodríguez, V Montalvo, A Veiga, M Boada
PURPOSE: The purpose of this study was to investigate the chromosomal constitution and the developmental potential of intracytoplasmic sperm injection (ICSI) deriving embryos displaying a single pronucleus at the zygote stage. METHODS: Eighty-eight embryos from single pronucleus (1PN) two polar bodies (2PB) ICSI zygotes from 64 preimplantational genetic screening (PGS) cycles (October 2012-December 2014), were retrospectively analyzed. Zygotes were cultured in a time-lapse incubator...
May 11, 2017: Journal of Assisted Reproduction and Genetics
https://www.readbyqxmd.com/read/28496995/genomic-microarray-in-intellectual-disability-the-usefulness-of-existing-systems-in-the-interpretation-of-copy-number-variation
#9
Hela Ben Khelifa, Najla Soyah, Audrey Labalme, Helene Guilbert, Damien Sanlaville, Ali Saad, Soumaya Mougou-Zerelli
Whole genome array technology is an essential tool for the detection of a large number of copy number variants (CNVs) in patients with ID and/or multiple congenital anomalies. However, the clinical significance of some microimbalances is not known. In this article, we succeeded to detect seven new variations of unknown significance (dup12p13.33, dup2p16.3, dupXq13.2, del12q24.33, dup16p13.11, trip4q22.1, and dup9p21.3), one CNV classified as known pathogenic syndrome (del22q13.31-q33), and one CNV classified as potentially pathogenic (del11q24...
June 2017: Journal of Pediatric Genetics
https://www.readbyqxmd.com/read/28488576/high-number-of-chromosomal-copy-number-aberrations-inversely-relates-to-t-11-19-q21-p13-translocation-status-in-mucoepidermoid-carcinoma-of-the-salivary-glands
#10
Johannes H Matse, Enno C I Veerman, Jan G M Bolscher, C René Leemans, Bauke Ylstra, Elisabeth Bloemena
Although rare, mucoepidermoid carcinoma (MEC) is one of the most common malignant salivary gland tumors. The presence of the t(11;19)(q21;p13) translocation in a subset of MECs has raised interest in genomic aberrations in MEC. In the present study we conducted genome-wide copy-number-aberration analysis by micro-array comparative-genomic-hybridization on 27 MEC samples.Low/intermediate-grade MECs had significantly fewer copy-number-aberrations compared to high-grade MECs (low vs high: 3.48 vs 30; p = 0.0025; intermediate vs high: 5...
April 20, 2017: Oncotarget
https://www.readbyqxmd.com/read/28488172/clear-cell-renal-cell-carcinoma-a-comparative-study-of-histological-and-chromosomal-characteristics-between-primary-tumors-and-their-corresponding-metastases
#11
Julien Dagher, Solène-Florence Kammerer-Jacquet, Frédéric Dugay, Marion Beaumont, Alexandra Lespagnol, Laurence Cornevin, Grégory Verhoest, Karim Bensalah, Nathalie Rioux-Leclercq, Marc-Antoine Belaud-Rotureau
Clear cell renal cell carcinoma (ccRCC) has a poor prognosis with a 50% risk of metastases. Little is known about the phenotypic and molecular profiles of metastases regarding their corresponding primary tumors. This study aimed to screen phenotypic and genotypic differences between metastases and their corresponding primary tumors. We selected four cases with available frozen material. The histological, immunohistochemical (VEGFA, CD31, SMA, Ki67, p53, PAR-3), FISH (VHL gene), next-generation sequencing (VHL and c-MET genes), multiplex ligation-dependent probe amplification, and array-(comparative genomic hybridization) CGH analyses were realized...
