Results 81 to 90 of about 483,022 (266)

Large duplications at reciprocal translocation breakpoints that might be the counterpart of large deletions and could arise from stalled replication bubbles.

Genome Research, 2011
Reciprocal chromosome translocations are often not exactly reciprocal. Most familiar are deletions at the breakpoints, up to megabases in extent. We describe here the opposite phenomenon-duplication of tens or hundreds of kilobases at the breakpoint ...
K. Howarth, J. Pole, J. C. Beavis, E. Batty, S. Newman, G. Bignell, P. Edwards   +6 more
semanticscholar   +1 more source

Familial intellectual disability as a result of a derivative chromosome 22 originating from a balanced translocation (3;22) in a four generation family

Molecular Cytogenetics, 2018
Background Balanced reciprocal translocation is usually an exchange of two terminal segments from different chromosomes without phenotypic effect on the carrier while leading to increased risk of generating unbalanced gametes.
Kaihui Zhang, Yan Huang, Rui Dong, Yali Yang, Ying Wang, Haiyan Zhang, Yufeng Zhang, Zhongtao Gai, Yi Liu   +8 more
doaj   +1 more source

A New Approach for Accurate Detection of Chromosome Rearrangements That Affect Fertility in Cattle

Animals, 2020
Globally, cattle production has more than doubled since the 1960s, with widespread use of artificial insemination (AI) and an emphasis on a small pool of high genetic merit animals.
Rebecca L. Jennings, Darren K. Griffin, Rebecca E. O’Connor   +2 more
doaj   +1 more source

Chromosome segregation analysis in human embryos obtained from couples involving male carriers of reciprocal or Robertsonian translocation. [PDF]

PLoS ONE, 2012
The objective of this study was to investigate the frequency and type of chromosome segregation patterns in cleavage stage embryos obtained from male carriers of Robertsonian (ROB) and reciprocal (REC) translocations undergoing preimplantation genetic ...
Ahmet Yilmaz, Xiao Yun Zhang, Jin-Tae Chung, Seang Lin Tan, Hananel Holzer, Asangla Ao   +5 more
doaj   +1 more source

Common variations in ALG9 are not associated with bipolar I disorder: A family-based study [PDF]

, 2006
Background: A mannosyltransferase gene (ALG9, DIBD I) at chromosome band 11q23 was previously identified to be disrupted by a balanced chromosomal translocation t(9; 11)(p24;q23) co-segregating with bipolar affective disorder in a small family.
Bacuna, SA, Baysal, BE, Detera-Wadleigh, S, Nimgaonkar, VL, Willet-Brozick, JE   +4 more
core   +4 more sources

Concomitance of 47,XXY, a balanced reciprocal translocation of t(4;17)(q12;q11.2) encompassing SPINK2 at 4q12 and NOS at 17q11.2 and an AZFa sY86 deletion in an infertile male

Taiwanese Journal of Obstetrics & Gynecology, 2023
Objective: We present an infertile male who was incidentally detected to have Klinefelter syndrome, a balanced reciprocal translocation of t(4; 17) (q12; q11.2) and an AZFa sY86 deletion. We review the literature and discuss the significance of 47,XXY, t(
Fang-Tzu Wu, Chih-Ping Chen, Shin-Wen Chen, Schu-Rern Chern, Po-Tsang Chen, Chien-Ling Chiu, Chen-Chi Lee, Wen-Lin Chen, Wayseen Wang   +8 more
doaj  

The use of an e-learning constructivist solution in workplace learning [PDF]

, 2009
We wished to investigate whether an e-learning approach which uses constructivist principles can be successfully applied to train employees in a highly specialised skill thought to require expert individuals and extensive prolonged training. The approach
A. Mileham, A.M. Payne, Anderson, Atkinson, Brown, Brown, Carroll, Carroll, D.K. Griffin, de Jong, Dewhurst, Ducos, Ducos, Ducos, Ducos, Duffy, Farmer, Gibbons, Gibbons, Green, H.G. Tempest, Heerman, Holt, Hughes, Ivancic, J.E. Stephenson, Jonassen, Knowles, Knowles, Kofman, Leathard, Maury, Miller, Modell, Pinton, Popescu, Quilter, Rieber, Smith, van Merrienboer, W.B. Morris, Wang, Wolstenholme   +42 more
core   +1 more source

THE INCIDENCE AND TYPE OF CHROMOSOMAL TRANSLOCATIONS FROM PRENATAL DIAGNOSIS OF 3800 PATIENTS IN THE REPUBLIC OF MACEDONIA

Balkan Journal of Medical Genetics, 2013
Robertsonian and reciprocal chromosomal translocations are the most frequent type of structural chromosomal aberrations in the human population. We report the frequency and type of detected translocations in 10 years of prenatal diagnosis of 3800 ...
Vasilevska M., Ivanovska E., Kubelka Sabit K., Sukarova-Angelovska E., Dimeska G.   +4 more
doaj   +1 more source

Efficient Interaction between Two GTPases Allows the Chloroplast SRP Pathway to Bypass the Requirement for an SRP RNA [PDF]

, 2007
Cotranslational protein targeting to membranes is regulated by two GTPases in the signal recognition particle (SRP) and the SRP receptor; association between the two GTPases is slow and is accelerated 400-fold by the SRP RNA.
Chandrasekar, Sowmya, Jaru-Ampornpan, Peera, Shan, Shu-ou   +2 more
core   +3 more sources

Multi-environment QTL mixed models for drought stress adaptation in wheat [PDF]

, 2008
Many quantitative trait loci (QTL) detection methods ignore QTL-by-environment interaction (QEI) and are limited in accommodation of error and environment-specific variance.
Chapman, S., Eeuwijk, F.A., van, Malosetti, M., Mathews, K.L., McIntyre, L., Reynolds, M., Shorter, R.   +6 more
core   +2 more sources