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Grati Francesca Romana FR Research and Development, Cytogenetics and Molecular Biology, TOMA Advanced Biomedical Assays, S.p.A., Via Francesco Ferrer 25/27, 21052, Busto Arsizio, VA, Italy, - - 2015
BACs-on-Beads™ (BoBs™) is a new emerging technology, a modification of comparative genomic hybridization that can be used to detect DNA copy number gains and losses. Here, we describe the application of two different types of BoBs™ assays: (1) Prenatal BoBs (CE-IVD) to detect the most frequent syndromes associated with chromosome ...
Lund Ida Charlotte Bay IC Department of Clinical Genetics, Aarhus University Hospital, Aarhus, - - 2014
To evaluate the clinical value of high-resolution chromosomal microarray (CMA) for examination of genomic imbalances in prenatal uncultured samples from fetuses with increased nuchal translucency (NT) and normal quantitative fluorescent polymerase chain reaction (QF-PCR) test, in a clinical setting where more than 95% of pregnant women receive 1(st) trimester combined ...
Hu Yingxi Y 1 Laboratory of Molecular Diagnostics, College of Pharmaceutical Sciences, Soochow University , Suzhou, China - - 2014
Aims: The object of the present study was to develop a novel multiplex reverse transcription-polymerase chain reaction (RT-PCR)-based assay to detect four common recurrent chromosomal translocations t(9;22)(q34;q11), t(15;17)(q22;q12), t(8;21)(q22;q22), and t(1;19)(q23;q13). Results: This novel multiplex RT-PCR method can specifically detect these six positive plasmids with known transcripts, and the sensitivities ...
Hartmann Luise L German Cancer Consortium (DKTK), Munich, - - 2014
Array comparative genomic hybridization (aCGH) has become a powerful tool for analyzing hematopoietic neoplasms and identifying genome-wide copy number changes in a single assay. aCGH also has superior resolution compared with fluorescence in situ hybridization (FISH) or conventional cytogenetics. Integration of single nucleotide polymorphism (SNP) probes with microarray analysis allows ...
Korostelev S S First Moscow Medical University , Moscow , Russia - - 2014
Abstract The purposes of this study is to examine possibility to use combination of non-invasive prenatal testing (NIPT) and chromosomal microarray analysis (CMA) for prenatal diagnostics and their advantages between combined first-trimester screen with confirmation by karyotyping of CVS or amniocytes. A total of 1968 pregnant women, in this study, ...
Lo Jamie O JO Maternal Fetal Medicine - - 2014
Chromosomal microarray analysis (CMA) assesses chromosomal copy number alterations and affords higher resolution when compared with standard karyotype. This review provides the obstetric provider with an update on the technology, use, and controversies concerning CMA utilization in prenatal diagnosis. Chromosomal microarray analysis offers increased resolution for copy number abnormalities compared ...
Franasiak Jason M JM Division of Reproductive Endocrinology, Department of Obstetrics Gynecology and Reproductive Sciences, Robert Wood Johnson Medical School, Rutgers University, New Brunswick, NJ, USA, - - 2014
To characterize each chromosome's risk for being involved in embryonic aneuploidy. This is a retrospective cohort study conducted at a single, academic center. The cohort consisted of 15,169 consecutive trophectoderm biopsies which then underwent comprehensive chromosome screening utilizing validated real-time polymerase chain reaction (RT-PCR) or single nucleotide polymosphism (SNP) array ...
Kharbanda Mira M West of Scotland Department of Clinical Genetics, Level 2A, Southern General Hospital, Glasgow, - - 2014
Array-comparative genomic hybridisation (array-CGH) is a relatively new test that permits close scrutiny of chromosomal structure to detect genomic microdeletions and microduplications that are invisible in a conventional karyotype. Array-CGH is now the 'first-line' genetic test in the investigation of early developmental impairments and learning difficulties, especially if the clinical ...
