Search Results - "POLI, M"

Proteasome disorders and inborn errors of immunity by Poli, M. Cecilia

“…Summary Inborn errors of immunity (IEI) or primary immune deficiencies (PIDD) are caused by variants in genes encoding for molecules that are relevant to the…”
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Prevalence and risk factors associated with diabetes mellitus among middle-aged women in southern Brazil: a population-based study by Oppermann, Karen, Spritzer, Poli M

“…To investigate prevalence and clinical factors associated with diabetes among middle-aged women. In this cross-sectional population-based study, clinical and…”
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Multisystem inflammatory syndrome in children and adults (MIS-C/A): Case definition & guidelines for data collection, analysis, and presentation of immunization safety data by Vogel, Tiphanie P., Top, Karina A., Karatzios, Christos, Hilmers, David C., Tapia, Lorena I., Moceri, Pamela, Giovannini-Chami, Lisa, Wood, Nicholas, Chandler, Rebecca E., Klein, Nicola P., Schlaudecker, Elizabeth P., Poli, M. Cecilia, Muscal, Eyal, Munoz, Flor M.

“…This is a Brighton Collaboration Case Definition of the term “Multisystem Inflammatory Syndrome in Children and Adults (MIS-C/A)” to be utilized in the…”
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Refractory systemic juvenile idiopathic arthritis successfully treated with rapamycin by Concha, Sara, Rey-Jurado, Emma, Poli, M Cecilia, Hoyos-Bachiloglu, Rodrigo, Borzutzky, Arturo

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Coronavirus disease 2019 in patients with inborn errors of immunity: An international study by Meyts, Isabelle, Bucciol, Giorgia, Quinti, Isabella, Neven, Bénédicte, Fischer, Alain, Seoane, Elena, Lopez-Granados, Eduardo, Gianelli, Carla, Robles-Marhuenda, Angel, Jeandel, Pierre-Yves, Paillard, Catherine, Sankaran, Vijay G., Demirdag, Yesim Yilmaz, Lougaris, Vassilios, Aiuti, Alessandro, Plebani, Alessandro, Milito, Cinzia, Dalm, Virgil ASH, Guevara-Hoyer, Kissy, Sánchez-Ramón, Silvia, Bezrodnik, Liliana, Barzaghi, Federica, Gonzalez-Granado, Luis Ignacio, Hayman, Grant R., Uzel, Gulbu, Mendonça, Leonardo Oliveira, Agostini, Carlo, Spadaro, Giuseppe, Badolato, Raffaele, Soresina, Annarosa, Vermeulen, François, Bosteels, Cedric, Lambrecht, Bart N., Keller, Michael, Mustillo, Peter J., Abraham, Roshini S., Gupta, Sudhir, Ozen, Ahmet, Karakoc-Aydiner, Elif, Baris, Safa, Freeman, Alexandra F., Yamazaki-Nakashimada, Marco, Scheffler-Mendoza, Selma, Espinosa-Padilla, Sara, Gennery, Andrew R., Jolles, Stephen, Espinosa, Yazmin, Poli, M. Cecilia, Fieschi, Claire, Hauck, Fabian, Cunningham-Rundles, Charlotte, Mahlaoui, Nizar, Warnatz, Klaus, Sullivan, Kathleen E., Tangye, Stuart G.

“…There is uncertainty about the impact of severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) infection in individuals with rare inborn errors of…”
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New autoinflammatory diseases by Poli, M Cecilia

