694 results on '"Valle, Laura"'
Search Results
52. Processes and evolution of the Pleistocene coastal sedimentary succession of Es Codolar (Southern Eivissa, Balearic Islands, Western Mediterranean): insights from soft-sediment deformation structures
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del Valle, Laura, Pomar, Francesc, Fornós, Joan J., Gelabert, Bernadí, and Timar-Gabor, Alida
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- 2021
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53. Safeguarding intangible cultural heritage for sustainable development. The case of traditional salt activity
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del Valle, Laura, primary
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- 2023
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54. TRANSTORNO DISSOCIATIVO DE IDENTIDADE (MÚLTIPLAS PERSONALIDADES): RELATO E ESTUDO DE CASO NA APS
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Ligeiro, Karen Bon Lima, primary, Valle, Laura Vicari do, additional, and Silva, Thays Scapin Coca da, additional
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- 2020
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55. Gestational diabetes mellitus and Mediterranean diet principles
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Assaf-Balut, Carla, primary, de la Torre, Nuria García, additional, del Valle, Laura, additional, Valerio, Johanna, additional, Durán, Alejandra, additional, Bordiú, Elena, additional, Barabash, Ana, additional, Rubio, Miguel Angel, additional, and Calle-Pascual, Alfonso Luis, additional
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- 2020
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56. Contributors
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Abete, Itziar, primary, Aboussaleh, Youssef, additional, Accardi, Giulia, additional, Aiello, Anna, additional, Alkhatib, Ahmad, additional, Alves Castro, Inar, additional, Andújar, Isabel, additional, Antonopoulou, Smaragdi, additional, Arsic, Aleksandra, additional, Arvanitidou, Eirini-Iro, additional, Assaf-Balut, Carla, additional, Barabash, Ana, additional, Barbagallo, Mario, additional, Bastida, Sara, additional, Beccari, Giovanni, additional, Benedí, Juana, additional, Bentrad, Najla, additional, Bernal-Lopez, M. Rosa, additional, Bonaccio, Marialaura, additional, Bonanni, Americo, additional, Bordiú, Elena, additional, Bottalico, Francesco, additional, Boutopoulou, Barbara, additional, Buscemi, Silvio, additional, Calle-Pascual, Alfonso Luis, additional, Cámara, Montaña, additional, Candore, Giuseppina, additional, Capone, Roberto, additional, Caputo, Marina, additional, Cardone, Gianluigi, additional, Caruso, Calogero, additional, Caso, Giulia, additional, Castro-Quezada, Itandehui, additional, Cebadera-Miranda, Laura, additional, Cerezo, Ana B., additional, Corleo, Davide, additional, Corrêa, Rúbia C.G., additional, Covarelli, Lorenzo, additional, Czarczyńska-Goślińska, Beata, additional, Davinelli, Sergio, additional, del Valle, Laura, additional, Delgado-Andrade, Cristina, additional, Demetriou, Christiana A., additional, Detopoulou, Paraskevi, additional, Di Gioia, Francesco, additional, Diamantopoulos, E.J., additional, Dominguez, Ligia J., additional, Donati, Maria Benedetta, additional, Douros, Konstantinos, additional, Durán, Alejandra, additional, El Bilali, Hamid, additional, El Kinany, Khaoula, additional, El Rhazi, Karima, additional, Ergoren, Mahmut Cerkez, additional, De Feo, Vincenzo, additional, Ferreira, Isabel C.F.R., additional, Formica, Melissa, additional, Fragopoulou, Elizabeth, additional, Fratianni, Florinda, additional, de Gaetano, Giovanni, additional, Gaforio, José J., additional, Galarregui, Cristina, additional, Gallardo-Escribano, Cristina, additional, Galozzi, Paola, additional, Galvano, Fabio, additional, Garces-Martin, Maria, additional, Garcia-Larsen, Vanessa, additional, Garcia-Parrilla, M. Carmen, additional, Garcimartín, Alba, additional, Geliebter, Jan, additional, George, Elena