Vasquez Paula A PA Department of Mathematics; University of South Carolina; Columbia, SC - - 2014
Clear organizational patterns on the genome have emerged from the statistics of population studies of fixed cells. However, how these results translate into the dynamics of individual living cells remains unexplored. We use statistical mechanics models derived from polymer physics to inquire into the effects that chromosome properties and dynamics ...
Natesan Senthilkumar A SA Illumina, CPC4, Capital Park, Fulbourn, Cambridge, CB21 5XE, - - 2014
Preimplantation genetic diagnosis (PGD) for monogenic disorders has the drawback of time and cost associated with tailoring a specific test for each couple, disorder, or both. The inability of any single assay to detect the monogenic disorder in question and simultaneously the chromosomal complement of the embryo also limits its ...
Marques Ana A Department of Biology and CESAM, University of Aveiro, 3810-193 Aveiro, Portugal. Electronic address: - - 2014
The pyrethroid insecticide Decis®, containing deltamethrin as active ingredient, is among the most popular broad-spectrum biocides, with wide application in agriculture and home pest control. The occurrence of deltamethrin in the aquatic environment is well-established, but the possible genotoxic effects of Decis® in non-target organisms, namely fish, remain unknown. Hence, ...
Nuta Otilia O Public Health England, Centre for Radiation, Chemical and Environmental Hazards, Chilton, Didcot, Oxon, OX11 0RQ, - - 2014
The aim of this work was to investigate the impact of long-term exposure to low concentrations of sodium arsenite on the cellular response to ionising radiation. Human lymphoblastoid GM1899a cells were cultured in the presence of sodium arsenite for up to six months. Following chemical exposure, acute challenge doses of ...
Glazer Andrew M AM Molecular and Cell Biology Department, University of California-Berkeley, Berkeley, CA 94720, - - 2014
Convergent evolution, the repeated evolution of similar phenotypes in independent lineages, provides natural replicates to study mechanisms of evolution. Cases of convergent evolution might have the same underlying developmental and genetic bases, implying that some evolutionary trajectories might be predictable. In a classic example of convergent evolution, most freshwater populations ...
Bartnik Magdalena - - 2014
Intellectual disability (ID)/Developmental delay (DD), which occurs in 1-3% of the population, accounts for a large number of cases regularly seen in genetics clinics. Currently, Array Comparative Genomic Hybridization (array CGH) is recommended by the International Standards for Cytogenomic Arrays (ISCA) Consortium as a first line test in the diagnostics ...
Wang Chuan-Chao CC State Key Laboratory of Genetic Engineering and MOE Key Laboratory of Contemporary Anthropology, School of Life Sciences, Fudan University, Shanghai 200438, - - 2014
Y chromosome is a superb tool for inferring human evolution and recent demographic history from a paternal perspective. However, Y chromosomal substitution rates obtained using different modes of calibration vary considerably, and have produced disparate reconstructions of human history. Here, we discuss how substitution rate and date estimates are affected ...
Nakamura Koh K Biodiversity Research Center, Academia Sinica, Nangang, Taipei, - - 2014
A new species Ixeridium calcicola (Compositae) endemic to middle altitude (ca 1,000-2,000 m asl) limestone mountains of eastcentral Taiwan is described based on morphological and chromosome cytological observations and molecular phylogenetic analyses. Ixeridium calcicola resembles Ixeridium transnokoense, endemic to upper montane and alpine ranges (2,600-3,500 m asl) of Taiwan, in ...
Xu H B HB Department of Obstetrics and Gynecology, The First Affiliated Hospital of Chongqing Medical University, Chongqing, China - - 2014
The accuracy of prenatal diagnosis for abnormal chromosome diseases by chromosome microarray technology and karyotyping were compared. A literature search was carried out in the MEDLINE database with the keywords "chromosome" and "karyotype" and "genetic testing" and "prenatal diagnosis" and "oligonucleotide array sequence". The studies obtained were filtered by using ...
