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Li Yilin Y Key Laboratory of Carcinogenesis and Translational Research (Ministry of Education), Department of GI Oncology, Peking University Cancer Hospital & Institute, Beijing 100142, - - 2014
Karyotyping and phenotyping of circulating tumor cells (CTCs) in therapeutic cancer patients is of particular clinical significance in terms of both identifying chemo-resistant CTC subtypes and understanding CTC evolution. The integrated subtraction enrichment (SET) and immunostaining-fluorescence in situ hybridization (iFISH) platform was applied to detect and characterize CTCs in patients ...
Stevens Servi J C SJ Department Clinical Genetics, Maastricht University Medical Center, Maastricht, The - - 2014
We identified an identical and recurrent 9.4-Mbp deletion at chromosome bands 2p11.2-2p12, which occurred de novo in two unrelated patients. It is flanked at the distal and proximal breakpoints by two homologous segmental duplications consisting of low copy repeat (LCR) blocks in direct orientation, which have >99% sequence identity. Despite ...
Vanhapiha Nelli N Tampere Center for Child Health Research, University of Tampere Medical School and Tampere University Hospital, Tampere, - - 2014
Williams syndrome (WS) is a relatively rare multisystem neurodevelopmental disorder caused by a hemizygous deletion of contiguous genes on chromosome 7q11.23. Although WS does not predispose carriers to cancers, alterations of chromosome 7 are common in several human neoplasms. We report here a patient with WS and two different cancers, ...
Linos Konstantinos K Department of Pathology and Laboratory Medicine, Emory University, Atlanta, - - 2014
Low Grade Fibromyxoid Sarcoma (LGFMS), first reported by Evans in 1987, is a rare deceptively bland-looking fibroblastic sarcoma that typically arises either in the deep soft tissues of the proximal extremities or of the trunk of young adults(1) . It has a protracted clinical course characterized by local recurrences and ...
Sung Chang Ohk - - 2013
High-grade serous ovarian cancer (HGS-OvCa), the most common epithelial ovarian cancer, is very complex and heterogeneous at the molecular level. The identification of intrinsic HGS-OvCa subgroups characterized by specific molecular alterations and aggressive behavior could improve patient treatment. High-resolution copy number data for 560 HGS-OvCa patients and gene expression data ...
Uz Burak B Hacettepe University Medical School, Department of Internal Medicine, Division of Hematology, Ankara, - - 2013
Additional chromosomal abnormalities in acute myelogenous leukemia have been identified as one of the most important prognostic factors. Favorable chromosomal changes such as t(8;21), inv(16), and t(15;17) are associated with higher rates of complete remission and event-free survival. Translocation (15;17) characterizes acute promyelocytic leukemia (APL) (French-American-British class M3) in almost ...
Izumiyama-Shimomura Naotaka - - 2013
PURPOSE: Evaluation of the relationships existing among 3 histologic types of urothelial tumors, chromosomal instability, and telomere length. PATIENTS AND METHODS: We examined 37 consecutive cases of papillary urothelial neoplasm, from which 26 (70.3%) were suitable for karyotype analysis, comprising 7 papillary urothelial neoplasms of low malignant potential (PUNLMPs), 10 ...
García-Peláez B - - 2013
OBJECTIVE: To assess the value of the study of chromosomal alterations by fluorescent in situ hybridization in a series of patients diagnosed of urothelial carcinoma and a minimum follow up of twenty four months, as well as evaluate its putative predictive potential. MATERIAL AND METHODS: The overall series includes 338 ...
Valcárcel David - - 2013
PURPOSEComplex karyotype (CK) is the poorest risk factor in patients with myelodysplastic syndrome (MDS). It has recently been reported that monosomal karyotype (MK) worsens the prognosis of patients with CK. PATIENTS AND METHODSWe analyzed 1,054 adult patients with MDS with an abnormal karyotype from the Spanish Registry of MDS. The ...
Jabbour Elias E Department of Leukemia, The University of Texas M.D. Anderson Cancer Center, Houston, TX 77030, USA. - - 2012
Chronic Myeloid Leukemia (CML) is a myeloproliferative neoplasm with an incidence of one-two cases per 100,000 adults and accounts for ∼15% of newly diagnosed cases of leukemia in adults. CML is characterized by a balanced genetic translocation, t(9;22)(q34;q11.2), involving a fusion of the Abelson oncogene (ABL) from chromosome 9q34 with ...
