Abstract
We used high-density 500 K single nucleotide polymorphism (SNP)-arrays to define those chromosomal regions which most commonly harbour copy number (CN) alterations and loss of heterozygozity (LOH) in a series of 20 PDAC tumors and we correlated the corresponding genetic profiles with the most releva...
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PMID: 21811587
PDF is available here.
Abstract
We endeavored to review, decade by decade, the technological developments and conceptual advances of space radiation biology. Despite considerable efforts, the cancer and the toxicity risks remain to be quantified: 1) the nature and the frequency of secondary heavy ions need to be better characteriz...
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PMID: 21436608
PDF is available here.
Abstract
Exposure to environmental, diagnostic, and occupational sources of radiation frequently involves low doses. Although these doses have no immediately noticeable impact on human health there is great interest in their long-term biological effects.
To assess immediate and time-delayed DNA damage in two...
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PMID: 20860496
PDF is available here.
Abstract
The role of acquired chromosomal rearrangements in oncogenesis (cytogenomics) and tumor progression is now well established. These alterations are multiple and diverse and the products of these rearranged genes play an essential role in the transformation and growth of cancer cells....
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PMID: 20599448
PDF is available here.
Abstract
We present a concept, which takes advantage of methods of molecular diagnostics to identify predictive markers at the DNA, mRNA, and protein levels. Markers with prognostic value concerning treatment response and patient survival can then be used as targets to develop optimized drugs. We focus on th...
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PMID: 20486071
PDF is available here.
Abstract
We review the literature on the genetics of child psychiatric disorders, including autism, childhood-onset schizophrenia, attention-deficit/hyperactivity disorder, and Tourette syndrome, with a focus on studies of chromosomal structure.
Over several decades, cytogenetic investigations have led to ke...
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PMID: 20643309
PDF is available here.
Abstract
We reported comprehensive analyses of integrated cytogenetic and linkage maps of homoeologous chromosomes 12A and 12D in allotetraploid cotton using fluorescence in situ hybridization and a large number of bacterial artificial chromosomes that were anchored by simple sequence repeat markers in the c...
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PMID: 20127105
PDF is available here.
Abstract
Since the first description of sympatric sibling species and allopatric chromosomal forms of the common vole (Microtus arvalis group) in 1969, the search of their range boundaries has been Continually going on up to the present time. Based on the cytogenetic material presented in the present study,...
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PMID: 20536021
PDF is available here.
Abstract
We uncover. Understanding the mechanisms of these aberrations to guide additional testing of the parents and genetic counseling of the patients and their families requires the expertise of individuals who are well-versed in meiotic mechanisms and chromosomal structures that may lead to these abnorma...
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PMID: 20217575
PDF is available here.
Abstract
Specific chromosomal alterations are recognized as important prognostic factors in chronic lymphocytic leukemia (CLL). Array-based karyotyping is gaining acceptance as an alternative to the standard fluorescence in situ hybridization (FISH) panel for detecting these aberrations. This study explores...
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PMID: 20075210
PDF is available here.
Abstract
Invasive prenatal diagnostic techniques are feasible tools for confirming fetal chromosomal abnormalities. Abnormal chromosomes detected in one of the parents carrying abnormal chromosome, ultrasound soft markers, advanced maternal age or positive serum screening results were associated with a highe...
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PMID: 20193481
PDF is available here.
Abstract
We describe a case of a 2-year-old female with RSTS who, besides most of the typical features of RSTS has corpus callosum dysgenesis and a Chiari type I malformation which required neurosurgical decompression. CGH microarray showed a approximately 520.7 kb microdeletion on 16p13.3 involving CREBBP,...
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PMID: 20101707
PDF is available here.
Abstract
We reported comprehensive analyses of integrated cytogenetic and linkage maps of homoeologous chromosomes 12A and 12D in allotetraploid cotton using fluorescence in situ hybridization and a large number of bacterial artificial chromosomes that were anchored by simple sequence repeat markers in the c...
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PMID: 20127105
PDF is available here.
