Results 51 to 60 of about 517,834 (299)

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

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

Identifying Copy Number Variations based on Next Generation Sequencing Data by a Mixture of Poisson Model [PDF]

, 2010
Next generation sequencing (NGS) technologies have profoundly impacted biological research and are becoming more and more popular due to cost effectiveness and their speed.
Andreas Mayr, Günter Klambauer, Karin Schwarzbauer, Karin Schwarzbauer, Sepp Hochreiter   +4 more
core   +2 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

Copy number variants, diseases and gene expression [PDF]

, 2017
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.
Chaignat, Evelyne, Henrichsen, Charlotte N., Reymond, Alexandre   +2 more
core  

Global increases in both common and rare copy number load associated with autism. [PDF]

, 2013
Children with autism have an elevated frequency of large, rare copy number variants (CNVs). However, the global load of deletions or duplications, per se, and their size, location and relationship to clinical manifestations of autism have not been ...
Baker, Carl, Balciuniene, Jorune, Eichler, Evan E, Fox, Keolu, Girirajan, Santhosh, Hansen, Robin, Hertz-Picciotto, Irva, Johnson, Rebecca L, Katiyar, Neerja, Khoo, Su Jen, Nauth, Therese B, Pessah, Isaac N, Ritchie, Marylyn, Selleck, Scott B, Srikanth, Abhinaya, Tassone, Flora, Yeoh, Kian Hui   +16 more
core   +2 more sources

Health‐Related Quality of Life and Symptom Severity Among Patients With PIK3CA‐Related Overgrowth Spectrum: A Mixed‐Methods Study to Understand Real‐World Experience With Alpelisib Treatment

Pediatric Blood &Cancer, EarlyView.
ABSTRACT Background PIK3CA‐related overgrowth spectrum (PROS) includes several rare overgrowth disorders resulting from somatic gain‐of‐function mutations in PIK3CA. Despite treatment advances, including the recent approval of alpelisib for PROS in the United States, literature detailing the patient experience with PROS is limited.
Vamsi Bollu, Kaitlin LaGasse, Cory D. Saucier, Kimberly Raymond, Miranda Lauher‐Charest, Lauren Crowder, Beilei Cai, Mary Lisha Paul, Denise Adams   +8 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

‘They Need to Hear You Say It’: Healthcare Professionals’ Perspectives on Barriers and Enablers to End‐of‐Life Discussions With Adolescents and Young Adults With Cancer

Pediatric Blood &Cancer, EarlyView.
ABSTRACT End‐of‐life conversations with adolescents and young adults (AYAs) with cancer rarely occur without the guidance of healthcare professionals. As a part of the ‘Difficult Discussions’ study, focused on palliative care and advance care planning discussions with AYAs with cancer, we investigated the factors that healthcare professionals identify ...
Justine Lee, Holly Evans, Claire E. Wakefield, Antoinette Anazodo, Richard J. Cohn, Brittany C. McGill, Elizabeth A. Lobb, Lori Wiener, Madeleine L. Juhrmann, Ursula M. Sansom‐Daly   +9 more
wiley   +1 more source

Copy Number Variants Associated with 14 Cases of Self-Injurious Behavior. [PDF]

PLoS ONE, 2016
Copy number variants (CNVs) were detected and analyzed in 14 probands with autism and intellectual disability with self-injurious behavior (SIB) resulting in tissue damage.
Matthew D Shirley, Laurence Frelin, José Soria López, Anne Jedlicka, Amanda Dziedzic, Michelle A Frank-Crawford, Wayne Silverman, Louis Hagopian, Jonathan Pevsner   +8 more
doaj   +1 more source