Mazloumi Seyed Hashem Mir - - 2012
This cytogenetic study detects a wide variety of common, rare and novel chromosomal abnormalities in patients with hematological disorders, providing valuable diagnostic and prognostic information. We addressed the utility of the cytogenetic technique in 50 patients of pediatric acute leukemia prospectively. Successful cultures were found in 44 patients (88%) and ...
Ramírez-Bahena Martha Helena - - 2012
Bacterial genomic architectures are complex and play important roles in genome evolution. While most bacterial lineage genomes contain a single chromosome often accompanied by plasmids, more and more genomes are described as harboring a linear or a second chromosome. Thus, the development of bacterial genomics leads to the study of ...
Nicolas S D - - 2012
Chromosome rearrangements are common, but their dynamics over time, mechanisms of occurrence and the genomic features that shape their distribution and rate are still poorly understood. We used allohaploid Brassica napus (AC, 2n=19) as a model to analyze the effect of different genomic features on the formation and diversity of ...
Logue Mark W - - 2012
Replication has been difficult to achieve in linkage studies of psychiatric disease. Linkage studies of panic disorder have indicated regions of interest on chromosomes 1q, 2p, 2q, 3, 7, 9, 11, 12q13, 12q23, and 15. Few regions have been implicated in more than one study. We examine two samples, the ...
Xia Shengqian - - 2012
A recessive epistatic genic male sterile two-type line, 7365AB (Bnms3ms3ms4msRrfRf/BnMs3ms3ms4ms4RfRf), combined with the fertile interim-maintainer 7365C (Bnms3ms3ms4ms4rfrf) is an effective pollination control system in hybrid rapeseed production. We report an effective strategy used to fine map BnMs4 and BnRf. The two genes were both defined to a common microsyntenic region ...
Tabet Anne-Claude - - 2012
The pericentromeric region of chromosome 16p is rich in segmental duplications that predispose to rearrangements through non-allelic homologous recombination. Several recurrent copy number variations have been described recently in chromosome 16p. 16p11.2 rearrangements (29.5-30.1 Mb) are associated with autism, intellectual disability (ID) and other neurodevelopmental disorders. Another recognizable but less ...
Ding Guangda - - 2012
One of the key targets of breeding programmes in rapeseed (Brassica napus) is to develop high-yield varieties. However, the lack of available phosphorus (P) in soils seriously limits rapeseed production. The aim of this study was to dissect the genetic control of seed yield and yield-related traits in B. napus ...
Maenner Sylvain - - 2012
A large part of higher eukaryotic genomes is transcribed into RNAs lacking any significant open reading frame. This "non-coding part" has been shown to actively contribute to regulating gene expression, but the mechanisms are largely unknown. Particularly instructive examples are provided by the dosage compensation systems, which assure that the ...
Filges Isabel - - 2012
Array genomic hybridization (AGH) has recently been implemented as a diagnostic tool for the detection of submicroscopic copy number variants (CNVs) in patients with developmental disorders. However, there is no consensus regarding the choice of the platform, the minimal resolution needed and systematic interpretation of CNVs. We report our experience ...
Hung Chia-Cheng - - 2012
Trisomy 12p syndrome is a rare chromosomal abnormality, which presents with facial dysmorphism, moderate to severe psychomotor retardation and generalized hypotonia. Here we present the prenatal sonographic findings investigated of a fetus in prenatal diagnosis with a de novo trisomy of 12p identified by array-comparative genomic hybridization (aCGH).
Xu G H - - 2012
Diploid Thinopyrum elongatum, a wild relative of wheat, contains many agronomically desirable traits and has potential for increasing genetic variability and introducing desirable characters in this crop. Few molecular markers are available for rapid screening of T. elongatum genome segments in the wheat genetic background. We used 36 RAPD primers ...
Hersmus Remko - - 2012
Disorders of sex development (DSD) are defined as a congenital condition in which development of chromosomal, gonadal or anatomical sex is atypical. DSD patients with gonadal dysgenesis or hypovirilization, containing part of the Y chromosome (GBY), have an increased risk for malignant type II germ cell tumors (GCTs: seminomas and ...
Palumbo Orazio - - 2012
Chromosomal imbalances, recognized as the major cause of mental retardation, are often due to submicroscopic deletions or duplications not evidenced by conventional cytogenetic methods. To date, interstitial deletion of long arm of chromosome 2 have been reported for more than 100 cases, although studies reporting small interstitial deletions involving the ...
