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1
Ventricular arrhythmias in arrhythmic mitral valve syndrome-a prospective continuous long-term cardiac monitoring study
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Ventricular arrhythmias in arrhythmic mitral valve syndrome-a prospective continuous long-term cardiac monitoring study

Aabel, Eivind W ; Chivulescu, Monica ; Lie, Øyvind H ; Hopp, Einar ; Gjertsen, Erik ; Ribe, Margareth ; Helle-Valle, Thomas M ; Edvardsen, Thor ; Hegbom, Finn ; Dejgaard, Lars A ; Haugaa, Kristina H

Europace (London, England), 2023-02, Vol.25 (2), p.506-516 [Periódico revisado por pares]

England: Oxford University Press

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2
Cancer risks by gene, age, and gender in 6350 carriers of pathogenic mismatch repair variants: findings from the Prospective Lynch Syndrome Database
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Artigo
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Cancer risks by gene, age, and gender in 6350 carriers of pathogenic mismatch repair variants: findings from the Prospective Lynch Syndrome Database

Dominguez-Valentin, Mev ; Sampson, Julian R ; Seppälä, Toni T ; ten Broeke, Sanne W ; Plazzer, John-Paul ; Nakken, Sigve ; Engel, Christoph ; Aretz, Stefan ; Jenkins, Mark A ; Sunde, Lone ; Bernstein, Inge ; Capella, Gabriel ; Balaguer, Francesc ; Thomas, Huw ; Evans, D. Gareth ; Burn, John ; Greenblatt, Marc ; Hovig, Eivind ; de Vos tot Nederveen Cappel, Wouter H ; Sijmons, Rolf H ; Bertario, Lucio ; Tibiletti, Maria Grazia ; Cavestro, Giulia Martina ; Lindblom, Annika ; Della Valle, Adriana ; López-Köstner, Francisco ; Gluck, Nathan ; Katz, Lior H ; Heinimann, Karl ; Vaccaro, Carlos A ; Büttner, Reinhard ; Görgens, Heike ; Holinski-Feder, Elke ; Morak, Monika ; Holzapfel, Stefanie ; Hüneburg, Robert ; von Knebel Doeberitz, Magnus ; Loeffler, Markus ; Rahner, Nils ; Schackert, Hans K ; Steinke-Lange, Verena ; Schmiegel, Wolff ; Vangala, Deepak ; Pylvänäinen, Kirsi ; Renkonen-Sinisalo, Laura ; Hopper, John L ; Win, Aung Ko ; Haile, Robert W ; Lindor, Noralane M ; Gallinger, Steven ; Le Marchand, Loïc ; Newcomb, Polly A ; Figueiredo, Jane C ; Thibodeau, Stephen N ; Wadt, Karin ; Therkildsen, Christina ; Okkels, Henrik ; Ketabi, Zohreh ; Moreira, Leticia ; Sánchez, Ariadna ; Serra-Burriel, Miquel ; Pineda, Marta ; Navarro, Matilde ; Blanco, Ignacio ; Green, Kate ; Lalloo, Fiona ; Crosbie, Emma J ; Hill, James ; Denton, Oliver G ; Frayling, Ian M ; Rødland, Einar Andreas ; Vasen, Hans ; Mints, Miriam ; Neffa, Florencia ; Esperon, Patricia ; Alvarez, Karin ; Kariv, Revital ; Rosner, Guy ; Pinero, Tamara Alejandra ; Gonzalez, Maria Laura ; Kalfayan, Pablo ; Tjandra, Douglas ; Winship, Ingrid M ; Macrae, Finlay ; Möslein, Gabriela ; Mecklin, Jukka-Pekka ; Nielsen, Maartje ; Møller, Pål

Genetics in medicine, 2020-01 [Periódico revisado por pares]

Lippincott Williams & Wilkins

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3
Mitral annulus disjunction is associated with adverse outcome in Marfan and Loeys–Dietz syndromes
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Artigo
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Mitral annulus disjunction is associated with adverse outcome in Marfan and Loeys–Dietz syndromes

Chivulescu, Monica ; Krohg-Sørensen, Kirsten ; Scheirlynck, Esther ; Lindberg, Beate R ; Dejgaard, Lars A ; Lie, Øyvind H ; Helle-Valle, Thomas ; Skjølsvik, Eystein T ; Estensen, Mette E ; Edvardsen, Thor ; Lingaas, Per S ; Haugaa, Kristina H

European heart journal cardiovascular imaging, 2021-09, Vol.22 (9), p.1035-1044 [Periódico revisado por pares]

