Find your PDFs fast.
Welcome to the Pubget Medical Subject Headings (MESH) browser. Click on a topic or subtopic below to explore related papers. In the gold box is the most recent paper about the current MESH term, and below are 20 related papers.
Comparative Genomic Hybridization (0):
Recent article
Comparative Genomic Hybridization
Abstract
We show that constitutionally acquired CGRs share similarities with cancer chromothripsis. In the 17 CGR cases investigated, we observed localization and multiple copy number changes including deletions, duplications, and/or triplications, as well as extensive translocations and inversions. Genomic...
|
PMID: 21925314
PDF is available here.
PDF is available here.
| < More recent | Older article > |
Abstract
We report on a microduplication identified by array-CGH (comparative genomic hybridization) including five contiguous genes (OPHN1, YIPF6, STARD8, EFNB1 and PJA1) and arising de novo in a male presenting a congenital diaphragmatic hernia (CDH). Our case is the second report of EFNB1 duplication asso...
|
PMID: 21782985
PDF is available here.
PDF is available here.
Abstract
We report eight unrelated individuals with intellectual disability and overlapping submicroscopic deletions of 8q21.11 (0.66-13.55 Mb in size). The deletion was familial in one and simplex in seven individuals. The phenotype was remarkably similar and consisted of a round face with full cheeks, a hi...
|
PMID: 21802062
PDF is available here.
PDF is available here.
Abstract
We used high resolution 244K oligonucleotide array in addition to conventional karyotype and molecular (fluorescent in situ hybridization, microsatellite markers analysis) techniques in two independent probands carrying a deletion 13q13 to 13q21. First patient was a 3-year-old girl with mental retar...
|
PMID: 21741501
PDF is available here.
PDF is available here.
Abstract
We report on a boy in whom a 2 Mb deletion in 14q13 was discovered by array CGH. The deletion was a de novo event. The boy presented with asymmetrical growth retardation at birth. There was severe developmental delay with muscular hypotonia and focal epilepsy with apneic episodes progressing to ser...
|
PMID: 21736959
PDF is available here.
PDF is available here.
Abstract
We describe a 3.5 year old girl presenting with short stature, developmental delay, marked muscular hypotonia with ataxia, premature pubarche, and dysmorphic features. A 1.07-1.12Mb-sized de novo microdeletion of chromosome 19p13.11 is most likely the cause for the clinical phenotype. The patient di...
|
PMID: 21700002
PDF is available here.
PDF is available here.
Abstract
Stage II colon cancers of patients who had relapse of disease showed significantly more losses on chromosomes 4, 5, 15q, 17q and 18q. In the microsatellite stable (MSS) subgroup (n = 28), only loss of chromosome 4q22.1-4q35.2 was significantly associated with disease relapse (P < 0.05, FDR...
|
PMID: 21717218
PDF is available here.
PDF is available here.
Abstract
We identified an ∼896 kb deletion of TGFBR2 in a 20-month-old female with microcephaly and global developmental delay, but no stigmata of LDS. FISH analysis showed no evidence of this deletion in the parental peripheral blood samples; however, somatic mosaicism was detected using PCR in the patern...
|
PMID: 21567932
PDF is available here.
PDF is available here.
Cancer Genetics (204)6 2011
Abstract
We describe a young woman who fulfilled the clinical and biochemical criteria for MEN1 syndrome, but DNA sequencing did not indicate any MEN1 mutations. She developed a prolactin-secreting pituitary macroadenoma, primary hyperparathyroidism with parathyroid hyperplasia, pancreatic lesions, and two s...
|
PMID: 21763627
PDF is available here.
PDF is available here.
Abstract
Childhood pilocytic astrocytoma is the most frequent brain tumor affecting children. Proteomics analysis is currently considered a powerful tool for global evaluation of protein expression and has been widely applied in the field of cancer research. In the present study, a series of...
|
PMID: 21466243
PDF is available here.
PDF is available here.
Abstract
We identified four distinct genetic subtypes in 13 GBMOs: an "astrocytic" subtype (9/13) characterized by +7/-10; an "oligodendroglial" subtype with -1p/-19q (1/13); an "intermediate" subtype showing +7/-1p (1/13), and an "other" subtype having none of the former aberrations typical for gliomas (2/1...
|
PMID: 21538026
PDF is available here.