Alessandra Trojani,
Marco Montillo,
Michele Nichelatti,
Alessandra Tedeschi,
Chiara Colombo,
Silvio Veronese,
Maria Angela Mura,
Francesca Ricci,
Barbara Scarpati,
Anna Colosimo,
Milena Lodola and
Enrica Morra
Abstract
We identified 30% as being the best-cut-off for 17p-, 11q- and 6q-. In univariate analysis 17p- was found to be a significant predictor of the event only for the whole population. Multivariate analysis including all biological parameters, identified 11q deletion as the only significant regressor....
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PMID: 20164537
PDF is available here.
Alessandra Trojani,
Marco Montillo,
Michele Nichelatti,
Alessandra Tedeschi,
Chiara Colombo,
Silvio Veronese,
Maria Angela Mura,
Francesca Ricci,
Barbara Scarpati,
Anna Colosimo,
Milena Lodola and
Enrica Morra
Abstract
We identified 30% as being the best-cut-off for 17p-, 11q- and 6q-. In univariate analysis 17p- was found to be a significant predictor of the event only for the whole population. Multivariate analysis including all biological parameters, identified 11q deletion as the only significant regressor....
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PMID: 20164537
PDF is available here.
Alessandra Trojani,
Marco Montillo,
Michele Nichelatti,
Alessandra Tedeschi,
Chiara Colombo,
Silvio Veronese,
Maria Angela Mura,
Francesca Ricci,
Barbara Scarpati,
Anna Colosimo,
Milena Lodola and
Enrica Morra
Abstract
We identified 30% as being the best-cut-off for 17p-, 11q- and 6q-. In univariate analysis 17p- was found to be a significant predictor of the event only for the whole population. Multivariate analysis including all biological parameters, identified 11q deletion as the only significant regressor....
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PMID: 20164537
PDF is available here.
Alessandra Trojani,
Marco Montillo,
Michele Nichelatti,
Alessandra Tedeschi,
Chiara Colombo,
Silvio Veronese,
Maria Angela Mura,
Francesca Ricci,
Barbara Scarpati,
Anna Colosimo,
Milena Lodola and
Enrica Morra
Abstract
We identified 30% as being the best-cut-off for 17p-, 11q- and 6q-. In univariate analysis 17p- was found to be a significant predictor of the event only for the whole population. Multivariate analysis including all biological parameters, identified 11q deletion as the only significant regressor....
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PMID: 20164537
PDF is available here.
Alessandra Trojani,
Marco Montillo,
Michele Nichelatti,
Alessandra Tedeschi,
Chiara Colombo,
Silvio Veronese,
Maria Angela Mura,
Francesca Ricci,
Barbara Scarpati,
Anna Colosimo,
Milena Lodola and
Enrica Morra
Abstract
We identified 30% as being the best-cut-off for 17p-, 11q- and 6q-. In univariate analysis 17p- was found to be a significant predictor of the event only for the whole population. Multivariate analysis including all biological parameters, identified 11q deletion as the only significant regressor....
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PMID: 20164537
PDF is available here.
Alessandra Trojani,
Marco Montillo,
Michele Nichelatti,
Alessandra Tedeschi,
Chiara Colombo,
Silvio Veronese,
Maria Angela Mura,
Francesca Ricci,
Barbara Scarpati,
Anna Colosimo,
Milena Lodola and
Enrica Morra
Abstract
We identified 30% as being the best-cut-off for 17p-, 11q- and 6q-. In univariate analysis 17p- was found to be a significant predictor of the event only for the whole population. Multivariate analysis including all biological parameters, identified 11q deletion as the only significant regressor....
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PMID: 20164537
PDF is available here.
Abstract
We also observed connections of nucleolar corpuscles to the nuclear membrane regions where the tail and the acrosome will be formed, suggesting close involvement of the nucleolar material in the formation of these structures. In addition to the nucleolar bodies, we detected silver-positive structure...
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PMID: 20882483
PDF is available here.