Oxford University Press

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4
Risk-reducing hysterectomy and bilateral salpingo-oophorectomy in female heterozygotes of pathogenic mismatch repair variants: a Prospective Lynch Syndrome Database report
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Artigo
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Risk-reducing hysterectomy and bilateral salpingo-oophorectomy in female heterozygotes of pathogenic mismatch repair variants: a Prospective Lynch Syndrome Database report

Dominguez-Valentin, Mev ; Crosbie, Emma J ; Engel, Christoph ; Aretz, Stefan ; MacRae, Finlay ; Winship, Ingrid ; Capella, Gabriel ; Thomas, Huw ; Nakken, Sigve ; Hovig, Eivind ; Nielsen, Maartje ; Sijmons, Rolf H ; Bertario, Lucio ; Bonanni, Bernardo ; Tibiletti, Maria Grazia ; Cavestro, Giulia Martina ; Mints, Miriam ; Gluck, Nathan ; Katz, Lior ; Heinimann, Karl ; Vaccaro, Carlos A ; Green, Kate ; Lalloo, Fiona ; Hill, James ; Schmiegel, Wolff ; Vangala, Deepak ; Perne, Claudia ; Strauß, Hans-Georg ; Tecklenburg, Johanna ; Holinski-Feder, Elke ; Steinke-Lange, Verena ; Mecklin, Jukka-Pekka ; Plazzer, John-Paul ; Pineda, Marta ; Navarro, Matilde ; Vidal, Joan Brunet ; Kariv, Revital ; Rosner, Guy ; Piñero, Tamara Alejandra ; Gonzalez, María Laura ; Kalfayan, Pablo ; Ryan, Neil ; ten Broeke, Sanne W ; Jenkins, Mark A ; Sunde, Lone ; Bernstein, Inge ; Burn, John ; Greenblatt, Marc ; de Vos tot Nederveen Cappel, Wouter H ; Della Valle, Adriana ; Lopez-Koestner, Francisco ; Alvarez, Karin ; Büttner, Reinhard ; Görgens, Heike ; Morak, Monika ; Holzapfel, Stefanie ; Hüneburg, Robert ; von Knebel Doeberitz, Magnus ; Loeffler, Markus ; Rahner, Nils ; Weitz, Jürgen ; Pylvänäinen, Kirsi ; Renkonen-Sinisalo, Laura ; Lepistö, Anna ; Auranen, Annika ; Hopper, John L ; Win, Aung Ko ; Haile, Robert W ; Lindor, Noralane M ; Gallinger, Steven ; Le Marchand, Loïc ; Newcomb, Polly A ; Figueiredo, Jane C ; Thibodeau, Stephen N ; Therkildsen, Christina ; Okkels, Henrik ; Ketabi, Zohreh ; Denton, Oliver G ; Rødland, Einar Andreas ; Vasen, Hans ; Neffa, Florencia ; Esperon, Patricia ; Tjandra, Douglas ; Möslein, Gabriela ; Sampson, Julian R ; Evans, D. Gareth ; Seppälä, Toni T ; Møller, Pål

Genetics in medicine, 2021-04 [Periódico revisado por pares]

Lippincott Williams & Wilkins

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5
Euclid : Searching for pair-instability supernovae with the Deep Survey
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Artigo
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Euclid : Searching for pair-instability supernovae with the Deep Survey

Moriya, T. J. ; Inserra, C. ; Tanaka, M. ; Cappellaro, E. ; Della Valle, M. ; Hook, I. ; Kotak, R. ; Longo, G. ; Mannucci, F. ; Mattila, S. ; Tao, C. ; Altieri, B. ; Amara, A. ; Auricchio, N. ; Bonino, D. ; Branchini, E. ; Brescia, M. ; Brinchmann, J. ; Capobianco, V. ; Carbone, C. ; Carretero, J. ; Castellano, M. ; Cavuoti, S. ; Cimatti, A. ; Cledassou, R. ; Congedo, G. ; Conselice, C. J. ; Conversi, L. ; Corcione, L. ; Courbin, F. ; Cropper, M. ; Da Silva, A. ; Degaudenzi, H. ; Douspis, M. ; Duncan, C. A. J. ; Dupac, X. ; Dusini, S. ; Ealet, A. ; Farrens, S. ; Ferriol, S. ; Frailis, M. ; Franceschi, E. ; Fumana, M. ; Garilli, B. ; Gillard, W. ; Gillis, B. ; Giocoli, C. ; Grazian, A. ; Grupp, F. ; Haugan, S. V. H. ; Holmes, W. ; Hornstrup, A. ; Jahnke, K. ; Kermiche, S. ; Kiessling, A. ; Kilbinger, M. ; Kitching, T. ; Kurki-Suonio, H. ; Ligori, S. ; Lilje, P. B. ; Maiorano, E. ; Mansutti, O. ; Marggraf, O. ; Markovic, K. ; Marulli, F. ; Massey, R. ; McCracken, H. J. ; Melchior, M. ; Meneghetti, M. ; Meylan, G. ; Moresco, M. ; Moscardini, L. ; Munari, E. ; Niemi, S. M. ; Paltani, S. ; Pettorino, V. ; Poncet, M. ; Popa, L. ; Raison, F. ; Rhodes, J. ; Riccio, G. ; Rossetti, E. ; Saglia, R. ; Sartoris, B. ; Schneider, P. ; Secroun, A. ; Seidel, G. ; Sirignano, C. ; Sirri, G. ; Stanco, L. ; Tallada-Crespí, P. ; Taylor, A. N. ; Tereno, I. ; Toledo-Moreo, R. ; Torradeflot, F. ; Wang, Y. ; Zamorani, G. ; Zoubian, J. ; Scottez, V. ; Morris, P. W.

