Results 81 to 90 of about 453,665 (301)

Generate an AZFa deleted human embryonic stem cell line

Stem Cell Research
Y chromosome deletion and karyotype abnormalities are commonly associated with congenital non-obstructive azoospermia, impairing spermatogenesis. Specifically, the deletion of the Y chromosome Azoospermia factor a (AZFa) has been identified in infertile ...
Yuting Zhen, Qina He, Chao Sun, Yanlin Ma, Qi Li, Luan Wen   +5 more
doaj   +1 more source

Interrelationship between TP53 gene deletion, protein expression and chromosome 17 aneusomy in gastric adenocarcinoma

BMC Gastroenterology, 2009
Background This study evaluates the existence of numerical alterations of chromosome 17 and TP53 gene deletion in gastric adenocarcinoma. The p53 protein expression was also evaluated, as well as, possible associations with clinicopathological ...
Demachki Samia, Assumpção Paulo P, Rabenhorst Silvia HB, Faria Mário HG, Leal Mariana F, Lima Eleonidas M, Seabra Aline D, Calcagno Danielle Q, Guimarães Adriana C, Khayat André S, Smith Marília AC, Burbano Rommel R   +11 more
doaj   +1 more source

Chromosomal deletion syndromes

Journal of applied health sciences
Chromosomes are structures composed of a DNA molecule and histone proteins that carry genetic information. They are located in the cell nucleus and become visible under light microscope during cell division. A karyogram is used to depict the number and structure of chromosomes, whereby a normal human karyogram has 46 chromosomes arranged in 23 ...
Anđela Strujić, Ivna Kocijan
openaire   +1 more source

Complementarity of Long‐Reads and Optical Mapping in Parkinson's Disease for Structural Variants

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Long‐read sequencing and optical genome mapping technologies have the ability to detect large and complex structural variants. This has led to the discovery of novel pathogenic variants in neurodegenerative movement disorders. Thus, we aimed to systematically compare the SV detection capabilities of OGM and ONT in Parkinson's disease.
André Fienemann, Theresa Lüth, Susen Schaake, Carolin Gabbert, Marius Möller, Hauke Busch, Katja Lohmann, Jonas A. Gustafson, Danny E. Miller, Kensuke Daida, Manabu Funayama, Nobutaka Hattori, Samia Ben Sassi, Faycel Hentati, Matthew J. Farrer, Kristian K. Ullrich, Christine Klein, Joanne Trinh   +17 more
wiley   +1 more source

Inv dup del(10p): Prenatal diagnosis and molecular cytogenetic characterization

Taiwanese Journal of Obstetrics & Gynecology, 2019
Objective: We present molecular cytogenetic characterization of prenatally detected inverted duplication and deletion of 10p [inv dup del(10p)]. Case report: A 39-year-old, primigravid woman underwent amniocentesis at 17 weeks of gestation because of ...
Chih-Ping Chen, Tsang-Ming Ko, Liang-Kai Wang, Schu-Rern Chern, Peih-Shan Wu, Shin-Wen Chen, Fang-Tzu Wu, Li -Feng Chen, Wayseen Wang   +8 more
doaj   +1 more source

Clinical, cytogenetic and molecular findings of a “de novo” inv dup del (6q) [PDF]

, 2012
Introduction: Complex rearrangements resulting in inverted duplications contiguous to a terminal deletion (inv dup del) were first reported for the short arm of chromosome 8 in1976.
Candeias, C., Correia, H., Fonseca Silva, M.L., Marques, B., Mota Freitas, M., Oliva Teles, N., Ribeiro, J., Soares, G., Tkachenko, N.   +8 more
core  

Novel deletions causing pseudoxanthoma elasticum underscore the genomic instability of the ABCC6 region [PDF]

, 2010
Mutations in ABCC6 cause pseudoxanthoma elasticum (PXE), a heritable disease that affects elastic fibers. Thus far, >200 mutations have been characterized by various PCR-based techniques (primarily direct sequencing), identifying up to 90% of PXE-causing
Chassaing, N, Costrop, Laura, Coucke, Paul, De Paepe, Anne, Guerra, D, Le Saux, Olivier, Martin, L, Pasquali-Ronchetti, I, Van Laer, Lut, Vanakker, Olivier   +9 more
core   +2 more sources

Monocyte LOXHD1 and RHOB Expression Predictive of Progressive Systemic Sclerosis–Associated Interstitial Lung Disease

Arthritis Care &Research, EarlyView.
Objective A leading cause of death among patients with scleroderma (SSc), interstitial lung disease (ILD) remains challenging to prognosticate. The discovery of biomarkers that accurately determine which patients would benefit from close monitoring and aggressive therapy would be an essential clinical tool.
Cristina M. Padilla, Robert Lafyatis, Kevin F. Gibson, Christina Morse, Eleanor Valenzi, Xiaoping Chen, Xiaoyun Li, Yanwu Zhao, Yongseok Park, Dana Ascherman, Jonathan Minden, Robyn Domsic, Yingze Zhang, Daniel J. Kass   +13 more
wiley   +1 more source

Thrombocytopenia and Postpartum Hemorrhage in a Woman with Chromosome 22q11.2 Deletion Syndrome

Case Reports in Obstetrics and Gynecology, 2016
Chromosome 22q11.2 deletion syndrome, also known as DiGeorge or velocardiofacial syndrome, is associated with a wide spectrum of phenotypic features. It is known to be associated with severe macrothrombocytopenia. Postpartum hemorrhage is a leading cause
Sarah L. Pachtman, Kathy Deng, Deepak Nanda   +2 more
doaj   +1 more source

A novel three-colour fluorescence in situ hybridization approach for the detection of t(7;12)(q36;p13) in acute myeloid leukaemia reveals new cryptic three way translocation t(7;12;16) [PDF]

, 2013
© 2013 by the authors; licensee MDPI, Basel, Switzerland. This article is an open access article distributed under the terms and conditions of the Creative Commons Attribution license (http://creativecommons.org/licenses/by/3.0/).The t(7;12)(q36;p13 ...
Abdulbasit Naiel, Andreasson, Beverloo, Cho, Elena Fleischman, Grigory Tsaur, Hollington, Jochen Harbott, Michael Vetter, Olga Plekhanova, Olga Sokova, Raimondi, Sabrina Tosi, Wildenhain, Wlodarska   +14 more
core   +2 more sources