Abstract
Five specimens of Rhamdia quelen collected from the Lindóia Stream, PR, Brazil, were cytogenetically analyzed. The diploid chromosome number found was 58, including 30 metacentric, 16 submetacentric, 10 subtelocentric, and 2 acrocentric chromosomes. Supernumerary or B chromosomes, frequently observ...
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PMID: 20882489
PDF is available here.
Abstract
Our results suggest that the common submicroscopic "genomic disorders" (microdeletion and microduplication syndromes) would not be frequently detected in the first trimester anomalies screening.
Copyright 2009 Elsevier Masson SAS. All rights reserved....
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PMID: 20004752
PDF is available here.
Abstract
We report a patient presenting with oculoauriculovertebral spectrum and a de novo balanced reciprocal translocation t(9;18)(p23;q12.2). Physical mapping of the translocation breakpoints by fluorescent in situ hybridization showed that the breakpoints are located in two regions encompassing gene dese...
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PMID: 20132917
PDF is available here.
Abstract
Myelodysplastic syndrome of childhood may present with retinal mass along with other hematologic features. Biopsy/aspiration cytology of the mass should not be attempted as it may cause intraocular hemorrhage....
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PMID: 20037898
PDF is available here.
Gemma Armengol,
Anna Canellas,
Yolanda Alvarez,
Pilar Bastida,
José Sánchez De Toledo,
Maria Del Mar Pérez-Iribarne,
Mireia Camós,
Esperanza Tuset,
Jesús Estella,
María Dolores Coll,
María Rosa Caballín and
Sakari Knuutila
Abstract
We studied a series of 68 subjects diagnosed with childhood acute myeloid leukemia (AML) using conventional cytogenetics and fluorescence in situ hybridization (FISH), polymerase chain reaction (PCR) to analyze mutations in FLT3 and NPM1 genes, and/or array comparative genomic hybridization (CGH). C...
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PMID: 20001230
PDF is available here.
Taimur Sher,
Kena C Miller,
David Lawrence,
Amy Whitworth,
Francisco Hernandez-Ilizaliturri,
Myron S Czuczman,
Austin Miller,
William Lawrence,
Syed Ali Bilgrami,
Raman Sood,
Margaret T Wood,
Annemarie W Block,
Kelvin Lee and
Asher Alban Chanan-Khan
Abstract
Patients with chronic lymphocytic lymphoma (CLL) with high-risk cytogenetics [del(11q)(q22.3) or del(17p)(p13.1)] have limited therapeutic options and their prognosis remains poor. This analysis was conducted to determine the clinical activity of lenalidomide in patients with high-risk disease. Rela...
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PMID: 20055660
PDF is available here.
Abstract
We performed comparative genomic hybridization (CGH) to detect chromosomal copy number changes in a series of 16 rat osteosarcomas induced by injection of plutonium-238. Recurrent gains/amplifications were observed at chromosomal regions 3p12-q12, 3q41-qter, 4q41-qter, 6q12-q16, 7q22-q34, 8q11-q23,...
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PMID: 20505263
PDF is available here.
Abstract
Association of deletion polymorphism in GSTT1 and GSTM1 genes and polymorphic variant A313G of GSTP1 gene with cirrhosis diseases and 4-year survival rate for the Tomsk region (West Siberia) patients were tested. Homozygous deletion of GSTM1 gene (null genotype) was a protective factor for alcoholic...
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PMID: 20608166
PDF is available here.
Abstract
Laboratory testing focused on the genetic basis of disease has become an increasingly important part of the analysis of tissue specimens traditionally evaluated only by histopathologic examination. Molecular laboratory testing in surgical pathology is usually only discussed in the context of its rol...
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PMID: 20446514
PDF is available here.