PDF is available here.
Clinical Cancer Research (17)12 2011
Abstract
We present here the discovery of non-ossified bone metastases from multiple patients with advanced prostate cancer and their subsequent characterization and comparison to non-osseous metastases from the same patients CONCLUSION: This represents a versatile and practical approach that may be employed...
|
PMID: 21555375
PDF is available here.
PDF is available here.
Abstract
We did not recommend resection of both lymph node regions and chose instead to follow-up with regular whole-body MRI and adjuvant treatment with pegylated interferon. Treatment decisions for atypical Spitz tumors are a major medical and ethical challenge due to the limited available data....
|
PMID: 21489908
PDF is available here.
PDF is available here.
Rinsho Ketsueki (52)4 2011
Abstract
Abstract
We describe the genomic comparison of 18 strains of L. sakei originating mainly from processed meat against the 23K strain by comparative genome hybridization. Pulsed field gel electrophoresis was used to estimate the genome sizes of the strains, which varied from 1.880 to 2.175 Mb, and the 23K gen...
|
PMID: 21369871
PDF is available here.
PDF is available here.
Abstract
We have analyzed the expression of TRIM24/TIF-1α, a negative regulator of various transcription factors (including nuclear receptors and p53) at the genomic, mRNA, and protein levels in human breast tumors. In breast cancer biopsy specimens, TRIM24/TIF-1α mRNA levels (assessed by Real-Time Quantit...
|
PMID: 21435435
PDF is available here.
PDF is available here.
Abstract
We studied the biological and genetic characteristics of such cells in CRC cell lines and primary tumors. Three CRC cell lines were sorted in CD133 positive and negative fractions. The respective genetic aberration profiles were studied using array comparative genomic hybridization (aCGH) and expres...
|
PMID: 21435437
PDF is available here.
PDF is available here.
Abstract
We screened 125 primary tumors for RAF fusion genes and mutations in KRAS, NRAS, HRAS, PTPN11, BRAF and RAF1. Using microarray-based comparative genomic hybridization (aCGH), we identified in three cases an interstitial deletion of ~2.5 Mb as a novel recurrent mechanism forming BRAF gene fusions wit...
|
PMID: 21424530
PDF is available here.
PDF is available here.
Clinical Cancer Research (17)6 2011
Abstract
Ovarian clear cell carcinomas (OCCC) are a drug-resistant and aggressive type of epithelial ovarian cancer. We analyzed the molecular genetic profiles of OCCCs to determine whether distinct genomic subgroups of OCCCs exist.
|
PMID: 21411445
PDF is available here.
PDF is available here.
Clinical Cancer Research (17)10 2011
Abstract
To determine the recurring DNA copy number alterations (CNA) in classical Hodgkin lymphoma (HL) by microarray-based comparative genomic hybridization (aCGH) using laser capture microdissected CD30(+) Hodgkin and Reed-Sternberg (HRS) cells.
|
PMID: 21385932
PDF is available here.
PDF is available here.
Cancer Genetics (204)3 2011
Abstract
Despite recent attempts at sub-categorization, including gene expression profiling into prognostically different groups of "germinal center B-cell type" and "activated B-cell type," diffuse large B-cell lymphoma (DLBCL) remains a biologically heterogenous tumor with no clear prognost...
|
PMID: 21504712
PDF is available here.
PDF is available here.
Abstract
Three hypervirulent strains of Mycobacterium tuberculosis isolated from patients suffering from tuberculous meningitis were shown to grow more rapidly inside human macrophages in our previous study. In the current investigation, genomic polymorphisms in these hypervirulent strains were examined using...
|
PMID: 21362467
PDF is available here.
PDF is available here.
Clinical Cancer Research (17)9 2011
Abstract
The chromosomal deletion 11q affects biology and clinical outcome in chronic lymphocytic leukemia (CLL) but del11q-deregulated genes remain incompletely characterized.
|
PMID: 21307146
PDF is available here.
PDF is available here.
Abstract
Abstract
Malignant mesothelioma (MM) is an aggressive tumor with a poor prognosis mainly linked to past asbestos exposure. Murine models of MM based on fiber exposure have been developed to elucidate the mechanism of mesothelioma formation. Genomic alterations in murine MM have now been partially characterize...
|
PMID: 21281820
PDF is available here.
