Genotype-Phenotype Analysis, Neuropsychological Assessment, and Growth Hormone Response in a Patient with 18p Deletion Syndrome.

abstract：:During this study, we analysed the pericentric inversion that distinguishes human chromosome 12 (HSA12) from the homologous chimpanzee chromosome (PTR10). Two large chimpanzee-specific duplications of 86 and 23 kb were observed in the breakpoint regions, which most probably occurred associated with the inversion. The ...

journal_title：Cytogenetic and genome research

authors： Kehrer-Sawatzki H,Sandig CA,Goidts V,Hameister H

更新日期：2005-01-01 00:00:00

abstract：:We have made a set of chromosome-specific painting probes for the American mink by degenerate oligonucleotide primed-PCR (DOP-PCR) amplification of flow-sorted chromosomes. The painting probes were used to delimit homologous chromosomal segments among human, red fox, dog, cat and eight species of the family Mustelidae...

journal_title：Cytogenetic and genome research

authors： Graphodatsky AS,Yang F,Perelman PL,O'Brien PC,Serdukova NA,Milne BS,Biltueva LS,Fu B,Vorobieva NV,Kawada SI,Robinson TJ,Ferguson-Smith MA

更新日期：2002-01-01 00:00:00

abstract：:The T2 family of miniature inverted-repeat transposable elements (T2-MITE) is a prevalent MITE family found in both Xenopus(Silurana) tropicalis and X. laevis. Some subfamilies, particularly T2-A1 and T2-C, may have originated prior to the diversification of the 2 Xenopus lineages and currently include active members ...

journal_title：Cytogenetic and genome research

authors： Hikosaka A,Uno Y,Matsuda Y

更新日期：2015-01-01 00:00:00

abstract：:The discovery of complex structural variations that exist within individual genomes has prompted a need to visualize chromosomes at a higher resolution than previously possible. To address this concern, we established a robust, high-resolution fluorescence in situ hybridization (FISH) method that utilizes probes deriv...

journal_title：Cytogenetic and genome research

authors： Yamada NA,Rector LS,Tsang P,Carr E,Scheffer A,Sederberg MC,Aston ME,Ach RA,Tsalenko A,Sampas N,Peter B,Bruhn L,Brothman AR

更新日期：2011-01-01 00:00:00

abstract：:Integrase (IN) and reverse transcriptase (RT) play a central role in transposition of retroelements. The mechanism of integration by IN and the steps of the replication process mediated by RT are briefly described here. Recently, active recombinant forms of Ty1 IN and RT have been obtained. This has allowed a more det...

journal_title：Cytogenetic and genome research

authors： Wilhelm FX,Wilhelm M,Gabriel A

更新日期：2005-01-01 00:00:00

abstract：:DNA methylation is an essential epigenetic feature for the regulation and maintenance of heterochromatin. Satellite DNA is a repetitive sequence component that often occurs in large arrays in heterochromatin of subtelomeric, intercalary and centromeric regions. Knowledge about the methylation status of satellite DNA i...

journal_title：Cytogenetic and genome research

authors： Schmidt M,Hense S,Minoche AE,Dohm JC,Himmelbauer H,Schmidt T,Zakrzewski F

更新日期：2014-01-01 00:00:00

abstract：:Genetic maps are based on the recombination frequency of molecular markers which often show different positions in comparison to the corresponding physical maps. To decipher the position and order of DNA sequences genetically mapped to terminal and interstitial regions of barley (Hordeum vulgare) chromosome 3H, fluore...

journal_title：Cytogenetic and genome research

authors： Bustamante FO,Aliyeva-Schnorr L,Fuchs J,Beier S,Houben A

更新日期：2017-01-01 00:00:00

abstract：:High density livestock to human comparative maps are necessary for the implementation of comparative positional candidate gene cloning. We have constructed a high-density comparative radiation hybrid (RH) map of the telomeric end of bovine chromosome 2 (BTA2) using a 12,000-rad whole genome cattle-hamster radiation hy...

journal_title：Cytogenetic and genome research

authors： Liu Z,Womack JE,Antoniou E

更新日期：2003-01-01 00:00:00

abstract：:We report on the conventional cytogenetic and fluorescence in situ hybridization (FISH) results obtained for a 3.5-year-old girl with developmental and language delay and a supernumerary ring chromosome mosaicism in 8% of T-lymphocytes analyzed. Using different conventional and molecular cytogenetic techniques as YAC ...

