Results 101 to 110 of about 10,219,641 (384)

Diagnostic Challenge in Frontal Variant Alzheimer's Disease With Low Amyloid‐β PET Retention

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Diagnosing frontal variant Alzheimer's disease (fvAD) is difficult and could be even more difficult when amyloid‐beta (Aβ) PET retention is low. A 63‐year‐old woman presenting with a 3‐year history of apathy and memory impairment showed executive dysfunction, memory impairment, and severe bilateral frontotemporal atrophy on MRI.
Ryosuke Shimasaki, Masanori Kurihara, Kenji Ishibashi, Aya Midori Tokumaru, Kenji Ishii, Atsushi Iwata   +5 more
wiley   +1 more source

Probabilistically Sampled and Spectrally Clustered Plant Genotypes using Phenotypic Characteristics [PDF]

arXiv, 2020
Clustering genotypes based upon their phenotypic characteristics is used to obtain diverse sets of parents that are useful in their breeding programs. The Hierarchical Clustering (HC) algorithm is the current standard in clustering of phenotypic data. This algorithm suffers from low accuracy and high computational complexity issues.
arxiv  

A review of evidence on non-invasive prenatal diagnosis (NIPD) : tests for fetal RHD genotype [PDF]

, 2007
This report concentrates on three main areas. First and foremost, we set the background context for RhD NIPD in prenatal care. While the methodology chapter describes how the literature review was carried out and how additional information was collected,
Clay, Diane, Freeman, Karoline, HASH(0x55aa091d4640), Hyde, Julia, Osipenko, Leeza, Szczepura, Ala   +5 more
core  

Validity and Reliability of Clinical and Patient‐Reported Outcomes in Multisystem Proteinopathy 1

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Valosin‐containing protein (VCP)‐associated multisystem proteinopathy 1 (MSP1) is caused by variants in the VCP gene. MSP1 results in various phenotypes including progressive myopathy, Paget's disease of bone, frontotemporal dementia, amyotrophic lateral sclerosis, and parkinsonism, among others.
Lindsay N. Alfano, Megan A. Iammarino, Natalie F. Reash, Linda P. Lowes, Lindsay Pietruszewski, Kathleen Adderley, Lauren Humphrey, Audrey B. Knight, Christopher L. Steiner, Melissa A. Smith, Zarife Sahenk, Anne M. Connolly, Momen Almomen, Eleonora S. D'Ambrosio, Nathan Peck, Allison Peck   +15 more
wiley   +1 more source

Smart breeding driven by advances in sequencing technology

Modern Agriculture, 2023
Crop breeding has undergone numerous advancements throughout history with the next revolution being uncertain. This review provides an overview of breeding techniques from traditional selective breeding and crossbreeding to modern breeding based on ...
Chenji Zhang, Sirong Jiang, Yangyang Tian, Xiaorui Dong, Jianjia Xiao, Yanjie Lu, Tiyun Liang, Hongmei Zhou, Dabin Xu, Han Zhang, Ming Luo, Zhiqiang Xia   +11 more
doaj   +1 more source

Improved Allele‐Specific PCR Technique for Kidd Blood Group Genotyping [PDF]

Journal of Clinical Laboratory Analysis, 2013
BackgroundWe developed an allele‐specific polymerase chain reaction (AS‐PCR) technique for Kidd blood group genotyping. J. Clin. Lab. Anal. 27:53–58, 2013. © 2012 Wiley Periodicals, Inc.MethodsAltogether, 340 blood samples from Thai blood donors at the National Blood Centre, Thai Red Cross Society, were tested with anti‐Jka and anti‐Jkb using the gel ...
Oytip Nathalang, Pramote Sriwanitchrak, Kamphon Intharanut, Sasitorn Bejrachandra, Rudi Grams   +4 more
openaire   +3 more sources

Translating Muscle RNAseq Into the Clinic for the Diagnosis of Muscle Diseases

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Approximately half of patients with hereditary myopathies remain without a definitive genetic diagnosis after DNA next‐generation sequencing (NGS). Here, we implemented transcriptome analysis of muscle biopsies as a complementary diagnostic tool for patients with muscle disease but no definitive genetic diagnosis after exome ...
Alba Segarra‐Casas, Cristina Domínguez‐González, Daniel Natera‐de Benito, Solange Kapetanovic, Aurelio Hernández‐Laín, Berta Estévez‐Arias, Laura Llansó, Carlos Ortez, Cristina Jou, Itxaso Martí‐Carrera, Arístides López‐Márquez, Maria José Rodríguez, Laura González‐Mera, Velina Nedkova, Roberto Fernández‐Torrón, Benjamín Rodríguez‐Santiago, Cecília Jimenez‐Mallebrera, Raul Juntas‐Morales, Adolfo López‐de Munain, Jordi Surrallés, Andrés Nascimento, Eduard Gallardo, Montse Olivé, Pia Gallano, Lidia González‐Quereda   +24 more
wiley   +1 more source

Postnatal and non-invasive prenatal detection of β-thalassemia mutations based on Taqman genotyping assays. [PDF]

PLoS ONE, 2017
The β-thalassemias are genetic disorder caused by more than 200 mutations in the β-globin gene, resulting in a total (β0) or partial (β+) deficit of the globin chain synthesis. The most frequent Mediterranean mutations for β-thalassemia are: β039, β+IVSI-
Giulia Breveglieri, Anna Travan, Elisabetta D'Aversa, Lucia Carmela Cosenza, Patrizia Pellegatti, Giovanni Guerra, Roberto Gambari, Monica Borgatti   +7 more
doaj   +1 more source

Estimating and accounting for genotyping errors in RAD-seq experiments

bioRxiv, 2019
In non-model organisms, evolutionary questions are frequently addressed using reduced representation sequencing techniques due to their low cost, ease of use, and because they do not require genomic resources such as a reference genome. However, evidence
L. Bresadola, Vivian Link, C. A. Buerkle, C. Lexer, Daniel Wegmann   +4 more
semanticscholar   +1 more source

A Cross-Level Information Transmission Network for Predicting Phenotype from New Genotype: Application to Cancer Precision Medicine [PDF]

arXiv, 2020
An unsolved fundamental problem in biology and ecology is to predict observable traits (phenotypes) from a new genetic constitution (genotype) of an organism under environmental perturbations (e.g., drug treatment). The emergence of multiple omics data provides new opportunities but imposes great challenges in the predictive modeling of genotype ...
arxiv