S., additional, Georgousopoulou, Ekavi N., additional, Gesteiro, E., additional, Gkiouras, Konstantinos, additional, Gómez-Pérez, Ana María, additional, Goulis, Dimitrios G., additional, Gouveri, E., additional, Grammatikopoulou, Maria G., additional, Hadjisavvas, Andreas, additional, Hamida-Ferhat, Asma, additional, Hardman, Roy J., additional, Hornedo-Ortega, Ruth, additional, Iacoviello, Licia, additional, Iriti, Marcello, additional, Jeszka-Skowron, Magdalena, additional, Kakkoura, Maria G., additional, Karras, Spyridon N., additional, Knox, E., additional, Kotsa, Kalliopi, additional, Koufakis, Theocharis, additional, Koumpagioti, Despina, additional, Kyriacou, Kyriacos, additional, de la Torre, Nuria García, additional, Lampropoulou, Maria, additional, Loizidou, Maria A., additional, De Lorenzo, Antonino, additional, Macho-González, Adrián, additional, Magriplis, Emmanuella, additional, Marakomichelakis, G., additional, Martínez, J. Alfredo, additional, De Martino, Laura, additional, Medina, F. Xavier, additional, Mellor, Duane D., additional, Menotti, Alessandro, additional, Mesías, Marta, additional, Molina-Vega, María, additional, Morales, Patricia, additional, Moreno, Juan A., additional, Muros, J.J., additional, Nazzaro, Filomena, additional, Nomikos, Tzortzis, additional, Oliviero, Francesca, additional, Ottomano Palmisano, Giovanni, additional, de Pablos, Rocío M., additional, Panagiotakos, Demosthenes B., additional, Papandreou, Christopher, additional, Petropoulos, Spyridon A., additional, Prodam, Flavia, additional, Puddu, Paolo Emilio, additional, Punzi, Leonardo, additional, Quiles, José L., additional, Ramirez-Perez, Cristina, additional, Ramirez-Tortosa, Cesar L., additional, Ramírez-Tortosa, MCarmen, additional, Richard, Tristan, additional, Ricotti, Roberta, additional, Ríos, José-Luis, additional, Rodríguez-García, Carmen, additional, Román-Viñas, Blanca, additional, Ros, Emilio, additional, Rubio, Miguel Angel, additional, Ruiz-Moreno, M. Isabel, additional, Sacerdote, Carlotta, additional, Salas-Salvadó, Jordi, additional, Sánchez-Muniz, Francisco J., additional, Sánchez-Quesada, Cristina, additional, Scapagnini, Giovanni, additional, Scolaro, Bianca, additional, Seiquer, Isabel, additional, Serra-Majem, Lluís, additional, Sfriso, Paolo, additional, Spinella, Paolo, additional, Theodoridis, Xenophon, additional, Tinahones, Francisco J., additional, Tini, Francesco, additional, Tiwari, Raj, additional, Tranidou, Antigoni, additional, Troncoso, Ana M., additional, Tsofliou, Fotini, additional, Tuncel, Gulten, additional, Valerio, Johanna, additional, Varoni, Elena Maria, additional, Vilches-Perez, Alberto, additional, Vineis, Paolo, additional, Vitalini, Sara, additional, Zalvan, Craig H., additional, Zampelas, Antonis, additional, Zebekakis, Pantelis, additional, and Zulet, M. Angeles, additional
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- 2020
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57. Telomere length alterations in microsatellite stable colorectal cancer and association with the immune response
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Lopez-Doriga, Adriana, Valle, Laura, Alonso, M. Henar, Aussó, Susanna, Closa, Adrià, Sanjuan, Xavier, Barquero, David, Rodríguez-Moranta, Francisco, Sanz-Pamplona, Rebeca, and Moreno, Victor
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- 2018
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58. Colon-specific eQTL analysis to inform on functional SNPs
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Moreno, Victor, Alonso, M. Henar, Closa, Adrià, Vallés, Xavier, Diez-Villanueva, Anna, Valle, Laura, Castellví-Bel, Sergi, Sanz-Pamplona, Rebeca, Lopez-Doriga, Adriana, Cordero, David, and Solé, Xavier
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- 2018
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59. Lynch syndrome: a single hereditary cancer syndrome or multiple syndromes defined by different mismatch repair genes?
