Results 31 to 40 of about 188,720 (256)

Gene copy-number polymorphism caused by retrotransposition in humans. [PDF]

PLoS Genetics, 2013
The era of whole-genome sequencing has revealed that gene copy-number changes caused by duplication and deletion events have important evolutionary, functional, and phenotypic consequences. Recent studies have therefore focused on revealing the extent of
Daniel R Schrider, Fabio C P Navarro, Pedro A F Galante, Raphael B Parmigiani, Anamaria A Camargo, Matthew W Hahn, Sandro J de Souza   +6 more
doaj   +1 more source

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

Genetic variants in nuclear DNA along with environmental factors modify mitochondrial DNA copy number: a population-based exome-wide association study

BMC Genomics, 2018
Background Mitochondrial DNA (mtDNA) copy number has been found associated with multiple diseases, including cancers, diabetes and so on. Both environmental and genetic factors could affect the copy number of mtDNA.
Zhihua Li, Meng Zhu, Jiangbo Du, Hongxia Ma, Guangfu Jin, Juncheng Dai   +5 more
doaj   +1 more source

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

Frequent copy number variants in a cohort of Mexican-Mestizo individuals

Molecular Cytogenetics, 2023
Background The human genome presents variation at distinct levels, copy number variants (CNVs) are DNA segments of variable lengths that range from several base pairs to megabases and are present at a variable number of copies in human genomes.
Silvia Sánchez, Ulises Juárez, Julieta Domínguez, Bertha Molina, Rehotbevely Barrientos, Angélica Martínez-Hernández, Alessandra Carnevale, Patricia Grether-González, Dora Gilda Mayen, Camilo Villarroel, Esther Lieberman, Emiy Yokoyama, Victoria Del Castillo, Leda Torres, Sara Frias   +14 more
doaj   +1 more source

BMT4me En Español: Multisite Feasibility and Usability Testing of a Spanish‐Language mHealth Adherence Support App for Spanish‐Speaking Caregivers of Children After Hematopoietic Stem Cell Transplantation and Cancer Treatment

Pediatric Blood &Cancer, EarlyView.
ABSTRACT Background Medication nonadherence during the first 100 days after pediatric hematopoietic stem cell transplantation (HSCT) and during oncology treatment increases risk for complications. BMT4me is a caregiver‐facing mobile health (mHealth) application providing medication reminders, symptom tracking, and note‐taking features to support ...
Micah A. Skeens, Madeline R. Peek, Bianca Franklin, Emre Sezgin, Melissa Beauchemin   +4 more
wiley   +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

Measurable Residual Disease Monitoring During Treatment for Pediatric Acute Myeloid Leukemia in First Relapse

Pediatric Blood &Cancer, EarlyView.
ABSTRACT Background Survival after relapse in pediatric acute myeloid leukemia (AML) remains poor, highlighting the critical importance of identifying prognostic factors to guide optimal relapse management. Methods We investigated the prognostic impact of multiparameter flow cytometry (MFC) measurable residual disease (MRD) in 188 patients with first ...
Camilla Poulsen, Kristian Juul Sandahl, Lene Karlsson, Jonas Abrahamsson, Nira Arad‐Cohen, Daniel Cheuk, Barbara De Moerloose, Linda Fogelstrand, Jose Maria Fernandez Navarro, Bianca F. Goemans, Kirsi Jahnukainen, Gertjan Kaspers, Zhanna Kovalova, Monica Cheng Munthe‐Kaas, Ulrika Norén‐Nyström, Josefine Palle, Ramune Pasauliene, Cornelis Jan Pronk, Kadri Saks, Anne Tierens, Henrik Hasle, Kristian Løvvik Juul‐Dam   +21 more
wiley   +1 more source

Copy number variants, diseases and gene expression [PDF]

Human Molecular Genetics, 2009
Copy number variation (CNV) has recently gained considerable interest as a source of genetic variation likely to play a role in phenotypic diversity and evolution. Much effort has been put into the identification and mapping of regions that vary in copy number among seemingly normal individuals in humans and a number of model organisms, using ...
Henrichsen CN, Chaignat E, Reymond A
openaire   +3 more sources

ASSIST: Refinement of a Benefits Navigator Intervention Among Low‐Income Pediatric Oncology Families

Pediatric Blood &Cancer, EarlyView.
ABSTRACT Background/Objectives Children with cancer living in poverty experience worse survival and quality of life. Interventions connecting low‐income families to benefits (e.g., Supplemental Nutrition Assistance Program [SNAP] improve health outcomes; yet nearly 50% of SNAP‐eligible pediatric oncology families are unenrolled.
Puja J. Umaretiya, Selena Murcia Mendez, Jennifer Kellett, Sarah Wright, Marisel Ponton, Robin T. Higashi, Rahela Aziz‐Bose, Colleen A. Kelly, Ayesha Zia, Joanne Wolfe, Sandi L. Pruitt, Kira Bona   +11 more
wiley   +1 more source