Results 31 to 40 of about 42,857 (292)

Application of machine learning to predict aneuploidy and mosaicism in embryos from in vitro fertilization cyclesAJOG Global Reports at a Glance

AJOG Global Reports, 2022
BACKGROUND: The factors associated with embryo aneuploidy have been extensively studied. Mostly maternal age and to a lesser extent male factor and ovarian stimulation have been related to the occurrence of chromosomal alterations in the embryo.
José A. Ortiz, PhD, Ruth Morales, PhD, Belén Lledó, PhD, Juan A. Vicente, PhD, Julio González, PhD, Eva M. García-Hernández, PhD, Alba Cascales, MSc, Jorge Ten, PhD, Andrea Bernabeu, PhD, MD, Rafael Bernabeu, PhD, MD   +9 more
doaj   +1 more source

Challenging diagnoses of tetraploidy/diploidy and trisomy 12: utility of first-tier prenatal testing methods

Frontiers in Genetics, 2023
Introduction: Chromosome mosaicism and low-grade mosaicism present a challenge for diagnosis in the era of SNP array and NGS. Tetraploidy is a rare numerical chromosomal abnormality characterized by the presence of four copies of each chromosome.
Irina Ioana Iordanescu, Irina Ioana Iordanescu, Anca Teodora Neacsu, Andreea Catana, Andreea Catana, Zina Barabas-CuzmicI, Viorel Suciu, Cristina Dragomir, Diana Elena Voicu, Emilia Severin, Mariela Sanda Militaru, Mariela Sanda Militaru   +11 more
doaj   +1 more source

Mosaic deletion-duplication syndrome of chromosome 3: Prenatal molecular cytogenetic diagnosis using cultured and uncultured amniocytes and association with fetoplacental discrepancy

Taiwanese Journal of Obstetrics & Gynecology, 2011
Objective: To present prenatal molecular cytogenetic diagnosis of mosaicism for terminal 3p deletion and distal 3q duplication using cultured and uncultured amniocytes, and the association with fetoplacental discrepancy.
Chih-Ping Chen, Yi-Ning Su, Chin-Yuan Hsu, Schu-Rern Chern, Chen-Chi Lee, Yu-Ting Chen, Wen-Lin Chen, Wayseen Wang   +7 more
doaj   +1 more source

Case Report: Identification of Maternal Low-Level Mosaicism in the Dystrophin Gene by Droplet Digital Polymerase Chain Reaction

Frontiers in Genetics, 2021
Germline mosaicism should be suspected when the same de novo mutations are identified in a second pregnancy with asymptomatic parents. Our study aims to find a feasible approach to reveal the existence of germline mosaicism.
Pengzhen Jin, Pengzhen Jin, Xiaoyang Gao, Xiaoyang Gao, Miaomiao Wang, Miaomiao Wang, Yeqing Qian, Yeqing Qian, Jingjin Yang, Jingjin Yang, Yanmei Yang, Yanmei Yang, Yuqing Xu, Yuqing Xu, Yanfei Xu, Yanfei Xu, Minyue Dong, Minyue Dong   +17 more
doaj   +1 more source

Side differences in the degree of mosaicism of the buccal mucosa in Turner syndrome

Molecular Genetics & Genomic Medicine, 2019
Background The aim was to investigate if there were any differences in the degree of mosaicism between the left‐ and right‐hand sides of the buccal mucosa in women with Turner syndrome.
Sofia Thunström, Kerstin Landin‐Wilhelmsen, Inger Bryman, Charles Hanson   +3 more
doaj   +1 more source

The lambda red proteins promote efficient recombination between diverged sequences: implications for bacteriophage genome mosaicism. [PDF]

PLoS Genetics, 2008
Genome mosaicism in temperate bacterial viruses (bacteriophages) is so great that it obscures their phylogeny at the genome level. However, the precise molecular processes underlying this mosaicism are unknown.
Jann T Martinsohn, Miroslav Radman, Marie-Agnès Petit   +2 more
doaj   +1 more source

Unproportional mosaicing

CoRR, 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, Petr Hurtík, Pavel Vlasánek, David Adamczyk   +3 more
openaire   +3 more sources

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

Nature 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, Alex Ing, Eva Benito, Marco Raffaele Cosenza, Patrick Hasenfeld, Thomas Weber, Anna J. M. Marx, Vivien S. Ionasz, Nathan Trausch, Sarah Benedetto, Giulia Di Muzio, Boyu Ding, Jana Berlanda, Marco Giaisi, Nina Claudino, Thomas Höfer, Jan O. Korbel, Pei-Chi Wei   +17 more
doaj   +1 more source

Mosaics and moles [PDF]

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, Niemann, Isa, Hansen, Estrid Staehr, Hindkjaer, Johnny, Degn, Birte, Jensen, Uffe Birk; id_orcid 0000-0002-6205-6355, Bolund, Lars   +6 more
openaire   +3 more sources

Diversity and complexity in neural organoids

FEBS Letters, EarlyView.
Neural organoid research aims to expand genetic diversity on one side and increase tissue complexity on the other. Chimeroids integrate multiple donor genomes within single organoids. Self‐organising multi‐identity organoids, exogenous cell seeding, or enforced assembly of region‐specific organoids contribute to tissue complexity.
Ilaria Chiaradia, Madeline A. Lancaster
wiley   +1 more source