“…Advances in sequencing techniques and systematic cohort-analysis of patients with autoinflammatory phenotypes have enabled a burst in the recognition of new…”
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Genetic and mechanistic diversity in pediatric hemophagocytic lymphohistiocytosis by Chinn, Ivan K., Eckstein, Olive S., Peckham-Gregory, Erin C., Goldberg, Baruch R., Forbes, Lisa R., Nicholas, Sarah K., Mace, Emily M., Vogel, Tiphanie P., Abhyankar, Harshal A., Diaz, Maria I., Heslop, Helen E., Krance, Robert A., Martinez, Caridad A., Nguyen, Trung C., Bashir, Dalia A., Goldman, Jordana R., Stray-Pedersen, Asbjørg, Pedroza, Luis A., Poli, M. Cecilia, Aldave-Becerra, Juan C., McGhee, Sean A., Al-Herz, Waleed, Chamdin, Aghiad, Coban-Akdemir, Zeynep H., Jhangiani, Shalini N., Muzny, Donna M., Cao, Tram N., Hong, Diana N., Gibbs, Richard A., Lupski, James R., Orange, Jordan S., McClain, Kenneth L., Allen, Carl E.

“…The HLH-2004 criteria are used to diagnose hemophagocytic lymphohistiocytosis (HLH), yet concern exists for their misapplication, resulting in suboptimal…”
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Potassium levels in women with polycystic ovary syndrome using spironolactone for long‐term by deOliveira, Thais A., Marchesan, Lucas B., Spritzer, Poli M.

“…Objective Spironolactone (SPL) has been used to manage hyperandrogenic manifestations in women with polycystic ovary syndrome (PCOS), but data on the risk of…”
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Summary of the theory and modeling contributions at the 29th IAEA Fusion Energy Conference (FEC 2023) by Poli, Francesca M.

“…Abstract The contributions in magnetic confinement fusion theory presented at the 29th Fusion Energy Conference (FEC 2003) are summarized here. This summary…”
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Heterozygous Truncating Variants in POMP Escape Nonsense-Mediated Decay and Cause a Unique Immune Dysregulatory Syndrome by Poli, M. Cecilia, Ebstein, Frédéric, Nicholas, Sarah K., de Guzman, Marietta M., Forbes, Lisa R., Chinn, Ivan K., Mace, Emily M., Vogel, Tiphanie P., Carisey, Alexandre F., Benavides, Felipe, Coban-Akdemir, Zeynep H., Gibbs, Richard A., Jhangiani, Shalini N., Muzny, Donna M., Carvalho, Claudia M.B., Schady, Deborah A., Jain, Mahim, Rosenfeld, Jill A., Emrick, Lisa, Lewis, Richard A., Lee, Brendan, Zieba, Barbara A., Küry, Sébastien, Krüger, Elke, Lupski, James R., Bostwick, Bret L., Orange, Jordan S.

“…The proteasome processes proteins to facilitate immune recognition and host defense. When inherently defective, it can lead to aberrant immunity resulting in a…”
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The 2021 European Alliance of Associations for Rheumatology/American College of Rheumatology Points to Consider for Diagnosis and Management of Autoinflammatory Type I Interferonopathies: CANDLE/PRAAS, SAVI, and AGS by Cetin Gedik, Kader, Lamot, Lovro, Romano, Micol, Demirkaya, Erkan, Piskin, David, Torreggiani, Sofia, Adang, Laura A., Armangue, Thais, Barchus, Kathe, Cordova, Devon R., Crow, Yanick J., Dale, Russell C., Durrant, Karen L., Eleftheriou, Despina, Fazzi, Elisa M., Gattorno, Marco, Gavazzi, Francesco, Hanson, Eric P., Lee‐Kirsch, Min Ae, Montealegre Sanchez, Gina A., Neven, Bénédicte, Orcesi, Simona, Ozen, Seza, Poli, M. Cecilia, Schumacher, Elliot, Tonduti, Davide, Uss, Katsiaryna, Aletaha, Daniel, Feldman, Brian M., Vanderver, Adeline, Brogan, Paul A., Goldbach‐Mansky, Raphaela

“…Objective Autoinflammatory type I interferonopathies, chronic atypical neutrophilic dermatosis with lipodystrophy and elevated…”
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The surface Resistive Plate Counter: An RPC based on resistive MPGD technology by Bencivenni, G., De Oliveira, R., Felici, G., Gatta, M., Giovannetti, M., Morello, G., Papalino, G., Poli Lener, M.

