Results 31 to 40 of about 468,666 (268)

Cytogenetic findings in patients with intellectual disability and/or multiple congenital anomalies [PDF]

open access: yesJournal of Analytical Research in Clinical Medicine, 2016
Introduction: Chromosomal abnormalities are a major etiology of intellectual disability (ID) and multiple congenital anomalies (MCAs). Screening for chromosomal aberrations by clinical diagnostic techniques has been primarily performed ...
Sima Derakhshan, Mahmoud Khaniani
doaj   +1 more source

Analysis of high risk factors for chromosomal aberrations in peripheral blood lymphocytes of 200 radiation workers in Hainan Province

open access: yesShanghai yufang yixue, 2023
ObjectiveTo investigate the current status and high-risk factors of chromosomal aberrations in peripheral blood lymphocytes (PBL) of radiation workers in Hainan Province.MethodsA total of 200 radiological workers who underwent occupational health ...
ZHANG Yuhong   +5 more
doaj   +1 more source

Holocentric chromosomes

open access: yesPLOS Genetics, 2020
Holocentric chromosomes possess multiple kinetochores along their length rather than the single centromere typical of other chromosomes [1]. They have been described for the first time in cytogenetic experiments dating from 1935 and, since this first observation, the term holocentric chromosome has referred to chromosomes that: i.
Mauro Mandrioli, Gian Carlo Manicardi
openaire   +5 more sources

Could the mosaic pattern of chromosomal abnormality predict overall survival of patients with myelodysplastic syndrome?

open access: yesHematology/Oncology and Stem Cell Therapy, 2016
Objective/background: Myelodysplastic syndromes (MDSs) are a group of monoclonal hematopoietic diseases consisting of a number of various entities.
Mehmet Sevki Uyanik   +7 more
doaj   +1 more source

Rare chromosomal abnormalities: Can they be identified using conventional first trimester combined screening methods?

open access: yesEuropean Journal of Obstetrics & Gynecology and Reproductive Biology: X, 2021
Objective: To evaluate the performance of first trimester combined screening for the detection of rare chromosomal abnormalities, other than Trisomies 21, 18 or 13 or 45 × . Study design: A database containing 36,254 pregnancies was analyzed.
Daniel Kane   +2 more
doaj   +1 more source

Chromosomal deletions detected at amniocentesis

open access: yesTaiwanese Journal of Obstetrics & Gynecology, 2014
Objective: The aim of this study is to present the incidence, prenatal and postnatal findings, and modes of ascertainment in chromosomal deletions detected at amniocentesis.
Chen-Ju Lin   +10 more
doaj   +1 more source

Preferences of Pediatric Patients and Their Caregivers for Chemotherapy‐Induced Nausea and Vomiting Control Endpoints: A Mixed Methods Study

open access: yesPediatric Blood &Cancer, EarlyView.
ABSTRACT Purpose Although not always achieved, complete chemotherapy‐induced nausea and vomiting (CINV) control is the conventional goal of CINV prophylaxis. In this two‐center, mixed‐methods study, we sought to understand the preferences of adolescent patients and family caregivers for CINV control endpoints.
Haley Newman   +8 more
wiley   +1 more source

Chromosomal Speciation Revisited: Modes of Diversification in Australian Morabine Grasshoppers (Vandiemenella, viatica Species Group)

open access: yesInsects, 2011
Chromosomal rearrangements can alter the rate and patterns of gene flow within or between species through a reduction in the fitness of chromosomal hybrids or by reducing recombination rates in rearranged areas of the genome.
Steven J. B. Cooper   +2 more
doaj   +1 more source

Protein pyrophosphorylation by inositol pyrophosphates — detection, function, and regulation

open access: yesFEBS Letters, EarlyView.
Protein pyrophosphorylation is an unusual signaling mechanism that was discovered two decades ago. It can be driven by inositol pyrophosphate messengers and influences various cellular processes. Herein, we summarize the research progress and challenges of this field, covering pathways found to be regulated by this posttranslational modification as ...
Sarah Lampe   +3 more
wiley   +1 more source

The newfound relationship between extrachromosomal DNAs and excised signal circles

open access: yesFEBS Letters, EarlyView.
Extrachromosomal DNAs (ecDNAs) contribute to the progression of many human cancers. In addition, circular DNA by‐products of V(D)J recombination, excised signal circles (ESCs), have roles in cancer progression but have largely been overlooked. In this Review, we explore the roles of ecDNAs and ESCs in cancer development, and highlight why these ...
Dylan Casey, Zeqian Gao, Joan Boyes
wiley   +1 more source

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