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
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作者:Moni Tuteja , Divya Agarwal , Shubha R. Phadke
来源:[J].Indian Pediatrics(IF 1.036), 2017, Vol.54 (10), pp.879-881Springer
摘要:Balanced translocations are common with the incidence of 1 in 500.
作者:LinSheng Wang , PeiDu Chen , XiuE Wang
来源:[J].Chinese Science Bulletin(IF 1.319), 2010, Vol.55 (11), pp.1026-1031Springer
摘要:Abstract(#br)In order to induce chromosome translocation between wheat chromosomes and chromosome 5Lr of Leymus racemosus , the microsporocytes during meiosis of T. aestivum-L. racemosus disomic addition line DA5Lr were irradiated by 60 Co γ-rays 800 R (100 R/min). Before flo...
作者:Sefa Resim , Erkan Efe , Ateş Kadıoğlu ...
来源:[J].Balkan Medical Journal(IF 0.076), 2013, Vol.30 (2), pp.250-252DOAJ
摘要:Background: Carriers of structural chromosomal rearrangements such as Robertsonian or reciprocal translocations have an increased risk of spontaneous abortion and producing offspring with genetic abnormalities. Case Report: We report a man with balanced chromosomal translocations...
作者:Chu-Chun Huang , Li-Jung Chang , Yi-Yi Tsai ...
来源:[J].Journal of the Formosan Medical Association(IF 1), 2013, Vol.112 (9), pp.537-544Elsevier
摘要:Background/Purpose(#br)Patients with chromosomal translocation are highly vulnerable to produce unbalanced gametes that result in recurrent miscarriages, affected offspring, or infertility. Preimplantation genetic diagnosis (PGD) with blastomere biopsy and fluorescent in-situ hyb...
作者:Chu-Chun Huang , Li-Jung Chang , Yi-Yi Tsai ...
来源:[J].Journal of the Formosan Medical Association(IF 1), 2013, Vol.112 (9), pp.537-544DOAJ
摘要:Patients with chromosomal translocation are highly vulnerable to produce unbalanced gametes that result in recurrent miscarriages, affected offspring, or infertility. Preimplantation genetic diagnosis (PGD) with blastomere biopsy and fluorescent in-situ hybridization (FISH) has b...
作者:Verma S , Shah R , Bhat A ...
来源:[J].Balkan Journal of Medical Genetics(IF 0.077), 2018, Vol.21 (2), pp.73-77De Gruyter
摘要:Abstract The importance of cytogenetic analysis in a family with reproductive failure in two siblings is highlighted, where two siblings and their mother presented with a balanced translocation between chromosomes 13;22. The clinical evaluation had shown the female to be normal a...
作者:Mikiko Kaneko , Hirofumi Ohashi , Tomoko Takamura ...
来源:[J].Journal of Genetic Counseling(IF 1.454), 2015, Vol.24 (6), pp.922-930Springer
摘要:... To identify the impact on balanced translocation carriers identified through affected offspring, we conducted semi-structured interviews with eleven parents at Saitama Children’s Medical Center. The results of the interviews were analyzed qualitatively by the KJ (Kawakita ...
作者:Daniel J Trombly , Troy W Whitfield , Srivatsan Padmanabhan ...
来源:[J].BMC Genomics(IF 4.397), 2015, Vol.16 (1)Springer
摘要:Abstract(#br) Background(#br)Many leukemias result from chromosomal rearrangements. The t(8;21) chromosomal translocation produces AML1-ETO, an oncogenic fusion protein that compromises the function of AML1, a transcription factor critical for myeloid cell differentiation. Becaus...
作者:Gadhia P.K. , Shastri G.D. , Shastri E.G.
来源:[J].Balkan Journal of Medical Genetics(IF 0.077), 2014, Vol.17 (1), pp.69-71De Gruyter
摘要:... We report a young adult male with a novel translocation in ALL, who had vague (uncertain) minimal symptoms and splenomegaly. The patient had a unique cytogenetic abnormality: 45,XY,der(9)t(9;12)(p24;q12),-12, which has not been previously described in ALL. This is categorized...
作者:Masashi Numata , Shoko Saito , Kyosuke Nagata
来源:[J].Biochemical and Biophysical Research Communications(IF 2.406), 2010, Vol.402 (4), pp.718-724Elsevier
摘要:... It has long been proposed that mis-targeting of RAG proteins is one of the factors contributing to lymphoid chromosomal translocation bearing authentic recombination signal sequences (RSSs) in immunoglobulin ( Ig ) and T cell receptor ( TCR ) gene loci or cryptic RSSs (cRSSs)...

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