- Severe Phenotype in a Girl with Partial Tetrasomy 7, Karyotype 46,XX,trp(7)(q35q36)
[作者:Lehnen, H; Maiwald, R; Neyzen, S; Kohlhase, J; Bohm, D; Ritterbach, J; Behrend, C; Schwennicke, G,期刊:Cytogenetic and Genome Research, 页码:248-252 , 文章类型: Article,,卷期:2009年125-3]
- On prenatal ultrasonography, polyhydramnion, internal hydrocephalus, hypoplasia of the corpus callosum, and dysmorphic features were detected in a fetus of a 22-year-old mother. Subsequent karyotyping of amniocytes revea...
- Topo III alpha and BLM Act within the Fanconi Anemia Pathway in Response to DNA-Crosslinking Agents
[作者:Hemphill, AW; Akkari, Y; Newell, AH; Schultz, RA; Grompe, M; North, PS; Hickson, ID; Jakobs, PM; Rennie, S; Pauw, D; Hejna, J; Olson, SB; Moses, RE,期刊:Cytogenetic and Genome Research, 页码:165-175 , 文章类型: Article,,卷期:2009年125-3]
- The Bloom protein (BLM) and Topoisomerase III alpha are found in association with proteins of the Fanconi anemia ( FA) pathway, a disorder manifesting increased cellular sensitivity to DNA crosslinking agents. In order t...
- Targeted Disruption of the Mouse Npal3 Gene Leads to Deficits in Behavior, Increased IgE Levels, and Impaired Lung Function
[作者:Grzmil, P; Konietzko, J; Boehm, D; Hoelter, SM; Aguilar, A; Javaheri, A; Kalaydjiev, S; Adler, T; Bolle, I; Adham, I; Dixkens, C; Wolf, S; Fuchs, H; Gailus-Durne, V; Wurst, W; Ollert, M; Busch, D; Schulz, H; de Angelis, MH; Burfeind, P,期刊:Cytogenetic and Genome Research, 页码:186-200 , 文章类型: Article,,卷期:2009年125-3]
- The non-imprinted in Prader-Willi/Angelman syndrome (NIPA) proteins are highly conserved receptors or transporters. Translocation of NIPA genes were found in patients with Prader-Willi syndrome, and loss-of-function of t...
- The Chromosomal Constitution of Postmitotic Neurons, Assessed by Neuronal Nuclear Transfer into Oocytes and in ES Cell Lines Derived from Them
[作者:Osada, T; Kakazu, N; Watanabe, M; Yamane, H; Yagi, T,期刊:Cytogenetic and Genome Research, 页码:201-212 , 文章类型: Article,,卷期:2009年125-3]
- Spectral karyotyping (SKY) was used to assess the chromosomal constitution of embryos generated by nuclear transfer (NT) of neuronal nuclei (N-NT) or cumulus cell nuclei (C-NT) into oocytes and of their embryonic stem ce...
- Karyological Characterization of the Butterfly Lizard (Leiolepis reevesii rubritaeniata, Agamidae, Squamata) by Molecular Cytogenetic Approach
[作者:Srikulnath, K; Matsubara, K; Uno, Y; Thongpan, A; Suputtitada, S; Apisitwanich, S; Matsuda, Y; Nishida, C,期刊:Cytogenetic and Genome Research, 页码:213-223 , 文章类型: Article,,卷期:2009年125-3]
- Karyological characterization of the butterfly lizard (Leiolepis reevesii rubritaeniata) was performed by conventional Giemsa staining, Ag-NOR banding, FISH with the 18S-28S and 5S rRNA genes and telomeric (TTAGGG)n sequ...
- Organization of Repeated DNA Elements in the Genome of the Cichlid Fish Cichla kelberi and Its Contributions to the Knowledge of Fish Genomes
[作者:Teixeira, WG; Ferreira, IA; Cabral-De-Mello, DC; Mazzuchelli, J; Valente, GT; Pinhal, D; Poletto, AB; Venere, PC; Martins, C,期刊:Cytogenetic and Genome Research, 页码:224-234 , 文章类型: Article,,卷期:2009年125-3]
- Repeated DNA elements have been extensively applied as physical chromosome markers in comparative studies for the identification of chromosomal rearrangements, the identification of sex chromosomes, chromosome evolution ...
- Haploinsufficiency of 16.4 Mb from Chromosome 22pter-q11.21 in a Girl with Unilateral Conductive Hearing Loss
[作者:Damatova, N; Beyer, V; Galetzka, D; Schneider, E; Napiontek, U; Keilmann, A; Zechner, U; Bartsch, O; Haaf, T,期刊:Cytogenetic and Genome Research, 页码:241-247 , 文章类型: Article,,卷期:2009年125-3]
- We present the postnatal diagnosis of a de novo der(18)t(18; 22)(p11.32; q11.21) pat, resulting in an unbalanced 45, XX, der (18) t(18; 22) karyotype in a girl with conductive hearing loss on the left and ptosis of the r...
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