- Clinical and Molecular Characterization of a Combined 17p13.3 Microdeletion with Partial Monosomy 21q21.3 in a 26-Year-Old Man
[作者:Hannachi, H; Mougou-Zerelli, S; BenAbdallah, I; Mama, N; Hamdi, I; Labalme, A; Elghezal, H; Sanlaville, D; Saad, A,期刊:Cytogenetic and Genome Research, 页码:102-110 , 文章类型: Article,,卷期:2011年135-2]
- We led a clinical and molecular characterization of a patient with mild mental delay and dysmorphic features initially referred for cytogenetic exploration of an azoospermia. We employed FISH and array CGH techniques for...
- Phosphorylation of Histone H3S10 in Animal Chromosomes: Is There a Uniform Pattern?
[作者:Sotero-Caio, CG; de Souza, MJ; Cabral-de-Mello, DC; Brasileiro-Vidal, AC; Guerra, M,期刊:Cytogenetic and Genome Research, 页码:111-117 , 文章类型: Article,,卷期:2011年135-2]
- Phosphorylation of serine 10 in histone H3 (H3S10ph) has been extensively analyzed and appears to be a conserved chromatin change associated with chromosome condensation in different eukaryotic organisms. In this work, w...
- Physical Mapping of Innate Immune Genes, Mucins and Lysozymes, and Other Non-Mucin Proteins in the Tammar Wallaby (Macropus eugenii)
[作者:Edwards, MJ; Hinds, LA; Deane, EM; Deakin, JE,期刊:Cytogenetic and Genome Research, 页码:118-125 , 文章类型: Article,,卷期:2011年135-2]
- Sequencing of the tammar wallaby (Macropus eugenii) genome has the potential to be an extremely valuable resource for investigating evolutionary and developmental aspects of the mammalian immune system. However, the tamm...
- A New Allopatric Lineage of the Rodent Deltamys (Rodentia: Sigmodontinae) and the Chromosomal Evolution in Deltamys kempi and Deltamys sp.
[作者:Ventura, K; Fagundes, V; D'Elia, G; Christoff, AU; Yonenaga-Yassuda, Y,期刊:Cytogenetic and Genome Research, 页码:126-134 , 文章类型: Article,,卷期:2011年135-2]
- Deltamys Thomas 1917 is a poorly studied and rarely collected taxon of Akodontini (Sigmodontinae). The single described species, Deltamys kempi (DKE), has a basic karyotype with a diploid number of 2n = 37 in males and 2...
- Isolation of a Cancer-Associated Microchromosome in the Sperm-Dependent Parthenogen Poecilia formosa
[作者:Lamatsch, DK; Trifonov, V; Schories, S; Epplen, JT; Schmid, M; Schartl, M,期刊:Cytogenetic and Genome Research, 页码:135-142 , 文章类型: Article,,卷期:2011年135-2]
- In the asexual all-female fish species Poecilia formosa, the Amazon molly, supernumerary chromosomes have frequently been found in both laboratory-reared and wild-caught individuals. While wild-caught individuals with B ...
- Repetitive DNA and Meiotic Behavior of Sex Chromosomes in Gymnotus pantanal (Gymnotiformes, Gymnotidae)
[作者:da Silva, M; Matoso, DA; Vicari, MR; de Almeida, MC; Margarido, VP; Artoni, RF,期刊:Cytogenetic and Genome Research, 页码:143-149 , 文章类型: Article,,卷期:2011年135-2]
- Neotropical fishes have a low rate of chromosome differentiation between sexes. The present study characterizes the first meiotic analysis of sex chromosomes in the order Gymnotiformes. Gymnotus pantanal-females had 40 c...
- Human BRCA1-Associated Breast Cancer: No Increase in Numerical Chromosomal Instability Compared to Sporadic Tumors
[作者:Focken, T; Steinemann, D; Skawran, B; Hofmann, W; Ahrens, P; Arnold, N; Kroll, P; Kreipe, H; Schlegelberger, B; Gadzicki, D,期刊:Cytogenetic and Genome Research, 页码:84-92 , 文章类型: Article,,卷期:2011年135-2]
- BRCA1 is a major gatekeeper of genomic stability. Acting in multiple central processes like double-strand break repair, centrosome replication, and checkpoint control, BRCA1 participates in maintaining genomic integrity ...
- De novo Interstitial Triplication of MECP2 in a Girl with Neurodevelopmental Disorder and Random X Chromosome Inactivation
[作者:Mayo, S; Monfort, S; Rosello, M; Orellana, C; Oltra, S; Armstrong, J; Catala, V; Martinez, F,期刊:Cytogenetic and Genome Research, 页码:93-101 , 文章类型: Article,,卷期:2011年135-2]
- 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 stereoty...
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