Helen M HM Knight,
Benjamin S BS Pickard,
Alan A Maclean,
Mary P MP Malloy,
Dinesh C DC Soares,
Allan F AF McRae,
Alison A Condie,
Angela A White,
William W Hawkins,
Kevin K McGhee,
Margaret M van Beck,
Donald J DJ MacIntyre,
John M JM Starr,
Ian J IJ Deary,
Peter M PM Visscher,
David J DJ Porteous,
Ronald E RE Cannon,
David D St Clair,
Walter J WJ Muir and
Douglas H R DH Blackwood
Abstract
We report evidence that the lipid transporter gene ABCA13 is a susceptibility factor for both schizophrenia and bipolar disorder. After the initial discovery of its disruption by a chromosome abnormality in a person with schizophrenia, we resequenced ABCA13 exons in 100 cases with schizophrenia and...
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PMID: 19944402
PDF is available here.
Abstract
The human genome is characterized by structural variations, in addition to having expansive areas of tandem repeat sequences and SNPs. Copy number variations (CNVs) in the human genome are the result of insertions, deletions, duplications and complex multisite variants, affecting approximately 10 to...
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PMID: 20072944
PDF is available here.
Abstract
A combination of karyotyping and aneuploidy analysis by interphase fluorescent in situ hybridization is a sensitive method for evaluation of genetic stability of stem cell cultures. The methodology and specific features of preparing and analyzing the cytogenetic preparations are described as exempli...
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PMID: 20396769
PDF is available here.
Abstract
Abnormal chromosomes were detected in 4 cases (19.1%) of the 21 MM patients with CC. After modified cell culture, abnormal karyotype was detected in 6 cases (28.6%). Abnormal chromosomes were detected in 12 of 18 cases (66.7%) using FISH. Panel FISH disclosed 1q21 amplification in 4 (22.2%), del(13q...
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PMID: 20079209
PDF is available here.
Abstract
We explain in detail the two methods most commonly employed for C. cinereus, staining of intact gill segments and chromosome spreads, with an example of the application of each. We describe iron-hematoxylin staining of intact gill segments for the brightfield examination of meiotic progression, and...
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PMID: 19685322
PDF is available here.
Abstract
Chromosomal abnormalities, including novel chromosome aberrations were detected in 54.48 per cent MDS patients and frequency of chromosomal aberrations increased with increase in age (> or = 30 yr). Among occupational exposure factors, chromosomal aberrations significantly (P<0.05) associated with p...
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PMID: 19797812
PDF is available here.
Abstract
Only 11 (9.5%) of 116 patients with increases in QPCR had CML progression; 10 of them were among 44 patients (23%) who either lost a MMR or never had a MMR, and had more than 1 log increase of QPCR. CONCLUSION: Most patients with increases in QPCR remain in CGCR. Patients who lose a MMR or never ach...
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PMID: 19487383
PDF is available here.
Abstract
To evaluate the clinical value of multiplex ligation-dependent probe amplification (MLPA) technique used in karyotype analysis of chorionic villi from missed abortion.
Feb 2008 to Oct 2008, 91 patients with missed abortion diagnosed by hormonal measurement, type B ultrasound and physical exam matche...
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PMID: 19957550
PDF is available here.
Abstract
We report a case of a patient who has remained untreated for CLL and developed myelodysplastic syndrome (refracter anemia with ringed sideroblasts) six years after the diagnosis of CLL. Development of myelodysplastic syndrome resulted in concurrent attenuation of CLL. Discussion of the pathogenesis...
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PMID: 19362917
PDF is available here.
Abstract
Achene morphs of Picris asplenoides L. and Urospermum picroides L. were investigated in order to gain insight into its genetic variation based on the evidence obtained from karyotype analysis, electrophoretic pattern of achene proteins as well as nucleic acid analysis. In Picris asplenoides L., thre...
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PMID: 19580013
PDF is available here.
Abstract
(1) Patients were divided into two subgroups by a cutoff of 5% residual bone marrow blasts at T1 or T2 time point. Patients with percentage of residual bone marrow blast cells < 5% had better complete remission (CR) rate, relapse-free survival (RFS) and overall survival (OS) than the patients with p...
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PMID: 19576124
PDF is available here.
