- A complex medical phenotype in a patient with triplication of 2q12.3 to 2q13 characterized with oligonucleotide array CGH
[作者:Mercer, CL; Browne, CE; Barber, JCK; Maloney, VK; Huang, S; Thomas, NS; Foulds, N,期刊:Cytogenetic and Genome Research, 页码:179-186 , 文章类型: Article,,卷期:2009年124-2]
- We report an adult female with a left polycystic kidney, patent ductus arteriosus, left streak ovary, bicornuate uterus and deafness who presented with infertility. She has an intrachromosomal triplication of bands 2q12....
- Refining the 22q11.2 deletion breakpoints in DiGeorge syndrome by aCGH
[作者:Bittel, DC; Yu, S; Newkirk, H; Kibiryeva, N; Holt, A; Butler, MG; Cooley, LD,期刊:Cytogenetic and Genome Research, 页码:113-120 , 文章类型: Article,,卷期:2009年124-2]
- Hemizygous deletions of the chromosome 22q11.2 region result in the 22q11.2 deletion syndrome also referred to as DiGeorge, Velocardiofacial or Shprintzen syndromes. The phenotype is variable but commonly includes conotr...
- Telomeric associations correlate with telomere length reduction and clonal chromosome aberrations in giant cell tumor of bone
[作者:Gebre-Medhin, S; Broberg, K; Jonson, T; Gorunova, L; von Steyern, FV; Brosjo, O; Jin, Y; Gisselsson, D; Panagopoulos, I; Mandahl, N; Mertens, F,期刊:Cytogenetic and Genome Research, 页码:121-127 , 文章类型: Article,,卷期:2009年124-2]
- Giant cell tumor of bone (GCTB) is characterized cytogenetically by frequent telomeric associations (tas). To explore the mechanisms behind the formation of tas in GCTB and to investigate their karyotypic consequences, t...
- Interstitial telomeric sequences (ITSs) are not located at the exact evolutionary breakpoints in primates
[作者:Farre, M; Ponsa, M; Bosch, M,期刊:Cytogenetic and Genome Research, 页码:128-131 , 文章类型: Article,,卷期:2009年124-2]
- Although their function has not yet been clearly elucidated, interstitial telomeric sequences (ITSs) have been cytogenetically associated with chromosomal reorganizations, fragile sites, and recombination hotspots. In th...
- Evidence for association of lymphoid enhancer-binding factor-1 (LEF1) with the number of functional and inverted teats in pigs
[作者:Tetzlaff, S; Jonas, E; Phatsara, C; Murani, E; Ponsuksili, S; Schellander, K; Wimmers, K,期刊:Cytogenetic and Genome Research, 页码:139-146 , 文章类型: Article,,卷期:2009年124-2]
- The lymphoid enhancer-binding factor-1 (LEF1) belongs to a family of regulatory proteins that share homology with the high mobility group protein-1 (HMG1). The LEF1 gene is a mediator in the canonical Wnt-signalling path...
- Conservation of a chromosome arm in two distantly related marsupial species
[作者:Mohammadi, A; Delbridge, ML; Waters, PD; Graves, JAM,期刊:Cytogenetic and Genome Research, 页码:147-150 , 文章类型: Article,,卷期:2009年124-2]
- Marsupials, which diverged from eutherian mammals 150 million years ago (MYA), occupy a phylogenetic position that is very valuable in genome comparisons of mammal and other vertebrate species. Within the marsupials, the...
- Repetitive DNA probe linked to sex chromosomes in hybrids between Neotropical fish Leporinus macrocephalus and Leporinus elongatus (Characiformes, Anostomidae)
[作者:Hashimoto, DT; Parise-Maltempi, PP; Laudicina, A; Bortolozzi, J; Senhorini, JA; Foresti, F; Porto-Foresti, F,期刊:Cytogenetic and Genome Research, 页码:151-157 , 文章类型: Article,,卷期:2009年124-2]
- Interspecific hybrids of fish can offer important advances in the zootechnical exploration of this animal group. However, hybrids can pose serious biological risks to the environment and natural populations, making genet...
- Chromosome pairing of individual genomes in tall fescue (Festuca arundinacea Schreb.), its progenitors, and hybrids with Italian ryegrass (Lolium multiflorum Lam.)
[作者:Kopecky, D; Bartos, J; Zwierzykowski, Z; Dolezel, J,期刊:Cytogenetic and Genome Research, 页码:170-178 , 文章类型: Article,,卷期:2009年124-2]
- A diploid-like pairing system prevents meiotic irregularities and improves the efficiency of gamete production in allo-polyploid species. While the nature of the system is known in some polyploid crops including wheat, l...
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