Methods to detect CNVs in the human genome.

abstract：:In an attempt to analyze the organization of repetitive DNAs in the amphibian genome, 7 microsatellite motifs and a 5S rDNA sequence were synthesized and mapped in the karyotypes of 5 Amolops species. The results revealed nonrandom distribution of the microsatellite repeats, usually in the heterochromatic regions, as ...

journal_title：Cytogenetic and genome research

authors： Liu Y,Song M,Luo W,Xia Y,Zeng X

更新日期：2019-01-01 00:00:00

abstract：:LINE-1 (L1) retrotransposons constitute the dominant category of transposons in mammalian genomes. L1 elements are active in the vast majority of mammals, and only a few cases of L1 extinction have been documented. The only possible case of extinction in primates was suggested for South American spider monkeys. Howeve...

journal_title：Cytogenetic and genome research

authors： Sookdeo A,Ruiz-García M,Schneider H,Boissinot S

更新日期：2018-01-01 00:00:00

abstract：:A hitherto undescribed satellite DNA family (AvaII satDNA) has been isolated and characterised in Eumeces schneideri, a squamate reptile belonging to the family Scincidae. AvaII satDNA is characterised by a monomer length of 208 bp, a GC content of 59% and exhibits a certain degree of CpG methylation. FISH experiments...

journal_title：Cytogenetic and genome research

authors： Giovannotti M,Nisi Cerioni P,Caputo V,Olmo E

更新日期：2009-01-01 00:00:00

abstract：:Early, rapid and reliable diagnosis is of first priority in prenatal medicine. The combination of specific sonographic markers (e.g. nuchal translucency) and biochemical parameters in maternal serum (e.g. free beta-human chorionic gonadotropin, pregnancy-associated plasma protein A), has already dramatically improved ...

journal_title：Cytogenetic and genome research

authors： Stumm M,Wegner RD,Bloechle M,Eckel H

更新日期：2006-01-01 00:00:00

abstract：:Peroxisomes are cell organelles that perform multiple functions in the metabolism of lipids and of reactive oxygen species. They are present in most eukaryotic cells. However, they are believed to be absent in spermatozoa and they have never been described in male germ cells. We have used the immortalized germ cell li...

journal_title：Cytogenetic and genome research

authors： Lüers GH,Schad A,Fahimi HD,Völkl A,Seitz J

更新日期：2003-01-01 00:00:00

abstract：:Xenopus is an important model organism for the study of genome duplication in vertebrates. With the full genome sequence of diploid Xenopus tropicalis available, and that of allotetraploid X. laevis close to being finished, we will be able to expand our understanding of how duplicated genes have evolved. One of the ke...

journal_title：Cytogenetic and genome research

authors： Kwon T

更新日期：2015-01-01 00:00:00

abstract：:The most common type of karyotype abnormality detected in infertile subjects is represented by Klinefelter's syndrome, and the most frequent non-chromosomal alteration is represented by Y chromosome long arm microdeletions. Here we report our experience and a review of the literature on sperm sex chromosome aneuploidi...

journal_title：Cytogenetic and genome research

authors： Ferlin A,Garolla A,Foresta C

更新日期：2005-01-01 00:00:00

abstract：:We analyzed the DNA amount in X and B chromosomes of 2 XX/X0 grasshopper species (Eyprepocnemis plorans and Locusta migratoria), by means of Feulgen image analysis densitometry (FIAD), using previous estimates in L. migratoria as standard (5.89 pg). We first analyzed spermatids of 0B males and found a bimodal distribu...

journal_title：Cytogenetic and genome research

authors： Ruiz-Ruano FJ,Ruiz-Estévez M,Rodríguez-Pérez J,López-Pino JL,Cabrero J,Camacho JP

更新日期：2011-01-01 00:00:00

abstract：:In rye each B chromosome (B) represents 5.5% of the diploid A genome. Rye Bs have several nuclear to whole plant effects although they seem to bear no genes except for the ones that lead to their maintenance within a population. In this context, and considering that rye Bs are enriched in repetitive non-coding regions...

journal_title：Cytogenetic and genome research

authors： Delgado M,Caperta A,Ribeiro T,Viegas W,Jones RN,Morais-Cecílio L

更新日期：2004-01-01 00:00:00

abstract：:The X chromosomes of the extant equids, in general, share morphology and banding pattern similarities. However, the donkey X is, in part, an exception because of significantly different centromeric index and variant banding patterns in the pericentromeric region. To verify the underlying molecular basis of this differ...

journal_title：Cytogenetic and genome research

authors： Raudsepp T,Lear TL,Chowdhary BP

更新日期：2002-01-01 00:00:00

abstract：:The ability to prepare single-stranded chromosomal target DNA allows innovative uses of FISH technology for studies of chromosome organization. Standard FISH methodologies require functionally single-stranded DNAs in order to facilitate hybridization between the probe and the complementary chromosomal target sequence....

