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Talukder Shyamal - - 2014
BackgroundHigh temperature (heat) stress during grain filling is a major problem in most of the wheat growing areas. Developing heat tolerant cultivars has become a principal breeding goal in the Southern and Central Great Plain areas of the USA. Traits associated with high temperature tolerance can be used to develop ...
Bergmann Frank F Institute of Pathology, University of Heidelberg, Im Neuenheimer Feld 224, D-69120, Heidelberg, Germany, - - 2014
Pancreatic acinar cell carcinomas (PACs) are rare but are distinct aggressive neoplasms that phenotypically differ from pancreatic ductal adenocarcinomas (PDACs) and pancreatic neuroendocrine neoplasms (PNENs). Despite recent work on the genetic changes of PACs, their molecular pathogenesis is still poorly understood. In this study, we focus on a comparative genomic ...
Matsuzaki Kaori K Research Division, Chugai Pharmaceutical Co., Ltd., Gotemba, Shizuoka 412-8513, - - 2014
Heat-shock protein 90 (HSP90) is a promising druggable target for therapy of conditions including cancer, renal disease, and chronic neurodegenerative diseases. Despite the possible beneficial effects of HSP90 inhibitors, some of these agents present a genotoxicity liability. We have examined the mode of action of micronucleus formation in TK6 cells ...
Blondeel E E Department of Cytogenetics, Foetal Pathology, Obstetrics and Gynecology, Poissy Saint-Germain-en-Laye Hospital Poissy, France ; Versailles Saint-Quentin-en-Yvelines University Versailles, - - 2014
Translocations between X and acrocentric chromosomes are rare. We report on the inheritance of a familial t(X;15)(p22.3;p10) translocation in a fetus referred for short long bones. Cytogenetic analysis revealed an unbalanced translocation combined with a three-gene nullosomy. After genetic counseling, a prognosis was established and a healthy boy was delivered.
Mete Ozgur - - 2012
Pituitary adenomas exhibit a wide range of behaviours. The prediction of aggressive or malignant behavior in pituitary adenomas remains challenging; however, the utility of biomarkers is rapidly evolving. In this review, we discuss potential biomarkers as they relate to aggressive behavior in pituitary adenomas. While detailed histological subtyping remains the ...
Askora Ahmed - - 2012
Since the discovery of the integration mechanism of the filamentous phage CTXϕ of Vibrio cholerae, integrating filamentous phages have been discovered to be more abundant and diverse than previously recognized. However, the integration systems of filamentous phages have not been fully investigated. The present review provides a short overview on ...
McGranahan Nicholas - - 2012
Chromosomal instability (CIN)-which is a high rate of loss or gain of whole or parts of chromosomes-is a characteristic of most human cancers and a cause of tumour aneuploidy and intra-tumour heterogeneity. CIN is associated with poor patient outcome and drug resistance, which could be mediated by evolutionary adaptation fostered ...
Pfau Sarah J - - 2012
Aneuploidy is frequently associated with disease and developmental abnormalities. It is also a key characteristic of cancer. Several model systems have been developed to study the role of chromosomal instability and aneuploidy in tumorigenesis. The results are surprisingly complex, with the conditions sometimes promoting and sometimes inhibiting tumour formation. Here, ...
Holland Andrew J AJ Ludwig Institute for Cancer Research and Department of Cellular and Molecular Medicine, University of California at San Diego, 9500 Gilman Drive, La Jolla, California 92093-0670, USA. - - 2012
Most solid human tumours are aneuploid, that is, they contain an abnormal number of chromosomes. Paradoxically, however, aneuploidy has been reported to induce a stress response that suppresses cellular proliferation in vitro. Here, we review the progress in our understanding of the causes and effects of aneuploidy in cancer and ...
Becker Kerstin - - 2012
Interstitial 6q deletions can cause a variable phenotype depending on the size and location of the deletion. 6q14 deletions have been associated with intellectual disability and a distinct pattern of minor anomalies, including upslanted palpebral fissures with epicanthal folds, a short nose with broad nasal tip, anteverted nares, long philtrum, ...
Pearce Zachary D - - 2012
We report a patient with clinical anophthalmia, partial eyelid fusion and a hypoplastic socket on the right. The left eye has microphthalmia involving the anterior and posterior segments, microcornea, iris coloboma, chorioretinal dysgenesis, macular dysplasia, absence of retinal vessels, and optic nerve aplasia. Systemic abnormalities include microcephaly, bilateral hearing loss, ...
