Primer extension assay for prion protein genotype determination in sheep

Autor: Vaccari, G ^∗, Conte, M, Morelli, L, Di Guardo, G, Petraroli, R, Agrimi, U

Publikováno v: In Molecular and Cellular Probes 2004 18(1):33-37

Variable phenotype in a P102L Gerstmann-Straussler-Scheinker Italian family

Autor: DE MICHELE, GIUSEPPE, SACCA', FRANCESCO, BARBIERI, FABRIZIO, FILLA, ALESSANDRO, POCCHIARI M, PETRAROLI R, MANFREDI M, CANEVE G, COPPOLA G, CASALI C, BERARDELLI A, GHETTI B

Background: Gerstmann-Straussler-Scheinker disease is an autosomal dominant prion disease. The clinical features include ataxia, dementia, spastic paraparesis and extrapyramidal signs. Methods: We report a new large Italian family affected by Gerstma

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=od______3730::dfd06b6c397b99a1b24fdafe422112a0
http://hdl.handle.net/11588/143360

KRAS gene mutation testing an inter-laboratory validated workflow for quality assured, clinical-grade results using capillary electrophoresis

Autor: Petraroli, R., Ballestrero, A., Garuti, A., Rocco, I., Ludovini, V., Pistola, L., Bianconi, Fortunato, Davidson, C., Felton, A.

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=od______3982::edaee57380ef9c05b5a31b998197e0fb
http://hdl.handle.net/11391/173780

Simultaneous detection of lung fusions using a multiplex RT-PCR next generation sequencing-based approach: a multi-institutional research study.

Autor: Vaughn CP; ARUP Institute for Clinical and Experimental Pathology, Salt Lake City, UT, USA., Costa JL; i3S - Instituto de Investigação e Inovação em Saúde, Universidade do Porto, Rua Alfredo Allen 208, 4200-135, Porto, Portugal. jcosta@ipatimup.pt.; IPATIMUP - Institute of Molecular Pathology and Immunology of the University of Porto, Rua Alfredo Allen 208, 4200-135, Porto, Portugal. jcosta@ipatimup.pt.; Medical Faculty of the University of Porto, Porto, Portugal. jcosta@ipatimup.pt., Feilotter HE; Department of Pathology and Molecular Medicine, Queen's University, Kingston, ON, Canada., Petraroli R; Thermo Fisher Scientific, Austin, TX, USA., Bagai V; Thermo Fisher Scientific, Austin, TX, USA., Rachiglio AM; Laboratory of Pharmacogenomics, Centro di Ricerche Oncologiche di Mercogliano (CROM)-Istituto Nazionale Tumori 'Fondazione G. Pascale'-IRCCS, Naples, Italy., Marino FZ; Pathology Unit, Istituto Nazionale Tumori 'Fondazione G. Pascale'-IRCCS, Naples, Italy., Tops B; Department of Pathology, Radboud University Medical Center, Nijmegen, the Netherlands., Kurth HM; Viollier AG, Department of Genetics/Molecular Biology, Basel, Switzerland., Sakai K; Department of Genome Biology, Kinki University Faculty of Medicine, Osaka, Japan., Mafficini A; ARC-NET: Centre for Applied Research on Cancer, Department of Pathology and Diagnostic, University and Hospital Trust of Verona, Verona, Italy., Bastien RRL; ARUP Institute for Clinical and Experimental Pathology, Salt Lake City, UT, USA., Reiman A; Centre for Sport, Exercise and Life Sciences, Coventry University, Coventry, UK., Le Corre D; University Paris Descartes, Paris, France.; Biology Department, Assistance Publique-Hôpitaux de Paris, European Georges Pompidou Hospital, Paris, France., Boag A; Department of Pathology and Molecular Medicine, Queen's University, Kingston, ON, Canada., Crocker S; Department of Pathology and Molecular Medicine, Queen's University, Kingston, ON, Canada., Bihl M; Institute of Pathology, University Hospital Basel, Basel, Switzerland., Hirschmann A; Luzerner Kantonsspital, Luzern, Switzerland., Scarpa A; ARC-NET: Centre for Applied Research on Cancer, Department of Pathology and Diagnostic, University and Hospital Trust of Verona, Verona, Italy., Machado JC; i3S - Instituto de Investigação e Inovação em Saúde, Universidade do Porto, Rua Alfredo Allen 208, 4200-135, Porto, Portugal.; IPATIMUP - Institute of Molecular Pathology and Immunology of the University of Porto, Rua Alfredo Allen 208, 4200-135, Porto, Portugal.; Medical Faculty of the University of Porto, Porto, Portugal., Blons H; University Paris Descartes, Paris, France.; Biology Department, Assistance Publique-Hôpitaux de Paris, European Georges Pompidou Hospital, Paris, France., Sheils O; Trinity Translational Medicine Institute (TTMI), Trinity College Dublin, Dublin, Ireland., Bramlett K; Thermo Fisher Scientific, Austin, TX, USA., Ligtenberg MJL; Department of Pathology, Radboud University Medical Center, Nijmegen, the Netherlands.; Department of Human Genetics, Radboud University Medical Center, Nijmegen, the Netherlands., Cree IA; Department of Pathology, University Hospitals Coventry and Warwickshire, Walsgrave, Coventry, UK., Normanno N; Cell Biology and Biotherapy Unit, Istituto Nazionale Tumori 'Fondazione G. Pascale'-IRCCS, Naples, Italy., Nishio K; Department of Genome Biology, Kinki University Faculty of Medicine, Osaka, Japan., Laurent-Puig P; University Paris Descartes, Paris, France.; Biology Department, Assistance Publique-Hôpitaux de Paris, European Georges Pompidou Hospital, Paris, France.

Publikováno v: BMC cancer [BMC Cancer] 2018 Aug 16; Vol. 18 (1), pp. 828. Date of Electronic Publication: 2018 Aug 16.

A new point mutation of the prion protein gene in Creutzfeldt-Jakob disease

Autor: Pocchiari, M., Salvatore, M., Cutruzzolá, F., Genuardi, M., Allocatelli, C. T., Masullo, C., Macchi, G., Alemá, G., Galgani, S., Xi, Y. G., Petraroli, R., Silvestrini, M. C., Maurizio Brunori

Publikováno v: Scopus-Elsevier

Complete sequencing of the prion protein open reading frame of a 68-year-old woman affected by a familial form of Creutzfeldt-Jakob disease (CJD) revealed a new mutation at codon 210 resulting in the substitution of isoleucine for valine. Moreover, a

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid_dedup__::58de46cd2f9a7c3c834b663f36524034
http://hdl.handle.net/11573/406601