De novo interstitial triplication of MECP2 in a girl with neurodevelopmental disorder and random X chromosome inactivation.

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：:This review summarizes older as well as recent data about the model dioecious plant Silene latifolia. This plant has been the subject of more than one hundred years of research efforts and its most conspicuous property is huge and well differentiated heteromorphic sex chromosomes, XX in females and XY in males. Due to...

journal_title：Cytogenetic and genome research

authors： Kejnovsky E,Vyskot B

更新日期：2010-07-01 00:00:00

abstract：:The aim of this review is to describe the level of intimacy between Ty retrotransposons (Ty1-Ty5) and their host the yeast Saccharomyces cerevisiae. The effects of Ty location in the genome and of host proteins on the expression and mobility of Ty elements are highlighted. After a brief overview of Ty diversity and ev...

journal_title：Cytogenetic and genome research

authors： Lesage P,Todeschini AL

更新日期：2005-01-01 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：:KLF13 and FGFR3 have important cellular functions and each is believed to play a role in cancer. KLF13 is a transcription factor required for the expression of several oncogenes. FGFR3 is a fibroblast growth factor receptor that initiates a signaling cascade leading to the activation of numerous cellular pathways. Her...

journal_title：Cytogenetic and genome research

authors： Henson BJ,Gollin SM

更新日期：2010-06-01 00:00:00

abstract：:Despite extensive analyses on the centromere and its associated proteins, detailed studies of centromeric DNA structure have provided limited information about its topography in condensed chromatin. We have developed a method with correlative fluorescence light microscopy and atomic force microscopy that investigates ...

journal_title：Cytogenetic and genome research

authors： Khan WA,Chisholm R,Tadayyon S,Subasinghe A,Norton P,Samarabandu J,Johnston LJ,Knoll JH,Rogan PK

更新日期：2013-01-01 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：:This article presents the first physical mapping carried out in the Senegalese sole (Solea senegalensis), an important marine fish species of Southern Europe. Eight probes were designated to pick up genes of interest in aquaculture (candidate genes) from a bacterial artificial chromosome (BAC) library using a method o...

journal_title：Cytogenetic and genome research

authors： García-Cegarra A,Merlo MA,Ponce M,Portela-Bens S,Cross I,Manchado M,Rebordinos L

更新日期：2013-01-01 00:00:00

abstract：:Normal diploid somatic mammalian cell division generates 2 daughter cells as a result of a strict and well-controlled mitotic process. However, some defects during the progression of that process could generate an unbalanced distribution of chromosomes, aneuploidy and eventually, a malignant phenotype. Previous observ...

journal_title：Cytogenetic and genome research

authors： Dutra A,Pak E,Wincovitch S,John K,Poirier MC,Olivero OA

更新日期：2010-01-01 00:00:00

abstract：:The common fragile sites (CFSs) are large regions of profound genomic instability found in all individuals. A number of the CFSs have been found to span genes that extend over large genomic regions (>700 kb). The expression of these genes is frequently abrogated in a number of different cancers and several of them hav...

journal_title：Cytogenetic and genome research

authors： Soderberg C,Perez DS,Ukpo OC,Liang X,O'Reilly AG,Moore EJ,Kademani D,Smith DI

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：: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：:Telomeres are the nucleoprotein structures that cap the ends of linear chromosomes. The length of telomeric DNA is an important determinant of function; with short telomeres triggering either replicative senescence or, in the absence of a functional DNA damage response, telomere fusion. Telomere fusion can trigger cyc...

journal_title：Cytogenetic and genome research

authors： Baird DM

更新日期：2008-01-01 00:00:00

abstract：:Chromatin diminution (CD) is a phenomenon of programmed DNA elimination which takes place in early embryogenesis in some eukaryotes. The mechanism and biological role of CD remain largely unknown. During CD in the freshwater copepod Cyclops kolensis, the genome of cells of the somatic lineage is reorganized and reduce...

journal_title：Cytogenetic and genome research

authors： Grishanin AK,Zagoskin MV

更新日期：2018-01-01 00:00:00

abstract：:The formation of heterochromatin begins in the differentiating cells. The aim of this work was to study changes of satellite DNA distribution, transcriptional activity and interaction with certain proteins in mouse embryonic stem cells after induction with retinoic acid. We found that pericentromeric satellites entere...

