High resolution melting analysis for a rapid identification of heterozygous and homozygous sequence changes in the MUTYH gene

Autor: Sestini Roberta, Orlando Claudio, Alvau Antonio, Crucianelli Francesca, Tricarico Rossella, Tonelli Francesco, Valanzano Rosa, Genuardi Maurizio

Publikováno v: BMC Cancer, Vol 11, Iss 1, p 305 (2011)

Abstract Background MUTYH-associated polyposis (MAP) is an autosomal recessive form of intestinal polyposis predisposing to colorectal carcinoma. High resolution melting analysis (HRMA) is a mutation scanning method that allows detection of heterozyg

Externí odkaz: https://doaj.org/article/a5b7c62bfba04ba78c34e32bd924d7d3

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Application of a 5-tiered scheme for standardized classification of 2,360 unique mismatch repair gene variants in the InSiGHT locus-specific database

Autor: Thompson, Bryony A, Spurdle, Amanda B, Plazzer, John-Paul, Greenblatt, Marc S, Akagi, Kiwamu, Al-Mulla, Fahd, Bapat, Bharati, Bernstein, Inge, Capellá, Gabriel, den Dunnen, Johan T, du Sart, Desiree, Fabre, Aurelie, Farrell, Michael P, Farrington, Susan M, Frayling, Ian M, Frebourg, Thierry, Goldgar, David E, Heinen, Christopher D, Holinski-Feder, Elke, Kohonen-Corish, Maija, Robinson, Kristina Lagerstedt, Leung, Suet Yi, Martins, Alexandra, Moller, Pal, Morak, Monika, Nystrom, Minna, Peltomaki, Paivi, Pineda, Marta, Qi, Ming, Ramesar, Rajkumar, Rasmussen, Lene Juel, Royer-Pokora, Brigitte, Scott, Rodney J, Sijmons, Rolf, Tavtigian, Sean V, Tops, Carli M, Weber, Thomas, Wijnen, Juul, Woods, Michael O, Macrae, Finlay, Genuardi, Maurizio, Castillejo, Adela, Sexton, Adrienne, Chan, Anthony K W, Viel, Alessandra, Blanco, Amie, French, Amy, Laner, Andreas, Wagner, Anja, van den Ouweland, Ans, Mensenkamp, Arjen, Payá, Artemio, Betz, Beate, Redeker, Bert, Smith, Betsy, Espenschied, Carin, Cummings, Carole, Engel, Christoph, Fornes, Claudia, Valenzuela, Cristian, Alenda, Cristina, Buchanan, Daniel, Barana, Daniela, Konstantinova, Darina, Cairns, Dianne, Glaser, Elizabeth, Silva, Felipe, Lalloo, Fiona, Crucianelli, Francesca, Hogervorst, Frans, Casey, Graham, Tomlinson, Ian, Blanco, Ignacio, Villar, Isabel López, Garcia-Planells, Javier, Bigler, Jeanette, Shia, Jinru, Martinez-Lopez, Joaquin, Gille, Johan J P, Hopper, John, Potter, John, Soto, José Luis, Kantelinen, Jukka, Ellis, Kate, Mann, Kirsty, Varesco, Liliana, Zhang, Liying, Le Marchand, Loic, Marafie, Makia J, Nordling, Margareta, Tibiletti, Maria Grazia, Kahan, Mariano Ariel, Ligtenberg, Marjolijn, Clendenning, Mark, Jenkins, Mark, Speevak, Marsha, Digweed, Martin, Kloor, Matthias, Hitchins, Megan, Myers, Megan, Aronson, Melyssa, Valentin, Mev Dominguez, Kutsche, Michael, Parsons, Michael, Walsh, Michael, Kansikas, Minttu, Zahary, Mohd Nizam, Pedroni, Monica, Heider, Nao, Poplawski, Nicola, Rahner, Nils, Lindor, Noralane M, Sala, Paola, Nan, Peng, Propping, Peter, Newcomb, Polly, Sarin, Rajiv, Haile, Robert, Hofstra, Robert, Ward, Robyn, Tricarico, Rossella, Bacares, Ruben, Young, Sean, Chialina, Sergio, Kovalenko, Serguei, Gunawardena, Shanaka R, Moreno, Sira, Ho, Siu Lun, Yuen, Siu Tsan, Thibodeau, Stephen N, Gallinger, Steve, Burnett, Terrilea, Teitsch, Therese, Chan, Tsun Leung, Smyrk, Tom, Cranston, Treena, Psofaki, Vasiliki, Steinke-Lange, Verena, Barbera, Victor-Manuel

Publikováno v: Recercat. Dipósit de la Recerca de Catalunya
instname
Nature Genetics
Nature Genetics, Nature Publishing Group, 2014, 46 (2), pp.107-115. ⟨10.1038/ng.2854⟩
Nature Genetics, 46(2), 107
Nature Genetics, 46, 107-15
Nature genetics, 46(2), 107-115. Nature Publishing Group
Nature Genetics, 46(2), 107-+. Nature Publishing Group
Thompson, B A, Spurdle, A B, Plazzer, J-P, Greenblatt, M S, Akagi, K, Al-Mulla, F, Bapat, B, Bernstein, I, Capellá, G, den Dunnen, J T, du Sart, D, Fabre, A, Farrell, M P, Farrington, S M, Frayling, I M, Frebourg, T, Goldgar, D E, Heinen, C D, Holinski-Feder, E, Kohonen-Corish, M, Robinson, K L, Leung, S Y, Martins, A, Moller, P, Morak, M, Nystrom, M, Peltomaki, P, Pineda, M, Qi, M, Ramesar, R, Rasmussen, L J, Royer-Pokora, B, Scott, R J, Sijmons, R, Tavtigian, S V, Tops, C M, Weber, T, Wijnen, J, Woods, M O, Macrae, F, Genuardi, M, Castillejo, A, Sexton, A, Chan, A K W, Viel, A, Blanco, A, French, A, Laner, A, Wagner, A, van den Ouweland, A & on behalf of InSiGHT 2014, ' Application of a 5-tiered scheme for standardized classification of 2,360 unique mismatch repair gene variants in the InSiGHT locus-specific database ', Nature Genetics, vol. 46, no. 2, pp. 107-115 . https://doi.org/10.1038/ng.2854
Dipòsit Digital de la UB
Universidad de Barcelona
Nature Genetics, 46, 2, pp. 107-15
Nature Genetics, 46(2), 107-115.e2. Nature Publishing Group

Contains fulltext : 138857.pdf (Publisher’s version ) (Closed access) The clinical classification of hereditary sequence variants identified in disease-related genes directly affects clinical management of patients and their relatives. The Internat

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::86466f033db6930362efd3088b4995cf
https://hdl.handle.net/1765/58187

A genetic-demographic approach reveals a gender-specific association of SLC6A3/ DAT1 40 bp-VNTR with life-expectancy.

Autor: Hadi, Fazal, Dato, Serena, Carpi, Francesco, Prontera, Paolo, Crucianelli, Francesca, Renda, Federica, Passarino, Giuseppe, Napolioni, Valerio

Publikováno v: Biogerontology; Jun2015, Vol. 16 Issue 3, p365-373, 9p