Zobrazeno 1 - 10
of 19
pro vyhledávání: '"Vincenzo Tegazzin"'
Autor:
Vincenzo Tegazzin
Publikováno v:
Revista Neurociências. 13:68-70
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::934cd1b8a5b293cc1545bd1576840115
https://doi.org/10.34024/rnc.2005.v13.8816
https://doi.org/10.34024/rnc.2005.v13.8816
Autor:
Vincenzo Tegazzin
Publikováno v:
Revista Neurociências. 13:10-11
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::d66e727052752415ccfe6a3beaf9c139
https://doi.org/10.34024/rnc.2005.v13.8798
https://doi.org/10.34024/rnc.2005.v13.8798
Autor:
S. Doetsch, Marko Fiege, Frank Lehmann-Horn, Werner Klingler, R. Fricker, K. Censier, Y Nivoche, J. Schulte am Esch, I. Tzanova, James J. A. Heffron, Vincenzo Tegazzin, Martin Anetseder, Albert Urwyler, Philip M. Hopkins, E. Hartung, P. Felleiter, P.J. Halsall, L. Heytens, C. P. Baur, Frank Wappler, Ralf Weisshorn
Publikováno v:
European journal of anaesthesiology
Background and objective The in vitro contracture test with halothane and caffeine is the gold standard for the diagnosis of susceptibility to malignant hyperthermia (MH). However, the sensitivity of the in vitro contracture test is between 97 and 99
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::abba398ed20b1021a705ba0c1aa04197
https://doi.org/10.1097/00003643-200307000-00003
https://doi.org/10.1097/00003643-200307000-00003
Autor:
Giacomo P. Comi, Joël Lunardi, Albert Urwyler, Bernadette M. Manning, P. J. Adnet, Renee Krivosic-Horber, Patrick J. Lynch, Clemens R. Müller, Tommie V. McCarthy, Werner Wolz, Vincenzo Tegazzin, K. Censier, Kathleen A. Quane
Publikováno v:
Human Mutation. 11:45-50
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::42d8b5a4ce93047d239c87d2edfe552a
https://doi.org/10.1002/(sici)1098-1004(1998)11:1<45::aid-humu7>3.3.co
https://doi.org/10.1002/(sici)1098-1004(1998)11:1<45::aid-humu7>3.3.co
Autor:
F. R. Ellis, H. Kress, H. Ørding, M. Snoeck, S. Cozzolino, W. Mortier, R. Krtvosic‐Horber, James J. A. Heffron, Paul Stieglitz, V. Brancadoro, L. Heytens, Y Nivoche, Albert Urwyler, E. Ranklev‐Twetman, Frank Wappler, Vincenzo Tegazzin, S. Sigurdsson, Frank Lehmann-Horn, P. J. Halsall, G. Kozak‐Ribbens, E. Hartung, V. Glauber, E. F. Gonano
Publikováno v:
Acta Anaesthesiologica Scandinavica. 41:955-966
Background: Determination of sensitivity and specificity of the in vitro contracture test (IVCT) for malignant hyperthermia (MH) susceptibility using the European MH Group (EMHG) protocol has been performed in some laboratories but only on a small sa
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::96a89c00dfd83bcab640836927dea93f
https://doi.org/10.1111/j.1399-6576.1997.tb04820.x
https://doi.org/10.1111/j.1399-6576.1997.tb04820.x
Autor:
Antonio Federico, Alfredo Orrico, S. Gambelli, Gianna Berti, Vincenzo Sorrentino, Carmen Gaudiano, Alessandro Malandrini, Maria Teresa Dotti, Vincenzo Tegazzin, Lucia Galli
Publikováno v:
Anesthesiology. 109(4)
Background Persistent high creatine kinase (CK) levels may reflect underlying subclinical myopathies. In most cases, pathogenesis is unknown and clinical management is unclear. Though clinically asymptomatic, these subjects are potentially susceptibl
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0ceb23f9381c3c0bde302bce25fe6d8b
https://pubmed.ncbi.nlm.nih.gov/18813041
