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Research Output 2005 2016

  • 1588 Citations
  • 11 h-Index
  • 22 Article
2016

The genetics underlying acquired long QT syndrome: Impact for genetic screening

Itoh, H., Crotti, L., Aiba, T., Spazzolini, C., Denjoy, I., Fressart, V., Hayashi, K., Nakajima, T., Ohno, S., Makiyama, T., Wu, J., Hasegawa, K., Mastantuono, E., Dagradi, F., Pedrazzini, M., Yamagishi, M., Berthet, M., Murakami, Y., Shimizu, W., Guicheney, P. & 2 others, Schwartz, P. J. & Horie, M., May 7 2016, In : European Heart Journal. 37, 18, p. 1456-1464 9 p.

Research output: Contribution to journalArticle

Long QT Syndrome
Genetic Testing
Mutation
Torsades de Pointes
Inborn Genetic Diseases
56 Citations (Scopus)

The genetics underlying acquired long QT syndrome: Impact for genetic screening

Itoh, H., Crotti, L., Aiba, T., Spazzolini, C., Denjoy, I., Fressart, V., Hayashi, K., Nakajima, T., Ohno, S., Makiyama, T., Wu, J., Hasegawa, K., Mastantuono, E., Dagradi, F., Pedrazzini, M., Yamagishi, M., Berthet, M., Murakami, Y., Shimizu, W., Guicheney, P. & 2 others, Schwartz, P. J. & Horie, M., May 7 2016, In : European Heart Journal. 37, 18, p. 1456-1464 9 p.

Research output: Contribution to journalArticle

Long QT Syndrome
Genetic Testing
Mutation
Torsades de Pointes
Inborn Genetic Diseases
2015
2 Citations (Scopus)

JAK2 exon 14 skipping in patients with primary myelofibrosis: A minor splice variant modulated by the JAK2-V617F allele burden

Catarsi, P., Rosti, V., Morreale, G., Poletto, V., Villani, L., Bertorelli, R., Pedrazzini, M., Zorzetto, M. & Barosi, G., Jan 24 2015, In : PLoS One. 10, 1, e0116636.

Research output: Contribution to journalArticle

Primary Myelofibrosis
exons
Exons
Protein Isoforms
Alleles
2013
180 Citations (Scopus)

Calmodulin mutations associated with recurrent cardiac arrest in infants

Crotti, L., Johnson, C. N., Graf, E., De Ferrari, G. M., Cuneo, B. F., Ovadia, M., Papagiannis, J., Feldkamp, M. D., Rathi, S. G., Kunic, J. D., Pedrazzini, M., Wieland, T., Lichtner, P., Beckmann, B. M., Clark, T., Shaffer, C., Benson, D. W., Kääb, S., Meitinger, T., Strom, T. M. & 3 others, Chazin, W. J., Schwartz, P. J. & George, A. L., Mar 5 2013, In : Circulation. 127, 9, p. 1009-1017 9 p.

Research output: Contribution to journalArticle

Calmodulin
Heart Arrest
Mutation
Exome
Calcium
39 Citations (Scopus)

Identification of a KCNQ1 polymorphism acting as a protective modifier against arrhythmic risk in long-QT syndrome

Duchatelet, S., Crotti, L., Peat, R. A., Denjoy, I., Itoh, H., Berthet, M., Ohno, S., Fressart, V., Monti, M. C., Crocamo, C., Pedrazzini, M., Dagradi, F., Vicentini, A., Klug, D., Brink, P. A., Goosen, A., Swan, H., Toivonen, L., Lahtinen, A. M., Kontula, K. & 6 others, Shimizu, W., Horie, M., George, A. L., Trégouët, D. A., Guicheney, P. & Schwartz, P. J., Aug 2013, In : Circulation: Cardiovascular Genetics. 6, 4, p. 354-361 8 p.

