Results 61 to 70 of about 502,320 (296)

A common founding clone with TP53 and PTEN mutations gives rise to a concurrent germ cell tumor and acute megakaryoblastic leukemia [PDF]

, 2016
We report the findings from a patient who presented with a concurrent mediastinal germ cell tumor (GCT) and acute myeloid leukemia (AML). Bone marrow pathology was consistent with a diagnosis of acute megakaryoblastic leukemia (AML M7), and biopsy of an ...
Demeter, Ryan T, Duncavage, Eric J, Griffith, Malachi, Griffith, Obi L, Hagemann, Ian S, Lu, Charles, Magrini, Vincent, Miller, Christopher A, O\u27Laughlin, Michelle, Ozenberger, Bradley A, Riedell, Peter, Wartman, Lukas D, Westervelt, Peter   +12 more
core   +2 more sources

GROM-RD: resolving genomic biases to improve read depth detection of copy number variants [PDF]

PeerJ, 2015
Amplifications or deletions of genome segments, known as copy number variants (CNVs), have been associated with many diseases. Read depth analysis of next-generation sequencing (NGS) is an essential method of detecting CNVs. However, genome read coverage
Sean D. Smith, Joseph K. Kawash, Andrey Grigoriev   +2 more
doaj   +2 more sources

Genetic alterations in gliosarcoma and giant cell glioblastoma [PDF]

, 2015
The majority of glioblastomas develop rapidly with a short clinical history (primary glioblastoma IDH wild-type), whereas secondary glioblastomas progress from diffuse astrocytoma or anaplastic astrocytoma.
ANTONELLI, MANILA, Capper, David, GIANGASPERO, FELICE, Kleihues, Paul, Mittelbronn, Michel, Nonoguchi, Naosuke, Oh, Ji Eun, Ohgaki, Hiroko, Ohta, Takashi, Paulus, Werner, Pierscianek, Daniela, Satomi, Kaishi, Sure, Ulrich, Vital, Anne   +13 more
core   +1 more source

Copy number variants in patients with short stature [PDF]

European Journal of Human Genetics, 2013
Height is a highly heritable and classic polygenic trait. Recent genome-wide association studies (GWAS) have revealed that at least 180 genetic variants influence adult height. However, these variants explain only about 10% of the phenotypic variation in height.
Duyvenvoorde, H.A. van, Lui, J.C., Kant, S.G., Oostdijk, W., Gijsbers, A.C.J., Hoffer, M.J.V., Karperien, M., Walenkamp, M.J.E., Noordam, C., Voorhoeve, P.G., Mericq, V., Pereira, A.M., Claahsen-van de Grinten, H.L., Gool, S.A. van, Breuning, M.H., Losekoot, M., Baron, J., Ruivenkamp, C.A.L., Wit, J.M.   +18 more
openaire   +8 more sources

Visualizing and exploring patterns of large mutational events with SigProfilerMatrixGenerator

BMC Genomics, 2023
Background All cancers harbor somatic mutations in their genomes. In principle, mutations affecting between one and fifty base pairs are generally classified as small mutational events.
Azhar Khandekar, Raviteja Vangara, Mark Barnes, Marcos Díaz-Gay, Ammal Abbasi, Erik N. Bergstrom, Christopher D. Steele, Nischalan Pillay, Ludmil B. Alexandrov   +8 more
doaj   +1 more source

Blood and skin-derived Sezary cells: differences in proliferation-index, activation of PI3K/AKT/mTORC1 pathway and its prognostic relevance [PDF]

, 2019
Sézary syndrome (SS) is a rare and aggressive variant of Cutaneous T-Cell Lymphoma characterized by neoplastic distribution mainly involving blood, skin, and lymph-node.
Benucci, Roberto, Bresin, Antonella, Cantonetti, Maria, Caprini, Elisabetta, Cristofoletti, Cristina, D’Atri, Stefania, Frezzolini, Alessandra, Helmer Citterich, Mauro, Monopoli, Alessandro, Monzo, Francesca, Narducci, Maria Grazia, Passarelli, Francesca, Picchio, Maria Cristina, Picozza, Mario, Russo, Giandomenico, Scala, Enrico   +15 more
core   +1 more source

A genome-wide scan of copy number variants in three Iranian indigenous river buffaloes

BMC Genomics, 2021
Background In Iran, river buffalo is of great importance. It plays an important role in the economy of the Country, because its adaptation to harsh climate conditions and long productive lifespan permitting its farming across the Country and to convert ...
Maria G. Strillacci, Hossein Moradi-Shahrbabak, Pourya Davoudi, Seyed Mohammad Ghoreishifar, Mahdi Mokhber, Anoar Jamai Masroure, Alessandro Bagnato   +6 more
doaj   +1 more source

Non-exhaustive DNA methylation-mediated transposon silencing in the black truffle genome, a complex fungal genome with massive repeat element content [PDF]

, 2014
Background: We investigated how an extremely transposon element (TE)-rich organism such as the plant-symbiotic ascomycete truffle Tuber melanosporum exploits DNA methylation to cope with the more than 45,000 repeated elements that populate its genome ...
Artur Jaroszewicz, Barbara Montanini, David Lopez, Francis Martin, Marco Morselli, Matteo Pellegrini, Pao-Yang Chen, Simone Ottonello   +7 more
core   +5 more sources

Copy Number Variants in the Kallikrein Gene Cluster

PLoS ONE, 2013
The kallikrein gene family (KLK1-KLK15) is the largest contiguous group of protease genes within the human genome and is associated with both risk and outcome of cancer and other diseases. We searched for copy number variants in all KLK genes using quantitative PCR analysis and analysis of inheritance patterns of single nucleotide polymorphisms.
Lindahl, Pernilla, Säll, Torbjörn, Bjartell, Anders, Johansson, Anna, Lilja, Hans, Halldén, Christer   +5 more
openaire   +7 more sources

Copy Number Variants, Aneuploidies, and Human Disease [PDF]

Clinics in Perinatology, 2015
In the perinatal setting, chromosome imbalances cause a range of clinically significant disorders and increase the risk for other particular phenotypes. As technologies have improved to detect increasingly smaller deletions and duplications, collectively referred to as copy number variants (CNVs), clinicians are learning the significant role that these
Christa Lese, Martin, Brianne E, Kirkpatrick, David H, Ledbetter   +2 more
openaire   +2 more sources