Recurrent inversion events at 17q21.31 microdeletion locus are linked to the MAPT H2 haplotype.

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：:Approximately 15 patients with partial trisomy 9p involving de novo duplications have been previously described. Here, we present clinical, cytogenetic, FISH and aCGH findings in a patient with a de novo complex rearrangement in the short arm of chromosome 9 involving an inverted duplication at 9p24-->p21.3 and a dele...

journal_title：Cytogenetic and genome research

authors： Hulick PJ,Noonan KM,Kulkarni S,Donovan DJ,Listewnik M,Ihm C,Stoler JM,Weremowicz S

更新日期：2009-01-01 00:00:00

abstract：:The human brain is distinguished by its remarkable size, high energy consumption, and cognitive abilities compared to all other mammals and non-human primates. However, little is known about what has accelerated brain evolution in the human lineage. One possible explanation is that the appearance of advanced communica...

journal_title：Cytogenetic and genome research

authors： Schneider E,Jensen LR,Farcas R,Kondova I,Bontrop RE,Navarro B,Fuchs E,Kuss AW,Haaf T

更新日期：2012-01-01 00:00:00

abstract：:In 1957/58 the British Government conducted a series of nuclear tests in the mid-Pacific codenamed Operation Grapple, which involved several naval vessels from Britain and New Zealand. Two New Zealand frigates with 551 personnel onboard were stationed at various distances between 20 and 150 nautical miles from ground ...

journal_title：Cytogenetic and genome research

authors： Wahab MA,Nickless EM,Najar-M'kacher R,Parmentier C,Podd JV,Rowland RE

更新日期：2008-01-01 00:00:00

abstract：:The relationship between the apparently random chromosomal changes found in aneuploidy and the genetic instability driving the progression of cancer is not clear. We report a test of the hypothesis that aneuploid chromosomal abnormalities might be selected to preserve cell-survival genes during loss of heterozygosity ...

journal_title：Cytogenetic and genome research

authors： Nestor AL,Hollopeter SL,Matsui SI,Allison D

更新日期：2007-01-01 00:00:00

abstract：:Genome projects allow us to sample copies of a retrotransposon sequence family residing in a host genome. The variation in DNA sequence between these individual copies will reflect the evolutionary process that has spread the sequences through the genome. Here I review quantitatively the expected diversity of elements...

journal_title：Cytogenetic and genome research

authors： Brookfield JF

更新日期：2005-01-01 00:00:00

abstract：:An important aspect of genome reprogramming is the establishment and maintenance of gamete-specific DNA methylation patterns that distinguish the parental alleles of imprinted genes. Disrupting the accurate transmission of genomic imprints by interfering with these methylation patterns causes severe defects in fetal g...

journal_title：Cytogenetic and genome research

authors： Paoloni-Giacobino A,Chaillet JR

更新日期：2006-01-01 00:00:00

abstract：:Transposable elements (TE) constitute one of the most variable genomic features among vertebrates, impacting genome size, structure, and composition. Despite their important role in shaping genomic diversity, they have mostly been studied in mammals, which display one of the least diverse genomes in terms of TE divers...

journal_title：Cytogenetic and genome research

authors： Boissinot S,Bourgeois Y,Manthey JD,Ruggiero RP

更新日期：2019-01-01 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：:The chromosomes and banding patterns of Steindachneridion sp., a large catfish (Pimelodidae), endemic to the Iguaçu River, Brazil, were analyzed using conventional (C-, G-banding) and restriction enzyme banding methods. The same diploid number (2n = 56) as in other members of the genus and the family was found but the...

journal_title：Cytogenetic and genome research

authors： Swarça AC,Fenocchio AS,Cestari MM,Bertollo LA,Dias AL

更新日期：2006-01-01 00:00:00

abstract：:Under specific stress treatments, the microspore can be induced in vitro to deviate from its gametophytic development and to reprogram towards embryogenesis, becoming a totipotent cell and forming haploid embryos. These can further regenerate homozygous plants for production of new isogenic lines, an important biotech...

