Results 141 to 150 of about 29,886 (297)

Multiplex ligation-dependent probe amplification identifies copy number changes in normal and undetectable karyotype MDS patients. [PDF]

Ann Hematol, 2021
Ma J, Ai X, Wang J, Xing L, Tian C, Yang H, Yu Y, Zhao H, Wang X, Zhao Z, Wang Y, Cao Z.   +11 more
europepmc   +1 more source

Detection of a Williams Beuren syndrome case by MLPA. [PDF]

, 2013
El síndrome de Williams-Beuren (WBS) es un trastorno del desarrollo neurológico que incluye diferentes manifestaciones clínicas como estenosis aórtica supravalvular, lesiones cerebrovasculares, retraso en el crecimiento, rasgos faciales "élficos" y ...
Branham, Maria Teresita, Garro, Fernanda, Herrero, Gustavo, Laurito, Sergio Roberto, Marsá, Silvana, Roque Moreno, Maria   +5 more
core  

Low‐Level Mosaicism in Tuberous Sclerosis Complex (TSC): Diagnostic and Clinical Implications From Two Novel Cases and Literature Review

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Mosaicism is relatively common in Tuberous Sclerosis Complex (TSC) but can be difficult to detect using routine diagnostic tests, particularly when the variant allele frequency (VAF) is low. We describe two cases of mosaic TSC diagnosed using an ultra‐deep sequencing approach in multiple tissues and review the literature about this topic in ...
Irene Ambrosetti, Carlotta Pia Cristalli, Francesca Montanari, Luca Caramanna, Francesco Modestino, Irene Capelli, Valeria Aiello, Sarah Lerario, Cecilia Evangelisti, Iria Neri, Eugenio Brunocilla, Cesare Rossi, Marco Seri, Daniela Turchetti, Giovanni Innella   +14 more
wiley   +1 more source

CYP1B1 copy number variation is not a major contributor to primary congenital glaucoma [PDF]

, 2015
This article is published under a Creative Commons Attribution-NonCommercial-NoDerivatives License 3.0, or CC BY-NC-ND 3.0 (see http://creativecommons.org/licenses/by-nc-nd/3.0/ for license terms).
Burdon, Kathryn Penelope, Craig, Jamie E, Dubowsky, Andrew, Elder, James E, Hayes, Melanie, Kearns, Lisa S, Mackey, David A, Ridge, Bronwyn, Ruddle, Jonathan B, Souzeau, Emmanuelle, Staffieri, Sandra E, Zhou, Tiger   +11 more
core  

A Novel Transcriptional Slippage Mechanism Rescues Dystrophin Expression from a DMD Frameshift Variant

Annals of Neurology, EarlyView.
Pathogenic DMD variants usually follow the reading‐frame rule: out‐of‐frame changes cause Duchenne muscular dystrophy, whereas in‐frame ones produce Becker muscular dystrophy (BMD). We report a 23‐year‐old man with BMD‐like weakness, calf hypertrophy, elevated creatine kinase, and dilated cardiomyopathy.
Hiroya Naruse, Jun Mitsui, Akatsuki Kubota, So Okubo, Shuichiro Mitsuchi, Kensho Sumi, Shuichi Tanifuji, Shogo Komaki, Asuka Kitamura, Meiko Maeda, Daiki Yashita, Atsushi Sudo, Takashi Matsukawa, Masashi Hamada, Wataru Satake, Shoji Tsuji, Tatsushi Toda   +16 more
wiley   +1 more source

Multiplex Ligation-Dependent Probe Amplification [PDF]

, 2019
openaire   +3 more sources

A cooperative release of mitochondrial DNA from platelets and neutrophils drives an interferon signature in systemic sclerosis

Arthritis &Rheumatology, Accepted Article.
Objective Mitochondria are organelles with a hypomethylated circular genome. Mitochondrial DNA (mtDNA) in the systemic circulation has been implicated in inflammation. This study investigates the role of circulating DNA in systemic sclerosis (SSc) and the cellular mechanisms governing its release.
Stavros Giaglis, André N. Tiaden, Simone Häner‐Massimi, Diego Kyburz, Cedric André, Anton Glück, Enrico Ferrero, Stuart Hawtin, Tobias Junt, Ulrich A. Walker   +9 more
wiley   +1 more source

Seasonal drivers of plant–soil–microbial community structure and functions in Western Himalayan grasslands, Pakistan

Grassland Research, EarlyView.
Plant species richness was greater in summer in both alpine and subalpine grassland ecosystems. Soil moisture demonstrates significant positive correlations with soil organic carbon and total nitrogen across seasonal periods. Microbial α‐diversity peaks during summer but maintains functional stability across seasons.
Huma Ali, Muhammad Rafiq, Allan Degen, Ben Sparrow, Zhanhuan Shang   +4 more
wiley   +1 more source

Polygenic risk score and prostate specific antigen predict death from prostate cancer in men with intermediate aggressive cancer

International Journal of Cancer, EarlyView.
What's New? Using 21 SNPs, two novel PRS were constructed and used to develop two new machine‐learning classifiers, one for the detection of prostate cancer and the other for the prediction of its aggressiveness and subsequent mortality. The classifier for disease detection is built using the PRS as the sole feature, whereas the one for disease ...
Leandro Rodrigues Santiago, Efthymios Ladoukakis, Dorota Scibior‐Bentkowska, Belinda Nedjai   +3 more
wiley   +1 more source

Exercise serum promotes DNA damage repair and remodels gene expression in colon cancer cells

International Journal of Cancer, EarlyView.
What's New? Exercise releases bioactive molecules into the bloodstream that can directly slow cancer cell growth. In colon cancer, this may help limit disease progression. Here, using colon cancer cells, the authors investigated the effects of exercise‐conditioned human serum on DNA repair mechanisms. Notably, acute exercise in humans elicited systemic
Samuel T. Orange, Emily Dodd, Sharanya Nath, Hannah Bowden, Alastair R. Jordan, Hannah Tweddle, Ann Hedley, Ifeoma Chukwuma, Ian Hickson, Sweta Sharma Saha   +9 more
wiley   +1 more source