Results 41 to 50 of about 456,399 (317)

Germline pathogenic variants of 11 breast cancer genes in 7,051 Japanese patients and 11,241 controls

Nature Communications, 2018
Association between variants in 11 different genes and breast cancer risk has been established and sequencing of these genes is recommended to provide personalized diagnosis, therapy, and surveillance for the high-risk patients and their relatives.
Yukihide Momozawa, Yusuke Iwasaki, Michael T. Parsons, Yoichiro Kamatani, Atsushi Takahashi, Chieko Tamura, Toyomasa Katagiri, Teruhiko Yoshida, Seigo Nakamura, Kokichi Sugano, Yoshio Miki, Makoto Hirata, Koichi Matsuda, Amanda B. Spurdle, Michiaki Kubo   +14 more
doaj   +1 more source

Identification of Putative Novel Rotavirus H VP7, VP4, VP6 and NSP4 Genotypes in Pigs

Viruses, 2023
Rotavirus H (RVH) has been detected in humans, pigs and bats. Recently, RVH infections were reported in different porcine farms worldwide, suggesting epidemiological relevance.
Elena Ferrari, Greta Vignola, Cristina Bertasio, Chiara Chiapponi, Giovanni Loris Alborali, Vito Martella, Maria Beatrice Boniotti   +6 more
doaj   +1 more source

Palmer Lab Heterogeneous Stock Rats Genotyping Pipeline

, 2023
<p>The third version of Palmer Lab's HS Rats Genotyping Pipeline v3.0.0. Acceptable sequencing data: Riptide library prep lc-WGS, and ddGBS sequences Genotype calling and imputation: STITCH niteration=2 with a high quality consensus reference ...
Chitre, Apurva, Cheng, Riyan, Palmer, Abraham, Polesskaya, Oksana, Chen, Denghui, Peng, Beverly   +5 more
core   +1 more source

Genetic variability of the regulatory region of the FSH-β gene and its association with reproductive traits in Nellore bulls [PDF]

Iraqi Journal of Veterinary Sciences
Molecular biology techniques are important tools for studying animal health and production characteristics. Thus, determining the genotypes of animals with high genetic value enables the implementation of genetic improvement programs, especially related ...
Lorena K. Silva, Cintia L. Santos, Elizabeth M. Barbosa, Sebastiao T. Filho, Janaina B. Luz, Kaliandra S. Alves, Luis R. Oliveira, Ednaldo S. Filho   +7 more
doaj   +1 more source

"Plasmodium falciparum" Drug Resistance, Molecular Genotyping and Generation of a Malaria Resistance Genogram by DNA Microarray-Based Technology [PDF]

, 2006
Prior to the 2001 malarial treatment policy change in Tanzania, studies were conducted to assess the efficacy of sulfadoxine-pyrimethamine (SP) and usefulness of molecular markers in monitoring SP resistance.
Mugittu, Kefas Nasongelya
core   +1 more source

Feasibility of High-Throughput Genome-Wide Genotyping using DNA from Stored Buccal Cell Samples

Biomarker Insights, 2010
It is unclear if buccal cell samples contain sufficient human DNA with adequately sized fragments for high throughput genetic bioassays. Yet buccal cell sample collection is an attractive alternative to gathering blood samples for genetic epidemiologists
Stephanie J. Loomis, Lana M. Olson, Louis R. Pasquale, Janey Wiggs, Daniel Mirel, Andrew Crenshaw, Melissa Parkin, Brandon Rahhal, Stephanie Tetreault, Peter Kraft, Shelley S. Tworoger, Jonathan L. Haines, Jae H. Kang   +12 more
doaj   +1 more source

Genotyping—From Genomic DNA to Genotype in a Single Tube [PDF]

Angewandte Chemie International Edition, 2005
AbstractNucleotide variations in the human genome, such as single‐nucleotide polymorphisms, have been researched more intensively since it became apparent that these deviations are linked to various diseases and also several side effects of drugs. The investigation of genomic DNA in the laboratory requires routine methods that are time‐, labour‐, and ...
Strerath, Michael, Marx, Andreas
openaire   +3 more sources

Neuropsychological and Educational Outcomes in Shwachman–Diamond Syndrome—A Report From the North American Shwachman–Diamond Syndrome Registry

Pediatric Blood &Cancer, EarlyView.
ABSTRACT Background Shwachman–Diamond syndrome (SDS) is a rare autosomal recessive ribosomopathy characterized by bone marrow failure and multisystem involvement, with emerging evidence of associated neurocognitive impairment. Methods We conducted a retrospective study of 240 individuals with biallelic Shwachman–Bodian–Diamond syndrome (SBDS) mutations
Jane Koo, Melissa Gerstle, Leah Cheng, Richard Cooper, Katherine Coyne, Claire Dusa, Naomi E. Joffe, Diana Schwarz, Sarah Steltz, Akiko Shimamura, Kasiani C. Myers, Thea Quinton   +11 more
wiley   +1 more source

Genotyping streptococcus pneumoniae [PDF]

, 2015
Streptococcus pneumoniae is a potentially deadly human pathogen associated with high morbidity, mortality and global economic burden. The universally used bacterial\ud genotyping methods are multilocus sequence typing and pulsed field gel electrophoresis.
Savill, John, Huygens, Flavia, Rayner, Rachael, Hafner, Louise M.   +3 more
core   +1 more source

Establishing an Apheresis Medicine Program in a Resource‐Constrained Setting: A 5‐Year Experience From Lagos, Nigeria

Therapeutic Apheresis and Dialysis, EarlyView.
ABSTRACT Background Establishing a comprehensive apheresis medicine program in a resource‐constrained setting presents significant structural, financial, and logistical challenges. Despite the growing clinical importance of apheresis services globally, published experience from sub‐Saharan Africa remains sparse.
Folasade Adelekan‐Popoola, Shakirat Gold‐Olufadi, Olufunto Olufela Kalejaiye, Abdullateef Ogala, Rasheed A. Balogun   +4 more
wiley   +1 more source