Differential loss of expression of common fragile site genes between oral tongue and oropharyngeal squamous cell carcinomas.

abstract：:A derivative X chromosome formed by translocation involving an X chromosome and a chromosome 18 in a Klinefelter syndrome (KS) patient with a 47,XXY karyotype has not been reported before. In this study, we present the clinical and molecular cytogenetic characteristics. The patient presented with small testes and azoo...

journal_title：Cytogenetic and genome research

authors： Liang J,Zhang Y,Wang R,Liang Z,Yue J,Liu R

更新日期：2015-01-01 00:00:00

abstract：:The mouse UGRP gene family consists of two genes, Ugrp1 and Ugrp2. In this study, the genomic structure and expression patterns of Ugrp2 and its alternative spliced form were characterized. The authentic Ugrp2 gene has three exons and two introns, similar to the Ugrp1 gene, which produces a secreted protein. The Ugrp2...

journal_title：Cytogenetic and genome research

authors： Niimi T,Copeland NG,Gilbert DJ,Jenkins NA,Srisodsai A,Zimonjic DB,Keck-Waggoner CL,Popescu NC,Kimura S

更新日期：2002-01-01 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：: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 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：:The genus Astyanax is a specious Neotropical fish group, occurring from the south area of the United States to Argentina. During the past few years, intensive studies on representatives of this group have been performed, broadening the genetic, taxonomic and biogeographical knowledge considerably. However, phylogeneti...

journal_title：Cytogenetic and genome research

authors： Pansonato-Alves JC,Hilsdorf AW,Utsunomia R,Silva DM,Oliveira C,Foresti F

更新日期：2013-01-01 00:00:00

abstract：:An experimental approach using monoclonal anti-5-methylcytosine (5-MeC) antibodies and indirect immunofluorescence was elaborated for detecting 5-MeC-rich chromosome regions in anuran chromosomes. This technique was applied to mitotic metaphases of 6 neotropical frog species belonging to 6 genera and 4 families. The h...

journal_title：Cytogenetic and genome research

authors： Schmid M,Steinlein C

更新日期：2016-01-01 00:00:00

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：: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：: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：: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：: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：: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 molecular structure of the exceptional telomeres of six plant species belonging to the order Asparagales and two species of the order Liliales was analyzed using Southern blot and fluorescence in situ hybridization. Three different situations were found, namely: i) In the two Liliales species, Tulipa australis (Li...

journal_title：Cytogenetic and genome research

authors： de la Herrán R,Cuñado N,Navajas-Pérez R,Santos JL,Ruiz Rejón C,Garrido-Ramos MA,Ruiz Rejón M

更新日期：2005-01-01 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：:The Ph1 locus in hexaploid wheat (Triticum aestivum L.) enforces diploid-like behavior in the first metaphase of meiosis. To test the hypothesis that this chromosome pairing control is exercised by affecting the degree of chromatin condensation, the dispersion of rye chromatin in interphase nuclei in somatic tissues o...

journal_title：Cytogenetic and genome research

authors： Kopecky D,Allen DC,Duchoslav M,Dolezel J,Lukaszewski AJ

更新日期：2007-01-01 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：: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：: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：:In order to determine synteny conservation of the avian Z chromosome, a chicken (Gallus gallus, GGA) Z chromosome painting probe was hybridized to the chromosomes of 14 bird species belonging to 11 different families. The GGAZ painted the Z chromosomes in all species analyzed, suggesting strong conservation of its gen...

journal_title：Cytogenetic and genome research

authors： Nanda I,Schlegelmilch K,Haaf T,Schartl M,Schmid M

更新日期：2008-01-01 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：:We describe 7 cases of abnormal karyotypes involving chromosomes Y and 15 in Ethiopian Beta Israel patients: 46,XX, der(15)t(Y;15)(q12;p12) and 46,XY,der(15)t(Y;15)(q12;p12). Six cases were incidentally found in amniocentesis performed for various indications; the indication for karyotyping in 1 case was recurrent abo...

journal_title：Cytogenetic and genome research

authors： Chen-Shtoyerman R,Josefsberg Ben-Yehoshua S,Nissani R,Rosensaft J,Appelman Z

更新日期：2012-01-01 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：: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：:Black porgy, Acanthopagrus schlegeli Bleeker, is a marine protandrous hermaphrodite fish. A Dmrt1 cDNA was cloned and characterized and in order to study the process of sex change in this species, mRNA transcripts of Dmrt1 were monitored. Dmrt1 was specifically transcribed in testis and seminal vesicle in 2-year-old b...

journal_title：Cytogenetic and genome research

authors： He CL,Du JL,Wu GC,Lee YH,Sun LT,Chang CF

更新日期：2003-01-01 00:00:00

abstract：:The identification of individual dog chromosomes is problematic because the 38 pairs of autosomes are small and acrocentric. Here we describe the design and application of a FISH tool that enables definitive identification of each dog autosome in a normal karyotype, without relying on subjective interpretation of DAPI...

journal_title：Cytogenetic and genome research

authors： Courtay-Cahen C,Griffiths LA,Hudson R,Starkey M

更新日期：2007-01-01 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：:Deletions in the short arm of chromosome 12 are the rarest subtelomeric imbalances. Less than 20 patients have been reported to date, and their microdeletions were identified either by FISH or array-CGH without SNP data. Here, we report a patient with a 12p13.32pter mosaic deletion detected by chromosome microarray an...

journal_title：Cytogenetic and genome research

authors： Faria RS,de Oliveira CP,da Costa MM,da S Rosa MT,Córdoba MS,Pic-Taylor A,Ferrari I,de Oliveira SF,Mazzeu JF

更新日期：2016-01-01 00:00:00

abstract：:1q44 deletion is a rare syndrome associated with facial dysmorphism and developmental delay, in particular related with expressive speech, seizures, and hypotonia (ORPHA:238769). Until today, the distinct genetic causes for the different symptoms remain not entirely clear. We present a patient with a 2.3-Mb 1q44 delet...

journal_title：Cytogenetic and genome research

authors： Lloveras E,Canellas A,Barranco L,Alves C,Vila-Real M,Ventura V,Fernández D,Mendez B,Piqué M,Reis-Lima M,de la Iglesia C,Palau N,Costa M,Yeste D,Auge M,Perez C

更新日期：2019-01-01 00:00:00

abstract：:DNA methylation is an essential epigenetic feature for the regulation and maintenance of heterochromatin. Satellite DNA is a repetitive sequence component that often occurs in large arrays in heterochromatin of subtelomeric, intercalary and centromeric regions. Knowledge about the methylation status of satellite DNA i...

journal_title：Cytogenetic and genome research

authors： Schmidt M,Hense S,Minoche AE,Dohm JC,Himmelbauer H,Schmidt T,Zakrzewski F

更新日期：2014-01-01 00:00:00