Abstract
Leiomyosarcoma is a malignant mesenchymal tumor composed of cells showing smooth muscle differentiation. This tumor usually occurs in middle-aged or older adults, and forms a significant percentage of retroperitoneal, vascular, extremity, and uterine sarcomas. Leiomyosarcomas are most often associat...
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PMID: 18649996
PDF is available here.
Abstract
I (MI) of pollen mother cell (PMC) in reciprocal F1 was 40.33I + 0.78II + 0.03III and 40.40I + 0.79II, respectively. All of the F1 plants showed complete male sterility, and the seeds of BC1 were obtained by backcrossing with Chinese Spring pollen. The somatic chromosome numbers in BC1 plants of (R....
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PMID: 19273443
PDF is available here.
Abstract
The rate of FS expression in the patients was considerably higher than in the controls (p < 0.001). Several chromosome regions including 1p36, 1q21, 1q32, 3p25, 7q22, 7q32, 11q23, 12q24, 13q32, 14q24, Xp22 and Xq26 were represented considerably more often in the patients than in the controls (p valu...
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PMID: 19259360
PDF is available here.
Philip A Beer,
Amy V Jones,
Anthony J Bench,
Andrea Goday-Fernandez,
Elaine M Boyd,
Krishna J Vaghela,
Wendy N Erber,
Bassam Odeh,
Christine Wright,
Mary Frances McMullin,
Jonathan Cullis,
Brian J P Huntly,
Claire N Harrison,
Nicholas C P Cross and
Anthony R Green
Abstract
This study looked for clonal diversity in patients with a myeloproliferative neoplasm associated with more than one acquired genetic lesion. A tyrosine kinase mutation and a cytogenetic lesion were present in the same clone in six of seven patients. By contrast, the genetic lesions were present in s...
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PMID: 19170680
PDF is available here.
Abstract
We suggest that, concordant with the WHO classification to be published in 2008, the diagnosis of BL should be restricted to cases with expression of CD10 and BCL6, absence or very weak expression of BCL2 protein, a homogeneously very high proliferation index and a proven IG-MYC translocation withou...
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PMID: 18923440
PDF is available here.
Abstract
We discuss the statistical and computational aspects of radiation biodosimetry for triage in a large scale accident-type situation. The current status of statistical analysis techniques is reviewed and suggestions are made for improvements to these methods which will allow first responders to estima...
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PMID: 19861736
PDF is available here.
Abstract
We describe a rare case of an apparently balanced karyotype of 46, XY, t(1;22;4)(p22.3;q11.1;q31.1) in a infertile male with oligoastenoteratozoospermia (OAT). He was the second patient with complex chromosomal rearrangement (CCR) referred to our center because of infertility. We also review reports...
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PMID: 19193986
PDF is available here.
Abstract
We analyzed online sequence data of mitochondrial and nuclear genes, as well as cytogenetic data and reviewed other genomic characteristics such as toxin genes. After the analysis of the whole-genome and chromosomal organization, we find that: (1) cytogenetic comparisons could provide a useful tool...
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PMID: 20215738
PDF is available here.
Abstract
Extensive karyological, allozyme and molecular genetic analyses of many parthenogenetic lizards confirm the origin of these species by hybridization. The concept of reticulate (hybridogeneous) speciation based on 3 interrelated phenomena such as hybridization-unisexuality-polyploidy has been elabora...
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PMID: 20339288
PDF is available here.
L Rao,
R Turlapati,
M Patel,
B Panda,
D Tosh,
S Mangalipalli,
A Tiwari,
V P Orunganti,
D Rose,
A Anand,
M K Kulashekaran,
S R Priya,
R K Mishra,
K Majumdar,
R K Aggarwal and
L Singh
Abstract
We have established for the first time primary cell cultures from Indian water snake (Natrix piscator) and Indian mugger (Crocodylus palustris) embryos. In the preliminary growth stage, 2 types of cells, fibroblast- and epithelial-like, were found to be attached and proliferating in vitro. These fib...
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PMID: 20339292
PDF is available here.