Timothy syndrome (English Wikipedia)

Analysis of information sources in references of the Wikipedia article "Timothy syndrome" in English language version.

refsWebsite

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11nih.gov

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6doi.org

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1semanticscholar.org

11^th place

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1harvard.edu

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1worldcat.org

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doi.org

Marks ML, Whisler SL, Clericuzio C, Keating M (January 1995). "A new form of long QT syndrome associated with syndactyly". Journal of the American College of Cardiology. 25 (1): 59–64. doi:10.1016/0735-1097(94)00318-K. PMID 7798527.
Marks ML, Trippel DL, Keating MT (October 1995). "Long QT syndrome associated with syndactyly identified in females". The American Journal of Cardiology. 76 (10): 744–745. doi:10.1016/S0002-9149(99)80216-1. PMID 7572644.
Splawski I, Timothy KW, Sharpe LM, Decher N, Kumar P, Bloise R, et al. (October 2004). "Ca(V)1.2 calcium channel dysfunction causes a multisystem disorder including arrhythmia and autism". Cell. 119 (1): 19–31. doi:10.1016/j.cell.2004.09.011. PMID 15454078. S2CID 15325633.
Bauer R, Timothy KW, Golden A (2021). "Update on the Molecular Genetics of Timothy Syndrome". Frontiers in Pediatrics. 9: 668546. doi:10.3389/fped.2021.668546. PMC 8165229. PMID 34079780.
Splawski I, Timothy KW, Decher N, Kumar P, Sachse FB, Beggs AH, et al. (June 2005). "Severe arrhythmia disorder caused by cardiac L-type calcium channel mutations". Proceedings of the National Academy of Sciences of the United States of America. 102 (23): 8089–8096. Bibcode:2005PNAS..102.8089S. doi:10.1073/pnas.0502506102. PMC 1149428. PMID 15863612.
Porta-Sánchez, Andreu; Mazzanti, Andrea; Tarifa, Carmen; Kukavica, Deni; Trancuccio, Alessandro; Mohsin, Muhammad; Zanfrini, Elisa; Perota, Andrea; Duchi, Roberto; Hernandez-Lopez, Kevin; Jáuregui-Abularach, Miguel Eduardo; Pergola, Valerio; Fernandez, Eugenio; Bongianino, Rossana; Tavazzani, Elisa (2023-12-11). "Unexpected impairment of INa current underpins reentrant arrhythmias in a knock-in swine model of Timothy syndrome". Nature Cardiovascular Research. 2 (12): 1291–1309. doi:10.1038/s44161-023-00393-w. ISSN 2731-0590. PMC 11041658. PMID 38665938.

harvard.edu

ui.adsabs.harvard.edu

Splawski I, Timothy KW, Decher N, Kumar P, Sachse FB, Beggs AH, et al. (June 2005). "Severe arrhythmia disorder caused by cardiac L-type calcium channel mutations". Proceedings of the National Academy of Sciences of the United States of America. 102 (23): 8089–8096. Bibcode:2005PNAS..102.8089S. doi:10.1073/pnas.0502506102. PMC 1149428. PMID 15863612.

nih.gov

pubmed.ncbi.nlm.nih.gov

Napolitano, Carlo; Timothy, Katherine W.; Bloise, Raffaella; Priori, Silvia G. (Feb 11, 2021) [1993]. "CACNA1C-Related Disorders". In Adam, Margaret P.; Feldman, Jerry; Mirzaa, Ghayda; Pagon, Roberta A.; Wallace, Stephanie E.; Bean, Laura J.H.; Gripp, Karen W.; Amemiya, Anne (eds.). GeneReviews. Seattle (WA): University of Washington, Seattle. PMID 20301577.
Marks ML, Whisler SL, Clericuzio C, Keating M (January 1995). "A new form of long QT syndrome associated with syndactyly". Journal of the American College of Cardiology. 25 (1): 59–64. doi:10.1016/0735-1097(94)00318-K. PMID 7798527.
Marks ML, Trippel DL, Keating MT (October 1995). "Long QT syndrome associated with syndactyly identified in females". The American Journal of Cardiology. 76 (10): 744–745. doi:10.1016/S0002-9149(99)80216-1. PMID 7572644.
Splawski I, Timothy KW, Sharpe LM, Decher N, Kumar P, Bloise R, et al. (October 2004). "Ca(V)1.2 calcium channel dysfunction causes a multisystem disorder including arrhythmia and autism". Cell. 119 (1): 19–31. doi:10.1016/j.cell.2004.09.011. PMID 15454078. S2CID 15325633.
Bauer R, Timothy KW, Golden A (2021). "Update on the Molecular Genetics of Timothy Syndrome". Frontiers in Pediatrics. 9: 668546. doi:10.3389/fped.2021.668546. PMC 8165229. PMID 34079780.
Splawski I, Timothy KW, Decher N, Kumar P, Sachse FB, Beggs AH, et al. (June 2005). "Severe arrhythmia disorder caused by cardiac L-type calcium channel mutations". Proceedings of the National Academy of Sciences of the United States of America. 102 (23): 8089–8096. Bibcode:2005PNAS..102.8089S. doi:10.1073/pnas.0502506102. PMC 1149428. PMID 15863612.
Porta-Sánchez, Andreu; Mazzanti, Andrea; Tarifa, Carmen; Kukavica, Deni; Trancuccio, Alessandro; Mohsin, Muhammad; Zanfrini, Elisa; Perota, Andrea; Duchi, Roberto; Hernandez-Lopez, Kevin; Jáuregui-Abularach, Miguel Eduardo; Pergola, Valerio; Fernandez, Eugenio; Bongianino, Rossana; Tavazzani, Elisa (2023-12-11). "Unexpected impairment of INa current underpins reentrant arrhythmias in a knock-in swine model of Timothy syndrome". Nature Cardiovascular Research. 2 (12): 1291–1309. doi:10.1038/s44161-023-00393-w. ISSN 2731-0590. PMC 11041658. PMID 38665938.