Pigneur L-M - - 2012
Among the asexual reproductive modes, androgenesis is probably one of the most astonishing and least studied mechanisms. In this 'paternal monopolization', the maternal nuclear genome fails to participate in zygote development and offspring are paternal nuclear clones. Obligate androgenesis is known in only a few organisms, including multiple species of ...
Ponnala R - - 2012
Trisomy 2q is a well-documented chromosomal anomaly with considerable variation in the phenotype depending upon the breakpoints and the co-existing chromosomal aberrations. The case of a dysmorphic male infant found to have trisomy of the 2q31.1-q37.3 segment, resulting from insertion-duplication of this segment in chromosome 18q23 is reported here. The ...
Crotwell Patricia L - - 2012
Whole-genome genetic diagnostics has changed the clinical landscape of pediatric and adolescent medicine. In this article, we review the history of clinical cytogenetics as the field has progressed from studying chromosomes prepared from cells squashed between 2 slides to the high-resolution, whole-genome technology in use today, which has allowed for ...
Laus Ana C - - 2012
Trisomy 16q is a clinically recognizable entity presenting with a wide spectrum of abnormalities. Only five infants with a diagnosis of partial trisomy 16q13 → qter have been previously reported, and all died during the first year of life. We report the clinical and molecular cytogenetic findings in a patient with trisomy ...
Palmer Elizabeth E - - 2012
Chromosomal microarray or molecular karyotype has become the first-line genetic investigation for children with intellectual disability, autistic spectrum disorder or multiple congenital anomalies. Chromosomal microarray increases the detection rate of pathogenic chromosome imbalances including submicroscopic deletions or duplications in patients with undiagnosed intellectual disability to approximately 15% compared with 3% ...
Schmidt Beate - - 2012
We report two unbalanced translocations involving the short arms of chromosomes 7 and 18 due to a balanced translocation 7;18 in the mother. Karyotyping and fluorescence in situ hybridization analysis of the female fetus revealed an unbalanced subtelomeric translocation (karyotype 46,XX,der(18)t(7;18)(p22.3;p11.32)mat resulting in a partial trisomy 7p and a partial ...
Manolakos E - - 2012
13q-syndrome is a rare chromosomal disorder caused by partial deletion of the long arm of chromosome 13 with variable phenotypic presentation. Further sonographic features involve fetal growth restriction, bradycardia, encephalocele, facial dysmorphism and upper extremity deformity. We report a case of 13q-syndrome presenting as increased nuchal translucency diagnosed by chromosome ...
Sifakis Stavros - - 2012
Wolf-Hirschhorn syndrome (WHS) is a well known genetic condition caused by a partial deletion of the short arm of chromosome 4. The great variability in the extent of the 4p deletion and the possible contribution of additional genetic rearrangements lead to a wide spectrum of clinical manifestations. The majority of ...
Jeon Kwon Chan - - 2012
We performed a systematic review of factors affecting parental decisions to continue or terminate a pregnancy after prenatal diagnosis of a sex chromosome abnormality, as reported in published studies from 1987 to May 2011. Based on the Matrix Method for systematic reviews, 19 studies were found in five electronic databases, ...
Jeon Kwon Chan - - 2011
We performed a systematical review of factors affecting parental decisions to continue or terminate a pregnancy after prenatal diagnosis of a sex chromosome abnormality, as reported in published studies from 1987 to May 2011. Based on the Matrix Method for systematic reviews, 19 studies were found in five electronic databases, ...
Marchini Giovanni S - - 2011
Study Type - Aetiology (case series) Level of Evidence 4 What's known on the subject? and What does the study add? Genetic linkage to distinguish loci for VUR has been previously described in several autosomal chromosomes. Although there are numerous explanations for the dissimilar findings, e.g. multifactorial etiology of VUR and ...
Ngim C F - - 2011
We report the unusual case of a dysmorphic child with global developmental delay secondary to a familial complex chromosomal rearrangement (CCR). His chromosomal analysis using G-banding and dual colour fluorescence in situ hybridisation with whole chromosome paint revealed a supernumerary marker chromosome as a result of malsegregation of a familial ...
Duren Dana L DL Department of Community Health, Wright State University Boonshoft School of Medicine, Dayton, OH, USA. - - 2011
Genes play an important role in lifelong skeletal health. Genes that influence bone building during childhood have the potential to affect bone health not only throughout childhood but also into adulthood. Given that peak bone mass is a significant predictor of adult fracture risk, it is imperative that the genetic ...