Astronomy and astrophysics (Berlin), 2022, Vol.666, p.A157 [Periódico revisado por pares]

EDP Sciences

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6
Four-year Cosmology Large Angular Scale Surveyor (CLASS) Observations: On-sky Receiver Performance at 40, 90, 150, and 220 GHz Frequency Bands
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Artigo
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Four-year Cosmology Large Angular Scale Surveyor (CLASS) Observations: On-sky Receiver Performance at 40, 90, 150, and 220 GHz Frequency Bands

Dahal, Sumit ; Appel, John W ; Datta, Rahul ; Brewer, Michael K ; Ali, Aamir ; Bennett, Charles L ; Bustos, Ricardo ; Chan, Manwei ; Chuss, David T ; Cleary, Joseph ; Couto, Jullianna D ; Denis, Kevin L ; Dünner, Rolando ; Eimer, Joseph ; Espinoza, Francisco ; Essinger-Hileman, Thomas ; Golec, Joseph E ; Harrington, Kathleen ; Helson, Kyle ; Iuliano, Jeffrey ; Karakla, John ; Li, Yunyang ; Marriage, Tobias A ; McMahon, Jeffrey J ; Miller, Nathan J ; Novack, Sasha ; Núñez, Carolina ; Osumi, Keisuke ; Padilla, Ivan L ; Palma, Gonzalo A ; Parker, Lucas ; Petroff, Matthew A ; Reeves, Rodrigo ; Rhoades, Gary ; Rostem, Karwan ; Valle, Deniz A. N ; Watts, Duncan ; Weiland, Janet L ; Wollack, Edward J ; Xu, Zhilei

The Astrophysical journal, 2022 [Periódico revisado por pares]

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7
No Difference in Penetrance between Truncating and Missense/Aberrant Splicing Pathogenic Variants in MLH1 and MSH2 : A Prospective Lynch Syndrome Database Study
Material Type:
Artigo
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No Difference in Penetrance between Truncating and Missense/Aberrant Splicing Pathogenic Variants in MLH1 and MSH2 : A Prospective Lynch Syndrome Database Study

Dominguez-Valentin, Mev ; Plazzer, John-Paul ; Sampson, Julian R ; Engel, Christoph ; Aretz, Stefan ; Jenkins, Mark A ; Sunde, Lone ; Bernstein, Inge ; Capella, Gabriel ; Balaguer, Francesc ; Macrae, Finlay ; Winship, Ingrid M ; Thomas, Huw ; Evans, Dafydd Gareth ; Burn, John ; Greenblatt, Marc ; de Vos Tot Nederveen Cappel, Wouter H ; Sijmons, Rolf H ; Nielsen, Maartje ; Bertario, Lucio ; Bonanni, Bernardo ; Tibiletti, Maria Grazia ; Cavestro, Giulia Martina ; Lindblom, Annika ; Valle, Adriana Della ; Lopez-Kostner, Francisco ; Alvarez, Karin ; Gluck, Nathan ; Katz, Lior ; Heinimann, Karl ; Vaccaro, Carlos A ; Nakken, Sigve ; Hovig, Eivind ; Green, Kate ; Lalloo, Fiona ; Hill, James ; Vasen, Hans F A ; Perne, Claudia ; Büttner, Reinhard ; Görgens, Heike ; Holinski-Feder, Elke ; Morak, Monika ; Holzapfel, Stefanie ; Hüneburg, Robert ; von Knebel Doeberitz, Magnus ; Loeffler, Markus ; Rahner, Nils ; Weitz, Jürgen ; Steinke-Lange, Verena ; Schmiegel, Wolff ; Vangala, Deepak ; Crosbie, Emma J ; Pineda, Marta ; Navarro, Matilde ; Brunet, Joan ; Moreira, Leticia ; Sánchez, Ariadna ; Serra-Burriel, Miquel ; Mints, Miriam ; Kariv, Revital ; Rosner, Guy ; Piñero, Tamara Alejandra ; Pavicic, Walter Hernán ; Kalfayan, Pablo ; Broeke, Sanne W Ten ; Mecklin, Jukka-Pekka ; Pylvänäinen, Kirsi ; Renkonen-Sinisalo, Laura ; Lepistö, Anna ; Peltomäki, Päivi ; Hopper, John L ; Win, Aung Ko ; Buchanan, Daniel D ; Lindor, Noralane M ; Gallinger, Steven ; Marchand, Loïc Le ; Newcomb, Polly A ; Figueiredo, Jane C ; Thibodeau, Stephen N ; Therkildsen, Christina ; Hansen, Thomas V O ; Lindberg, Lars ; Rødland, Einar Andreas ; Neffa, Florencia ; Esperon, Patricia ; Tjandra, Douglas ; Möslein, Gabriela ; Seppälä, Toni T ; Møller, Pål