journal_title：Cytogenetic and genome research

authors： Enukashvily NI,Malashicheva AB,Waisertreiger IS

更新日期：2009-01-01 00:00:00

abstract：:Variations of DNA sequences in the human genome range from large, microscopically visible chromosome anomalies to single nucleotide changes. Submicroscopic genomic copy number variations, i.e. chromosomal imbalances which are undetectable by conventional cytogenetic analysis, play an intriguing clinical role. In this ...

journal_title：Cytogenetic and genome research

authors： Riccardi F,Rivolta GF,Uliana V,Grati FR,La Starza R,Marcato L,Di Perna C,Quintavalle G,Garavelli L,Rosato S,Sammarelli G,Neri TM,Tagliaferri A,Martorana D

更新日期：2015-01-01 00:00:00

abstract：:The genus Hypostomus has a broad geographic distribution in Brazilian rivers and comprises armored catfishes with a very complicated taxonomy due to the absence of morphological autapomorphies. The existence of nearly 10 allopatric populations with different karyotypes suggests that Hypostomusancistroides represents a...

journal_title：Cytogenetic and genome research

authors： Rocha-Reis DA,de Oliveira Brandão K,de Almeida-Toledo LF,Pazza R,Kavalco KF

更新日期：2018-09-28 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：: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：: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：:Several patients with 5p duplication or 15q deletion have been reported in the literature, involving different chromosome regions and clinical features. Here, we describe a family in which we identified a 30-Mb 5p15.33p13.3 gain and a 2.5-Mb 15q26.3 loss in 3 individuals, due to a balanced familial translocation betwe...

journal_title：Cytogenetic and genome research

authors： Bellucco FT,Favilla BP,Perrone E,Melaragno MI

更新日期：2020-12-14 00:00:00

abstract：:The epigenome is thought to mediate between genes and the environment, particularly in response to adverse life experiences. Similar to other psychiatric diseases, the suicide liability of an individual appears to be influenced by many genetic factors of small effect size as well as by environmental stressors. To iden...

journal_title：Cytogenetic and genome research

authors： Schneider E,El Hajj N,Müller F,Navarro B,Haaf T

更新日期：2015-01-01 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：:Physical mapping of 5S rDNA in 2 species of knifefishes, Gymnotuspantanal and G. paraguensis (Gymnotiformes), was performed using fluorescence in situ hybridization with a 5S rDNA probe. The 5S rDNA PCR product from the genomes of both species was also sequenced and aligned to determine non-transcribed spacer sequence...

journal_title：Cytogenetic and genome research

authors： da Silva M,Matoso DA,Vicari MR,de Almeida MC,Margarido VP,Artoni RF

更新日期：2011-01-01 00:00:00

abstract：:The karyotype of the pine woods treefrog, Hyla femoralis, is characterized by primitive XY female/XX male sex chromosomes. The sole difference between the X and the Y is the presence of a nucleolus organizer region (NOR) in the X. Due to a deletion of the NOR in the Y, this chromosome is distinctly smaller than the X....

journal_title：Cytogenetic and genome research

authors： Schmid M,Steinlein C

更新日期：2003-01-01 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：: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：:In this report, we describe three unrelated patients with similar symptoms such as mental retardation, growth delay and multiple phenotypic abnormalities. GTG-banding analysis revealed karyotypes with add(1p) in two cases and an add(1q) in the third. Fluorescence in situ hybridization (FISH) analysis using high resolu...

journal_title：Cytogenetic and genome research

authors： Polityko A,Starke H,Rumyantseva N,Claussen U,Liehr T,Raskin S

更新日期：2005-01-01 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：:A 41-year-old Asian woman with bilateral renal angiomyolipomas (AML) was incidentally identified to have a balanced translocation, 46,XX,t(11;12)(p15.4;q15). She had no other features or family history to suggest a diagnosis of tuberous sclerosis. Her healthy daughter had the same translocation and no renal AML at the...

journal_title：Cytogenetic and genome research

authors： Thibodeau ML,Steinraths M,Brown L,Zong Z,Shomer N,Taubert S,Mungall KL,Ma YP,Mueller R,Birol I,Lehman A

更新日期：2017-01-01 00:00:00