Search Results
Results 1 - 50 of 623
1 2 3 4 5 6 7 8 9 10 >
Mukherjee Ayan A a Animal Genomics Lab, Animal Biotechnology Center , National Dairy Research Institute , Karnal , - - 2015
The removal of crossbred bulls from semen collection programs due to the production of poor quality semen causes substantial monetary losses to the dairy industry. Seminal quality, a quantitative trait, is greatly influenced by genome level variations. Deletion and/or duplication of Y chromosomal genes and subsequent changes in gene copy ...
Hamid Ahmed B AB Jena University Hospital, Institute of Human Genetics, Friedrich Schiller University, Kollegiengasse 10, Jena, D-07743, - - 2015
Fluorescence in situ hybridization (FISH) and/or array-comparative genomic hybridization (aCGH) performed after initial banding cytogenetics is still the gold standard for detection of chromosomal rearrangements. Although aCGH provides a higher resolution, FISH has two main advantages over the array-based approaches: (1) it can be applied to characterize balanced as well ...
Liau Joy J Maternal-Fetal Care and Genetics, University of California, San Diego, San Diego, CA; Department of Radiology, University of California, San Diego, San Diego, - - 2014
Sonographic aneuploidy markers and structural anomalies associated with the 5 most common chromosomal aneuploidies are organized and simplified to highlight the many sonographic findings that are commonly seen with each aneuploidy. Identification of these findings allows families to have the option to pursue prenatal genetic testing to confirm or exclude ...
Maddalo Danilo D Memorial Sloan Kettering Cancer Center, Cancer Biology and Genetics Program, 1275 York Avenue, New York, New York 10065, - - 2014
Chromosomal rearrangements have a central role in the pathogenesis of human cancers and often result in the expression of therapeutically actionable gene fusions. A recently discovered example is a fusion between the genes echinoderm microtubule-associated protein like 4 (EML4) and anaplastic lymphoma kinase (ALK), generated by an inversion on the ...
Fiorentino Francesco F Molecular Genetics Laboratory, 'GENOMA', Via di Castel Giubileo, 11, 00138 Rome, Italy - - 2014
Can next-generation sequencing (NGS) techniques be used reliably for comprehensive aneuploidy screening of human embryos from patients undergoing IVF treatments, with the purpose of identifying and selecting chromosomally normal embryos for transfer? Extensive application of NGS in clinical preimplantation genetic screening (PGS) cycles demonstrates that this methodology is reliable, allowing ...
Sandhu Nitika N Division of Plant Breeding, Genetics, and Biotechnology, International Rice Research Institute, DAPO Box 7777, Metro Manila, The Philippines Department of Molecular Biology and Biotechnology, CCS Haryana Agricultural University, Hisar-125004, - - 2014
The development of rice varieties for dry direct-seeded conditions can be accelerated by selecting suitable traits. In the present investigation, traits hypothesized to be important for direct-seeded conditions in rainfed systems, including seedling emergence, early vegetative vigour, nutrient uptake, nodal root number, and root hair length and density, were characterized ...
Cormier Fabien F Centre de recherche de Chappes, Biogemma, Route d'Ennezat CS90126, 63720, Chappes, - - 2014
This study identified 333 genomic regions associated to 28 traits related to nitrogen use efficiency in European winter wheat using genome-wide association in a 214-varieties panel experimented in eight environments. Improving nitrogen use efficiency is a key factor to sustainably ensure global production increase. However, while high-throughput screening methods remain ...
Fuller Zachary L ZL The Pennsylvania State University; - - 2014
There has been a renewed interest in investigating the role of stabilizing selection acting on genome-wide traits such as codon usage bias. Codon bias, when synonymous codons are utilized at unequal frequencies, occurs in a wide variety of taxa. Standard evolutionary models explain the maintenance of codon bias through a ...
