Interphase M-FISH applications using commercial probes in prenatal and PGD diagnostics.

abstract：:Aegilops mutica Boiss., a diploid species (2n = 2x = 14, TT), has been rarely studied before. In this research, a hexaploid wheat (cv. Chinese Spring)-Ae. mutica partial amphiploid and a wheat-Ae. mutica addition line were characterized by chromosome karyotyping, FISH using oligonucleotides Oligo-pTa535-1, Oligo-pSc11...

journal_title：Cytogenetic and genome research

authors： Liu C,Li GR,Gong WP,Li GY,Han R,Li HS,Song JM,Liu AF,Cao XY,Chu XS,Yang ZJ,Huang CY,Zhao ZD,Liu JJ

更新日期：2015-01-01 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：:Microdeletions of 3q29 have previously been reported, but the postulated reciprocal microduplication has only recently been observed. Here, cases from four families, two ascertained in Toronto (Canada) and one each from Edinburgh (UK) and Leiden (Netherlands), carrying microduplications of 3q29 are presented. These fa...

journal_title：Cytogenetic and genome research

authors： Goobie S,Knijnenburg J,Fitzpatrick D,Sharkey FH,Lionel AC,Marshall CR,Azam T,Shago M,Chong K,Mendoza-Londono R,den Hollander NS,Ruivenkamp C,Maher E,Tanke HJ,Szuhai K,Wintle RF,Scherer SW

更新日期：2008-01-01 00:00:00

abstract：:Human papillomaviruses (HPV) are responsible for the development of almost all cervical cancers. HPV is also found in 85% of anal cancer and in 50% of penile, vulvar, and vaginal cancers, and they are increasingly found in a subset of head and neck cancers, i.e., oropharyngeal squamous cell carcinomas (OPSCC). The mod...

journal_title：Cytogenetic and genome research

authors： Gao G,Smith DI

更新日期：2016-01-01 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：: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：: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：: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 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：: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：: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：:Birds have a ubiquitous, female heterogametic, ZW sex chromosome system. The current model suggests that the Z chromosome and its degraded partner, the W chromosome, evolved from an ancestral pair of autosomes independently from the mammalian XY male heteromorphic sex chromosomes--which are similar in size, but not ge...

journal_title：Cytogenetic and genome research

authors： Stiglec R,Ezaz T,Graves JA

更新日期：2007-01-01 00:00:00

abstract：:In birds, females are heterogametic (ZW), while males are homogametic (ZZ). It has been proposed that there is no dosage compensation for the expression of Z-linked genes in birds. In order to examine if the genes are inactivated on one of the two Z chromosomes, we analyzed the allelic expression of the B4GALT1 and CH...

journal_title：Cytogenetic and genome research

authors： Kuroiwa A,Yokomine T,Sasaki H,Tsudzuki M,Tanaka K,Namikawa T,Matsuda Y

更新日期：2002-01-01 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：:We describe the case of a male newborn with ring chromosome 13 found to have dysmorphic features, growth retardation, imperforate anus, and ambiguous genitalia. An initial karyotype showed 46,XY,r(13)(p13q34) in the 30 cells analyzed. SNP microarray from peripheral blood revealed not only an 8.14-Mb 13q33.2q34 deletio...

journal_title：Cytogenetic and genome research

authors： Kaylor J,Alfaro M,Ishwar A,Sailey C,Sawyer J,Zarate YA

更新日期：2014-01-01 00:00:00

abstract：:Most human cancers are characterized by genomic instability. Changes associated with such may result in altered expression of numerous genes. The sequence information available in the public databases can be used to identify transcripts differentially expressed in cancers. Determining cancer-related genes that are com...

journal_title：Cytogenetic and genome research

authors： Chen S,Zhu B,Yu L

更新日期：2006-01-01 00:00:00

abstract：:Xenopus is an important model organism for the study of genome duplication in vertebrates. With the full genome sequence of diploid Xenopus tropicalis available, and that of allotetraploid X. laevis close to being finished, we will be able to expand our understanding of how duplicated genes have evolved. One of the ke...

journal_title：Cytogenetic and genome research

authors： Kwon T

更新日期：2015-01-01 00:00:00

abstract：:The osprey (Pandion haliaetus) has a diploid number of 74 chromosomes, consisting of a large number of medium-sized macrochromosomes and relatively few microchromosomes; this differs greatly from the typical avian karyotype. Chromosome painting with chicken DNA probes revealed that the karyotype of P. haliaetus differ...

journal_title：Cytogenetic and genome research

authors： Nishida C,Ishishita S,Yamada K,Griffin DK,Matsuda Y

更新日期：2014-01-01 00:00:00

abstract：:Previous genetic mapping identified three linkage groups (M1, M18 and M26) in the turkey corresponding to chicken chromosome 1 (GGA1). This is inconsistent with previously described chromosomal differences between these species. FISH analysis of BAC clones corresponding to microsatellite markers from each of the three...

journal_title：Cytogenetic and genome research

authors： Reed KM,Sullivan LR,Foster LK,Chaves LD,Ponce de León FA

更新日期：2006-01-01 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：:RNA interference (RNAi) refers to the selective degradation of mRNA induced by double-stranded RNA (dsRNA), first discovered in Caenorhabditis elegans. Homology-dependent silencing phenomena related to RNAi have been observed in many species from all eukaryotic kingdoms. RNAi and related mechanisms share several conse...

journal_title：Cytogenetic and genome research

authors： Svoboda P

更新日期：2004-01-01 00:00:00

abstract：:Recent studies of the LTR-retrotransposons of Schizosaccharomyces pombe have shed considerable light on their evolution and function. The sequencing of the S. pombe genome allowed analysis of its transposon content. This analysis provides information about the maintenance and loss of transposons in the genome. The res...

journal_title：Cytogenetic and genome research

authors： Kelly FD,Levin HL

更新日期：2005-01-01 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：:Oligonucleotide array comparative genomic hybridization (aCGH) was applied on fifteen gastric cancer (GCA) samples to reveal information of DNA copy number changes at an exon-level resolution. Twelve of the samples represented the intestinal (IGCA) and three the diffuse (DGCA) type of GCA. The samples had previously b...

journal_title：Cytogenetic and genome research

authors： Vauhkonen H,Vauhkonen M,Sipponen P,Knuutila S

更新日期：2007-01-01 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：: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：: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 article reviews the existing methods of multicolor FISH on nuclear targets, first of all, interphase chromosomes. FISH proper and image acquisition are considered as two related components of a single process. We discuss (1) M-FISH (combinatorial labeling + deconvolution + wide-field microscopy); (2) multicolor la...

journal_title：Cytogenetic and genome research

authors： Walter J,Joffe B,Bolzer A,Albiez H,Benedetti PA,Müller S,Speicher MR,Cremer T,Cremer M,Solovei I

更新日期：2006-01-01 00:00:00

abstract：:Merle is a distinct coat color and pattern found in numerous species, including the domestic dog, characterized by patches of diluted eumelanin (black pigment) interspersed among areas of normal pigmentation. In dogs, this variegated pattern is caused by an insertion of a SINE element into the canine PMEL gene. Althou...

journal_title：Cytogenetic and genome research

authors： Ballif BC,Ramirez CJ,Carl CR,Sundin K,Krug M,Zahand A,Shaffer LG,Flores-Smith H

更新日期：2018-08-03 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