Research output: Contribution to journalArticle

Long QT Syndrome
Mutation
Sudden Death
Adrenergic Agents
Italy
2012
28 Citations (Scopus)

Vagal reflexes following an exercise stress test: A simple clinical tool for gene-specific risk stratification in the long QT syndrome

Crotti, L., Spazzolini, C., Porretta, A. P., Dagradi, F., Taravelli, E., Petracci, B., Vicentini, A., Pedrazzini, M., La Rovere, M. T., Vanoli, E., Goosen, A., Heradien, M., George, A. L., Brink, P. A. & Schwartz, P. J., Dec 18 2012, In : Journal of the American College of Cardiology. 60, 24, p. 2515-2524 10 p.

Research output: Contribution to journalArticle

Long QT Syndrome
Exercise Test
Reflex
Genes
Heart Rate
2009
24 Citations (Scopus)

A KCNH2 branch point mutation causing aberrant splicing contributes to an explanation of genotype-negative long QT syndrome

Crotti, L., Lewandowska, M. A., Schwartz, P. J., Insolia, R., Pedrazzini, M., Bussani, E., Dagradi, F., George, A. L. & Pagani, F., Feb 2009, In : Heart Rhythm. 6, 2, p. 212-218 7 p.

Research output: Contribution to journalArticle

Long QT Syndrome
Point Mutation
Genotype
Mutation
RNA Splice Sites
1 Citation (Scopus)

Novel human pathological mutations. Gene symbol: SCN5A. Disease: Brugada Syndrome.

Crotti, L., Pedrazzini, M., Insolia, R., Cuoretti, A., Ghidoni, A., Dagradi, F., Taravelli, E., Chieffo, E., Vicentini, A. & Schwartz, P. J., Aug 2009, In : Human Genetics. 126, 2, p. 339 1 p.

Research output: Contribution to journalArticle

491 Citations (Scopus)

Prevalence of the congenital long-qt syndrome

Schwartz, P. J., Stramba-Badiale, M., Crotti, L., Pedrazzini, M., Besana, A., Bosi, G., Gabbarini, F., Goulene, K., Insolia, R., Mannarino, S., Mosca, F., Nespoli, L., Rimini, A., Rosati, E., Salice, P. & Spazzolini, C., Nov 2009, In : Circulation. 120, 18, p. 1761-1767 7 p.

Research output: Contribution to journalArticle

Long QT Syndrome
Electrocardiography
Andersen Syndrome
Genotype
Maternity Hospitals
2008
39 Citations (Scopus)

Cardiac potassium channel dysfunction in sudden infant death syndrome

Rhodes, T. E., Abraham, R. L., Welch, R. C., Vanoye, C. G., Crotti, L., Arnestad, M., Insolia, R., Pedrazzini, M., Ferrandi, C., Vege, A., Rognum, T., Roden, D. M., Schwartz, P. J. & George, A. L., Mar 2008, In : Journal of Molecular and Cellular Cardiology. 44, 3, p. 571-581 11 p.

Research output: Contribution to journalArticle

Sudden Infant Death
Potassium Channels
Action Potentials
Cardiac Arrhythmias
Mutation
1 Citation (Scopus)

Gene symbol: SCN5A. Disease: Brugada syndrome.

Crotti, L., Ferrandi, C., Pedrazzini, M., Insolia, R., Cuoretti, A., Sanzo, A., Dagradi, F., De Ferrari, G. M. & Schwartz, P. J., Jun 2008, In : Human Genetics. 123, 5, p. 542 1 p.

Research output: Contribution to journalArticle

Gene symbol: KCNH2. Disease: Long QT syndrome.

Crotti, L., Crotti, L., Pedrazzini, M., Insolia, R., Ferrandi, C., Cuoretti, A., Gandolfi, E., Celano, G., Dagradi, F. & Schwartz, P. J., Jun 2008, In : Human Genetics. 123, 5, p. 540 1 p.

Research output: Contribution to journalArticle

Gene symbol: KCNQ1. Disease: Long QT syndrome.

Crotti, L., Insolia, R., Ferrandi, C., Pedrazzini, M., Cuoretti, A., Gandolfi, E., Sanzo, A., Dagradi, F. & Schwartz, P. J., Jun 2008, In : Human Genetics. 123, 5, p. 541 1 p.

Research output: Contribution to journalArticle

Gene symbol: KCNQ1. Disease: Long QT syndrome.