PDF is available here.
Clinical Cancer Research (17)9 2011
Abstract
Impaired JAK2 expression in melanoma cells leads to reduced basal expression of MHC class I APM components and impairs their IFN-gamma inducibility, suggesting that malfunctional IFN-gamma signaling might cause HLA class I abnormalities....
|
PMID: 21248298
PDF is available here.
PDF is available here.
Abstract
Trypanosoma cruzi has a heterogeneous population composed of a pool of strains that circulate in the domestic and sylvatic cycles. Genome sequencing of the clone CL Brener revealed a highly repetitive genome of about 110Mb containing an estimated 22,570 genes. Because of its hybrid nature, sequences...
|
PMID: 21820558
PDF is available here.
PDF is available here.
Abstract
We present a girl with full SMS phenotype. G-banding cytogenetic analysis showed normal 46,XX karyotype. Whole-genome array comparative genomic hybridization (CGH) was performed due to the severity of the phenotype and the unusual features present in the patient. An interstitial deletion in 17p11.2-...
|
PMID: 21614983
PDF is available here.
PDF is available here.
Abstract
Coffin-Lowry syndrome is an X-linked disorder characterized by mental retardation, characteristic facial features, skeletal abnormalities, and tapering fingers. Herein we report a novel missense mutation in exon 7 at codon 180 in the RPS6KA3 gene in a boy with Coffin-Lowry syndrome.
|
PMID: 21614984
PDF is available here.
PDF is available here.
Abstract
We report here a prenatal case with de novo supernumerary marker chromosome originating from chromosome 17 in non-mosaic form resulting in normal pregnancy outcome. In this case, a 26-year-old pregnant woman was referred for amniocenthesis and microdeletion Fluorescence In Situ Hybridization (FISH) t...
|
PMID: 21614990
PDF is available here.
PDF is available here.
Abstract
We review the literature of similar pre- and postnatal cases, in order to identify prognostic factors useful for prenatal counselling. Foetal/parents karyotyping and FISH with whole chromosome 1 paint and BAC clone specific for 1q23-32 region were performed. Further 100 Kb resolution array-CGH analy...
|
PMID: 21614987
PDF is available here.
PDF is available here.
Abstract
We show that 16q deletions are typically confined to immature anaplastic-blastic tumor elements, while deletions are absent in maturing tumor components. The smallest region of deletion overlap mapped to a 1.8-Mb segment containing the IRXB gene cluster including IRX3, IRX5, and IRX6, of which IRX3...
|
PMID: 20847289
PDF is available here.
PDF is available here.
British Journal of Cancer (103)8 2010
Abstract
The BRCA2 gene is responsible for a high number of hereditary breast and ovarian cancers, and studies of the BRCA2 biological functions are limited by the lack of models that resemble the patient's tumour features. The aim of this study was to establish and characterise a new human breast carcinoma...
|
PMID: 20877358
PDF is available here.
PDF is available here.
Modern Pathology (23)10 2010
Abstract
We performed an integrative study of MET gene at 7q31.2 to elucidate its implication in myxofibrosarcoma. Focused on candidate oncogenes on chromosome 7, 385K array comparative genomic hybridization was used to profile DNA copy number alterations of 12 samples. MET transcript was successfully quanti...
|
PMID: 20639860
PDF is available here.
PDF is available here.
Abstract
We evaluated this method of mutation screening for the two major breast and ovarian cancer susceptibility genes BRCA1 and BRCA2. Screening of these two genes is time-consuming and must include exploration of large rearrangements that represent 5% to 15% of the alterations observed in these genes. To...
|
PMID: 20858050
PDF is available here.
PDF is available here.
Genetics in Medicine (12)10 2010
Abstract
The short arm of chromosome 16 is rich in segmental duplications, predisposing this region of the genome to a number of recurrent rearrangements. Genomic imbalances of an approximately 600-kb region in 16p11.2 (29.5-30.1 Mb) have been associated with autism, intellectual disability, congenital anoma...
|
PMID: 20808231
PDF is available here.
PDF is available here.