May 10, 2017: Virchows Archiv: An International Journal of Pathology
https://www.readbyqxmd.com/read/28481978/application-of-the-cghra-framework-to-the-genomic-characterization-of-diffuse-large-b-cell-lymphoma
#12
Sylvain Mareschal, Philippe Ruminy, Marion Alcantara, Céline Villenet, Martin Figeac, Sydney Dubois, Philippe Bertrand, Abdelilah Bouzelfen, Pierre-Julien Viailly, Dominique Penther, Hervé Tilly, Christian Bastard, Fabrice Jardin
Motivation: Although sequencing-based technologies are becoming the new reference in genome analysis, comparative genomic hybridization arrays (aCGH) still constitute a simple and reliable approach for copy number analysis. The most powerful algorithms to analyse such data have been freely provided by the scientific community for many years, but combining them is a complex scripting task. Results: The cghRA framework combines a user-friendly graphical interface and a powerful objectoriented command-line interface to handle a full aCGH analysis, as is illustrated in an original series of 107 Diffuse Large B-Cell Lymphomas...
May 8, 2017: Bioinformatics
https://www.readbyqxmd.com/read/28479756/relationship-between-morphology-euploidy-and-implantation-potential-of-cleavage-and-blastocyst-stage-embryos
#13
Gaurav Majumdar, Abha Majumdar, Ishwar C Verma, Kailash C Upadhyaya
AIM: The aim of this study was to investigate the relationship between the morphology, euploidy and implantation rate of cleavage stage and blastocyst stage embryos. SETTING: Institution-based, tertiary care in-vitro fertilization centre. STUDY DESIGN: This study included a retrospective data analysis of 306 embryos: 154 cleavage stage embryos and 152 blastocysts that underwent biopsy on day 3 and day 5/6, respectively, which were subsequently screened for aneuploidy by array comparative genomic hybridization analysis...
January 2017: Journal of Human Reproductive Sciences
https://www.readbyqxmd.com/read/28475022/hybrid-ecg-gated-versus-non-gated-512-slice-ct-angiography-of-the-aorta-and-coronary-artery-image-quality-and-effect-of-a-motion-correction-algorithm
#14
Ji Won Lee, Chang Won Kim, Geewon Lee, Han Cheol Lee, Sang-Pil Kim, Bum Sung Choi, Yeon Joo Jeong
Background Using the hybrid electrocardiogram (ECG)-gated computed tomography (CT) technique, assessment of entire aorta, coronary arteries, and aortic valve can be possible using single-bolus contrast administration within a single acquisition. Purpose To compare the image quality of hybrid ECG-gated and non-gated CT angiography of the aorta and evaluate the effect of a motion correction algorithm (MCA) on coronary artery image quality in a hybrid ECG-gated aorta CT group. Material and Methods In total, 104 patients (76 men; mean age = 65...
January 1, 2017: Acta Radiologica
https://www.readbyqxmd.com/read/28474525/high-performance-lithium-ion-hybrid-capacitors-employing-fe3o4-graphene-composite-anode-and-activated-carbon-cathode
#15
Shijia Zhang, Chen Li, Xiong Zhang, Xianzhong Sun, Kai Wang, Yanwei Ma
Lithium-ion capacitors (LICs) are considered as promising energy storage devices to realize excellent electrochemical performance, with high energy-power output. In this work, we employed a simple method to synthesize a composite electrode material consisting of Fe3O4 nanocrystallites mechanically anchored among the layers of three-dimensional arrays of graphene (Fe3O4-G), which exhibits several advantages compared with other traditional electrode materials, such as high Li storage capacity (820 mAh g(-1) at 0...
May 12, 2017: ACS Applied Materials & Interfaces
https://www.readbyqxmd.com/read/28464487/a-novel-xp22-13-microdeletion-in-nance-horan-syndrome
#16
Andrea Accogli, Monica Traverso, Francesca Madia, Tommaso Bellini, Maria Stella Vari, Francesca Pinto, Valeria Capra
BACKGROUND: Nance-Horan syndrome (NHS) is a rare X-linked developmental disorder characterized by congenital cataract, dental anomalies and facial dysmorphisms. Notably, up to 30% of NHS patients have intellectual disability and a few patients have been reported to have congenital cardiac defects. Nance-Horan syndrome is caused by mutations in the NHS gene that is highly expressed in the midbrain, retina, lens, tooth, and is conserved across vertebrate species. Although most pathogenic mutations are nonsense mutations, a few genomic rearrangements involving NHS locus have been reported, suggesting a possible pathogenic role of the flanking genes...