Rosser Neil N Department of Genetics, Evolution and Environment, University College London, Gower Street, London, WC, 1E 6BT, - - 2014
Multilocus clines between Müllerian mimetic races of Heliconius butterflies provide a classic example of the maintenance of hybrid zones and their importance in speciation. Concordant hybrid zones in the mimics Heliconius erato and H. melpomene in northern Peru were carefully documented in the 1980s, and this prior work now permits ...
Yakut Sezin S Department of Medical Biology and Genetics, Akdeniz University, School of Medicine, ANTALYA, - - 2014
Objective: The aim of this study was presentation of the ultrasonographic findings and perinatal autopsy of cases with rare chromosomal abnormalities. Material and Method: A total of 10125 prenatal cases over 17 years including 8731 amniocentesis, 973 chorionic villus sampling, and 421 fetal blood sampling cases were evaluated for prenatal ...
Saldarriaga Wilmar W Professor University of Valle. Department of Obstetrics and Gynecology; Department of morphology. University of - - 2014
The aim of this study was to determine the diagnostic accuracy of comparative genomic hybridization (CGH) compared with karyotyping for the detection of numerical and structural chromosomal alterations in prenatal diagnosis. A meta-analysis was performed using searches of PubMed, EMBASE, CENTRAL, Cochrane Register of Diagnostic Test Accuracy Studies, Google Scholar, ...
Boyle Eileen M EM Division of Molecular Pathology, The Institute of Cancer Research, London, UK; Service des maladies du Sang, Hopital Huriez, Centre Hospitalier Regional Universitaire de Lille, Lille, - - 2014
Risk stratification in myeloma requires an accurate assessment of the presence of a range of molecular abnormalities including the differing IGH translocations and the recurrent copy number abnormalities that can impact clinical behavior. Currently, interphase fluorescence in situ hybridization is used to detect these abnormalities. High failure rates, slow turnaround, ...
Maccaferri Marco - - 2014
Durum wheat (Triticum durum Desf.) is a tetraploid grown in the medium to low-precipitation areas of the Mediterranean Basin, North America and South-West Asia. Genomics applications in durum wheat have the potential to boost exploitation of genetic resources and to advance understanding of the genetics of important complex traits (e.g. ...
Tsigenopoulos Costas S CS Institute of Marine Biology, Biotechnology and Aquaculture (IMBBC), Hellenic Centre for Marine Research (HCMR), Thalassocosmos, Ex-US base at Gournes Pediados, 715 00 Heraklion, Crete, Greece. Electronic address: - - 2014
An updated second linkage map was constructed for the gilthead sea bream, Sparus aurata L., a fish species of great economic importance for the Mediterranean aquaculture industry. In contrast to the first linkage map which mainly consisted of genomic microsatellites (SSRs), the new linkage map is highly enriched with SSRs ...
Brand Harrison H Psychiatric and Neurodevelopmental Genetics Unit, Molecular Neurogenetics Unit, Center for Human Genetic Research, Massachusetts General Hospital, Boston, MA 02114, USA; Department of Neurology, Massachusetts General Hospital and Harvard Medical School, Boston, MA 02114, - - 2014
Structural variation (SV) is a significant component of the genetic etiology of both neurodevelopmental and psychiatric disorders; however, routine guidelines for clinical genetic screening have been established only in the former category. Genome-wide chromosomal microarray (CMA) can detect genomic imbalances such as copy-number variants (CNVs), but balanced chromosomal abnormalities (BCAs) ...
Meng Nana N Department of Ophthalmology, Affiliated People's Hospital, Jiangsu University , Zhenjiang , China - - 2014
Abstract Aims: A meta-analysis was conducted to evaluate the association of rs1533428, rs12994401, rs10202118 polymorphism on chromosome 2p16.3 with POAG susceptibility. Methods: Systematic searches were performed on the electronic databases, the Cochrane Central Register of Controlled Trials, PubMed, ISI Web of Knowledge (Version 4.5), Chinese national knowledge infrastructure (CNKI), and ...
