Towards many colors in FISH on 3D-preserved interphase nuclei.

abstract：:Nonmosaic trisomy involving 19p13.3p13.2 is a very uncommon abnormality. At present, only 12 cases with this genetic condition have been reported in the literature. However, the size of the trisomic fragment is heterogeneous and thus, the clinical spectrum is variable. Herein, we report the clinical and cytogenetic ch...

journal_title：Cytogenetic and genome research

authors： Martínez Anaya D,Fernández Hernández L,González Del Angel A,Alcántara Ortigoza MA,Ulloa Avilés V,Pérez Vera P

更新日期：2020-01-01 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：:The purpose of this study was to identify a technique that allows for comprehensive chromosome screening (CCS) of individual cells within human blastocysts along with the approximation of their location in the trophectoderm relative to the inner cell mass (ICM). This proof-of-concept study will allow for a greater und...

journal_title：Cytogenetic and genome research

authors： Taylor TH,Griffin DK,Katz SL,Crain JL,Johnson L,Gitlin S

更新日期：2016-01-01 00:00:00

abstract：:Interspaced repetitive DNA elements and segmental duplications have been extensively analyzed in fishes through physical chromosome mapping methods, providing a better comprehension of the structure and organization of the genome of this group. In order to contribute to this scenario, a sequence integration study of d...

journal_title：Cytogenetic and genome research

authors： Sczepanski TS,Vicari MR,de Almeida MC,Nogaroto V,Artoni RF

更新日期：2013-01-01 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：:A 17-year-old girl presented with a distinct phenotype mainly featuring craniofacial dysmorphism, including a disproportioned large, round, elongated face; hypertelorism; deep-set eyes with short palpebral fissures; obesity (BMI 37), and a neuropsychiatric disorder with high-functioning autism. Postnatal conventional ...

journal_title：Cytogenetic and genome research

authors： Camerota L,Pitzianti M,Postorivo D,Nardone AM,Ligas C,Moretti C,Pasini A,Brancati F

更新日期：2017-01-01 00:00:00

abstract：:The suborder Serpentes is divided into 2 infraorders, Scolecophidia and Alethinophidia, which diverged at an early stage of snake diversification. In this study, we examined karyotypes of 4 scolecophidian species (Letheobia simonii, Xerotyphlops vermicularis, Indotyphlops braminus, and Myriopholis macrorhyncha) and pe...

journal_title：Cytogenetic and genome research

authors： Matsubara K,Kumazawa Y,Ota H,Nishida C,Matsuda Y

更新日期：2019-01-01 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：: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：: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：: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 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：:Genetic strategies for the post-genomic sequence age will be designed to provide information about gene function in a myriad of physiological processes. Here an ENU mutagenesis program (http://reprogenomics.jax.org) is described that is generating a large resource of mutant mouse models of infertility; male and female...

journal_title：Cytogenetic and genome research

authors： Lessard C,Pendola JK,Hartford SA,Schimenti JC,Handel MA,Eppig JJ

更新日期：2004-01-01 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：: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：:Translocations involving chromosomal region 19q13 are a frequent finding in follicular adenomas of the thyroid and might represent the most frequent type of structural aberration in human epithelial tumors. By positional cloning, a putative candidate gene, ZNF331 (formerly RITA) located close to the breakpoint was ide...

journal_title：Cytogenetic and genome research

authors： Meiboom M,Murua Escobar H,Pentimalli F,Fusco A,Belge G,Bullerdiek J

更新日期：2003-01-01 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：:The most prevalent structural variations in the human genome are copy number variations (CNVs), which appear predominantly in the subtelomeric regions. Variable sizes of 4p/4q CNVs have been associated with several different psychiatric findings and developmental disability (DD). We analyzed 105 patients with congenit...

journal_title：Cytogenetic and genome research

authors： Novo-Filho GM,Montenegro MM,Zanardo ÉA,Dutra RL,Dias AT,Piazzon FB,Costa TV,Nascimento AM,Honjo RS,Kim CA,Kulikowski LD