Abstract
Gastrointestinal stromal tumors (GISTs) historically were grouped with leiomyosarcomas (LMSs) based on their morphologic similarities; however, recently, GIST was established unequivocally as a distinct type of sarcoma based on its molecular features and response to imatinib treatment.
|
PMID: 20818650
PDF is available here.
PDF is available here.
Anticancer Research (30)9 2010
Abstract
We demonstrate by whole-genome array comparative genomic hybridization (aCGH) and fluorescence in situ hybridisation (FISH) analysis that topoisomerase I deficiency results in chromosome 5p gain in the cervical cancer cell line, HeLa-CCL2. In contrast, chromosome 5p copy number remained unaffected b...
|
PMID: 20944095
PDF is available here.
PDF is available here.
Abstract
We obtained 289 high quality sequences which clustered into 132 unique sequences grouped in 26 contigs and 106 singlets where 49 consisted in A. cerana subtracted library and 83 in A. mellifera. Using BLAST, we found that 85% sequences had counterpart known genes whereas 15% were undescribed. A Gene...
|
PMID: 20346951
PDF is available here.
PDF is available here.
Abstract
We present a female patient with microcephaly and incomplete bilateral cleft lip and palate, whose initial cytogenetic analysis revealed a de novo trisomy 9p. The patient, now 21 years old, has persistent microcephaly, craniofacial and hand anomalies, history of a seizure disorder, and global mental...
|
PMID: 20856024
PDF is available here.
PDF is available here.
Abstract
We present a 7-month-old male infant with cleft palate, developmental delay, and a family history of velopharyngeal insufficiency in whom aCGH array was used to identify a small deletion on the short (p) arm of chromosome 7. This defect, which was also found in the mother, was undetected by chromoso...
|
PMID: 20856054
PDF is available here.
PDF is available here.
Abstract
X-linked mental retardation (XLMR) is a common, clinically complex and genetically heterogeneous disease arising from many mutations along the X chromosome. Although research during the past decade has identified >90 XLMR genes, many more remain uncharacterized. In this study, copy-number variations...
|
PMID: 20613765
PDF is available here.
PDF is available here.
Human Genetics (128)2 2010
Abstract
We identified 47 previously unreported unique CNVs in 45/255 probands. We prioritized ID candidate genes using five bioinformatic gene prioritization web tools. Gene priority lists were created by comparing integral genes from each CNV from our ID cohort with sets of training genes specific either t...
|
PMID: 20512354
PDF is available here.
PDF is available here.
Human Reproduction (25)8 2010
Abstract
Premature ovarian failure (POF) is a heterogeneous disease defined as amenorrhoea for >6 months before age 40, with an FSH serum level >40 mIU/ml (menopausal levels). While there is a strong genetic association with POF, familial studies have also indicated that idiopathic POF may also be geneticall...
|
PMID: 20570974
PDF is available here.
PDF is available here.
Abstract
We identified nuclear factor I/X (NFIX) deletions or nonsense mutation in three sporadic cases of a Sotos-like overgrowth syndrome with advanced bone age, macrocephaly, developmental delay, scoliosis, and unusual facies. Unlike the aforementioned human syndrome, Nfix-deficient mice are unable to gai...
|
PMID: 20673863
PDF is available here.
PDF is available here.
Oncology Reports (24)2 2010
Abstract
Despite its common histology and presentation, oral squamous cell carcinoma (OSCC) is associated with widely varying clinical behaviour and response to therapy. To further elucidate the molecular basis of OSCC, an approach for gene expression analysis termed comparative expressed sequence hybridizat...
|
PMID: 20596623
PDF is available here.
PDF is available here.
Molecular Oncology (4)4 2010
Abstract
We studied gene expression patterns of 31 pure DCIS, 36 pure invasive cancers and 42 cases of mixed diagnosis (invasive cancer with an in situ component) using Agilent Whole Human Genome Oligo Microarrays 44k. Six normal breast tissue samples were also included as controls. qRT-PCR was used for vali...
|
PMID: 20663721
PDF is available here.
PDF is available here.
Genetics in Medicine (12)8 2010
Abstract
We here describe the clinical and cytogenomic correlates of a novel microdeletion/microduplication of 19p13.13.
Among patients referred to the Cytogenetics laboratory for array-based comparative genomic hybridization analysis, we identified four with a deletion and one with a duplication within 19p1...
|
PMID: 20613546
PDF is available here.