journal_title：Cytogenetic and genome research

authors： Tönnies H,Hennies HC,Spohr HL,Neitzel H

更新日期：2003-01-01 00:00:00

abstract：:Apart from a personal tragedy, could Down syndrome, cancer and infertility possibly have something in common? Are there links between a syndrome with physical and mental problems, a tumor growing out of control and the incapability to reproduce? These questions can be answered if we look at the biological functions of...

journal_title：Cytogenetic and genome research

authors： Barbero JL

更新日期：2011-01-01 00:00:00

abstract：:RNA-binding proteins are involved in post-transcriptional processes like mRNA stabilization, post-transcriptional modification, and transport and have been suggested to play an important role in developmental gene regulation. We report here the cloning and characterization of Brunol4, a novel mouse cDNA closely relate...

journal_title：Cytogenetic and genome research

authors： Meins M,Schlickum S,Wilhelm C,Missbach J,Yadav S,Gläser B,Grzmil M,Burfeind P,Laccone F

更新日期：2002-01-01 00:00:00

abstract：:The economic and ecological importance of forest trees, as well as their unique biological features, has recently raised the level of interest in studies on their genomes, including sequencing of the entire poplar genome. However, cytogenetic studies have not moved in parallel with developments in genomics. This is es...

journal_title：Cytogenetic and genome research

authors： Ribeiro T,Barão A,Viegas W,Morais-Cecíli L

更新日期：2008-01-01 00:00:00

abstract：:A comparative cytogenetic analysis was carried out on four Hylinae tree frogs from Brazil ((Aparasphenodon brunoi, Corythomantis greeningi, Osteocephalus langsdorffii, and Scinax fuscovarius) using Giemsa staining, BrdU replication banding, Ag-NOR staining, C-banding, DAPI and CMA(3) fluorochrome staining, and fluores...

journal_title：Cytogenetic and genome research

authors： Kasahara S,Zampieri Silva AP,Gruber SL,Haddad CF

更新日期：2003-01-01 00:00:00

abstract：:Phyllotines are sigmodontine rodents endemic to South America with broad genetic variability, Robertsonian polymorphisms being the most frequent. Moreover, this taxon includes a species with multiple sex chromosomes, which is infrequent in mammals. However, molecular cytogenetic techniques have never been applied to p...

journal_title：Cytogenetic and genome research

authors： Lanzone C,Labaroni C,Suárez N,Rodríguez D,Herrera ML,Bolzán AD

更新日期：2015-01-01 00:00:00

abstract：:Different genomic resources in chicken were integrated through the Wageningen chicken BAC library. First, a BAC anchor map was created by screening this library with two sets of markers: microsatellite markers from the consensus linkage map and markers created from BAC end sequencing in chromosome walking experiments....

journal_title：Cytogenetic and genome research

authors： Aerts J,Crooijmans R,Cornelissen S,Hemmatian K,Veenendaal T,Jaadar A,van der Poel J,Fillon V,Vignal A,Groenen M

更新日期：2003-01-01 00:00:00

abstract：:Uniparental chromosome elimination occurs in several interspecific hybrids of plants. We studied the mechanism underlying selective elimination of the paternal chromosomes during the development of Hordeum vulgare x H. bulbosum hybrid embryos that is restricted to an early stage of development. In almost all embryos m...

journal_title：Cytogenetic and genome research

authors： Gernand D,Rutten T,Pickering R,Houben A

更新日期：2006-01-01 00:00:00

abstract：:Recent large-scale genomic studies within human populations have identified numerous genomic regions as copy number variant (CNV). As these CNV regions often overlap coding regions of the genome, large lists of potentially copy number polymorphic genes have been produced that are candidates for disease association. Mo...

journal_title：Cytogenetic and genome research

authors： Bailey JA,Kidd JM,Eichler EE

更新日期：2008-01-01 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：:Genomic imprinting has a special role in placental biology. Imprinted genes are often strongly expressed in the placenta, and the allelic expression bias due to imprinting is sometimes stronger in this extraembryonic organ than in the embryo and adult. Mutations, epimutations, and uniparental disomies affecting imprin...

journal_title：Cytogenetic and genome research

authors： Tycko B

更新日期：2006-01-01 00:00:00

abstract：:There is incredible morphological and behavioral diversity among the hundreds of breeds of the domestic dog, CANIS FAMILIARIS. Many of these breeds have come into existence within the last few hundred years. While there are obvious phenotypic differences among breeds, there is marked interbreed genetic homogeneity. Th...

