A Small Supernumerary Marker Derived from the Pericentromeric Region of Chromosome 5: Case Report and Delineation of Partial Trisomy 5p Phenotype.

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：:Spinocerebellar ataxia type 12 (SCA12), now described in European-American and Asian (Indian) pedigrees, is unique among the SCAs from clinical, pathological, and molecular perspectives. Clinically, the distinguishing feature is early and prominent action tremor with variability in other signs. Pathologically, brain M...

journal_title：Cytogenetic and genome research

authors： Holmes SE,O'Hearn E,Margolis RL

更新日期：2003-01-01 00:00:00

abstract：:ATM, the protein product of the gene mutated in the human autosomal recessive disorder ataxia telangiectasia, is involved in detection of double strand breaks (DSBs) and is a key component of the damage surveillance network of cell cycle proteins. In somatic cells ATM phosphorylates many other proteins including p53, ...

journal_title：Cytogenetic and genome research

authors： Ashley T,Westphal C,Plug-de Maggio A,de Rooij DG

更新日期：2004-01-01 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：:Hordeum chilense Roem. et Schult. has a number of characteristics interesting for breeding: high crossability with other Triticeae, resistance to biotic and abiotic stresses and high variability for quality traits such as endosperm storage proteins or carotenoid content. xTritordeum, the amphiploids between H. chilens...

journal_title：Cytogenetic and genome research

authors： Martín A,Cabrera A

更新日期：2005-01-01 00:00:00

abstract：:The occurrence of interchromosomal effects (ICE) in reciprocal translocation carriers still remains contradictory in the human literature. We used the pig as an animal model to investigate whether the structure of the reciprocal translocations as well as the size and/or type of the chromosomes not involved in the rear...

journal_title：Cytogenetic and genome research

authors： Bonnet-Garnier A,Guardia S,Pinton A,Ducos A,Yerle M

更新日期：2009-01-01 00:00:00

abstract：:Peripheral blood cell cultures were treated for late incorporation of both BrdU and Hoechst-33258 to obtain R-banding pattern preparations. Twenty-eight bovine cosmids from 19 bovine syntenic groups (U), three of which contain type I loci and 25 which contain microsatellite loci and have previously been assigned to ca...

journal_title：Cytogenetic and genome research

authors： Di Meo GP,Perucatti A,Incarnato D,Ferretti L,Di Berardino D,Caputi Jambrenghi A,Vonghia G,Iannuzzi L

更新日期：2002-01-01 00:00:00

abstract：:We analyzed genetic changes in condylomas (four cases), vulvar intraepithelial neoplasia I-III (VIN I-III, eleven cases), and primary vulvar squamous cell carcinomas (VSCC, ten cases) by high-resolution comparative genomic hybridization (HR-CGH) and flowcytometry. All samples were also human papilloma virus (HPV)-geno...

journal_title：Cytogenetic and genome research

authors： Bryndorf T,Kirchhoff M,Larsen J,Andreasson B,Bjerregaard B,Westh H,Rose H,Lundsteen C

更新日期：2004-01-01 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：: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 catarrhine primates were the first group of species studied with comparative molecular cytogenetics. Many of the fundamental techniques and principles of analysis were initially applied to comparisons in these primates, including interspecific chromosome painting, reciprocal chromosome painting and the extensive u...

journal_title：Cytogenetic and genome research

authors： Stanyon R,Rocchi M,Bigoni F,Archidiacono N

更新日期：2012-01-01 00:00:00

abstract：:Klinefelter's syndrome (KS) is the most common sex chromosome abnormality identified in human males. This syndrome is generally associated with infertility. Men with KS may have a 47,XXY or a 46,XY/47,XXY karyotype. Studies carried out in humans and mice suggest that only XY cells are able to enter and complete meiosi...

journal_title：Cytogenetic and genome research

authors： Pinton A,Barasc H,Raymond Letron I,Bordedebat M,Mary N,Massip K,Bonnet N,Calgaro A,Dudez AM,Feve K,Riquet J,Yerle M,Ducos A

更新日期：2011-01-01 00:00:00

abstract：:Among various causes responsible for infertility, it has been admitted for a long time that male infertility can be due to impaired spermatogenesis and/or balanced structural chromosomal abnormalities. Sperm DNA fragmentation is also considered as another cause of infertility. Most of the studies on male infertility h...

journal_title：Cytogenetic and genome research

authors： Perrin A,Basinko A,Douet-Guilbert N,Gueganic N,Le Bris MJ,Amice V,De Braekeleer M,Morel F

更新日期：2011-01-01 00:00:00

abstract：:Chromosomes in hymenopteran insects cannot currently be analysed in adult individuals. The only available cytogenetic techniques need to be performed in larvae. Here we develop and implement a SCAR (Sequence Characterized Amplified Region) marker, associated with B chromosomes in the bee Partamona helleri, which has p...