Evers C - - 2011
Evers C, Heidemann PH, Dunstheimer D, Schulze E, Haag C, Janssen JWG, Fischer C, Jauch A, Moog U. Pseudoautosomal inheritance of Léri-Weill syndrome: what does it mean? The short stature homeobox (SHOX) gene is located in the pseudoautosomal region 1 of both sex chromosomes. Haploinsufficiency of SHOX leads to different ...
Paz-y-Miño César - - 2011
The northeastern Ecuadorian border has undergone aerial spraying with an herbicide mix that contains surfactants and adjuvants, executed by the Colombian Government. The purpose of this study was to diagnose social, health, and genetic aspects of the people affected by glyphosate. For this objective to be achieved, 144 people were ...
Kuznetsova Valentina G - - 2011
The Cimicomorpha is one of the largest and highly diversified infraorders of the Heteroptera. This group is also highly diversified cytogenetically and demonstrates a number of unusual cytogenetic characters such as holokinetic chromosomes; m-chromosomes; multiple sex chromosome systems; post-reduction of sex chromosomes in meiosis; variation in the presence/absence of chiasmata ...
Gijsbers A C J - - 2010
Here we report the clinical and cytogenetic results of a family carrying a cryptic translocation involving chromosome 3pter and 21qter detected by single nucleotide polymorphism array and subtelomeric fluorescent in situ hybridisation analysis. The index patient, with mild mental retardation in combination with minor dysmorphic features, inherited the derivative chromosome ...
Sakata Masaya - - 2010
We used two gametocidal (Gc) chromosomes 2C and 3C(SAT) to dissect barley chromosome 4H added to common wheat. The Gc chromosome induced chromosomal structural rearrangements in the progeny of the 4H addition line of common wheat carrying the monosomic Gc chromosome. We conducted in situ hybridization to select plants carrying ...
Kim Juwon - - 2010
We report a case of a female with SRY-negative XXYp-. The karyotype by the conventional method revealed chromosome 22 with a short arm enlargement. The enlarged short arm contained a heterochromatic region, which was found by the whole chromosome painting method to be a part of the Y chromosome without ...
Phillips Ruth B - - 2010
Very little information is currently available regarding the sites of integration of transgenes in genetically engineered fish. We examined the chromosomal location of growth hormone gene constructs containing GH1 in three different strains of transgenic coho salmon produced by microinjection into pronuclei of fertilized eggs. The constructs were labeled and ...
Choudhury Chitta R - - 2009
Chewing Khaini damages chromosomes, in the form of loss of heterozygosity (LOH), identified on the long arm of chromosome 2 (2q), the short arm of chromosome 3 (3p) and the long arm of chromosome 21 (21q) of oral cancer cases who had quid chewing habit of more than 10 years ...
Ocalewicz K - - 2009
A Robertsonian polymorphism resulting in diploid chromosome number ranging from 59 to 61 and constant chromosome arm number (fundamental number = 104) was observed in the albino rainbow trout (Oncorhynchus mykiss (Walbaum)) from the yellow color strain. In one individual, 90 mitotic chromosomes and 156 chromosome arms were counted, indicating ...
Novas Fernando E - - 2009
Fossils of a predatory dinosaur provide novel information about the evolution of unenlagiines, a poorly known group of dromaeosaurid theropods from Gondwana. The new dinosaur is the largest dromaeosaurid yet discovered in the Southern Hemisphere and depicts bizarre cranial and postcranial features. Its long and low snout bears numerous, small-sized ...
Fehringer Edward V - - 2008
OBJECTIVE: The objective was to determine whether arm and radiographic beam positional changes affect the acromiohumeral interval (AHI) in radiographs of healthy shoulders. MATERIALS AND METHODS: Controlling for participant's height and position as well as radiographic beam height and angle, from 30 right shoulders of right-handed males without shoulder problems ...
Linardic Corinne M - - 2008
Rhabdomyosarcoma (RMS) is the most common soft tissue sarcoma of childhood and adolescence. The predominant histologic variants of this disease are termed embryonal (eRMS) and alveolar (aRMS), based on their appearance under light microscopy. Of the two, aRMS is associated with an more aggressive disease pattern and a higher mortality, ...
Puusepp Helen - - 2008
This report describes a 16-year-old girl with short stature (-5 standard deviations), normal puberty, panic attacks, absence epilepsy, some stigmata of Turner syndrome, and a Madelung deformity. Routine chromosomal analysis revealed a female karyotype with one abnormal chromosome X, with the suspicion of additional material on the short arm. With ...