https://pubmed.ncbi.nlm.nih.gov/18813041
Autor:
Daniela Rossi, Francesco Petrioli, Stefania Lorenzini, Alla Lyfenko, Lucia Galli, Alfredo Orrico, Vincenzo Sorrentino, Daniela Franci, Patrick De Smet, Vincenzo Tegazzin, Robert Dirksen, Corrado Angelini
Publikováno v:
Journal of medical genetics. 44(2)
A novel single-nucleotide deletion in exon 100 of the RYR1 gene, corresponding to deletion of nucleotide 14,510 in the human RyR1 mRNA (c14510delA), was identified in a man with malignant hyperthermia and in his two daughters who were normal for mali
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::efcb0f9de286535db02e2101ffce8e01
https://pubmed.ncbi.nlm.nih.gov/17293538
https://pubmed.ncbi.nlm.nih.gov/17293538
Autor:
Lucia Galli, Stefano Censini, Antonello Covacci, Michela Falciani, Stefania Lorenzini, Vincenzo Sorrentino, Alfredo Orrico, Vincenzo Tegazzin
Publikováno v:
Human mutation. 27(8)
Malignant hyperthermia (MH) is a dominantly inherited pharmacogenetic condition that manifests as a life-threatening hypermetabolic reaction when a susceptible individual is exposed to common volatile anesthetics and depolarizing muscle relaxants. Al
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ee40d3a31894844721c171620fa7540d
https://pubmed.ncbi.nlm.nih.gov/16835904
https://pubmed.ncbi.nlm.nih.gov/16835904
Autor:
Dong Qi, David Bendahan, Renee Krivosic-Horber, Joël Lunardi, Dominique Figarella-Branger, Julian Loke, Nicole Monnier, Jean François Payen, Paulette Mezin, Geneviève Kozak-Ribbens, Norma B. Romero, Parveen Sharma, Thierry Depret, David H. MacLennan, Natasha Kraev, Yves Nivoche, Vincenzo Tegazzin
Publikováno v:
Human Mutation
Human Mutation, Wiley, 2005, 26 (5), pp.413-25. ⟨10.1002/humu.20231⟩
Human Mutation, Wiley, 2005, 26(5), pp.413-425
Human Mutation, 2005, 26(5), pp.413-425
Human Mutation, 2005, 26 (5), pp.413-25. ⟨10.1002/humu.20231⟩
Human Mutation, Wiley, 2005, 26 (5), pp.413-25. ⟨10.1002/humu.20231⟩
Human Mutation, Wiley, 2005, 26(5), pp.413-425
Human Mutation, 2005, 26(5), pp.413-425
Human Mutation, 2005, 26 (5), pp.413-25. ⟨10.1002/humu.20231⟩
Malignant hyperthermia susceptibility (MHS) is a subclinical pharmacogenetic disorder caused by an impairment of skeletal muscle calcium homeostasis in response to triggering agents. While in vitro contracture testing (IVCT) is the gold standard for
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::152b6a5dea0710a2b0cb10de9f4350df
https://hal.archives-ouvertes.fr/hal-00092645
https://hal.archives-ouvertes.fr/hal-00092645
Autor:
K. Censier, Antonella Carsana, Philip M. Hopkins, D Olthoff, Thierry Girard, Virginia Brancadoro, L. Heytens, Y Nivoche, M J Anetseder, Henrik Rueffert, R Krivosic, Clemens R. Mueller, Vincenzo Sorrentino, W Klinger, Giuliana Fortunato, G. Kozak‐Ribbens, Vincenzo Tegazzin, Rachel Robinson, C van Broekhoven, Nicole Monnier, Karin Jurkat-Rott
Publikováno v:
European journal of human genetics
Malignant hyperthermia (MH) is a condition that manifests in susceptible individuals only on exposure to certain anaesthetic agents. Although genetically heterogeneous, mutations in the RYR1 gene (19q13.1) are associated with the majority of reported
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::89777d917c721bfcb83173b981d20749
https://pubmed.ncbi.nlm.nih.gov/12700608
https://pubmed.ncbi.nlm.nih.gov/12700608