Fukuda Atsushi A Department of Reproductive Biology, National Research Institute for Child Health and Development, 2-10-1 Okura, Setagaya, Tokyo 157-8535, - - 2014
Maintaining a single active X-chromosome by repressing Xist is crucial for embryonic development in mice. Although the Xist activator RNF12/RLIM is present as a maternal factor, maternal Xist (Xm-Xist) is repressed during preimplantation phases to establish imprinted X-chromosome inactivation (XCI). Here we show, using a highly reproducible chromatin immunoprecipitation method ...
Iuso Domenico - - 2013
Abstract Despite its success in almost all farm and laboratory animals, somatic cell nuclear transfer (SCNT) is still a low-efficiency technique. In this investigation, we determined the impact of each enucleation step on oocyte viability (assessed by parthenogenetic activation): Hoechst (HO) staining, cytochalasin B, ultraviolet (UV) exposure, and demecolcine. Our ...
Tintori Andrea - - 2013
After a long period of low interest in the Triassic actinopterygian fishes, the end of the last century saw a renaissance, following the discovery of new Norian (Late Triassic) sites in the Southern Alps around Bergamo and Udine (Zorzino Limestone and Forni Dolostone faunas, hereinafter called Triassic Late Fish Fauna ...
Amitai A A Group of Applied Mathematics and Computational Biology, Ecole Normale Supérieure, 46 rue d'Ulm 75005 Paris, - - 2013
Is it possible to extract the size and structure of chromosomal territories (confined domain) from the encounter frequencies of chromosomal loci? To answer this question, we estimate the mean time for two monomers located on the same polymer to encounter, which we call the mean first encounter time in a ...
Vozilova A V - - 2013
This paper presents the results of a cytogenetic study conducted among residents of the Techa Riverside communities (Southern Urals, Russia) exposed in the early 1950s as a result of releases of liquid radioactive wastes from the Mayak plutonium-production facility. The study was performed 50-60 years after the beginning of the ...
Bonde Jens P E - - 2013
PURPOSE OF REVIEW: To highlight and discuss the new evidence on occupational and environmental risk to male reproductive function. RECENT FINDINGS: Semen quality following occupational exposure to boron (an acknowledged experimental reproductive toxicant) and benzene, and new evidence on low-level environmental exposure to widespread xenobiotics with endocrine actions. SUMMARY: The ...
Pottier Géraldine - - 2013
Lead (Pb) is an important environmental contaminant due to its widespread use over many centuries. While it affects primarily every organ system of the body, the most pernicious effects of Pb are on the central nervous system leading to cognitive and behavioral modification. Despite decades of research, the mechanisms responsible ...
Dulude Geneviève - - 2013
Objectif. L'objectif de cette étude est d'examiner les relations entre les pratiques alimentaires de la mère et l'alimentation de l'enfant d'âge préscolaire. Méthodes. Cent vingt-deux mères ont été recrutées par des milieux de garde de l'île de Montréal et ont rempli un questionnaire autoadministré. Celui-ci portait sur l'impact des pratiques ...
Kubota Kengo K Department of Civil and Environmental Engineering, Tohoku University, Miyagi, Japan. - - 2013
Fluorescence in situ hybridization (FISH) has become a standard technique in environmental microbiology. More than 20 years have passed since this technique was first described, and it is currently used for the detection of ribosomal RNA, messenger RNA, and functional genes encoded on chromosomes. This review focuses on the advancement ...
Bing Zhanyong - - 2012
Urothelial carcinomas arising from the upper urinary tract (renal pelvis and ureter) are rare and few molecular genetic studies of these tumors have been conducted to date. We investigated hyperploidy at chromosomes 3, 7, and 17 using a multitarget fluorescence in situ hybridization system to identify genetic alterations in patients ...
Zhang Yan - - 2012
Gray leaf spot (GLS), caused by the causal fungal pathogen Cercospora zeae-maydis, is one of the most serious foliar diseases of maize worldwide. In the current study, a highly resistant inbred line Y32 and a susceptible line Q11 were used to produce segregating populations for both genetic analysis and QTL ...
