Results 171 to 180 of about 276,706 (214)

Single Nucleotide Polymorphism Microarray Analysis Unveils Copy-Number Abnormalities and Genetic Heterogeneity in Malaysian Childhood B-Cell Precursor Acute Lymphoblastic Leukemia. [PDF]

open access: yesMol Genet Genomic Med
Mohd Dali NS   +12 more
europepmc   +1 more source

Genetic counseling in translocations

Urologic Clinics of North America, 2002
Advances in the treatment of male infertility-specifically intracytoplasmic sperm injection have now resulted in greater recognition of the clinical significance of genetic translocations. This article focuses on the different types of translocations (Robertsonian, reciprocal) as well as on the prevalence and incidence of translocations in infertile ...
Joe Leigh, Simpson, Farideh, Bischoff
openaire   +2 more sources

Partners with reciprocal translocations: genetic counseling for the ‘double translocation’

Clinical Genetics, 1998
SV at age 2 years presented with multiple congenital anomalies including an absent left kidney, anal stenosis, vertebral abnormalities, partial sacral agenesis, microcephaly, dysmorphic facial features, growth deficiency, and developmental delay. She was found to have a complex chromosomal rearrangement derived from balanced translocations in each ...
L, Cook, J K, Hartsfield, G H, Vance
openaire   +2 more sources

Gross Deletions and Translocations in Human Genetic Disease

2006
Translocations and gross deletions constitute an important cause of both cancer and inherited disease. Such gene rearrangements are non-randomly distributed in the human genome as a consequence of selection for growth advantage and/or the inherent potential of some DNA sequences to be frequently involved in breakage and recombination.
S S, Abeysinghe   +2 more
openaire   +2 more sources

The SecY translocation complex: convergence of genetics and structure

Trends in Microbiology, 2007
All organisms share a requirement for translocation of proteins across membranes. The major mechanism for this process is the universally conserved SecY/Sec61 pathway. Many years of extensive genetic and biochemical analyses identified the components of the SecY/Sec61 pathway, demonstrated that most exported proteins use this route for translocation ...
openaire   +2 more sources

[Preimplantation genetic diagnosis of translocation].

Zhonghua fu chan ke za zhi, 2011
To observe the genetic characteristics of chromosomes and the rates of implantation and pregnancy in couples of translocation carriers who undergo preimplantation genetic diagnosis (PGD) and to evaluate the significance of PGD in the treatment of translocation carriers.Fluorescence in situ hybridization (FISH) was performed to analyze the embryos of 12
Yu-Li, Qian   +5 more
openaire   +1 more source

Protein translocationin vitro: Biochemical characterization of genetically defined translocation components

Journal of Bioenergetics and Biomembranes, 1990
Recent years have seen the convergence of both genetic and biochemical approaches in the study of protein translocation in E. coli. The powerful combination of these approaches is exemplified in the use of an in vitro protein synthesis-protein translocation system to analyze the role of genetically defined components of the protein translocation ...
J, Fandl, P C, Tai
openaire   +2 more sources

[Genetic counseling in reciprocal translocations].

Journal de genetique humaine, 1988
Segregation modes of human reciprocal translocations are briefly described. Risk figures and mode of imbalance at term differ greatly from one translocation to another. The causes of these variations are analysed and a genetic counselling proposed for each case.
openaire   +1 more source

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