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Valle, Laura, primary
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- 2023
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60. Position statement of the International Society for Gastrointestinal Hereditary Tumours (InSiGHT) onAPCI1307K and cancer risk
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Valle, Laura, primary, Katz, Lior H, additional, Latchford, Andrew, additional, Mur, Pilar, additional, Moreno, Victor, additional, Frayling, Ian M, additional, Heald, Brandie, additional, and Capellá, Gabriel, additional
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- 2023
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61. Clinical, genetic, epidemiologic, evolutionary, and functional delineation of TSPEAR-related autosomal recessive ectodermal dysplasia 14
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Jackson, Adam, primary, Lin, Sheng-Jia, additional, Jones, Elizabeth A., additional, Chandler, Kate E., additional, Orr, David, additional, Moss, Celia, additional, Haider, Zahra, additional, Ryan, Gavin, additional, Holden, Simon, additional, Harrison, Mike, additional, Burrows, Nigel, additional, Jones, Wendy D., additional, Loveless, Mary, additional, Petree, Cassidy, additional, Stewart, Helen, additional, Low, Karen, additional, Donnelly, Deirdre, additional, Lovell, Simon, additional, Drosou, Konstantina, additional, Varshney, Gaurav K., additional, Banka, Siddharth, additional, Ambrose, J.C., additional, Arumugam, P., additional, Bevers, R., additional, Bleda, M., additional, Boardman-Pretty, F., additional, Boustred, C.R., additional, Brittain, H., additional, Brown, M.A., additional, Caulfield, M.J., additional, Chan, G.C., additional, Giess, A., additional, Griffin, J.N., additional, Hamblin, A., additional, Henderson, S., additional, Hubbard, T.J.P., additional, Jackson, R., additional, Jones, L.J., additional, Kasperaviciute, D., additional, Kayikci, M., additional, Kousathanas, A., additional, Lahnstein, L., additional, Lakey, A., additional, Leigh, S.E.A., additional, Leong, I.U.S., additional, Lopez, F.J., additional, Maleady-Crowe, F., additional, McEntagart, M., additional, Minneci, F., additional, Mitchell, J., additional, Moutsianas, L., additional, Mueller, M., additional, Murugaesu, N., additional, Need, A.C., additional, O‘Donovan, P., additional, Odhams, C.A., additional, Patch, C., additional, Perez-Gil, D., additional, Pereira, M.B., additional, Pullinger, J., additional, Rahim, T., additional, Rendon, A., additional, Rogers, T., additional, Savage, K., additional, Sawant, K., additional, Scott, R.H., additional, Siddiq, A., additional, Sieghart, A., additional, Smith, S.C., additional, Sosinsky, A., additional, Stuckey, A., additional, Tanguy, M., additional, Taylor Tavares, A.L., additional, Thomas, E.R.A., additional, Thompson, S.R., additional, Tucci, A., additional, Welland, M.J., additional, Williams, E., additional, Witkowska, K., additional, Wood, S.M., additional, Zarowiecki, M., additional, Riess, Olaf, additional, Haack, Tobias B., additional, Graessner, Holm, additional, Zurek, Birte, additional, Ellwanger, Kornelia, additional, Ossowski, Stephan, additional, Demidov, German, additional, Sturm, Marc, additional, Schulze-Hentrich, Julia