journal_title：Cytogenetic and genome research

authors： Bailey SM,Goodwin EH,Cornforth MN

更新日期：2004-01-01 00:00:00

abstract：:Chromosomal mutagen sensitivity is a common feature of cells from patients with different kinds of cancer. A portion of breast cancer patients also shows an elevated sensitivity to the induction of chromosome damage in cells exposed to ionizing radiation or chemical mutagens. Segregation analysis in families of patien...

journal_title：Cytogenetic and genome research

authors： Speit G,Trenz K

更新日期：2004-01-01 00:00:00

abstract：:The mitotic chromosomes of 4 anuran species were examined by various classical banding techniques and by fluorescence in situ hybridization using a (TTAGGG)n repeat. Large intrachromosomal telomeric sequences (ITSs) were demonstrated in differing numbers and chromosome locations. A detailed comparison of the present r...

journal_title：Cytogenetic and genome research

authors： Schmid M,Steinlein C

更新日期：2016-01-01 00:00:00

abstract：:Stripe rust (Puccinia striiformis tritici (Pst)) is one of the most destructive diseases of wheat in the world. Exploiting and utilizing stripe rust resistance genes of wild species has become an essential strategy for resistance breeding. Psathyrostachyshuashanica Keng ex Kuo is a wild species in Triticeae that has b...

journal_title：Cytogenetic and genome research

authors： Wang Y,Yu K,Xie Q,Kang H,Lin L,Fan X,Sha L,Zhang H,Zhou Y

更新日期：2011-01-01 00:00:00

abstract：:Studies of complete genomes are leading to a new understanding of the biology of mammals and providing ongoing insights into the fundamental aspects of the organization and evolution of biological systems. Comparison of primate genomes can identify aspects of their organization, regulation and function that appeared d...

journal_title：Cytogenetic and genome research

authors： Ryder OA

更新日期：2005-01-01 00:00:00

abstract：:Plant meiosis studies have enjoyed a fantastic boom in recent years with the use of Arabidopsis thaliana as a model not only for molecular genetics and genomics but also for cytogenetics. In this article we describe a new protocol for immunolabelling meiotic proteins that allows the detection of a large range of prote...

journal_title：Cytogenetic and genome research

authors： Chelysheva L,Grandont L,Vrielynck N,le Guin S,Mercier R,Grelon M

更新日期：2010-07-01 00:00:00

abstract：:Nicotiana rustica (2n = 4x = 48) is a natural allotetraploid composed of P and U genomes which are closely related to genomes of diploid species N. paniculata and N. undulata. Genomic in situ hybridization (GISH) also confirms that the diploid parents, or close relatives, are the ancestors of N. rustica. In order to s...

journal_title：Cytogenetic and genome research

authors： Lim KY,Matyasek R,Kovarik A,Fulnecek J,Leitch AR

更新日期：2005-01-01 00:00:00

abstract：:A 5-year-old river buffalo cow underwent cytogenetic investigation since it had only one male offspring, apparently with normal body constitution, which died one month after birth. The female carrier had normal body conformation and internal sex adducts, as revealed by rectal palpation performed by a specialist veteri...

journal_title：Cytogenetic and genome research

authors： Di Meo GP,Perucatti A,Genualdo V,Iannuzzi A,Sarubbi F,Caputi-Jambrenghi A,Incarnato D,Peretti V,Vonghia G,Iannuzzi L

更新日期：2011-01-01 00:00:00

abstract：:A reduction in recombination in the pseudoautosomal region is associated with an increased frequency of aneuploid 24,XY human sperm. Similarly, individuals with paternally derived Klinefelter syndrome (47,XXY) also have a paucity of recombination in the chromosomes that have undergone nondisjunction. Meiotic studies u...

journal_title：Cytogenetic and genome research

authors： Martin RH

更新日期：2005-01-01 00:00:00

abstract：:We describe the case of a male newborn with ring chromosome 13 found to have dysmorphic features, growth retardation, imperforate anus, and ambiguous genitalia. An initial karyotype showed 46,XY,r(13)(p13q34) in the 30 cells analyzed. SNP microarray from peripheral blood revealed not only an 8.14-Mb 13q33.2q34 deletio...

journal_title：Cytogenetic and genome research

authors： Kaylor J,Alfaro M,Ishwar A,Sailey C,Sawyer J,Zarate YA

更新日期：2014-01-01 00:00:00

abstract：:1q44 deletion is a rare syndrome associated with facial dysmorphism and developmental delay, in particular related with expressive speech, seizures, and hypotonia (ORPHA:238769). Until today, the distinct genetic causes for the different symptoms remain not entirely clear. We present a patient with a 2.3-Mb 1q44 delet...

