Results 31 to 40 of about 268,399 (268)

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

open access: yesTaiwanese 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   +8 more
doaj   +1 more source

Major translocations in genetic counselling

open access: yesAsian Pacific Journal of Reproduction, 2012
Abstract Objective To review major chromosome translocation, with special regard to the clinical differences between balanced and unbalanced, as well as de novo and inherited cases. Methods The authors have included cases of major chromosome translocations detected during a 20-year period.
József Gábor Joó   +4 more
openaire   +1 more source

Genetic effects of Agropyron cristatum 2P chromosome translocation fragments in a wheat background

open access: yesJournal of Integrative Agriculture, 2023
Agropyron cristatum (2n=4x=28, PPPP) is a wild relative of common wheat which contains a large number of desirable genes that can be exploited for wheat improvement. Wheat–A.
Shi-rui XU   +9 more
doaj   +1 more source

Genomic Diversity and Clinical Variability in Pediatric Primary Cutaneous Anaplastic Large Cell Lymphoma: A Case Series

open access: yesPediatric Blood &Cancer, EarlyView.
ABSTRACT Primary cutaneous anaplastic large cell lymphoma (pcALCL) is a rare pediatric CD30‐positive T‐cell lymphoproliferative disorder with an excellent prognosis, but its genomic drivers are poorly defined. We report three children with skin‐limited disease demonstrating striking molecular heterogeneity, including NPM::ALK, NUP214::FRK, and a novel ...
Shoshana Greenberger   +7 more
wiley   +1 more source

Personalized Zebrafish Models for Fusion‐Positive Pediatric Sarcomas

open access: yesPediatric Blood &Cancer, EarlyView.
ABSTRACT Clinical sequencing efforts have revolutionized our approaches to categorizing pediatric cancers in real time. This has dramatically improved our ability to profile pediatric tumors, identify actionable vulnerabilities, and influence clinical care.
Lisa H. Hall   +2 more
wiley   +1 more source

Preimplantation genetic diagnosis by fluorescence in situ hybridization of reciprocal and Robertsonian translocations

open access: yesTaiwanese Journal of Obstetrics & Gynecology, 2014
Objective: The presence of reciprocal and Robertsonian chromosomal rearrangement is often related to recurrent miscarriage. Using preimplantation genetic diagnosis, the abortion rate can be decreased. Cases treated at our center were reviewed.
Chun-Kai Chen   +9 more
doaj   +1 more source

RECIPROCAL TRANSLOCATIONS AND TRANSLOCATION DISOMICS OF ASPERGILLUS AND THEIR USE FOR GENETIC MAPPING

open access: yesGenetics, 1975
ABSTRACT Two new techniques are described for genetic mapping of reciprocal translocations in A. nidulans, which can be used to locate centromeres and meiotically unlinked markers. They both make use of unbalanced disomics from heterozygous translocation crosses. These are mainly hyperhaploids of two classes: either typical-looking n + 1
openaire   +2 more sources

Clinical, Histopathological, and Molecular Characterization of Pediatric MN1::ZNF341‐Associated Cancer

open access: yesPediatric Blood &Cancer, EarlyView.
ABSTRACT A lethal round‐cell malignancy with an MN1::ZNF341 fusion has recently been reported in three infants. Here, we describe four further tumors, three in newborns (including monozygotic twins), and one in an adolescent. Detailed clinical, radiological, and histopathological data differentiate these tumors from their main mimics, neuroblastoma and
Thomas R. W. Oliver   +25 more
wiley   +1 more source

Enteropathogenic E. coli shows delayed attachment and host response in human jejunum organoid‐derived monolayers compared to HeLa cells

open access: yesFEBS Letters, EarlyView.
Enteropathogenic E. coli (EPEC) infects the human intestinal epithelium, resulting in severe illness and diarrhoea. In this study, we compared the infection of cancer‐derived cell lines with human organoid‐derived models of the small intestine. We observed a delayed in attachment, inflammation and cell death on primary cells, indicating that host ...
Mastura Neyazi   +5 more
wiley   +1 more source

Organoids in pediatric cancer research

open access: yesFEBS Letters, EarlyView.
Organoid technology has revolutionized cancer research, yet its application in pediatric oncology remains limited. Recent advances have enabled the development of pediatric tumor organoids, offering new insights into disease biology, treatment response, and interactions with the tumor microenvironment.
Carla Ríos Arceo, Jarno Drost
wiley   +1 more source

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