Caruana Georgina G Department of Anatomy and Developmental Biology, Monash University, Clayton, VIC, Australia, - - 2014
The most common cause of end-stage renal disease in children can be attributed to congenital anomalies of the kidney and urinary tract (CAKUT). Despite this high incidence of disease, the genetic mutations responsible for the majority of CAKUT cases remain unknown. To identify novel genomic regions associated with CAKUT, we ...
Fleischmann Andreas A Department of Biology, Systematic Botany and Mycology and Geo-Bio Center LMU, Ludwig-Maximilians-Universität München, Menzinger Strasse 67, D 80638 Munich, Germany - - 2014
Some species of Genlisea possess ultrasmall nuclear genomes, the smallest known among angiosperms, and some have been found to have chromosomes of diminutive size, which may explain why chromosome numbers and karyotypes are not known for the majority of species of the genus. However, other members of the genus do ...
Bispo Adriana Valéria Sales AV Departamento de Genética, Universidade Federal de Pernambuco. Av. da Engenharia, s/n, Cidade Universitária, 50740-600, Recife, PE, - - 2014
Turner syndrome (TS) is a common genetic disorder in females associated with the absence of complete or parts of a second sex chromosome. In 5-12% of patients, mosaicism for a cell line with a normal or structurally abnormal Y chromosome is identified. The presence of Y-chromosome material is of medical ...
Sánchez-Molano Enrique - - 2014
Canine hip dysplasia (CHD) is characterised by a malformation of the hip joint, leading to osteoarthritis and lameness. Current breeding schemes against CHD have resulted in measurable but moderate responses. The application of marker-assisted selection, incorporating specific markers associated with the disease, or genomic selection, incorporating genome-wide markers, has the ...
Despierre Evelyn E Gynecologic Oncology and Leuven Cancer Institute, University Hospitals Leuven, and Department of Oncology, KU Leuven, Belgium. Electronic address: - - 2014
Platinum resistance remains an obstacle in the treatment of epithelial ovarian cancer (EOC). The goal of this study was to profile EOCs for somatic copy number alterations (SCNAs) as predictive markers of platinum response. SCNAs were assessed in a discovery (n=86) and validation cohort (n=115) of high risk stage I ...
Geppert M M Institute of Legal Medicine and Forensic Sciences, Department of Forensic Genetics, Charité - Universitätsmedizin Berlin, Germany. Electronic address: - - 2014
The Y-chromosomal genetic landscape of South America is relatively homogenous. The majority of native Amerindian people are assigned to haplogroup Q and only a small percentage belongs to haplogroup C. With the aim of further differentiating the major Q lineages and thus obtaining new insights into the population history of ...
Shi Yuzhen Y State Key Laboratory of Cotton Biology, Key Laboratory of Biological and Genetic Breeding of Cotton, The Ministry of Agriculture, Institute of Cotton Research, Chinese Academy of Agricultural Sciences, Anyang, 455000, - - 2014
To introgress the good fiber quality and yield from Gossypium barbadense into a commercial Upland cotton variety, a high-density simple sequence repeat (SSR) genetic linkage map was developed from a BC1 F1 population of G. hirsutum × G. barbadense. The map comprised 2,292 loci and covered 5,115.16 centiMorgan (cM) of the cotton ...
Lee Hyunsook H Department of Biological Sciences and the Institute of Molecular Biology and Genetics, Seoul National University, Seoul 151-742, - - 2014
Alteration in chromosome numbers and structures instigate and foster massive genetic instability. As Boveri has seen a hundred years ago (Boveri, 1914; 2008), aneuploidy is hallmark of many cancers. However, whether aneuploidy is the cause or the result of cancer is still at debate. The molecular mechanism behind aneuploidy includes ...