Journal of clinical medicine, 2021-06, Vol.10 (13), p.2856 [Periódico revisado por pares]

Switzerland: MDPI AG

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8
Genetic Associations Between Modifiable Risk Factors and Alzheimer Disease
Material Type:
Artigo
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Genetic Associations Between Modifiable Risk Factors and Alzheimer Disease

Luo, Jiao ; Thomassen, Jesper Qvist ; Bellenguez, Céline ; Grenier-Boley, Benjamin ; de Rojas, Itziar ; Castillo, Atahualpa ; Parveen, Kayenat ; Küçükali, Fahri ; Nicolas, Aude ; Peters, Oliver ; Schneider, Anja ; Dichgans, Martin ; Rujescu, Dan ; Scherbaum, Norbert ; Jürgen, Deckert ; Riedel-Heller, Steffi ; Hausner, Lucrezia ; Porcel, Laura Molina ; Düzel, Emrah ; Grimmer, Timo ; Wiltfang, Jens ; Heilmann-Heimbach, Stefanie ; Moebus, Susanne ; Tegos, Thomas ; Scarmeas, Nikolaos ; Clarimon, Jordi ; Moreno, Fermin ; Pérez-Tur, Jordi ; Bullido, María J ; Pastor, Pau ; Sánchez-Valle, Raquel ; Álvarez, Victoria ; Boada, Mercè ; García-González, Pablo ; Puerta, Raquel ; Mir, Pablo ; Real, Luis M ; Piñol-Ripoll, Gerard ; García-Alberca, Jose María ; Royo, Jose Luís ; Rodriguez-Rodriguez, Eloy ; Soininen, Hilkka ; Kuulasmaa, Teemu ; de Mendonça, Alexandre ; Mehrabian, Shima ; Hort, Jakub ; Vyhnalek, Martin ; van der Lee, Sven ; Graff, Caroline ; Papenberg, Goran ; Giedraitis, Vilmantas ; Boland, Anne ; Bacq-Daian, Delphine ; Deleuze, Jean-François ; Nicolas, Gael ; Dufouil, Carole ; Pasquier, Florence ; Hanon, Olivier ; Debette, Stéphanie ; Grünblatt, Edna ; Popp, Julius ; Benussi, Luisa ; Galimberti, Daniela ; Arosio, Beatrice ; Mecocci, Patrizia ; Solfrizzi, Vincenzo ; Parnetti, Lucilla ; Squassina, Alessio ; Tremolizzo, Lucio ; Borroni, Barbara ; Nacmias, Benedetta ; Sorbi, Sandro ; Caffarra, Paolo ; Seripa, Davide ; Rainero, Innocenzo ; Daniele, Antonio ; Masullo, Carlo ; Spalletta, Gianfranco ; Williams, Julie ; Amouyel, Philippe ; Jessen, Frank ; Kehoe, Patrick ; Tsolaki, Magda ; Rossi, Giacomina ; Sánchez-Juan, Pascual ; Sleegers, Kristel ; Ingelsson, Martin ; Andreassen, Ole A ; Hiltunen, Mikko ; Van Duijn, Cornelia ; Sims, Rebecca ; van der Flier, Wiesje ; Ruiz, Agustín ; Ramirez, Alfredo ; Lambert, Jean-Charles ; Frikke-Schmidt, Ruth

JAMA network open, 2023-05, Vol.6 (5), p.e2313734-e2313734 [Periódico revisado por pares]

United States: American Medical Association

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