Search Results - "Parenti, I."

Editorial: Pathogenic mechanisms in neurodevelopmental disorders: advances in cellular models and multi-omics approaches by Hollstein, R., Peron, A., Wendt, K. S., Parenti, I.

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Expanding the clinical spectrum of the 'HDAC8-phenotype' - implications for molecular diagnostics, counseling and risk prediction by Parenti, I., Gervasini, C., Pozojevic, J., Wendt, K.S., Watrin, E., Azzollini, J., Braunholz, D., Buiting, K., Cereda, A., Engels, H., Garavelli, L., Glazar, R., Graffmann, B., Larizza, L., Lüdecke, H.J., Mariani, M., Masciadri, M., Pié, J., Ramos, F.J., Russo, S., Selicorni, A., Stefanova, M., Strom, T.M., Werner, R., Wierzba, J., Zampino, G., Gillessen-Kaesbach, G., Wieczorek, D., Kaiser, F.J.

“…Cornelia de Lange syndrome (CdLS) is a clinically heterogeneous disorder characterized by typical facial dysmorphism, cognitive impairment and multiple…”
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Broadening of cohesinopathies: exome sequencing identifies mutations in ANKRD11 in two patients with Cornelia de Lange-overlapping phenotype by Parenti, I., Gervasini, C., Pozojevic, J., Graul-Neumann, L., Azzollini, J., Braunholz, D., Watrin, E., Wendt, K.S., Cereda, A., Cittaro, D., Gillessen-Kaesbach, G., Lazarevic, D., Mariani, M., Russo, S., Werner, R., Krawitz, P., Larizza, L., Selicorni, A., Kaiser, F.J.

“…Cornelia de Lange syndrome (CdLS) and KBG syndrome are two distinct developmental pathologies sharing common features such as intellectual disability,…”
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Health and wellness tourism in Sicily: development and enhancement by Arnone, R, Bue, S L, Parenti, I

“…Abstract Background The Health Counselor of Sicily in Italy, appointed the “Forum Meridiano Sanità” 2020 dedicated to Health Tourism (HT). Sicily is a member…”
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The role of Emotional Intelligence in health care professionals burnout by Arnone, R, Cascio, M I, Parenti, I

“…Abstract The purpose of this study is to explore the relationship between Emotional Intelligence (EI) and burnout in health care professionals. More…”
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Life skills training to promote health and well-being at school: an evaluation by Cattaneo, C, Giovannelli, I, De Nigris, N, Russo, E, Buoncristiano, M, Rosa, B, Ripoli, G, Parenti, I, Indorato, E

“…Background In educational settings, health promotion refers to a whole-school approach to help individuals realize their potential, cope with the everyday…”
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Burning of a Hadronic Star into a Quark or a Hybrid Star by Drago, Alessandro, Lavagno, Andrea, Parenti, Irene

“…We study the hydrodynamical transition from a hadronic star into a quark or a hybrid star. We discuss the possible mode of burning, using a fully relatlvistic…”
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Nursing community 2.0: a method to promote online collaborative learning by Arnone, R, Cascio, M I, Parenti, I, Catino, A, Zoda, M L, Botta, V C

“…Abstract This article describes a project seeking to establish an online community of practice involving nurses in Sicily, known as Nursing Community 2.0. The…”
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Quark Deconfinement and Implications for the Radius and the Limiting Mass of Compact Stars by Bombaci, Ignazio, Parenti, Irene, Vidaña, Isaac

“…We study the consequences of the hadron-quark deconfinement phase transition in stellar compact objects when finitesize effects between the deconfined quark…”
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MAU2 and NIPBL Variants Impair the Heterodimerization of the Cohesin Loader Subunits and Cause Cornelia de Lange Syndrome by Parenti, Ilaria, Diab, Farah, Gil, Sara Ruiz, Mulugeta, Eskeatnaf, Casa, Valentina, Berutti, Riccardo, Brouwer, Rutger W.W., Dupé, Valerie, Eckhold, Juliane, Graf, Elisabeth, Puisac, Beatriz, Ramos, Feliciano, Schwarzmayr, Thomas, Gines, Macarena Moronta, van Staveren, Thomas, van IJcken, Wilfred F.J., Strom, Tim M., Pié, Juan, Watrin, Erwan, Kaiser, Frank J., Wendt, Kerstin S.

“…The NIPBL/MAU2 heterodimer loads cohesin onto chromatin. Mutations in NIPBL account for most cases of the rare developmental disorder Cornelia de Lange…”
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Novel gene and pathomechanism in Cornelia de Lange syndrome by Parenti, I., Gil, S. Ruiz, Pie, J., Strom, T. M., Brouwer, R., Diab, F., Dupe, V., Gillessen-Kaesbach, G., Mulugeta, E., van Ijcken, W., Ramos, F., Watrin, Erwan, Wendt, K. S., Kaiser, F. J.

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A Compact Star Rotating at 1122 Hz and the r-Mode Instability by Drago, Alessandro, Pagliara, Giuseppe, Parenti, Irene

“…We show that r-mode instabilities severely constrain the composition of a compact star rotating with a submillisecond period. In particular, the only viable…”
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The effect of hydrodynamical instabilities and of convection in the conversion of an hadronic star to a more compact object by Parenti, I., Drago, A., Lavagno, A.

“…We study the hydrodynamical transition from an hadronic star into a quark or a hybrid star. We discuss the possible mode of burning, using a fully relativistic…”
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Role of hyperons on the hadron-star to quark-star conversion mechanism by Vidaña, I., Bombaci, I., Parenti, I.

“…We study the role played by hyperons on the hadron-star to quark-star conversion mechanism proposed recently by Berezhiani and collaborators. We find that the…”
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"VOICE" Vision of Inclusive Community Engagement: A Design Development Study by Parenti, Peter I

“…The ideal American education system is assumed to operate with democratic, inclusive, student-focused principles. Towards that end, recent California…”
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Quark deconfinement and neutrino trapping in compact stars by Vidana, I, Bombaci, I, Parenti, I

“…J.Phys. G31 (2005) S1165-S1170 We study the role played by neutrino trapping on the hadron star (HS) to quark star (QS) conversion mechanism proposed recently…”
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paH gradients in isoelectric focusing experiments at subzero temperatures by Perrella, M, Cremonesi, L, Parenti, I V, Benazzi, L, Rossi-Bernardi, L

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A low cost computerized system for data management in a surgical department by Vannini Parenti, I, Ferrari, G, Zoppi, S, Fiacco, E, Berger, D, Di Carlo, V

“…A computerized system is necessary for a surgical ward in order to document systematically the performed activity and set up a follow-up for patients. The aim…”
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Lysinuric protein intolerance characterized by bone marrow abnormalities and severe clinical course by Parenti, Giancarlo, Sebastio, Gianfranco, Strisciuglio, Pietro, Incerti, Barbara, Pecoraro, Carmine, Terracciano, Luigi, Andria, Generoso

“…Study objective: To evaluate phenotypic variability of lysinuric protein intolerance in a cohort of nine Italian patients. Design: Retrospective analysis of…”
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"Storia fiorentina. I. 1476-78, 1492-96" (a cura di Andrea Matucci) by PARENTI, PIERO DI MARCO

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