Utsunomia R R Departamento de Morfologia, Instituto de Biociências, Universidade Estadual Paulista, Distrito de Rubião Junior, s/n, 18618-970, Botucatu, SP, - - 2014
In this study, genetic differentiation between karyomorphs A (2n = 42) and D (2n = 39/40) of the wolf fish Hoplias malabaricus, which is comprised of several cryptic species that present a wide variety of diploid chromosome numbers and sex chromosome systems, resulting in the identification of seven distinct karyomorphs (A-G), was investigated using ...
Chen Zhongxue Z Department of Epidemiology and Biostatistics, School of Public Health, Indiana University Bloomington, Bloomington, IN, USA - - 2014
In the past decade, hundreds of genome-wide association studies have been conducted to detect the significant single-nucleotide polymorphisms that are associated with certain diseases. However, most of the data from the X chromosome were not analyzed and only a few significant associated single-nucleotide polymorphisms from the X chromosome have been ...
Sun Lei L Laboratory of Medical Genetics, Qinzhou Maternal and Child Health Hospital, Guangxi, China. Electronic address: - - 2014
Development of a qPCR test for the detection of trisomy 21 using segmental duplications. Segmental duplications in the TTC3 gene on chromosome 21 and the KDM2A gene on chromosome 11 were selected as molecular markers for the diagnostic qPCR assay. A set of consensus primers selected from the conserved regions ...
Lesne Annick A 1] Laboratoire de Physique Théorique de la Matière Condensée, CNRS UMR 7600, Université Pierre et Marie Curie, Sorbonne Universités, Paris, France. [2] Institut de Génétique Moléculaire de Montpellier, CNRS UMR 5535, Université de Montpellier, Montpellier, - - 2014
A computational challenge raised by chromosome conformation capture (3C) experiments is to reconstruct spatial distances and three-dimensional genome structures from observed contacts between genomic loci. We propose a two-step algorithm, ShRec3D, and assess its accuracy using both in silico data and human genome-wide 3C (Hi-C) data. This algorithm avoids convergence ...
Ahmad Firoz F Research and Development, SRL Ltd., Plot No. 1, Prime Square Building, S.V. Road, Goregaon (W), Mumbai, - - 2014
The strong association of diagnostic karyotype with clinical outcome has made cytogenetics one of the most valuable diagnostic and prognostic tools for acute myeloid leukemia (AML) till today. Complex chromosomal findings are reported to be seen in nearly 10-15% of adult AMLs and are generally associated with poor outcome. In ...
Babu B Kalyana BK Vivekananda Parvateeya Krishi Anusanthan Sansthan (Indian Council of Agricultural Research), Almora, 263601, Uttarakhand, India, - - 2014
The mapping analysis resulted in identification of five significant QTLs for opaque2 modifiers influencing the tryptophan content in quality protein maize using functional and genomic SSR markers. Quality protein maize (QPM) was developed by selecting genetic modifiers that convert opaque2 mutant containing high lysine and tryptophan. There are several unlinked ...
Varetti Gianluca G Department of Pediatric Oncology, Dana-Farber Cancer Institute, Boston, Massachusetts 02115 Department of Cell Biology, Harvard Medical School, Boston, Massachusetts - - 2014
Aneuploidy, defined as an abnormal number of chromosomes, is a hallmark of cancer. Paradoxically, aneuploidy generally has a negative impact on cell growth and fitness in nontransformed cells. In this work, we review recent progress in identifying how aneuploidy leads to genomic and chromosomal instability, how cells can adapt to ...
Huang Jin J Department of Obstetrics and Gynecology, Reproductive Medical Centre, Peking University Third Hospital, Beijing, People's Republic of China; Key Laboratory of Assisted Reproduction, Ministry of Education and Beijing Key Laboratory of Reproductive Endocrinology and Assisted Reproductive Technology, Beijing, People's Republic of - - 2014
To validate multiple annealing and looping-based amplification cycle (MALBAC) sequencing for 24-chromosome aneuploidy screening of cleavage embryos and to explore the chromosomal characteristics of embryos at the cleavage stage. The 24-chromosome aneuploidy analyses of the blastomeres included comparative genomic hybridization (CGH), single nucleotide polymorphism (SNP), and MALBAC sequencing. University-affiliated IVF ...