“…The surface Resistive Plate Counter (sRPC) is a revolutionary RPC based on surface resistive electrodes realized with Diamond-Like-Carbon sputtered on Apical®…”
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Clinical validity and utility of preconception expanded carrier screening for the management of reproductive genetic risk in IVF and general population by Capalbo, A, Fabiani, M, Caroselli, S, Poli, M, Girardi, L, Patassini, C, Favero, F, Cimadomo, D, Vaiarelli, A, Simon, C, Rienzi, L F, Ubaldi, F M

“…Abstract STUDY QUESTION What is the clinical validity and utility of preconception Expanded Carrier Screening (ECS) application on the management of…”
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The 2021 European Alliance of Associations for Rheumatology/American College of Rheumatology points to consider for diagnosis and management of autoinflammatory type I interferonopathies: CANDLE/PRAAS, SAVI and AGS by Cetin Gedik, Kader, Lamot, Lovro, Romano, Micol, Demirkaya, Erkan, Piskin, David, Torreggiani, Sofia, Adang, Laura A, Armangue, Thais, Barchus, Kathe, Cordova, Devon R, Crow, Yanick J, Dale, Russell C, Durrant, Karen L, Eleftheriou, Despina, Fazzi, Elisa M, Gattorno, Marco, Gavazzi, Francesco, Hanson, Eric P, Lee-Kirsch, Min Ae, Montealegre Sanchez, Gina A, Neven, Bénédicte, Orcesi, Simona, Ozen, Seza, Poli, M Cecilia, Schumacher, Elliot, Tonduti, Davide, Uss, Katsiaryna, Aletaha, Daniel, Feldman, Brian M, Vanderver, Adeline, Brogan, Paul A, Goldbach-Mansky, Raphaela

“…Autoinflammatory type I interferonopathies, chronic atypical neutrophilic dermatosis with lipodystrophy and elevated temperature/proteasome-associated…”
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A method for semi-automatic grading of human blastocyst microscope images by Filho, E. Santos, Noble, J.A., Poli, M., Griffiths, T., Emerson, G., Wells, D.

“…BACKGROUND The precise assessment of embryo viability is an extremely important factor for the optimization of IVF treatments. In order to assess embryo…”
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Irradiation effects on GEM detectors operated at RUN1 and RUN2 at the LHCb experiment by Poli Lener, M., Alfonsi, M., Bencivenni, G., Brundu, D., Cardini, A., De Simone, P., Giovannetti, M., Murtas, F., Morello, G., Pinci, D., Perez, A.T., Raspino, D., Sgobba, S.

“…Triple-GEM detectors with pad readout have been employed to equip the innermost region (R1) of the first station (M1) within the Muon system of the LHCb…”
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Coprophagia in early life tunes expression of immune genes after weaning in rabbit ileum by Cauquil, L., Beaumont, M., Schmaltz-Panneau, B., Liaubet, L., Lippi, Y., Naylies, C., Bluy, L., Poli, M., Gress, L., Lencina, C., Duranthon, V., Combes, S.

“…Coprophagia by suckling rabbits, i.e. ingestion of feces from their mother, reduces mortality after weaning. We hypothesized that this beneficial effect of…”
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Quantitative trait loci exploration and characterization of gestation length in Holstein cattle by Raschia, M.A., Maizon, D.O., Amadio, A.F., Nani, J.P., Poli, M.A.

“…Gestation length (GL) is a moderately heritable trait in cattle with economic and management implications. This study aimed to characterize the gestation…”
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Editorial: Immune response to gram-negative bacteria in the lungs by Jara-Collao, Agnes, Poli, M Cecilia, Bain, William, Peñaloza, Hernán F.

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Skeletal muscle mass is associated with higher dietary protein intake and lower body fat in postmenopausal women: a cross-sectional study by Silva, Thaís R, Spritzer, Poli M

“…OBJECTIVE:We investigated the association between skeletal muscle mass and dietary protein intake, habitual physical activity, body composition, and metabolic…”
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