journal_title：Cytogenetic and genome research

authors： El-Tantawy AA,Solís MT,Risueño MC,Testillano PS

更新日期：2014-01-01 00:00:00

abstract：:We have investigated the karyotype relationships of two oriental voles, i.e. the Yulong vole (Eothenomys proditor, 2n = 32) and the large oriental vole (Eothenomys miletus, 2n = 56) as well as the Clarke's vole (Microtus clarkei, 2n = 52), by a combined approach of cross-species chromosome painting and high-resolution...

journal_title：Cytogenetic and genome research

authors： Li T,Wang J,Su W,Yang F

更新日期：2006-01-01 00:00:00

abstract：:To obtain an estimate of the variation in common fragile sites (CFSs) among individuals, aphidicolin (APC)-induced chromosomal breakage data were analyzed for 20 karyotypically normal adult humans. As it is specifically designed to meet the analytical requirements for considering fragile sites as presence/absence char...

journal_title：Cytogenetic and genome research

authors： Denison SR,Simper RK,Greenbaum IF

更新日期：2003-01-01 00:00:00

abstract：:The Hodgkin cell line U-HO1 was established from a malignant pleural effusion of a 23-year-old male patient during the end stage of refractory nodular sclerosing classical Hodgkin lymphoma (cHL). Since its establishment in 2005, U-HO1 has maintained stable characteristics in vitro and has a doubling time of about 4 da...

journal_title：Cytogenetic and genome research

authors： Mader A,Bruderlein S,Wegener S,Melzner I,Popov S,Muller-Hermelink HK,Barth TF,Viardot A,Moller P

更新日期：2007-01-01 00:00:00

abstract：:During the last decade not only multicolor fluorescence in situ hybridization (FISH) using whole chromosome paints as probes, but also numerous chromosome banding techniques based on FISH have been developed for the human and for the murine genome. This review focuses on such FISH-banding techniques, which were recent...

journal_title：Cytogenetic and genome research

authors： Liehr T,Starke H,Heller A,Kosyakova N,Mrasek K,Gross M,Karst C,Steinhaeuser U,Hunstig F,Fickelscher I,Kuechler A,Trifonov V,Romanenko SA,Weise A

更新日期：2006-01-01 00:00:00

abstract：:RNA interference (RNAi) refers to the selective degradation of mRNA induced by double-stranded RNA (dsRNA), first discovered in Caenorhabditis elegans. Homology-dependent silencing phenomena related to RNAi have been observed in many species from all eukaryotic kingdoms. RNAi and related mechanisms share several conse...

journal_title：Cytogenetic and genome research

authors： Svoboda P

更新日期：2004-01-01 00:00:00

abstract：:We have identified LIM-kinase (LIMK1 and LIMK2), the only known catalytic protein among LIM-family molecules. Both LIMK1 and LIMK2 phosphorylate (inactivate) cofilin, an actin depolymerizing factor, and induce actin cytoskeleton reorganization. We as well as others concurrently demonstrated that LIMK activation was re...

journal_title：Cytogenetic and genome research

authors： Takahashi H,Funakoshi H,Nakamura T

更新日期：2003-01-01 00:00:00

abstract：:Cytogenetic investigations performed in eight Portuguese cattle breeds revealed the presence of rob(1;29) in both heterozygous and homozygous conditions in all, and five breeds, respectively, with variable percentages of carriers as follows: 41.0% in Arouquesa, 69.9% in Barrosa, 39.4% in Maronesa, 2.8% in Mirandesa, 8...

journal_title：Cytogenetic and genome research

authors： Iannuzzi A,Di Meo GP,Caputi Jambrenghi A,Vonghia G,Iannuzzi L,Rangel-Figueiredo T

更新日期：2008-01-01 00:00:00

abstract：:Proximal 6q deletions have a milder phenotype than middle and distal 6q deletions. We describe 2 patients with non-overlapping deletions of about 15 and 19 Mb, respectively, which subdivide the proximal 6q region into 2 parts. The aberrations were identified using karyotyping and analysed using mBAND and array CGH. Th...

journal_title：Cytogenetic and genome research

authors： Vlckova M,Trkova M,Zemanova Z,Hancarova M,Novotna D,Raskova D,Puchmajerova A,Drabova J,Zmitkova Z,Tan Y,Sedlacek Z