M., additional, Schüle, Rebecca, additional, Kessler, Christoph, additional, Wayand, Melanie, additional, Synofzik, Matthis, additional, Wilke, Carlo, additional, Traschütz, Andreas, additional, Schöls, Ludger, additional, Hengel, Holger, additional, Heutink, Peter, additional, Brunner, Han, additional, Scheffer, Hans, additional, Hoogerbrugge, Nicoline, additional, Hoischen, Alexander, additional, ’t Hoen, Peter A.C., additional, Vissers, Lisenka E.L.M., additional, Gilissen, Christian, additional, Steyaert, Wouter, additional, Sablauskas, Karolis, additional, de Voer, Richarda M., additional, Kamsteeg, Erik-Jan, additional, van de Warrenburg, Bart, additional, van Os, Nienke, additional, Paske, Iris te, additional, Janssen, Erik, additional, de Boer, Elke, additional, Steehouwer, Marloes, additional, Yaldiz, Burcu, additional, Kleefstra, Tjitske, additional, Brookes, Anthony J., additional, Veal, Colin, additional, Gibson, Spencer, additional, Wadsley, Marc, additional, Mehtarizadeh, Mehdi, additional, Riaz, Umar, additional, Warren, Greg, additional, Dizjikan, Farid Yavari, additional, Shorter, Thomas, additional, Töpf, Ana, additional, Straub, Volker, additional, Bettolo, Chiara Marini, additional, Specht, Sabine, additional, Clayton-Smith, Jill, additional, Alexander, Elizabeth, additional, Jackson, Adam, additional, Faivre, Laurence, additional, Thauvin, Christel, additional, Vitobello, Antonio, additional, Denommé-Pichon, Anne-Sophie, additional, Duffourd, Yannis, additional, Tisserant, Emilie, additional, Bruel, Ange-Line, additional, Peyron, Christine, additional, Pélissier, Aurore, additional, Beltran, Sergi, additional, Gut, Ivo Glynne, additional, Laurie, Steven, additional, Piscia, Davide, additional, Matalonga, Leslie, additional, Papakonstantinou, Anastasios, additional, Bullich, Gemma, additional, Corvo, Alberto, additional, Garcia, Carles, additional, Fernandez-Callejo, Marcos, additional, Hernández, Carles, additional, Picó, Daniel, additional, Paramonov, Ida, additional, Lochmüller, Hanns, additional, Gumus, Gulcin, additional, Bros-Facer, Virginie, additional, Rath, Ana, additional, Hanauer, Marc, additional, Olry, Annie, additional, Lagorce, David, additional, Havrylenko, Svitlana, additional, Izem, Katia, additional, Rigour, Fanny, additional, Stevanin, Giovanni, additional, Durr, Alexandra, additional, Davoine, Claire-Sophie, additional, Guillot-Noel, Léna, additional, Heinzmann, Anna, additional, Coarelli, Giulia, additional, Bonne, Gisèle, additional, Evangelista, Teresinha, additional, Allamand, Valérie, additional, Nelson, Isabelle, additional, Ben Yaou, Rabah, additional, Metay, Corinne, additional, Eymard, Bruno, additional, Cohen, Enzo, additional, Atalaia, Antonio, additional, Stojkovic, Tanya, additional, Macek, Milan, additional, Turnovec, Marek, additional, Thomasová, Dana, additional, Kremliková, Radka Pourová, additional, Franková, Vera, additional, Havlovicová, Markéta, additional, Kremlik, Vlastimil, additional, Parkinson, Helen, additional, Keane, Thomas, additional, Spalding, Dylan, additional, Senf, Alexander, additional, Robinson, Peter, additional, Danis, Daniel, additional, Robert, Glenn, additional, Costa, Alessia, additional, Patch, Christine, additional, Hanna, Mike, additional, Houlden, Henry, additional, Reilly, Mary, additional, Vandrovcova, Jana, additional, Muntoni, Francesco, additional, Zaharieva, Irina, additional, Sarkozy, Anna, additional, Timmerman, Vincent, additional, Baets, Jonathan, additional, Van de Vondel, Liedewei, additional, Beijer, Danique, additional, de