Salinas María - - 2012
A novel source of resistance to two-spotted spider mite (Tetranychus urticae Koch) was found in Solanum pimpinellifolium L. accession TO-937 and thereby a potential source of desirable traits that could be introduced into new tomato varieties. This resistance was found to be controlled by a major locus modulated by minor ...
Onal Bulent - - 2012
PURPOSE: We identified the loci associated with renal scarring risk and protection in affected sib pairs with familial vesicoureteral reflux. MATERIALS AND METHODS: A genome-wide analysis of vesicoureteral reflux with high density single nucleotide polymorphisms was conducted in 43 families with 2 or more affected children. A total of 43 ...
Cloutier Sylvie - - 2012
Three linkage maps of flax (Linum usitatissimum L.) were constructed from populations CDC Bethune/Macbeth, E1747/Viking and SP2047/UGG5-5 containing between 385 and 469 mapped markers each. The first consensus map of flax was constructed incorporating 770 markers based on 371 shared markers including 114 that were shared by all three populations ...
McAuliffe M E - - 2012
Is there an association between sex chromosome disomy and semen concentration, motility and morphology? Higher rates of XY disomy were associated with a significant increase in abnormal semen parameters, particularly low semen concentration. Although some prior studies have shown associations between sperm chromosomal abnormalities and reduced semen quality, results of ...
Marone Daniela - - 2012
A durum wheat consensus linkage map was developed by combining segregation data from six mapping populations. All of the crosses were derived from durum wheat cultivars, except for one accession of T. ssp. dicoccoides. The consensus map was composed of 1,898 loci arranged into 27 linkage groups covering all 14 ...
Flister Michael J MJ Human and Molecular Genetics Center, Department of Physiology, Medical College of Wisconsin, 8701 Watertown Plank Rd, Milwaukee, WI 53226, - - 2012
Previous studies have identified multiple blood pressure and renal disease quantitative trait loci located on rat chromosome 12. In the present study, we narrowed blood pressure loci using a series of overlapping Dahl salt-sensitive/Mcwi (SS)-12 Brown Norway (BN) congenic lines. We found that transferring 6.1 Mb of SS chromosome 12 ...
Coelho Luciene M - - 2012
The karyotype of Microsporum canis was analyzed by contoured-clamped homogeneous electric field (CHEF) gel electrophoresis. Four chromosomal bands that correspond to five chromosomes ranging from 3.0-6.2 Mb were identified, adding the total genome size to approximately 24.9 Mb. To confirm the number of chromosomes in M. canis, the number of ...
Akiyama Yukio - - 2012
The grass festulolium, a hybrid between the genera Festuca and Lolium , has a variety of beneficial agronomic attributes derived from both parents. Compared with high-ploidy festulolium, diploid festulolium is well suited to stabilizing ploidy and for studying agronomic traits and genetic relationships. We sought to produce a diploid festulolium ...
Wang Yue - - 2012
ABSTRACT Tianjingyeshengdao' (TY) is a rice cultivar with durable resistance to populations of Magnaporthe oryzae (the causal agent of blast) in China. To understand the genetic basis of its resistance to blast, we developed a population of recombinant inbred lines from a cross between TY and the highly susceptible 'CO39' ...
Zou Guihua - - 2012
The productivity of sorghum is mainly determined by agronomically important traits. The genetic bases of these traits have historically been dissected and analysed through quantitative trait locus (QTL) mapping based on linkage maps with low-throughput molecular markers, which is one of the factors that hinder precise and complete information about ...
Shen Yingyue - - 2012
Fat content (FC) is an important component of the nutritional quality of the rice (Oryza sativa L.) grain and a partial determinant of grain quality. Three FC QTLs were identified from an analysis of a set of rice 'Kasalath'/'Koshihikari' backcross inbred lines, which were grown in three independent environments. Two ...
