全部文献期刊学位论文会议报纸专利标准年鉴图书|学者科研项目
中外文文献  中文文献  外文文献
作者:Alfonsi M. , Palka C. , Morizio E. ...
来源:[J].Cytogenetic and Genome Research(IF 1.839), 2012, Vol.136 (1), pp.1-5Karger
摘要:We report on an 18-month-old boy conceived by assisted reproduction technology with developmental delay, hypotonia, microcephaly, frontal bossing, a mild convergent squint, malformed ears, and a short neck. Karyotype analysis revealed a de novo 7q21.1q22.3 duplication characteriz...
作者:Yu S. , Fiedler S.D. , Brawner S.J. ...
来源:[J].Cytogenetic and Genome Research(IF 1.839), 2012, Vol.136 (1), pp.6-14Karger
摘要:Fourteen cases with constitutional small supernumerary marker chromosomes (sSMCs) were assessed by combination of diverse techniques including genome-wide high-resolution chromosomal microarray (CMA), chromosome banding analysis (G banding), fluorescence in situ hybridization (FI...
作者:Vlckova M. , Trkova M. , Zemanova Z. ...
来源:[J].Cytogenetic and Genome Research(IF 1.839), 2012, Vol.136 (1), pp.15-20Karger
摘要:Proximal 6q deletions have a milder phenotype than middle and distal 6q deletions. We describe 2 patients with non-overlapping deletions of about 15 and 19 Mb, respectively, which subdivide the proximal 6q region into 2 parts. The aberrations were identified using karyotyping and...
作者:Xanthopoulou L. , Ghevaria H. , Mantzouratou A. ...
来源:[J].Cytogenetic and Genome Research(IF 1.839), 2012, Vol.136 (1), pp.21-29Karger
摘要:Chromosome breakage is a fairly widespread phenomenon in preimplantation embryos affecting at least 10% of day 3 cleavage stage embryos. It may be detected during preimplantation genetic diagnosis (PGD). For carriers of structural chromosomal abnormalities, PGD involves th...
作者:Kitada K. , Aida S. , Aikawa S.
来源:[J].Cytogenetic and Genome Research(IF 1.839), 2012, Vol.136 (1), pp.30-37Karger
摘要:Coamplification of multiple segments of chromosome 2, including an MYCN -bearing segment, was examined in 2 cancer cell lines, NCI-H69 (lung cancer) and IMR-32 (neuroblastoma). High-resolution array-CGH analysis revealed 13 and 6 highly amplified segments located at different sit...
作者:Cheung K.J. , Rogic S. , Ben-Neriah S. ...
来源:[J].Cytogenetic and Genome Research(IF 1.839), 2012, Vol.136 (1), pp.38-43Karger
摘要:Follicular lymphoma (FL) cases with a t(14;18)(q32;q21) and minimal or no additional karyotypic alterations, such as copy number gains and losses and/or chromosomal rearrangements, may exhibit pathologic features and a clinical behavior similar to those with more complex karyotyp...
作者:Gmidè , ne A. , Avet-Loiseau H. ...
来源:[J].Cytogenetic and Genome Research(IF 1.839), 2012, Vol.136 (1), pp.44-49Karger
摘要:Cytogenetic studies in multiple myeloma (MM) are hampered by the hypo-proliferative nature of plasma cells. In order to circumvent this problem, we have used a combination of immunolabeling of cytoplasmic Ig light chains (λ or κ) and FISH (cIg-FISH), which allowed a ...
作者:Robb E.A. , Delany M.E.
来源:[J].Cytogenetic and Genome Research(IF 1.839), 2012, Vol.136 (1), pp.50-68Karger
摘要:Polydactyly (Po) is a common mutation found in many vertebrates. The UCD-Po.003 congenic chicken line was previously characterized for Po inheritance (autosomal dominant) and the mutation was mapped to chromosome 2p. Here, we describe for the first time the range and variability ...
作者:Faber-Hammond J. , Phillips R.B. , Park L.K.
来源:[J].Cytogenetic and Genome Research(IF 1.839), 2012, Vol.136 (1), pp.69-74Karger
摘要:Unlike other Pacific salmon, sockeye salmon (Oncorhynchus nerka) have an X1X2Y sex chromosome system, with females having a diploid chromosome number of 2n = 58 and males 2n = 57 in all populations examined. To determine the origin of the sockeye Y chromosom...
作者:Caceres M.E. , Pupilli F. , Ceccarelli M. ...
来源:[J].Cytogenetic and Genome Research(IF 1.839), 2012, Vol.136 (1), pp.75-81Karger
摘要:Cytogenetic and DNA molecular analyses have been carried out in 3 wheat introgression lines (ILs; CS×V58, CS×V59, and CS×V60) derived from Triticum aestivum cv. ‘Chinese Spring’ (CS) × Dasypyrum villosum (Dv) intergeneric hybridization. All lin...

我们正在为您处理中,这可能需要一些时间,请稍等。

资源合作:cnki.scholar@cnki.net, +86-10-82896619   意见反馈:scholar@cnki.net

×