journal_title：Cytogenetic and genome research

authors： Greer KA,Cargill EJ,Cox ML,Clark LA,Tsai KL,Credille KM,Dunstan RW,Venta PJ,Murphy KE

更新日期：2003-01-01 00:00:00

abstract：:A patient with a rare interstitial deletion of chromosomal band 2q33.2q33.3 is described. The clinical features resembled the 2q33.1 microdeletion syndrome (Glass syndrome), including mental retardation, facial dysmorphism, high-arched narrow palate, growth deficiency, and speech delay. The chromosomal aberration was ...

journal_title：Cytogenetic and genome research

authors： Papoulidis I,Paspaliaris V,Papageorgiou E,Siomou E,Dagklis T,Sotiriou S,Thomaidis L,Manolakos E

更新日期：2015-01-01 00:00:00

abstract：:Fusions of the Runt-related transcription factor 1 (RUNX1) with different partner genes have been associated with various hematological disorders. Interestingly, the C-terminally truncated form of RUNX1 and RUNX1 fusion proteins are similarly considered important contributors to leukemogenesis. Here, we describe a 59-...

journal_title：Cytogenetic and genome research

authors： Abe A,Yamamoto Y,Katsumi A,Yamamoto H,Okamoto A,Inaguma Y,Iriyama C,Tokuda M,Okamoto M,Emi N,Tomita A

更新日期：2020-01-01 00:00:00

abstract：:It is widely accepted that the H2AX histone in its phosphorylated form (gamma-H2AX) is related to the repair of DNA double-strand breaks (DSBs). In several organisms, gamma-H2AX presence has been demonstrated in meiotic processes such as recombination and sex chromosome inactivation during prophase I (from leptotene t...

journal_title：Cytogenetic and genome research

authors： Cabrero J,Teruel M,Carmona FD,Camacho JP

更新日期：2007-01-01 00:00:00

abstract：:The genus Astyanax is a specious Neotropical fish group, occurring from the south area of the United States to Argentina. During the past few years, intensive studies on representatives of this group have been performed, broadening the genetic, taxonomic and biogeographical knowledge considerably. However, phylogeneti...

journal_title：Cytogenetic and genome research

authors： Pansonato-Alves JC,Hilsdorf AW,Utsunomia R,Silva DM,Oliveira C,Foresti F

更新日期：2013-01-01 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：:In the zebra finch, 2 alternative morphs regarding centromere position were described for chromosome 6. This polymorphism was interpreted to be the result of a pericentric inversion, but other causes of the centromere repositioning were not ruled out. We used immunofluorescence localization to examine the distribution...

journal_title：Cytogenetic and genome research

authors： del Priore L,Pigozzi MI

更新日期：2015-01-01 00:00:00

abstract：:Both cattle (Bos taurus) and sheep (Ovis aries) belong to the Bovidae family but to different subfamilies, Bovinae and Caprinae, respectively. From a chromosomal point of view, apart from the already known centric fusions (that occurred during the evolutionary process in the Bovidae family) and the small differences i...

journal_title：Cytogenetic and genome research

authors： De Lorenzi L,Pauciullo A,Iannuzzi A,Parma P

更新日期：2020-01-01 00:00:00

abstract：:It is well known that TP53 may mediate apoptosis triggered by anticancer drugs. However, accumulating evidence indicates that TP53 may be inactivated by mutations and/or deletions in about 50% of human cancers and, as such, may lead to pronounced resistance to therapeutic agents. Thus, the development of new approache...

journal_title：Cytogenetic and genome research

authors： Wang J,Wang XF,Zhang LG,Xie SY,Li ZL,Li YJ,Li HH,Jiao F

更新日期：2009-01-01 00:00:00

abstract：:Pesticides are some of the most frequently released toxic chemicals into the environment. Exposure to them has been associated with reproductive dysfunction, but the knowledge of the genotoxic risks of these substances is still limited. In vitro and in vivo, many pesticides are shown to induce aneuploidy. Analysis of ...

journal_title：Cytogenetic and genome research

authors： Härkönen K

更新日期：2005-01-01 00:00:00

abstract：:Analysis of the horse genome is proceeding at a rapid pace. Within a short span of 6-7 years, approximately 1,500 markers have been mapped in horse, of which at least half are genes/ESTs. Health, performance and phenotypic characteristic are of major concern/interest to horse breeders and owners. Current efforts to an...

journal_title：Cytogenetic and genome research

authors： Chowdhary BP,Bailey E

更新日期：2003-01-01 00:00:00