Jonghe, Peter, additional, Nigro, Vincenzo, additional, Banfi, Sandro, additional, Torella, Annalaura, additional, Musacchia, Francesco, additional, Piluso, Giulio, additional, Ferlini, Alessandra, additional, Selvatici, Rita, additional, Rossi, Rachele, additional, Neri, Marcella, additional, Aretz, Stefan, additional, Spier, Isabel, additional, Sommer, Anna Katharina, additional, Peters, Sophia, additional, Oliveira, Carla, additional, Pelaez, Jose Garcia, additional, Matos, Ana Rita, additional, José, Celina São, additional, Ferreira, Marta, additional, Gullo, Irene, additional, Fernandes, Susana, additional, Garrido, Luzia, additional, Ferreira, Pedro, additional, Carneiro, Fátima, additional, Swertz, Morris A., additional, Johansson, Lennart, additional, van der Velde, Joeri K., additional, van der Vries, Gerben, additional, Neerincx, Pieter B., additional, Roelofs-Prins, Dieuwke, additional, Köhler, Sebastian, additional, Metcalfe, Alison, additional, Verloes, Alain, additional, Drunat, Séverine, additional, Rooryck, Caroline, additional, Trimouille, Aurelien, additional, Castello, Raffaele, additional, Morleo, Manuela, additional, Pinelli, Michele, additional, Varavallo, Alessandra, additional, De la Paz, Manuel Posada, additional, Sánchez, Eva Bermejo, additional, Martín, Estrella López, additional, Delgado, Beatriz Martínez, additional, Alonso García de la Rosa, F. Javier, additional, Ciolfi, Andrea, additional, Dallapiccola, Bruno, additional, Pizzi, Simone, additional, Radio, Francesca Clementina, additional, Tartaglia, Marco, additional, Renieri, Alessandra, additional, Benetti, Elisa, additional, Balicza, Peter, additional, Molnar, Maria Judit, additional, Maver, Ales, additional, Peterlin, Borut, additional, Münchau, Alexander, additional, Lohmann, Katja, additional, Herzog, Rebecca, additional, Pauly, Martje, additional, Macaya, Alfons, additional, Marcé-Grau, Anna, additional, Osorio, Andres Nascimiento, additional, Natera de Benito, Daniel, additional, Thompson, Rachel, additional, Polavarapu, Kiran, additional, Beeson, David, additional, Cossins, Judith, additional, Rodriguez Cruz, Pedro M., additional, Hackman, Peter, additional, Johari, Mridul, additional, Savarese, Marco, additional, Udd, Bjarne, additional, Horvath, Rita, additional, Capella, Gabriel, additional, Valle, Laura, additional, Holinski-Feder, Elke, additional, Laner, Andreas, additional, Steinke-Lange, Verena, additional, Schröck, Evelin, additional, and Rump, Andreas, additional
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- 2023
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62. Recent Discoveries in the Genetics of Familial Colorectal Cancer and Polyposis
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Valle, Laura
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- 2017
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63. Modifiable Risk Factors and Trends in Changes in Glucose Regulation during the First Three Years Postdelivery: The St Carlos Gestational Diabetes Mellitus Prevention Cohort.
- Author
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Arnoriaga-Rodriguez, Maria, Melero, Verónica, Barabash, Ana, Valerio, Johanna, del Valle, Laura, O'Connor, Rocio Martin, de Miguel, Paz, Diaz, José A., Familiar, Cristina, Moraga, Inmaculada, Duran, Alejandra, Jimenez, Inés, Cuesta, Martín, Torrejon, María José, Martinez-Novillo, Mercedes, Runkle, Isabelle, Pazos, Mario, Rubio, Miguel A., Matia-Martín, Pilar, and Calle-Pascual, Alfonso L.