journal_title：Cytogenetic and genome research

authors： Tosta VC,Tavares MG,Fernandes-Salomão TM,Barros EG,Campos LA,Camacho JP

更新日期：2007-01-01 00:00:00

abstract：:Understanding how increased genome size and diversity within polyploid genomes impacts plant evolution and breeding continues to be challenging. Although historical studies by McClintock suggested the importance of transposable elements mediated by polyploidisation on genomic changes, data from plant crosses remain sc...

journal_title：Cytogenetic and genome research

authors： Bento M,Tomás D,Viegas W,Silva M

更新日期：2013-01-01 00:00:00

abstract：:The Mx gene was originally found in laboratory mice in an infection experiment using influenza virus (Lindermann, 1962). Almost all of the mouse strains in that experiment died from the infection, and only the A2G strain had resistance to the virus. This resistant character was shown to be inherited as a single autoso...

journal_title：Cytogenetic and genome research

authors： Watanabe T

更新日期：2007-01-01 00:00:00

abstract：:Scapinin has been found to bind to cytoplasmic actin and is also a putative regulatory subunit of protein phosphatase-1 (PP1). It is found attached to the nuclear matrix-intermediate filament (NM-IF) and is down-regulated by differentiation of tumor cells. We have analyzed the genomic structure and tissue-specific exp...

journal_title：Cytogenetic and genome research

authors： Worch S,Fiedler E,Hansmann I,Schlote D

更新日期：2006-01-01 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：: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：: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：:2q33 deletions are considered to constitute a distinct clinical entity (Glass syndrome or 2q33 microdeletion syndrome) with a characteristic phenotype. Most patients have moderate to severe developmental delay, speech delay, a particular behavioural phenotype, feeding problems, growth restriction, a typical facial app...

journal_title：Cytogenetic and genome research

authors： Ronzoni L,Novelli A,Brisighelli G,Peron A,Triulzi F,Bianchi V,Leva E,Bedeschi MF

更新日期：2016-01-01 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：:Primary hypertrophic osteoarthropathy (PHO), also known as pachydermoperiostosis, is a rare, multisystemic, autosomal recessive condition typically presenting with digital clubbing, osteoarthropathy, and various skin manifestations. Radiographs show distinctive periosteal reaction and thickening along the long bones. ...

journal_title：Cytogenetic and genome research

authors： Torgutalp M,Durmaz CD,Karabulut HG,Seifert W,Horn D,Akkaya Z,Turgay M

更新日期：2019-01-01 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：:Using FISH and RH mapping a chromosomal map of rat chromosome 10 (RNO10) was constructed. Our mapping data were complemented by other published data and the final map was compared to maps of mouse and human chromosomes. RNO10 contained segments homologous to mouse chromosomes (MMU) 11, 16 and 17, with evolutionary bre...

journal_title：Cytogenetic and genome research

authors： Behboudi A,Sjöstrand E,Gómez-Fabre P,Sjöling A,Taib Z,Klinga-Levan K,Ståhl F,Levan G

更新日期：2002-01-01 00:00:00

abstract：:Immunolabeling using site-specific antibodies against phosphorylated histone H3 at serine 10 or serine 28 revealed in plants an almost similar temporal and spatial pattern of both post-translational modification sites at mitosis and meiosis. During the first meiotic division the entire chromosomes are highly H3 phosph...

journal_title：Cytogenetic and genome research

authors： Gernand D,Demidov D,Houben A

更新日期：2003-01-01 00:00:00

abstract：:Osteosarcoma (OS) is characterized by an unstable karyotype which typically has a heterogeneous pattern of complex chromosomal abnormalities. High-resolution array comparative genomic hybridization (CGH) in combination with interphase fluorescence in situ hybridization (FISH) analyses provides a complete description o...

journal_title：Cytogenetic and genome research

authors： Selvarajah S,Yoshimoto M,Ludkovski O,Park PC,Bayani J,Thorner P,Maire G,Squire JA,Zielenska M

更新日期：2008-01-01 00:00:00

abstract：:Holoprosencephaly (HPE) is the most common congenital malformation of the brain and face in humans. In this study we report the analysis of SIL (Sumacr;CL iumacr;nterrupting lumacr;ocus) as a candidate gene for HPE. Fluorescent in situ hybridization (FISH) analysis using a BAC 246e16 confirmed the assignment of SIL to...

journal_title：Cytogenetic and genome research

authors： Karkera JD,Izraeli S,Roessler E,Dutra A,Kirsch I,Muenke M

更新日期：2002-01-01 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：:Large pericentric inversions in chromosome 10 are rare chromosomal aberrations with only few cases of familial inheritance. Such chromosomal rearrangements may lead to production of unbalanced gametes. As a result of a recombination event in the inversion loop, 2 recombinants with duplicated and deficient chromosome s...

journal_title：Cytogenetic and genome research

authors： Ciuladaite Z,Preiksaitiene E,Utkus A,Kučinskas V

更新日期：2014-01-01 00:00:00