The genomic structure, chromosomal localization, and analysis of SIL as a candidate gene for holoprosencephaly.

abstract：:The etiology of primary cutaneous T-cell lymphomas (CTCL) has been poorly understood. CTCL patients show a large variety of non-clonal and clonal chromosome aberrations, but no specific aberration has been found until recently. This review describes cytogenetic and molecular cytogenetic findings and their relevance to...

journal_title：Cytogenetic and genome research

authors： Karenko L,Hahtola S,Ranki A

更新日期：2007-01-01 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：: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：:Retroelements (REs) actively reshape genomes through genomic rearrangements, creation of new genes and modulation of the regulatory machinery of existing genes, thus introducing genomic novelties which potentially may be subject to natural selection. Thousands of RE integrations, presumably distinguishing the human an...

journal_title：Cytogenetic and genome research

authors： Buzdin A,Vinogradova T,Lebedev Y,Sverdlov E

更新日期：2005-01-01 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：:Mutations/deletions of the IMMP2L gene have been associated with different cognitive/behavioral disturbances, including autism spectrum disorders (ASD). The penetrance of these defects is not complete since they often are inherited from a healthy parent. Using array-CGH in a cohort of 37 ASD patients, we found 2 subje...

journal_title：Cytogenetic and genome research

authors： Baldan F,Gnan C,Franzoni A,Ferino L,Allegri L,Passon N,Damante G

更新日期：2018-01-01 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：:The solute carrier family 26, member 2 (SLC26A2) gene belongs to a family of multifunctional anion exchangers. Mutations in the human SLC26A2 gene are associated with autosomal recessively inherited chondrodysplasias. Hence, we postulate that the equine SLC26A2 could be a candidate gene for conformational traits in ho...

journal_title：Cytogenetic and genome research

authors： Hansen M,Knorr C,Hall AJ,Broad TE,Brenig B

更新日期：2007-01-01 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：:Loss-of-function mutations of the MECP2 gene are the cause of most cases of Rett syndrome in females, a progressive neurodevelopmental disorder characterized by severe mental retardation, global regression, hand stereotypies, and microcephaly. On the other hand, gain of dosage of this gene causes the MECP2 duplication...

journal_title：Cytogenetic and genome research

authors： Mayo S,Monfort S,Roselló M,Orellana C,Oltra S,Armstrong J,Català V,Martínez F

更新日期：2011-01-01 00:00:00

abstract：:Chromosome homologies in reptiles have been investigated extensively by gene mapping and chromosome painting. Relative chromosome size can be estimated roughly from conventional karyotypes, but chromosome GC content cannot be evaluated by any of these approaches. However, GC content can be obtained by whole-genome seq...

journal_title：Cytogenetic and genome research

authors： Kasai F,O'Brien PCM,Ferguson-Smith MA

更新日期：2019-01-01 00:00:00

abstract：:We characterized the DTF2 satellite DNA family of the clam Donaxtrunculus and compared its chromosomal localization with cytogenetic data revealed by fluorochrome banding, C-banding, and 28S rDNA FISH. In contrast to the other satellites detected previously in this species, DTF2 is an abundant (2%) GC-rich satellite t...

journal_title：Cytogenetic and genome research

authors： Petrović V,Pérez-García C,Pasantes JJ,Satović E,Prats E,Plohl M

更新日期：2009-01-01 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：: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：: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：: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：:Centromeres are the sites of kinetochore assembly and spindle fiber attachment and consist of protein-DNA complexes in which the DNA component is typically characterized by the presence of extended arrays of tandem repeats called satellite DNA. Here, we describe the isolation and characterization of a 137-bp-long new ...

journal_title：Cytogenetic and genome research

authors： Nergadze SG,Belloni E,Piras FM,Khoriauli L,Mazzagatti A,Vella F,Bensi M,Vitelli V,Giulotto E,Raimondi E

更新日期：2014-01-01 00:00:00

abstract：:Members of the NFAT (nuclear factors of activated T cells) gene family have been investigated in numerous organisms, including man and mouse. All NFATs may be synthesized in several isoforms differing in amino or carboxy termini due to 5' and 3' alternative splicing of the corresponding mRNA. Recently, we mapped the m...

journal_title：Cytogenetic and genome research

authors： Dalski A,Hebinck A,Winking H,Butzmann U,Schwinger E,Zühlke Ch

更新日期：2002-01-01 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：: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：:An interstitial constriction located on the long arm of rye chromosome 5R (5RL) shows neocentromeric activity at meiosis. In some meiocytes this region is strongly stretched orienting with the true centromere to opposite poles at metaphase I, and keeping sister chromatid cohesion at anaphase I. We found previously tha...

journal_title：Cytogenetic and genome research

authors： Cuacos M,González-García M,González-Sánchez M,Puertas MJ,Vega JM

更新日期：2011-01-01 00:00:00

abstract：:In Europe, 2 different diploid chromosome numbers, 2n = 54 and 2n = 56, have been described in the lesser horseshoe bat (Rhinolophushipposideros). The eastern form with 2n = 56 extends from the Czech Republic to Greece. To date, specimens with 54 chromosomes have been reported only from Spain and Germany. This study e...

journal_title：Cytogenetic and genome research

authors： Kacprzyk J,Teeling EC,Kelleher C,Volleth M

更新日期：2016-01-01 00:00:00

abstract：:Precise breakpoint definition of chromosomal rearrangements using conventional banding techniques often fails, especially when more than two breakpoints are involved. The classic banding procedure results in a pattern of alternating light and dark bands. Hence, in banded chromosomes a specific chromosomal band is rath...

journal_title：Cytogenetic and genome research

authors： Chudoba I,Hickmann G,Friedrich T,Jauch A,Kozlowski P,Senger G

更新日期：2004-01-01 00:00:00

abstract：:XIST encodes a functional RNA that is expressed exclusively from the inactive X in female mammals and is required for the silencing of most of the genes on the chromosome. XIST transcripts remain in the nucleus, and their specific localization to the inactive X is important for silencing; however, it is not known how ...

journal_title：Cytogenetic and genome research

authors： Chow JC,Hall LL,Lawrence JB,Brown CJ

更新日期：2002-01-01 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：:For normal transition through meiosis, chromosomes rely on pairing with their homologues. Chromosomes which fail to pair, univalents, behave irregularly and may undergo various types of breakage across their centromeres. Here, we analyzed the meiotic behavior of misdivision products themselves: isochromosomes and telo...

journal_title：Cytogenetic and genome research

authors： Kopecky D,Lukaszewski AJ

更新日期：2019-01-01 00:00:00

abstract：:The mammalian collagen, type IX, alpha 2 gene (COL9A2) encodes the alpha-2 chain of type IX collagen and is located on horse chromosome 2p16-->p14 harbouring a quantitative trait locus for osteochondrosis. We isolated a bacterial artificial chromosome (BAC) clone containing the equine COL9A2 gene and determined the co...

journal_title：Cytogenetic and genome research

authors： Boneker C,Kuiper H,Drögemüller C,Chowdhary BP,Distl O

更新日期：2006-01-01 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：:Since the discovery of SRY/SRY as a testis-determining gene on the mammalian Y chromosome in 1990, extensive studies have been carried out on the immediate target of SRY/SRY and genes functioning in the course of testis development. Comparative studies in non-mammalian vertebrates including birds have failed to find a...

journal_title：Cytogenetic and genome research

authors： Mizuno S,Kunita R,Nakabayashi O,Kuroda Y,Arai N,Harata M,Ogawa A,Itoh Y,Teranishi M,Hori T

更新日期：2002-01-01 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