Okumura Kazuhiro - - 2012
MSM/Ms is an inbred mouse strain derived from a Japanese wild mouse, Mus musculus molossinus. In this study, we showed that MSM/Ms exhibit dominant resistance when crossed with susceptible FVB/N mice and subjected to the two stage skin carcinogenesis protocol using 7, 12-dimethylbenz(a)anthracene (DMBA)/ 12-O-tetradecanoylphorbol-13-acetate (TPA). A series of F1 ...
Jønch Aia E - - 2012
Partial duplications and deletions of chromosome 13 are rare and the phenotypic expressions of both aneuploidies are highly variable. Here we report on a fetus diagnosed prenatally with partial trisomy of 13q and a diaphragmatic hernia as a sole malformation. The parents had decided to terminate the pregnancy after the ...
Munari Carla Carolina - - 2012
Solanum lycocarpum St.-Hil. (Solanaceae) is a hairy shrub or small much-branched tree of the Brazilian Cerrado, popularly known as "fruit-of-wolf". Considering that the induction of chromosomal mutations is involved in the process of carcinogenesis, and that S. lycocarpum is often used in folk medicine, it becomes relevant to study its ...
Chapman Kim L - - 2012
Abstract Purpose: The aim of this study was to contribute to an inter-laboratory investigation within the Non-Targeted Effects of Ionising Radiation Integrated project (NOTE) (2006-2010) to investigate the role of serum serotonin concentration on radiation-induced bystander effects using our successful experimental design. Two sera of high and low serotonin levels ...
Ren Yan - - 2012
Stripe rust and leaf rust, caused by Puccinia striiformis Westend. f. sp. tritici Erikss. and P. triticina, respectively, are devastating fungal diseases of common wheat (Triticum aestivum L.). Chinese wheat cultivar Bainong 64 has maintained acceptable adult-plant resistance (APR) to stripe rust, leaf rust and powdery mildew for more than ...
Castro Gisela N - - 2012
In oligodendrogliomas, 1p loss of heterozygosity (LOH) is a predictor of good prognosis and treatment response. In contrast, in uveal melanomas, LOH of chromosome 3 has been linked to poor prognosis and downregulation of Hsp27. In the present study, we have analyzed the expression of heat-shock proteins (Hsps) to characterize ...
Park Myung Jin - - 2012
Four multiplex PCR systems followed by single base extension reactions were developed to score 22 single nucleotide polymorphisms (SNPs) and identify the most frequent East Asian Y chromosome haplogroups. Select Y chromosome SNPs allowed hierarchical testing for almost all of the major East Asian haplogroups along the revised Y chromosome ...
Ek Weronica - - 2012
Systemic sclerosis (SSc) or scleroderma is a rare, autoimmune, multi-factorial disease characterized by early microvascular alterations, inflammation, and fibrosis. Chickens from the UCD-200 line develop a hereditary SSc-like disease, showing all the hallmarks of the human disorder, which makes this line a promising model to study genetic factors underlying the ...
Yan Pearlly - - 2012
The outcome of older (≥ 60 years) acute myeloid leukemia (AML) patients is poor, and novel treatments are needed. In a phase 2 trial for older AML patients, low-dose (20 mg/m(2) per day for 10 days) decitabine, a DNA hypomethylating azanucleoside, produced 47% complete response rate with an excellent toxicity ...
Zhang Xiaoying - - 2012
BACKGROUND: Genetic and epigenetic alterations are the two key mechanisms in the development of hepatocellular carcinoma (HCC). However, how they contribute to hepatocarcinogenesis and the correlation between them has not been fully elucidated. METHODS: A total of 48 paired HCCs and noncancerous tissues were used to detect loss of heterozygosity ...
Núñez Carolina - - 2012
Y chromosome single nucleotide polymorphisms (Y-SNPs) are indispensable markers for haplogroup determination. Since Y chromosome haplogroups show a high specific geographical distribution, they play a major role in population genetics but can also benefit forensic investigations. Although haplogroup prediction methods based on Y chromosome short tandem repeats (Y-STRs) exist and ...
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