Crotti, L., Ferrandi, C., Pedrazzini, M., Insolia, R., Cuoretti, A., Celano, G., Dagradi, F., Stramba-Badiale, M. & Schwartz, P. J., Jun 2008, In : Human Genetics. 123, 5, p. 543 1 p.

Research output: Contribution to journalArticle

34 Citations (Scopus)

Malignant perinatal variant of long-QT syndrome caused by a profoundly dysfunctional cardiac sodium channel.

Wang, D. W., Crotti, L., Shimizu, W., Pedrazzini, M., Cantu, F., De Filippo, P., Kishiki, K., Miyazaki, A., Ikeda, T., Schwartz, P. J. & George, A. L., Dec 2008, In : Circulation: Arrhythmia and Electrophysiology. 1, 5, p. 370-378 9 p.

Research output: Contribution to journalArticle

Long QT Syndrome
Sodium Channels
Propranolol
Mexiletine
Mutation
2007
155 Citations (Scopus)

Cardiac sodium channel dysfunction in sudden infant death syndrome

Wang, D. W., Desai, R. R., Crotti, L., Arnestad, M., Insolia, R., Pedrazzini, M., Ferrandi, C., Vege, A., Rognum, T., Schwartz, P. J. & George, A. L., Jan 2007, In : Circulation. 115, 3, p. 368-376 9 p.

Research output: Contribution to journalArticle

Sudden Infant Death
Sodium Channels
Long QT Syndrome
Sodium
Alleles

Gene symbol: SCN5A.

Crotti, L., Ferrandi, C., Insolia, R., Pedrazzini, M., Andreoli, E., Veia, A., Crimi, G., Agnetti, A., De Ferrari, G. M. & Schwartz, P. J., Feb 2007, In : Human Genetics. 120, 6, p. 913 1 p.

Research output: Contribution to journalArticle

Gene symbol: KCNH2.

Crotti, L., Insolia, R., Pedrazzini, M., Andreoli, C., Gabanti, E., Moncalvo, C., Crimi, G., De Ferrari, G. M. & Schwartz, P. J., Feb 2007, In : Human Genetics. 120, 6, p. 911 1 p.

Research output: Contribution to journalArticle

Gene symbol: SCN5A.

Crotti, L., Ferrandi, C., Insolia, R., Pedrazzini, M., Tosin, L., Veia, A., Turco, A., De Ferrari, G. M. & Schwartz, P. J., Feb 2007, In : Human Genetics. 120, 6, p. 911-912 2 p.

Research output: Contribution to journalArticle

2 Citations (Scopus)

Gene symbol: KCNH2.

Crotti, L., Pedrazzini, M., Ferrandi, C., Insolia, R., Tosin, L., Vicentini, A., Turco, A., De Ferrari, G. M. & Schwartz, P. J., Feb 2007, In : Human Genetics. 120, 6, p. 912 1 p.

Research output: Contribution to journalArticle

366 Citations (Scopus)

Prevalence of long-QT syndrome gene variants in sudden infant death syndrome

Arnestad, M., Crotti, L., Rognum, T. O., Insolia, R., Pedrazzini, M., Ferrandi, C., Vege, A., Wang, D. W., Rhodes, T. E., George, A. L. & Schwartz, P. J., Jan 2007, In : Circulation. 115, 3, p. 361-367 7 p.

Research output: Contribution to journalArticle

Long QT Syndrome
Sudden Infant Death
Genes
Sudden Death
Mutation
2005
170 Citations (Scopus)

KCNH2-K897T is a genetic modifier of latent congenital long-QT syndrome

Crotti, L., Lundquist, A. L., Insolia, R., Pedrazzini, M., Ferrandi, C., De Ferrari, G. M., Vicentini, A., Yang, P., Roden, D. M., George, A. L. & Schwartz, P. J., Aug 30 2005, In : Circulation. 112, 9, p. 1251-1258 8 p.

Research output: Contribution to journalArticle

Long QT Syndrome
Alleles
Mutation
Single Nucleotide Polymorphism
Modifier Genes