Results 31 to 40 of about 125,272 (358)

Perinatal detection of disomy X cell line by fluorescence in situ hybridization in a pregnancy with 45,X/47,XXX at amniocentesis, cytogenetic discrepancy in various tissues and a favorable outcome

Taiwanese Journal of Obstetrics & Gynecology, 2023
Objective: We present perinatal detection of disomy X cell line by fluorescence in situ hybridization (FISH) in a pregnancy with 45,X/47,XXX at amniocentesis, cytogenetic discrepancy in various tissues and a favorable outcome. Case report: A 34-year-old,
Chih-Ping Chen, Fang-Tzu Wu, Yen-Ting Pan, Peih-Shan Wu, Wen-Lin Chen, Meng-Shan Lee, Wayseen Wang   +6 more
doaj   +1 more source

Dasheen mosaic virus (dasheen mosaic)

PlantwisePlus Knowledge Bank, 2022
openaire   +2 more sources

Clinical relevance of postzygotic mosaicism in Cornelia de Lange syndrome and purifying selection of NIPBL variants in blood

Scientific Reports, 2021
Postzygotic mosaicism (PZM) in NIPBL is a strong source of causality for Cornelia de Lange syndrome (CdLS) that can have major clinical implications. Here, we further delineate the role of somatic mosaicism in CdLS by describing a series of 11 unreported
Ana Latorre-Pellicer, Marta Gil-Salvador, Ilaria Parenti, Cristina Lucia-Campos, Laura Trujillano, Iñigo Marcos-Alcalde, María Arnedo, Ángela Ascaso, Ariadna Ayerza-Casas, Rebeca Antoñanzas-Pérez, Cristina Gervasini, Maria Piccione, Milena Mariani, Axel Weber, Deniz Kanber, Alma Kuechler, Martin Munteanu, Katharina Khuller, Gloria Bueno-Lozano, Beatriz Puisac, Paulino Gómez-Puertas, Angelo Selicorni, Frank J. Kaiser, Feliciano J. Ramos, Juan Pié   +24 more
doaj   +1 more source

Complex patterns of male germline instability and somatic mosaicism in myotonic dystrophy type 1 [PDF]

, 2000
The genetic basis of myotonic dystrophy type 1 (DM1) is the expansion of a CTG repeat in the 3' untranslated region of DM1PK . Once into the disease range, the repeat becomes highly unstable and is biased toward expansion in both somatic and germline ...
Baiget, M., Gamez, J., Martorell, L., Monckton, D.G.   +3 more
core   +1 more source

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

Regional and developmental characteristics of human embryo mosaicism revealed by single cell sequencing.

PLoS Genetics, 2022
Chromosomal mosaicism is common throughout human pre- and post-implantation development. However, the incidence and characteristics of mosaicism in human blastocyst remain unclear.
Yixin Ren, Zhiqiang Yan, Ming Yang, Laura Keller, Xiaohui Zhu, Ying Lian, Qi Liu, Rong Li, Fan Zhai, Yanli Nie, Liying Yan, Gary D Smith, Jie Qiao   +12 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

Stem-Like Adaptive Aneuploidy and Cancer Quasispecies [PDF]

, 2013
We analyze and reinterpret experimental evidence from the literature to argue for an ability of tumor cells to self-regulate their aneuploidy rate. We conjecture that this ability is mediated by a diversification factor that exploits molecular mechanisms
Napoletani, Domenico, Signore, Michele, Struppa, Daniele C.   +2 more
core   +4 more sources

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

Explaining gender differences in caries: a multifactorial approach to a multifactorial disease. [PDF]

, 2010
Many studies have demonstrated that caries rates are higher in women than in men. This review attempts to provide an explanation for this trend by examining each factor which contributes to caries and how the factor differs in men and women. Evidence has
Ferraro, Maria, Vieira, Alexandre R
core   +4 more sources