PDF is available here.
Genetics in Medicine (12)8 2010
Abstract
We briefly review the characteristics of copy number changes in relation to their clinical relevance. Second, we discuss several published workflow schemes to identify copy number changes putatively contributing to the phenotype, and third, we propose a three-step procedure aiming to rapidly evaluat...
|
PMID: 20734469
PDF is available here.
PDF is available here.
Abstract
We performed karyotype analysis of 33 small cell lung cancer (SCLC) tumors, 13 SCLC cell lines, 19 bronchial carcinoids, and 9 gastrointestinal carcinoids. In contrast to the relatively conserved karyotypes of carcinoid tumors, the karyotypes of SCLC tumors and cell lines were highly aberrant. High...
|
PMID: 20615970
PDF is available here.
PDF is available here.
Cancer Cell (18)1 2010
Abstract
Annotation of prostate cancer genomes provides a foundation for discoveries that can impact disease understanding and treatment. Concordant assessment of DNA copy number, mRNA expression, and focused exon resequencing in 218 prostate cancer tumors identified the nuclear receptor coac...
|
PMID: 20579941
PDF is available here.
PDF is available here.
Abstract
We illustrate the characteristic histologic, immunohistologic, and ultrastructural features of this unique neoplasm. Furthermore, we use array-based comparative genomic hybridization to demonstrate a unique pattern of genomic copy number aberrations in pituicytomas. Tumors were composed of bipolar,...
|
PMID: 20586639
PDF is available here.
PDF is available here.
Abstract
We used a higher-resolution genome-wide screening (next-generation microarrays) comprising 963,331 human sequences (3 kb spacing between probes) for whole genome DNA variation analysis. The objective was to detect cryptic chromosomal imbalances in DD.
Agilent SurePrint G3 microarrays, one million fo...
|
PMID: 20561756
PDF is available here.
PDF is available here.
FEMS Microbiology Letters (308)1 2010
Abstract
Xanthomonas oryzae pathovar oryzae (Xoo) and X. oryzae pv. oryzicola (Xoc) cause bacterial diseases in rice: leaf blight and leaf streak, respectively. Although both the Asian and the African strains of Xoo induce similar symptoms, they are genetically different, with the African Xoo strains being m...
|
PMID: 20487016
PDF is available here.
PDF is available here.
New Zealand Medical Journal (123)1318 2010
Abstract
The traditional understanding of genetic disease, that, with the exception of aneuploidy, it is due primarily to single base pair changes or small deletions and duplications has been challenged over the last decade. This challenge has been spearheaded by increasing evidence of the frequency and sign...
|
PMID: 20651866
PDF is available here.
PDF is available here.
Abstract
Journal of Clinical Oncology (28)19 2010
Abstract
In the screening cohort, age at diagnosis, gain of 1q, and homozygous deletion of CDKN2A comprised the most powerful independent indicators of unfavorable prognosis. In contrast, gains of chromosomes 9, 15q, and 18 and loss of chromosome 6 were associated with excellent survival. On the basis of the...
|
PMID: 20516456
PDF is available here.
PDF is available here.
Abstract
We are becoming increasingly aware of the role played by archaea in the biogeochemical cycling of the elements. Metabolism of metals is linked to fundamental metabolic functions, including nitrogen fixation, energy production, and cellular processes based on oxidoreductions. Comparative genomic anal...
|
PMID: 20455933
PDF is available here.
PDF is available here.
Plant Journal (63)1 2010
Abstract
We utilized the Illumina Solexa platform to sequence cDNA derived from 14 conditions (tissues). The result is a searchable soybean gene expression atlas accessible through a browser (http://digbio.missouri.edu/soybean_atlas). The data provide experimental support for the transcription of 55,616 anno...
|
PMID: 20408999
PDF is available here.
PDF is available here.
Plant Journal (63)1 2010
Abstract
We utilized the Illumina Solexa platform to sequence cDNA derived from 14 conditions (tissues). The result is a searchable soybean gene expression atlas accessible through a browser (http://digbio.missouri.edu/soybean_atlas). The data provide experimental support for the transcription of 55,616 anno...
|
PMID: 20408999
PDF is available here.
PDF is available here.