Cordeiro Juliana J Departamento de Ecologia, Zoologia e Genética, Instituto de Biologia, Universidade Federal de Pelotas, Pelotas, Rio Grande do Sul, CEP 96001-970, Brazil, - - 2014
Detailed chromosome photomaps are the first step to develop further chromosomal analysis to study the evolution of the genetic architecture in any set of species, considering that chromosomal rearrangements, such as inversions, are common features of genome evolution. In this report, we analyzed inversion polymorphisms in 25 different populations belonging ...
Reddy Umesh K UK West Virginia State University; - - 2014
We used genotyping by sequencing to identify a set of 10,480 single nucleotide polymorphism (SNP) markers for constructing a high-resolution genetic map of 1,096 cM for watermelon. We assessed the genome-wide variation in recombination rate (GWRR) across the map and found an association between GWRR and genome-wide nucleotide diversity. Colinearity ...
Joerg H H School of Agricultural, Forest and Food Sciences, Bern University of Applied Sciences, Länggasse 85, 3052, Zollikofen, - - 2014
Supernumerary teats represent a common abnormality of the bovine udder. A genome-wide association study was performed based on the proportion of the occurrence of supernumerary teats in the daughters of 1097 Holstein bulls. The heritability of caudal supernumerary teats without mammary gland in this study was 0.604. The largest proportion ...
Poursarebani Naser N Leibniz Institute of Plant Genetics and Crop Plant Research (IPK), Gatersleben, - - 2014
Fluorescence in situ hybridization (FISH) has been an efficient way for integrating physical and genetic maps of various small genomes like rice, sorghum and Brachypodium; whereas in the large genomes like barley, the repetitive nature of the genome complicates the generation and detection of single-copy FISH probes. Here, we used ...
Jarmuz-Szymczak Malgorzata M Institute of Human Genetics, Polish Academy of Sciences, ul. Strzeszynska 32, 60-479, Poznan, Poland, - - 2014
Despite that Robertsonian translocations (ROBs) are the most common chromosomal rearrangements in humans (1/1000 individuals), an exact breakpoint and the molecular mechanisms leading to their formation are still not well known. This is partly due to the fact that Human Genome Project did not provide any map or sequence for ...
Parker Clarissa C CC Department of Psychology and Program in Neuroscience, Middlebury College, Middlebury, Vermont - - 2014
Genetic influences on anxiety disorders are well documented; however, the specific genes underlying these disorders remain largely unknown. To identify quantitative trait loci (QTL) for conditioned fear and open field behavior, we used an F2 intercross (n = 490) and a 34th-generation advanced intercross line (AIL) (n = 687) from ...
Dueck Lucy A LA Savannah River Ecology Laboratory, P.O. Drawer E, Aiken, South Carolina 29802 - - 2014
• Spiranthes is a genus of small terrestrial orchids that are most diverse in North America, yet unusually cosmopolitan, including many of conservation concern. Taxonomy based on morphology alone is problematic, but molecular evidence could help resolve evolutionary relationships within the genus. The phylogeny of Spiranthes was reconstructed to evaluate ...
Xu Ling - - 2014
BackgroundGray leaf spot (GLS) caused by Cercospora zeae-maydis (Czm) or Cercospora zeina (Cz) is a devastating maize disease and results in substantial yield reductions worldwide. GLS resistance is a quantitatively inherited trait. The development and cultivation of GLS-resistant maize hybrids are the most cost-effective and efficient ways to control this ...
Feng Xiu X State Key Laboratory of Freshwater Ecology and Biotechnology, Institute of Hydrobiology, Chinese Academy of Sciences, Wuhan, 430072, China, - - 2014
Gene-centromere (G-C) mapping provides insights into the understanding of the composition, structure, and evolution of vertebrate genomes. Common carp (Cyprinus carpio) is an important aquaculture fish and has been proposed to undertake tetraploidization. In this study, we selected 214 informative microsatellite markers across 50 linkage groups of a common carp ...