Corpas Manuel - - 2012
Many patients suffering from developmental disorders have submicroscopic deletions or duplications affecting the copy number of dosage-sensitive genes or disrupting normal gene expression. Many of these changes are novel or extremely rare, making clinical interpretation problematic and genotype/phenotype correlations difficult. Identification of patients sharing a genomic rearrangement and having phenotypes ...
Sakamoto Sachiko - - 2012
Patients with hematologic malignancies are immunosuppressive and may develop cutaneous or invasive infections as a primary sign of immune suppression. Acute promyelocytic leukemia (acute myeloid leukemia M3) is caused by translocation of reciprocal chromosomal rearrangement t(15;17), which produces an oncogenic protein. We herein describe a 71-year-old man having cellulitis with ...
Yoshioka Ken-Ichi - - 2012
Cancer is a disease associated with genomic instability and mutations. Excluding some tumors with specific chromosomal translocations, most cancers that develop at an advanced age are characterized by either chromosomal or microsatellite instability. However, it is still unclear how genomic instability and mutations are generated during the process of cellular ...
Baran Yusuf - - 2012
Chronic myeloid leukemia (CML) is a malignant disease that originates in the bone marrow and is designated by the presence of the Philadelphia (Ph+) chromosome, a translocation between chromosomes 9 and 22. Targeted therapy against CML commenced with the development of small-molecule tyrosine kinase inhibitors (TKIs) exerting their effect against ...
Seeherunvong Tossaporn - - 2012
Translocation of the SRY gene to the paternal X chromosome is the explanation for testis development in the majority of subjects with 46,XX testicular disorder of sexual development (DSD). However, nearly all subjects with 46,XX ovotesticular DSD and up to one third of subjects with 46,XX testicular DSD lack SRY. ...
Echeverry Maria C - - 2012
African trypanosomes belong to a eukaryotic lineage which displays many unusual genetic features. The mechanisms of chromosome segregation in these diploid protozoan parasites are poorly understood. Centromeres in Trypanosoma brucei have been localised to chromosomal regions that contain an array of ~147 bp AT-rich tandem repeats. Initial estimates from the ...
Korbolina Elena E - - 2012
Age-related macular degeneration (AMD) and cataract are common age-related diseases in humans. Previously we showed that senescence-accelerated OXYS rats develop retinopathy and cataract, which are comparable to human AMD and senile cataract. Here we focused on the identification of quantitative trait loci (QTLs), which affect early-onset cataract and retinopathy in ...
Malacarne Giulia - - 2012
Plants have followed a reticulate type of evolution and taxa have frequently merged via allopolyploidization. A polyploid structure of sequenced genomes has often been proposed, but the chromosomes belonging to putative component genomes are difficult to identify. The 19 grapevine chromosomes are evolutionary stable structures: their homologous triplets have strongly ...
Imataka George - - 2012
Spectral karyotyping is a novel technique for chromosome analysis that has been developed based on the approach of the fluorescence in situ hybridization technique. Spectral karyotyping makes it feasible to diagnose a variety of diseases, because of its technology in painting each of the 24 human chromosomes with different colors. ...
Mank Judith E - - 2012
Although sex chromosomes have been the focus of a great deal of scientific scrutiny, most interest has centred on understanding the evolution and relative importance of X and Z chromosomes. By contrast, the sex-limited W and Y chromosomes have received far less attention, both because of their generally degenerate nature ...
Sneddon Tam P TP NCBI, National Library of Medicine, National Institutes of Health, Bethesda, MD, - - 2012
Genomic structural variation (SV) can be thought of on a continuum from a single base pair insertion/deletion (INDEL) to large megabase-scale rearrangements involving insertions, deletions, duplications, inversions, or translocations of whole chromosomes or chromosome arms. These variants can occur in coding or noncoding DNA, they can be inherited or arise ...
Sheppard Olivia O Department of Neurodegenerative Disease, UCL Institute of Neurology, Queen Square, London WC1N 3BG, - - 2012
Abnormalities of chromosome copy number are called aneuploidies and make up a large health load on the human population. Many aneuploidies are lethal because the resulting abnormal gene dosage is highly deleterious. Nevertheless, some whole chromosome aneuploidies can lead to live births. Alterations in the copy number of sections of ...
Musacchio Andrea - - 2011
The spindle assembly checkpoint controls cell cycle progression during mitosis, synchronizing it with the attachment of chromosomes to spindle microtubules. After the discovery of the mitotic arrest deficient (MAD) and budding uninhibited by benzymidazole (BUB) genes as crucial checkpoint components in 1991, the second decade of checkpoint studies (2001-2010) witnessed ...
