Results 1 to 10 of about 31,423 (169)
Hematology/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
BMC Medical Genomics, 2021 Background Emerging studies suggest that low‐coverage massively parallel copy number variation sequencing (CNV-seq) more sensitive than chromosomal microarray analysis (CMA) for detecting low-level mosaicism.
Na Ma +11 more
doaj +1 more source
Prenatal diagnosis and pregnancy outcomes of mosaicism detected by CMA-seq
BMC Pregnancy and ChildbirthBackground The aim of this study was to investigate the detection capability of medium-coverage whole-genome sequencing for chromosomal mosaicism in prenatal diagnosis, and to evaluate the pregnancy outcome of mosaicism.
Jiazhen Chang +7 more
doaj +1 more source
European Journal of Human Genetics, 2011 Hydatidiform mole (HM) is an abnormal human pregnancy, where the placenta presents with vesicular swelling of the chorionic villi. A fetus is either not present, or malformed and not viable. Most moles are diploid androgenetic as if one spermatozoon fertilized an empty oocyte, or triploid with one maternal and two paternal chromosome sets as if two ...
Sunde, Lone; id_orcid 0000-0002-8479-165X +6 more
openaire +3 more sources
Taiwanese Journal of Obstetrics & GynecologyObjective: We present mosaic distal 13q duplication due to mosaic unbalanced translocation 46,XY,der(14)t(13;14)(q32.2;p13)/46,XY at amniocentesis in a pregnancy associated with a favorable fetal outcome.
Chih-Ping Chen +9 more
doaj +1 more source
The photoreceptor mosaic [PDF]
Eye, 1998 The organisation of the human photoreceptor mosaic reflects evolutionary strategies for optimising visual information under a wide range of stimulus conditions: (1) The rod population dominates (max. 170,000/mm2 at c. 30 degrees sup.) except for the central 2 degrees and along the ora serrata.
openaire +2 more sources
BiomedicinesBackground/Objectives: Mosaicism in preimplantation embryos has important implications for embryo selection and reproductive outcomes. This study investigates the age-related frequency of mosaicism, analyzes its subtypes, and evaluates its clinical ...
Min Seo Jeon +9 more
doaj +1 more source
Characteristics and mechanisms of mosaicism in prenatal diagnosis cases by application of SNP array
Molecular Cytogenetics, 2023 Background With the application of chromosome microarray, next-generation sequencing and other highly sensitive genetic techniques in disease diagnosis, the detection of mosaicism has become increasingly prevalent.
Lili Zhou +5 more
doaj +1 more source
Cell Cycle, 2012 "RASopathies" are a group of developmental syndromes with partly overlapping clinical symptoms that are caused by germline mutations of genes within the Ras/MAPK signaling pathway. Mutations affecting this pathway can also occur in a mosaic state, resulting in congenital syndromes often distinct from those generated by the corresponding germline ...
Christian, Hafner, Leopold, Groesser
openaire +2 more sources
Frontiers in PediatricsIntroductionKnowledge about mosaicism in cryopyrin-associated periodic syndromes (CAPS) has expanded significantly with the use of next generation sequencing technologies.
Sonia Melo Gomes +10 more
doaj +1 more source