Results 41 to 50 of about 31,423 (169)

Recurrent DNA break clusters drive replication-stress-induced copy number variants and genome diversification

open access: yesNature Communications
Copy number variants (CNVs) are strongly implicated in neurological and psychiatric disorders and brain cancer, yet the process by which replication stress generates CNVs—and why some recur while others remain rare—remains poorly understood.
Lorenzo Corazzi   +17 more
doaj   +1 more source

ON MOSAIC CRYSTALS

open access: yesProceedings of the National Academy of Sciences, 1929
Very little progress has been made during the last decade toward a theoretical understanding of the physical properties of matter in the solid state. The reasons for this stagnation are very clearly presented in a recent paper by A. Smekal.(1) According to Smekal, the properties of solids can be arranged in two large groups as follows.
openaire   +3 more sources

Categories of Cutaneous Mosaicism

open access: yesJEADV Clinical Practice
In this overview, the following 12 different categories of cutaneous mosaicism are considered: (1) Discrimination between monoallelic and biallelic mosaicism in autosomal dominant traits; (2) Segmental versus disseminated mosaicism in autosomal dominant ...
Rudolf Happle
doaj   +1 more source

Surface mosaics [PDF]

open access: yesThe Visual Computer, 2006
This paper considers the problem of placing mosaic\ud tiles on a surface to produce a surface mosaic. We assume\ud that the user specifies a mesh model, the size of the\ud tiles and the amount of grout, and optionally, a few control\ud vectors at key locations on the surface indicating the\ud preferred tile orientation at these points.
Yu-Kun Lai   +2 more
openaire   +2 more sources

Pigmentary Mosaicism: An Overview

open access: yesJEADV Clinical Practice
Mosaicism refers to an individual who developed from a single fertilised egg but has two or more populations of cells with a different genotype as a result of a postzygotic mutation.
C. Colmant   +3 more
doaj   +1 more source

Cytogenetic abnormalities in a sample of females with premature ovarian failure

open access: yesMiddle East Fertility Society Journal, 2022
Background Premature ovarian failure (POF) is a complex heterogeneous disorder characterized by the triad of amenorrhea, hypergonadotropinism, and hypoestrogenism in women before the expected age of menopause.
Noha M. Issa, Ghada M. Elhady
doaj   +1 more source

Cross-Validation of Next-Generation Sequencing Technologies for Diagnosis of Chromosomal Mosaicism and Segmental Aneuploidies in Preimplantation Embryos Model

open access: yesLife, 2021
Detection of mosaic embryos is crucial to offer more possibilities of success to women undergoing in vitro fertilization (IVF) treatment. Next Generation Sequencing (NGS)-based preimplantation genetic testing are increasingly used for this purpose since ...
Anil Biricik   +10 more
doaj   +1 more source

Maternal XX/X chromosome mosaicism in donor oocyte in vitro fertilization (IVF)

open access: yesMiddle East Fertility Society Journal, 2012
Objective: To evaluate if the degree of maternal X chromosome mosaicism is correlated to the pregnancy loss rate in donor oocyte IVF in women with a Turner syndrome mosaic (TS-Mosaic) diagnosis. Design: Prospective trial. Patients and methods: Women with
Paul R. Brezina   +5 more
doaj   +1 more source

Unproportional mosaicing

open access: yesCoRR, 2023
Data shift is a gap between data distribution used for training and data distribution encountered in the real-world. Data augmentations help narrow the gap by generating new data samples, increasing data variability, and data space coverage. We present a new data augmentation: Unproportional mosaicing (Unprop). Our augmentation randomly splits an image
Vojtech Molek   +3 more
openaire   +2 more sources

Multi‐tissue cytogenetic analysis for the diagnosis of mosaic Down syndrome: A case report

open access: yesClinical Case Reports, 2022
Less than one percent of individuals with Down syndrome exhibit mosaicism, a biological phenomenon that describes an individual who has two or more genetically distinct cell lines.
Wilberg A. Moncada Arita   +6 more
doaj   +1 more source

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