Results 11 to 20 of about 1,740,047 (309)

ARF1-related disorder: phenotypic and molecular spectrum [PDF]

Journal of Medical Genetics, 2023
Purpose ARF1 was previously implicated in periventricular nodular heterotopia (PVNH) in only five individuals and systematic clinical characterisation was not available. The aim of this study is to provide a comprehensive description of the phenotypic and genotypic spectrum of ARF1-related ...
de Sainte Agathe, Jean-Madeleine, Pode-Shakked, Ben, Naudion, Sophie, Michaud, Vincent, Arveiler, Benoit, Fergelot, Patricia, Delmas, Jean, Keren, Boris, Poirsier, Céline, Alkuraya, Fowzan, Tabarki, Brahim, Bend, Eric, Davis, Kellie, Bebin, Martina, Thompson, Michelle, Bryant, Emily, Wagner, Matias, Hannibal, Iris, Lenberg, Jerica, Krenn, Martin, Wigby, Kristen, Friedman, Jennifer, Iascone, Maria, Cereda, Anna, Miao, Térence, Leguern, Eric, Argilli, Emanuela, Sherr, Elliott, Caluseriu, Oana, Tidwell, Timothy, Bayrak-Toydemir, Pinar, Hagedorn, Caroline, Brugger, Melanie, Vill, Katharina, Morneau-Jacob, Francois-Dominique, Chung, Wendy, Weaver, Kathryn, Owens, Joshua, Husami, Ammar, Chaudhari, Bimal, Stone, Brandon, Burns, Katie, Li, Rachel, de Lange, Iris, Biehler, Margaux, Ginglinger, Emmanuelle, Gérard, Bénédicte, Stottmann, Rolf, Trimouille, Aurélien   +48 more
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Molecular Determinants of the Cardiometabolic Phenotype [PDF]

Endocrine, Metabolic & Immune Disorders - Drug Targets, 2010
The metabolic syndrome represents a clustering of risk factors that has been shown to predict adverse cardiovascular outcomes. Although the precise mechanisms contributing to the cardiometabolic syndrome (CMS) remain poorly defined, accumulating evidence identifies two intersecting candidate pathways responsible for inflammation and energy homeostasis ...
Lisa, de las Fuentes, Giovanni, de Simone, Donna K, Arnett, Víctor G, Dávila-Román   +3 more
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The Molecular Phenotype of Kidney Transplants [PDF]

American Journal of Transplantation, 2010
Microarray studies of kidney transplant biopsies provide an opportunity to define the molecular phenotype. To facilitate this process, we used experimental systems to annotate transcripts as members of pathogenesis-based transcript sets (PBTs) representing biological processes in injured or diseased tissue.
P F, Halloran, D G, de Freitas, G, Einecke, K S, Famulski, L G, Hidalgo, M, Mengel, J, Reeve, J, Sellares, B, Sis   +8 more
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Molecular and phenotypic biomarkers of aging [PDF]

F1000Research, 2017
Individuals of the same age may not age at the same rate. Quantitative biomarkers of aging are valuable tools to measure physiological age, assess the extent of ‘healthy aging’, and potentially predict health span and life span for an individual. Given the complex nature of the aging process, the biomarkers of aging are multilayered and multifaceted ...
Xian Xia, Weiyang Chen, Joseph McDermott, Jing-Dong Jackie Han   +3 more
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A phenotypic and molecular characterization of the fmr1-tm1Cgr Fragile X mouse [PDF]

, 2004
Fragile X Syndrome is the most common form of\ud inherited mental retardation. It is also known for having\ud a substantial behavioral morbidity, including autistic features. In humans, Fragile X Syndrome is almost always\ud caused by inactivation of the
Bauchwitz, Dr. Robert P.
core   +1 more source

Molecular Epidemiology and Infectious Disease Agent Typing Terminology – A Revised Glossary of Key Terms

Journal of Preventive, Diagnostic and Treatment Strategies in Medicine, 2022
Epidemiological tracking of infectious diseases is important to help determine the source and routes of transmission of the causal agent, whether this be a virus, bacterium, fungus, or parasite.
Beverley Cherie Millar, John E. Moore
doaj   +1 more source

The Molecular In Silico Dissection of Cancer using TCLASS and its Application in the Identification of the Tissue of Origin of Cancers of Unknown Primary Site [PDF]

, 2010
Traditional cancer diagnosis relies on a combination of clinical and histo-pathological data. In many cases, however, the morphology of in particular metastatic cancer is not discriminative enough for correct diagnosis.
Torik Ayoubi
core   +2 more sources

Assessing phenotype order in molecular data [PDF]

Scientific Reports, 2019
AbstractBiological entities are key elements of biomedical research. Their definition and their relationships are important in areas such as phylogenetic reconstruction, developmental processes or tumor evolution. Hypotheses about relationships like phenotype order are often postulated based on prior knowledge or belief.
Ludwig Lausser, Lisa M. Schäfer, Lyn-Rouven Schirra, Robin Szekely, Florian Schmid, Hans A. Kestler   +5 more
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BcCluster: a bladder cancer database at the molecular level [PDF]

, 2016
Background: Bladder Cancer (BC) has two clearly distinct phenotypes. Non-muscle invasive BC has good prognosis and is treated with tumor resection and intravesical therapy whereas muscle invasive BC has poor prognosis and requires usually systemic ...
Bhat, Akshay, Jankowski, Vera, Mischak, Harald, Mokou, Marika, Vlahou, Antonia, Zoidakis, Jerome   +5 more
core   +3 more sources

Emerging molecular phenotypes of asthma

American Journal of Physiology-Lung Cellular and Molecular Physiology, 2015
Although asthma has long been considered a heterogeneous disease, attempts to define subgroups of asthma have been limited. In recent years, both clinical and statistical approaches have been utilized to better merge clinical characteristics, biology, and genetics.
Anuradha, Ray, Timothy B, Oriss, Sally E, Wenzel   +2 more
openaire   +3 more sources