更新日期：2016-01-01 00:00:00

abstract：:Sources of environmental exposures to potentially aneugenic agents are many and include occupational and therapeutic exposures, and exposures associated with lifestyle habits. In this present study, some of these agents and exposure scenarios are discussed that involve potentially large population targets and/or seem ...

journal_title：Cytogenetic and genome research

authors： Pacchierotti F,Eichenlaub-Ritter U

更新日期：2011-01-01 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：:Here, a new satellite-DNA family is isolated and characterized from wedge sole, Dicologoglossa cuneata Moreau, 1881 (Pleuronectiformes), a fish having a small genome. This satellite-DNA family of sequences was isolated by conventional cloning after digestion of genomic DNA with the DraI restriction enzyme. Repeat unit...

journal_title：Cytogenetic and genome research

authors： de la Herrán R,Robles F,Navas JI,López-Flores I,Herrera M,Hachero I,Garrido-Ramos MA,Ruiz Rejón C,Ruiz Rejón M

更新日期：2008-01-01 00:00:00

abstract：:It is widely accepted that unrepaired or misrepaired DNA double strand breaks (DSBs) lead to the formation of chromosome aberrations. DSBs induced in the DNA of higher eukaryotes by endogenous processes or exogenous agents can in principle be repaired either by non-homologous endjoining (NHEJ), or homology directed re...

journal_title：Cytogenetic and genome research

authors： Iliakis G,Wang H,Perrault AR,Boecker W,Rosidi B,Windhofer F,Wu W,Guan J,Terzoudi G,Pantelias G

更新日期：2004-01-01 00:00:00

abstract：:In animals, supernumerary chromosomes and their evolution have mostly been studied in sexual reproducing species. In the present study, for the first time, the natural distribution and stability of supernumerary microchromosomes were investigated in the unisexual fish species Poecilia formosa. Natural habitats through...

journal_title：Cytogenetic and genome research

authors： Lamatsch DK,Nanda I,Schlupp I,Epplen JT,Schmid M,Schartl M

更新日期：2004-01-01 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：: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：:Only mammals have relinquished parthenogenesis as a means of producing descendants. Bi-parental reproduction is necessary due to parent-specific epigenetic modification of the genome during gametogenesis, which leads to non-equivalent expression of imprinted genes from the maternal and paternal alleles. However, a ser...

journal_title：Cytogenetic and genome research

authors： Kono T

更新日期：2006-01-01 00:00:00

abstract：:ZOO-FISH mapping shows human chromosomes 1, 9 and 10 share regions of homology with pig chromosome 10 (SSC10). A more refined comparative map of SSC10 has been developed to help identify positional candidate genes for QTL on SSC10 from human genome sequence. Genes from relevant chromosomal regions of the public human ...

journal_title：Cytogenetic and genome research

authors： Aldenhoven J,Chen Y,Backofen B,Moran C

更新日期：2003-01-01 00:00:00

abstract：:Neacomys (Sigmodontinae) comprises 8 species mainly found in the Amazonian region. We describe 5 new karyotypes from Brazilian Amazonia: 2 cytotypes for N. paracou (2n = 56/FNa = 62-66), 1 for N. dubosti (2n = 64/FNa = 68), and 2 for Neacomys sp. (2n = 58/FNa = 64-70), with differences in the 18S rDNA. Telomeric probe...

journal_title：Cytogenetic and genome research

authors： da Silva WO,Pieczarka JC,Rossi RV,Schneider H,Sampaio I,Miranda CL,da Silva CR,Cardoso EM,Nagamachi CY

更新日期：2015-01-01 00:00:00

abstract：:Maternal uniparental disomy (UPD) 15 is one of the molecular causes of Prader-Willi syndrome (PWS), a multisystem disorder which presents with neonatal hypotonia and feeding difficulty. Current diagnostic algorithms differ regarding the use of SNP microarray to detect PWS. We retrospectively examined the frequency wit...

journal_title：Cytogenetic and genome research

authors： Santoro SL,Hashimoto S,McKinney A,Mihalic Mosher T,Pyatt R,Reshmi SC,Astbury C,Hickey SE

更新日期：2017-01-01 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