Prashar Ankush A The James Hutton Institute, Invergowrie, Dundee, DD2 5DA, - - 2014
Generation of a dense SNP-based linkage map of a diploid potato population and identification of major QTLs for tuber shape and eye depth on chromosomes 2 and 10. This paper reports the construction of a genetic map of a highly heterozygous full-sib diploid potato population (06H1) based on the use ...
Westerlind Helga H Department of Clinical Neuroscience, Karolinska Institutet, Stockholm, - - 2014
In an attempt to map chromosomal regions carrying rare gene variants contributing to the risk of multiple sclerosis (MS), we identified segments shared identical-by-descent (IBD) using the software BEAGLE 4.0's refined IBD analysis. IBD mapping aims at identifying segments inherited from a common ancestor and shared more frequently in case-case ...
Storchova Zuzana Z Group Maintenance of Genome Stability, Max Planck Institute of Biochemistry, Am Klopferspitz 18, 82152, Martinsried, - - 2014
Eukaryotic organisms maintain karyotypes with constant chromosome number, but polyploid cells that contain more than two sets of chromosomes can be frequently found. On one hand, polyploidization is likely to provide some beneficial effects, as naturally occurring polyploid cells can be readily found. On the other hand, polyploidization profoundly affects ...
Charalsawadi Chariyawan C Department of Pathology, Prince of Songkla University, Songkhla, - - 2014
Autistic spectrum disorder (ASD) is a group of neurodevelopmental disorders characterized by impairments of social interaction, communication and restricted, repetitive and stereotyped patterns of behavior, interests and activities. Frequencies of chromosomal abnormalities in cohorts of individuals with ASD varying between 1.2 and 28.6% have been reported. In this study, we ...
Li Xuehui X Samuel Roberts Noble - - 2014
A genetic linkage map is a valuable tool for QTL mapping, map-based gene cloning, comparative mapping, and whole genome assembly. Alfalfa, one of the most important forage crops in the world, is autotetraploid, allogamous, and highly heterozygous, characteristics that have impeded the construction of a high density linkage map using ...
Fricano Agostino A Parco Tecnologico Padano; Università degli Studi di Milano; Bayer - - 2014
Triticum monococcum (genome A(m)) and Triticum urartu (genome A(u)) are diploid wheats with the first having been domesticated in the Neolithic Era and the second being a wild species. In a germplasm collection rare wild T. urartu lines with the presence of T. monococcum alleles were found. This stimulated our ...
Carmi Shai S Department of Computer Science, Columbia University, New York, NY, 10027, USA. Electronic address: - - 2014
A long genomic segment inherited by a pair of individuals from a single, recent common ancestor is said to be identical-by-descent (IBD). Shared IBD segments have numerous applications in genetics, from demographic inference to phasing, imputation, pedigree reconstruction, and disease mapping. Here, we provide a theoretical analysis of IBD sharing ...
Yakimowski Sarah B SB Department of Botany and Biodiversity Research Centre, University of British Columbia, Vancouver, BC V6T 1Z4, - - 2014
While homoploid hybridization was viewed as maladaptive by zoologists, the possibility that it might play a creative role in evolution was explored and debated by botanists during the evolutionary synthesis. Owing to his synthetic work on the ecological and genetic factors influencing the occurrence and effects of hybridization, G. Ledyard ...
Delmore Kira E KE Department of Zoology, University of British Columbia, 6270 University Blvd, Vancouver, British Columbia, Canada, - - 2014
Migratory divides are contact zones between populations that use different routes to navigate around unsuitable areas on seasonal migration. Hybrids in divides have been predicted to employ intermediate and potentially inferior routes. We provide the first direct test of this hypothesis, using light-level geolocators to track birds breeding in a ...
1 2 3 4 5 6 7 8 9 10 >