Brichard Bénédicte - - 2008
We report an infant with normal neurological development and phenotype who developed bilateral retinoblastoma (RB). This patient, despite lack of dysmorphic features, demonstrated constitutional abnormality of the long arm of chromosome 13 on standard karyotype. We recommend systematic cytogenetic examinations complemented by fluorescent in situ hybridization as second-line screening in ...
Mulligan Aisling - - 2008
BACKGROUND: ADHD is a common, heritable disorder of childhood. Sex chromosome abnormalities are relatively rare conditions that are sometimes associated with behavioral disorders. METHOD: The authors present a male child with ADHD and a major de-novo Y chromosome abnormality consisting of deletion of the long arm and duplication of the ...
Hannes F - - 2008
The terminal deletion of the short arm of chromosome 4 causing the Wolf-Hirschhorn syndrome is one of the first pathogenic copy number variations (CNVs) ever described. Since this first discovery, a large number of 4p CNVs causing variable phenotypes have been described. Here, we present an overview on those benign ...
Asghari-Zakaria Rasool - - 2007
The C-banded karyotype of Heteranthelium piliferum species was studied in a natural population from northwest of Iran using aceto-iron-hematoxilin staining and C-banding technique. Chromosome measurements including long arm, short arm and chromosome lengths, arm ratio index, relative chromosome length, heterochromatin percent per chromosome and per chromosome set were made. It ...
Forbes Scott C - - 2007
The purpose of this study was to compare a kayak ergometer protocol with an arm crank protocol for determining peak oxygen consumption (V(.-)O2). On separate days in random order, 10 men and 5 women (16-24 years old) with kayaking experience completed the kayak ergometer protocol and a standardized arm crank ...
Fröhlich Markus G - - 2007
The shielding effect of surrounding arms and chains on the encounter probability of reactive sites located both at the end of a linear chain and at several positions along the arms of star-branched chains with up to six arms is calculated by means of exact enumeration of samples prepared by ...
Malini Suttur S - - 2007
Down syndrome (DS) and sex chromosomal aneuploidy (SA) are common chromosomal anomalies causing congenital malformations and mental retardation in humans. The well-established risk factor, advanced maternal age, was not found in many of the DS and SA cases in India, while the other possible risk factors have not been well ...
Solouki Mahmood - - 2007
Grapevines have Bronze ages archive in Sistan area of Iran. In order to study the genetic variation and taxonomic relationships between 6 cultivars of the Sistan grapevines (Vitis vinifera L.) at molecular level, random amplified polymorphic DNA (RAPD) markers were used. The data were subjected to statistical analyses and genetic ...
Velissariou V - - 2007
Two cases of rare structural aberrations of the Y chromosome were detected: a del(Y) (q12) chromosome in a child with mild dysmorphic features, obesity and psychomotor delay, and two identical satellited Y chromosomes (Yqs) in a normal twin, which were originally observed during routine prenatal diagnosis. In both cases a ...
Ji Yuanfu - - 2007
We determined the relative positions of the tandem-repeat molecular cytogenetic marker B77, translocation breakpoints, and telosome arms in Gossypium hirsutum cytogenetic stocks by fluorescence in situ hybridization (FISH) analysis of meiotic quadrivalents in 16 single and 2 double translocation heterozygotes and five monotelodisomics. Results delimited the B77 FISH locus to ...
Adeyinka Adewale - - 2007
To ascertain the distribution of whole-arm translocations (WATs) and their consequential imbalances in hematologic malignancies, we analyzed the imbalances related to chromosomes involved in clonal, acquired WATs in 140 consecutive tumors with WATs and near-diploid karyotypes. Tumors for analysis were obtained from a survey of the cytogenetic database in the ...
Puvabanditsin S - - 2007
We report a male neonate with a 45 X karyotype; the long arm of a chromosome 15 was translocated onto the proximal long arm of the Y chromosome. Breakpoints were identified by in situ fluorescence hybridization (FISH) on the proximal 15q13 and Yq11.2. The derivative chromosome has no primary centromere. ...
Smigiel Robert - - 2007
Complex chromosomal rearrangements, defined as exchanges between three or more chromosomes, are very rare aberrations in human chromosomal pathology. We present a case of a complex, apparently balanced maternal chromosome rearrangement involving five different chromosomes (1, 4, 10, 12 and 20) and six breakpoints ascertained through a deletion of the ...
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