Results 41 to 50 of about 162,786 (255)

Expanding the allelic spectrum of ELOVL4‐related autosomal recessive neuro‐ichthyosis

Molecular Genetics & Genomic Medicine, 2023
Background Very long‐chain fatty acids (VLCFAs) composed of more than 20 carbon atoms are essential in the biosynthesis of cell membranes in the brain, skin, and retina. VLCFAs are elongated beyond 28 carbon atoms by ELOVL4 enzyme. Variants in ELOVL4 are
Fatima Alabdulrazzaq, Talal Alanzi, Haya H. Al‐Balool, Alice Gardham, Emma Wakeling, Harry G. Leitch, Moeenaldeen AlSayed, Maha Abdulrahim, Abdulaziz Aladwani, Antonio Romito, Kapil Kampe, Sacha Ferdinandusse, Ashraf H. Aboelanine, Amira Abdullah, Amal Alwadani, Laila Bastaki, Frédéric M. Vaz, Aida M. Bertoli‐Avella, Dana Marafi   +18 more
doaj   +1 more source

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

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

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

Penetrance for copy number variants associated with schizophrenia [PDF]

Human Molecular Genetics, 2010
The discovery of 'high-risk' de novo copy number variants (CNVs) associated with neuropsychiatric disorders such as schizophrenia offers the opportunity to translate these findings into useful tools for clinical geneticists. However, this will require estimation of penetrance for these variants, which has not yet been properly considered. To facilitate
Vassos, Evangelos, Collier, David A., Holden, Simon, Patch, Christine, Rujescu, Dan, St Clair, David, Lewis, Cathryn M.   +6 more
openaire   +3 more sources

Schizophrenia copy number variants and associative learning [PDF]

Molecular Psychiatry, 2016
Large-scale genomic studies have made major progress in identifying genetic risk variants for schizophrenia. A key finding from these studies is that there is an increased burden of genomic copy number variants (CNVs) in schizophrenia cases compared with controls.
Clifton, N. E., Pocklington, A. J., Scholz, B., Rees, E., Walters, J. T. R., Kirov, G., O'Donovan, M. C., Owen, M. J., Wilkinson, L. S., Thomas, K. L., Hall, J.   +10 more
openaire   +3 more sources

Guidelines for Pediatric Radiotherapy Simulation: A Report From the Children's Oncology Group Radiation Oncology Discipline

Pediatric Blood &Cancer, EarlyView.
ABSTRACT Pediatric radiation therapy presents unique challenges compared to adult treatments, including those of immobilization, potential need for sedation, and the critical importance of accurate, reproducible positioning. Additionally, heightened attention to imaging doses is necessary to minimize long‐term toxicity in survivors.
Parham Alaei, Stephen Mihalcik, Sujith Baliga, Young Kwok, Dana Casey, Eric Ehler, Christiane Burton, John C. Breneman, Daphne A. Haas‐Kogan, Suzanne L. Wolden, Arnold C. Paulino, Nadia N. Laack, Natia Esiashvili, Sarah Milgrom, Christine Hill‐Kayser, Thomas J. Fitzgerald, John A. Kalapurakal, Chia‐Ho Hua   +17 more
wiley   +1 more source

Reconstructing DNA copy number by joint segmentation of multiple sequences

BMC Bioinformatics, 2012
Background Variations in DNA copy number carry information on the modalities of genome evolution and mis-regulation of DNA replication in cancer cells. Their study can help localize tumor suppressor genes, distinguish different populations of cancerous ...
Zhang Zhongyang, Lange Kenneth, Sabatti Chiara   +2 more
doaj   +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

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