更新日期：2012-01-01 00:00:00

abstract：:Radiation-induced chromosome damage can be measured in interphase using the Premature Chromosome Condensation (PCC) technique. With the introduction of a new PCC technique using the potent phosphatase inhibitor calyculin-A, chromosomes can be condensed within five minutes, and it is now possible to examine the early d...

journal_title：Cytogenetic and genome research

authors： Kawata T,Ito H,Uno T,Saito M,Yamamoto S,Furusawa Y,Durante M,George K,Wu H,Cucinotta FA

更新日期：2004-01-01 00:00:00

abstract：:Homologous chromosome pairing and recombination are essential components of meiosis and sexual reproduction. The reshuffling of genetic material through breakage and reunion of chromatids ensure proper segregation of homologous chromosomes in reduction division and genetic diversity in the progeny. The advent of somat...

journal_title：Cytogenetic and genome research

authors： Hart EJ,Pinton A,Powell A,Wall R,King WA

更新日期：2008-01-01 00:00:00

abstract：:Transposable elements have driven genome evolution and plasticity in many ways across a range of organisms. Different types of biotic and abiotic stresses can stimulate the expression or transposition of these mobile elements. Here, we cytogenetically analyzed natural fish populations of the same species living under ...

journal_title：Cytogenetic and genome research

authors： da Silva FA,Corrêa Guimarães EM,Carvalho NDM,Ferreira AMV,Schneider CH,Carvalho-Zilse GA,Feldberg E,Gross MC

更新日期：2020-01-01 00:00:00

abstract：:In order to contribute to the knowledge of type and frequency of chromosome abnormalities in early pregnancy losses, we analyzed the cytogenetic results from a large series of first trimester miscarriages, using a diagnostic approach with a high success rate and no maternal contamination. A total of 1,119 consecutive ...

journal_title：Cytogenetic and genome research

authors： Soler A,Morales C,Mademont-Soler I,Margarit E,Borrell A,Borobio V,Muñoz M,Sánchez A

更新日期：2017-01-01 00:00:00

abstract：:In birds, females are heterogametic (ZW), while males are homogametic (ZZ). It has been proposed that there is no dosage compensation for the expression of Z-linked genes in birds. In order to examine if the genes are inactivated on one of the two Z chromosomes, we analyzed the allelic expression of the B4GALT1 and CH...

journal_title：Cytogenetic and genome research

authors： Kuroiwa A,Yokomine T,Sasaki H,Tsudzuki M,Tanaka K,Namikawa T,Matsuda Y

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：:Variations of gene copy number in the human genome are increasingly recognized as a genetic factor in phenotypic variation. Human CC chemokine ligand 3-like 1 gene (CCL3L1), which is located on human chromosome 17q11.2, is highly variable in copy number owing to having a hot spot for segmental duplications. CCL3L1, a ...

journal_title：Cytogenetic and genome research

authors： Nakajima T,Kaur G,Mehra N,Kimura A

更新日期：2008-01-01 00:00:00

abstract：:The INRA and the CHORI-241 horse BAC libraries were screened by hybridization with DNA probes and/or directly by PCR with primers designed in consensus sequences of genes localized at the end of each human chromosome. BAC clones were retrieved and 36 could be FISH mapped after the expected gene was confirmed in each B...

journal_title：Cytogenetic and genome research

authors： Perrocheau M,Boutreux V,Chadi-Taourit S,Di Meo GP,Perucatti A,Incarnato D,Cribiu EP,Guérin G,Iannuzzi L

更新日期：2005-01-01 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：: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：:We report the first case of an 18p11.32 deletion, detected by array CGH, associated with a drug-resistant form of atypical absence epilepsy, global developmental delay and no signs of holoprosencephaly (HPE). In particular, this region encompasses 19 genes, and none of these genes have been strictly associated with ep...

journal_title：Cytogenetic and genome research

authors： Verrotti A,Palka C,Prezioso G,Alfonsi M,Calabrese G,Palka G,Chiarelli F

更新日期：2015-01-01 00:00:00