ncbi.nlm.nih.gov

Napolitano, Carlo; Timothy, Katherine W.; Bloise, Raffaella; Priori, Silvia G. (Feb 11, 2021) [1993]. "CACNA1C-Related Disorders". In Adam, Margaret P.; Feldman, Jerry; Mirzaa, Ghayda; Pagon, Roberta A.; Wallace, Stephanie E.; Bean, Laura J.H.; Gripp, Karen W.; Amemiya, Anne (eds.). GeneReviews. Seattle (WA): University of Washington, Seattle. PMID 20301577.
Bauer R, Timothy KW, Golden A (2021). "Update on the Molecular Genetics of Timothy Syndrome". Frontiers in Pediatrics. 9: 668546. doi:10.3389/fped.2021.668546. PMC 8165229. PMID 34079780.
Splawski I, Timothy KW, Decher N, Kumar P, Sachse FB, Beggs AH, et al. (June 2005). "Severe arrhythmia disorder caused by cardiac L-type calcium channel mutations". Proceedings of the National Academy of Sciences of the United States of America. 102 (23): 8089–8096. Bibcode:2005PNAS..102.8089S. doi:10.1073/pnas.0502506102. PMC 1149428. PMID 15863612.
Porta-Sánchez, Andreu; Mazzanti, Andrea; Tarifa, Carmen; Kukavica, Deni; Trancuccio, Alessandro; Mohsin, Muhammad; Zanfrini, Elisa; Perota, Andrea; Duchi, Roberto; Hernandez-Lopez, Kevin; Jáuregui-Abularach, Miguel Eduardo; Pergola, Valerio; Fernandez, Eugenio; Bongianino, Rossana; Tavazzani, Elisa (2023-12-11). "Unexpected impairment of INa current underpins reentrant arrhythmias in a knock-in swine model of Timothy syndrome". Nature Cardiovascular Research. 2 (12): 1291–1309. doi:10.1038/s44161-023-00393-w. ISSN 2731-0590. PMC 11041658. PMID 38665938.

semanticscholar.org

api.semanticscholar.org

Splawski I, Timothy KW, Sharpe LM, Decher N, Kumar P, Bloise R, et al. (October 2004). "Ca(V)1.2 calcium channel dysfunction causes a multisystem disorder including arrhythmia and autism". Cell. 119 (1): 19–31. doi:10.1016/j.cell.2004.09.011. PMID 15454078. S2CID 15325633.

worldcat.org

Porta-Sánchez, Andreu; Mazzanti, Andrea; Tarifa, Carmen; Kukavica, Deni; Trancuccio, Alessandro; Mohsin, Muhammad; Zanfrini, Elisa; Perota, Andrea; Duchi, Roberto; Hernandez-Lopez, Kevin; Jáuregui-Abularach, Miguel Eduardo; Pergola, Valerio; Fernandez, Eugenio; Bongianino, Rossana; Tavazzani, Elisa (2023-12-11). "Unexpected impairment of INa current underpins reentrant arrhythmias in a knock-in swine model of Timothy syndrome". Nature Cardiovascular Research. 2 (12): 1291–1309. doi:10.1038/s44161-023-00393-w. ISSN 2731-0590. PMC 11041658. PMID 38665938.