journal_title：Cytogenetic and genome research

authors： Lloveras E,Canellas A,Barranco L,Alves C,Vila-Real M,Ventura V,Fernández D,Mendez B,Piqué M,Reis-Lima M,de la Iglesia C,Palau N,Costa M,Yeste D,Auge M,Perez C

更新日期：2019-01-01 00:00:00

abstract：:In addition to their location at terminal positions, telomeric-like repeats are also present at internal sites of the chromosomes (intrachromosomal or interstitial telomeric sequences, ITSs). According to their sequence organization and genomic location, two different kinds of ITSs can be identified: (1) heterochromat...

journal_title：Cytogenetic and genome research

authors： Ruiz-Herrera A,Nergadze SG,Santagostino M,Giulotto E

更新日期：2008-01-01 00:00:00

abstract：:The molecular structure of the exceptional telomeres of six plant species belonging to the order Asparagales and two species of the order Liliales was analyzed using Southern blot and fluorescence in situ hybridization. Three different situations were found, namely: i) In the two Liliales species, Tulipa australis (Li...

journal_title：Cytogenetic and genome research

authors： de la Herrán R,Cuñado N,Navajas-Pérez R,Santos JL,Ruiz Rejón C,Garrido-Ramos MA,Ruiz Rejón M

更新日期：2005-01-01 00:00:00

abstract：:Osteosarcomas are primary tumors of bone that most often develop in adolescents. They are characterized by complex genomic changes including amplifications, deletions, and translocations. The chromosome region 17p11.2p12 is frequently amplified in human high grade osteosarcomas (25% of cases), suggesting the presence ...

journal_title：Cytogenetic and genome research

authors： Both J,Wu T,Ten Asbroek AL,Baas F,Hulsebos TJ

更新日期：2016-01-01 00:00:00

abstract：:The sense of taste is a chemosensory system responsible for basic food appraisal. Humans distinguish between five primary tastes: bitter, sweet, sour, salty and umami. The molecular events in the perception of bitter taste are believed to start with the binding of specific water-soluble molecules to G-protein-coupled ...

journal_title：Cytogenetic and genome research

authors： Conte C,Ebeling M,Marcuz A,Nef P,Andres-Barquin PJ

更新日期：2002-01-01 00:00:00

abstract：:Geckos (Gekkota) are a highly diversified group of lizards with an exceptional diversity in sex-determining systems. Despite this intriguing documented variability, data on sex determination in many lineages is still scarce. Here, we document the previously overlooked heteromorphic ZZ/ZW sex chromosomes in the thick-t...

journal_title：Cytogenetic and genome research

authors： Pokorná M,Rens W,Rovatsos M,Kratochvíl L

更新日期：2014-01-01 00:00:00

abstract：:The article reviews the existing methods of multicolor FISH on nuclear targets, first of all, interphase chromosomes. FISH proper and image acquisition are considered as two related components of a single process. We discuss (1) M-FISH (combinatorial labeling + deconvolution + wide-field microscopy); (2) multicolor la...

journal_title：Cytogenetic and genome research

authors： Walter J,Joffe B,Bolzer A,Albiez H,Benedetti PA,Müller S,Speicher MR,Cremer T,Cremer M,Solovei I

更新日期：2006-01-01 00:00:00

abstract：:The ChickRH6 radiation hybrid panel has been used to construct consensus chromosome radiation hybrid (RH) maps of the chicken genome. Markers genotyped were either from throughout the genome or targeted to specific chromosomes and a large proportion (one third) of data was the result of collaborative efforts. Altogeth...

journal_title：Cytogenetic and genome research

authors： Morisson M,Denis M,Milan D,Klopp C,Leroux S,Bardes S,Pitel F,Vignoles F,Gérus M,Fillon V,Douaud M,Vignal A

更新日期：2007-01-01 00:00:00

abstract：:In the past few years high throughput methods for assessment of DNA copy number alterations have witnessed rapid progress. Both 'in house' developed BAC, cDNA, oligonucleotide and commercial arrays are now available and widely applied in the study of the human genome, particularly in the context of disease. Cancer cel...

journal_title：Cytogenetic and genome research

authors： Michels E,Vandesompele J,Hoebeeck J,Menten B,De Preter K,Laureys G,Van Roy N,Speleman F

更新日期：2006-01-01 00:00:00

abstract：:An interstitial constriction located on the long arm of rye chromosome 5R (5RL) shows neocentromeric activity at meiosis. In some meiocytes this region is strongly stretched orienting with the true centromere to opposite poles at metaphase I, and keeping sister chromatid cohesion at anaphase I. We found previously tha...

journal_title：Cytogenetic and genome research

authors： Cuacos M,González-García M,González-Sánchez M,Puertas MJ,Vega JM

更新日期：2011-01-01 00:00:00