Results 41 to 50 of about 58,582 (311)

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

Oral characteristics of Trisomy 8 and monosomy 18: a case report [PDF]

, 2011
Several reports described various mosaic chromosomal syndromes characterized by alterations originated by either an excess or deficit in the number of chromosomes.
Campus, Guglielmo Giuseppe, Lugliè, Pietrina Francesca, Sale, Silvana, Spano, Giovanni   +3 more
core   +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

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

Innovative method for reducing uninformative calls in non-invasive prenatal testing [PDF]

, 2018
Non-invasive prenatal testing or NIPT is currently among the top researched topic in obstetric care. While the performance of the current state-of-the-art NIPT solutions achieve high sensitivity and specificity, they still struggle with a considerable ...
Budis, Jaroslav, Duris, Frantisek, Gazdarica, Juraj, Gazdaricova, Iveta, Harsanyova, Maria, Kucharik, Marcel, Minarik, Gabriel, Nagy, Balint, Radvanszky, Jan, Sekelska, Martina, Strieskova, Lucia, Szemes, Tomas, Szucs, Gabor, Turna, Jan   +13 more
core   +2 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

Pretransplant HLA typing revealed loss of heterozygosity in the major histocompatibility complex in a patient with acute myeloid leukemia [PDF]

, 2019
Introduction Chromosomal abnormalities are frequent events in hematological malignancies. The degree of HLA compatibility between donor and recipient in hematopoietic stem cell transplantation is critical.
Breman, Amy M., Britton, Rebecca M., Cui, Connie P., Farag, Sherif S., Kashi, Zahra, Krueger-Sersen, Mary, Littrell, Courtney A., Lobashevsky, Andrew L., Martin, Russ K., Singh, Susmita, Vance, Gail H.   +10 more
core   +1 more source

Evaluating the Utility of Paired Tumor and Germline Targeted DNA Sequencing for Pediatric Oncology Patients: A Single Institution Report

Pediatric Blood &Cancer, EarlyView.
ABSTRACT Objective To evaluate the diagnostic yield and utility of universal paired tumor–normal multigene panel sequencing in newly diagnosed pediatric solid and central nervous system (CNS) tumor patients and to compare the detection of germline pathogenic/likely pathogenic variants (PV/LPVs) against established clinical referral criteria for cancer ...
Natalie Waligorski, Rebecca Ronsley, Shannon M. Stasi, Jeffrey Stevens, Erin R. Rudzinski, Christina M. Lockwood, Sarah E. S. Leary, Bonnie L. Cole, Michelle A. Ting, Vera Paulson   +9 more
wiley   +1 more source

Categories of Cutaneous Mosaicism

JEADV 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

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

Life, 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, Ettore Cotroneo, Maria Giulia Minasi, Pier Francesco Greco, Sara Bono, Matteo Surdo, Federica Lecciso, Mariateresa Sessa, Francesco Fiorentino, Francesca Spinella, Ermanno Greco   +10 more
doaj   +1 more source