May 2, 2017: Birth Defects Res
https://www.readbyqxmd.com/read/28460268/pol%C3%AE-deficiency-induces-moderate-shortening-of-p53-mouse-lifespan-and-modifies-tumor-spectrum
#17
Beatriz Escudero, Diego Herrero, Yaima Torres, Susana Cañón, Antonio Molina, Rosa M Carmona, Javier Suela, Luis Blanco, Enrique Samper, Antonio Bernad
Non-homologous end joining (NHEJ) is the main mechanism for double strand break (DSB) DNA repair. The error-prone DNA polymerase mu (Polμ) is involved in immunoglobulin variable region rearrangement and in general, NHEJ in non-lymphoid cells. Deletion of NHEJ factors in P53(-/-) mice, which are highly prone to development of T cell lymphoma, generally increases cancer incidence and shifts the tumor spectrum towards aggressive pro-B lymphoma. In contrast, Polμ deletion increased sarcoma incidence, proportionally reducing pro-B lymphoma development on the P53-deficient background...
April 10, 2017: DNA Repair
https://www.readbyqxmd.com/read/28454321/the-loss-of-casp4-expression-is-associated-with-poor-prognosis-in-esophageal-squamous-cell-carcinoma
#18
Misako Shibamoto, Hidenari Hirata, Hidetoshi Eguchi, Genta Sawada, Noritaka Sakai, Yoshiaki Kajiyama, Koshi Mimori
Esophageal squamous cell carcinoma (ESCC) has high biological malignant potential among the various digestive tract cancers and is associated with a poor prognosis. To identify novel genes involved in tumor progression, the present study analyzed the genetic and transcriptional alterations in two clinical cohorts, totaling 157 cases of ESCC (78 cases from the discovery set and 79 cases from the validation set). From the discovery set, gene expression and copy number profiles were analyzed using expression arrays and array-comparative genomic hybridization, respectively...
March 2017: Oncology Letters
https://www.readbyqxmd.com/read/28450889/identification-of-mosaic-and-segmental-aneuploidies-by-next-generation-sequencing-in-preimplantation-genetic-screening-can-improve-clinical-outcomes-compared-to-array-comparative-genomic-hybridization
#19
Hsing-Hua Lai, Tzu-Hsuan Chuang, Lin-Kin Wong, Meng-Ju Lee, Chia-Lin Hsieh, Huai-Lin Wang, Shee-Uan Chen
BACKGROUND: Chromosomal mosaicism is observed as the presence of both euploid and aneuploid cells in a particular blastocyst. Recent studies have reported that the implantation rate of mosaic embryo transfer is remarkably lower than the euploid embryos. The superior capability of next-generation sequencing (NGS) to detect chromosomal mosaicism in preimplantation genetic screening (PGS) remains controversial, and several data displayed similar implantation and pregnancy rates using NGS or array comparative genomic hybridization (aCGH)...
2017: Molecular Cytogenetics
https://www.readbyqxmd.com/read/28450375/bifcros-a-low-background-fluorescence-repressor-operator-system-for-labeling-of-genomic-loci
#20
Sarah Milbredt, Torsten Waldminghaus
Fluorescence-based methods are widely used to analyze elementary cell processes such as DNA replication or chromosomal folding and segregation. Labeling DNA with a fluorescent protein allows the visualization of its temporal and spatial organization. One popular approach is FROS (Fluorescence Repressor Operator System). This method specifically labels DNA in vivo through binding of a fusion of a fluorescent protein and a repressor protein to an operator array, which contains numerous copies of the repressor binding site integrated into the genomic site of interest...
April 26, 2017: G3: Genes—Genomes—Genetics
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