Wang Chuanchao - - 2012
Emperor CAO Cao (155AD-220AD) is one of the most famous persons in Chinese history that had changed the history of East Asia. He claimed to be a descendant of Marquis CAO Can and therefore was of aristocratic ancestry. However, this claim has been suspected for around 1800 years. Here, we ...
Lee Hyung Joo - - 2012
Despite the recent discoveries of and interest in numerous structural variations (SVs)--which include duplications and inversions--in the human and other higher eukaryotic genomes, little is known about the etiology and biology of these SVs, partly due to the lack of molecular tools with which to create individual SVs in cultured ...
Bianchi Ilaria - - 2011
The X chromosome is known to contain the largest number of immune-related genes of the whole human genome. For this reason, X chromosome has recently become subject of great interest and attention and numerous studies have been aimed at understanding the role of genes on the X chromosome in triggering ...
Ravinet Aurélie - - 2011
Oncogenesis is correlated with the occurrence of multiple genomic events allowing cancer cells to acquire new properties, including the capacity of survival and proliferation with down regulated control signals. Among those genomic events, the study of recurrent translocations, particularly common in oncohematology, has allowed for a better understanding of leucemogenesis ...
Kichine Elsa - - 2011
BACKGROUNDRecurrent AZFb deletions on the human Y chromosome are associated with an absence of ejaculated spermatozoa consequent to a meiotic maturation arrest that prevents the progression of germ cells to haploid stages. The extreme rarity of partial deletions has hampered the identification of the AZFb genes required for normal meiotic ...
Massart Annelien - - 2012
Approximately 10%-15% of couples are infertile, and a male factor is involved in almost half of these cases. This observation is due in part to defects in spermatogenesis, and the underlying causes, including genetic abnormalities, remain largely unknown. Until recently, the only genetic tests used in the diagnosis of male ...
Grimwade David - - 2011
The last 4 decades have seen major advances in understanding the genetic basis of acute myeloid leukemia (AML), and substantial improvements in survival of children and young adults with the disease. A key step forward was the discovery that AML cells harbor recurring cytogenetic abnormalities. The identification of the genes ...
Buchbinder David Kyle - - 2011
Familial bone marrow failure has been associated with a variety of chromosomal aberrations. Chromosome 8 abnormalities have been described in association with neoplastic and hematologic disorders; however, to our knowledge, inversion of the long arm of chromosome 8 has not been described in the context of familial bone marrow failure. ...
Brockdorff Neil N Department of Biochemistry, University of Oxford, Oxford, OX1 3QU, UK. - - 2011
Fifty years ago, Mary Lyon hypothesised that one of the two X chromosomes in female mammalian cells is inactivated at random during early embryogenesis and that the inactive X is then stably maintained through all subsequent cell divisions. Although Lyon's hypothesis is now widely regarded as fact, we should not ...
Harton Gary L - - 2012
Infertility in humans is surprisingly common occurring in approximately 15% of the population wishing to start a family. Despite this, the molecular and genetic factors underlying the cause of infertility remain largely undiscovered. Nevertheless, more and more genetic factors associated with infertility are being identified. This review will focus on ...
Zhang Hua - - 2011
Chromosome segment substitution lines (CSSLs) are useful for the precise mapping of quantitative trait loci (QTLs) and dissection of the genetic basis of complex traits. In this study, two whole-genome sequenced rice cultivars, the japonica Nipponbare and indica 9311 were used as recipient and donor, respectively. A population with 57 ...
Capelli Leonardo P - - 2011
We describe a novel chromosome microdeletion at 15q26.1 detected by oligo-array-CGH in a 6-year-old girl presenting with global development delay, epilepsy, autistic behavior and facial dysmorphisms. Although these features are often present in Angelman syndrome, no alterations were present in the methylation pattern of the Prader-Willi-Angelman critical region. The deletion ...
Lee Jeannie T - - 2011
The discovery of X-chromosome inactivation (XCI) celebrated its golden anniversary this year. Originally offered as an explanation for the establishment of genetic equality between males and females, 50 years on, XCI presents more than a curious gender-based phenomenon that causes silencing of sex chromosomes. How have the mysteries of XCI ...
Jobanputra Vaidehi - - 2012
Cytogenetic testing using genomic microarrays presents a clinical challenge when data regarding the phenotypic consequences of the genomic alteration are not available. We describe a chromosome 13q32.3 duplication discovered by microarray testing in a fetus with a prenatally detected apparently balanced de novo translocation 46,XY,t(2;13)(q37;q32). Microarray analysis on the fetal ...
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