- Abstract
Objective: Evaluation of the influence of potential risk factors (RFs) on glycemic changes at 3 years postpartum. Methods: The glycemic status of 1400 women, in absence of a new pregnancy, was evaluated at 3 months (3 m) and 3 years (3 y) postpartum, after participation in the St. Carlos Gestational Study (2228 normoglycemic pregnant women followed from before gestational week 12 to delivery, from 2015–2017). Abnormal glucose regulation (AGR) was defined as fasting serum glucose ≥ 100 mg/dL and/or HbA1c ≥ 5.7% and/or 2 h 75 g OGTT glucose ≥ 140 mg/dL. In total, 12 modifiable and 3 unmodifiable RFs were analyzed. Results: 3 m postpartum, 110/1400 (7.9%) women had AGR; 3 y postpartum, 137 (9.8%) women exhibited AGR (110 with 3 m normal glucose tolerance [NGT]); 1263 (90.2%) had NGT (83 with 3 m AGR). More women with gestational diabetes mellitus (GDM) progressed to AGR at 3 y (OR: 1.60 [1.33–1.92]) than women without GDM. Yet, most women with 3 m and/or 3 y AGR had no GDM history. Having ≥2 unmodifiable RFs was associated with increased risk for progression to AGR (OR: 1.90 [1.28–2.83]) at 3 y postpartum. Having >5/12 modifiable RFs was associated with increased progression from NGT to AGR (OR: 1.40 [1.00–2.09]) and AGR persistence (OR: 2.57 [1.05–6.31]). Pregestational BMI ≥ 25 kg/m
2 (OR: 0.59 [0.41–0.85]), postdelivery weight gain (OR: 0.53 [0.29–0.94]), and waist circumference > 89.5 cm (OR: 0.54 [0.36–0.79]) reduced the likelihood of NGT persisting at 3 y. Conclusions: 3-month and/or 3-year postpartum AGR can be detected if sought in women with no prior GDM. Modifiable and unmodifiable RF predictors of AGR at 3 y postpartum were identified. Universal screening for glycemic alterations should be considered in all women following delivery, regardless of prior GDM. These findings could be useful to design personalized strategies in women with risk factors for 3 y AGR. [ABSTRACT FROM AUTHOR]- Published
- 2023
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64. Position statement of the International Society for Gastrointestinal Hereditary Tumours (InSiGHT) on APC I1307K and cancer risk.
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Valle, Laura, Katz, Lior H., Latchford, Andrew, Mur, Pilar, Moreno, Victor, Frayling, Ian M., Heald, Brandie, and Capellá, Gabriel
- Abstract
While constitutional pathogenic variants in the APC gene cause familial adenomatous polyposis, APC c.3920T>A; p.Ile1307Lys (I1307K) has been associated with a moderate increased risk of colorectal cancer (CRC), particularly in individuals of Ashkenazi Jewish descent. However, published data include relatively small sample sizes, generating inconclusive results regarding cancer risk, particularly in non-Ashkenazi populations. This has led to different country/continental-specific guidelines regarding genetic testing, clinical management and surveillance recommendations for I1307K. A multidisciplinary international expert group endorsed by the International Society for Gastrointestinal Hereditary Tumours (InSiGHT), has generated a position statement on the APC I1307K allele and its association with cancer predisposition. Based on a systematic review and meta-analysis of the evidence published, the aim of this document is to summarise the prevalence of the APC I1307K allele and analysed the evidence of the associated cancer risk in different populations. Here we provide recommendations on the laboratory classification of the variant, define the role of predictive testing for I1307K, suggest recommendations for cancer screening in I1307K heterozygous and homozygous individuals and identify knowledge gaps to be addressed in future research studies. Briefly, I1307K, classified as pathogenic, low penetrance, is a risk factor for CRC in individuals of Ashkenazi Jewish origin and should be tested in this population, offering carriers specific clinical surveillance. There is not enough evidence to support an increased risk of cancer in other populations/subpopulations. Therefore, until/unless future evidence indicates otherwise, individuals of non-Ashkenazi Jewish descent harbouring I1307K should be enrolled in national CRC screening programmes for average-risk individuals. [ABSTRACT FROM AUTHOR]
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- 2023
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65. ÁREAS BRASILEIRAS ÁPTAS A OCORRÊNCIA MENSAL de Thaumastocoris peregrinus EM Eucalyptus spp.
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Pessoa, Maria Conceição Peres Young, primary, Mingoti, Rafael, additional, Marinho-Prado, Jeanne Scardini, additional, Sá, Luiz Alexandre Nogueira de, additional, Valle, Laura Butti do, additional, Lovisi Filho, Elio, additional, Beraldo, Giovanna Naves, additional, and Farias, André Rodrigo, additional
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- 2019
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66. Political Power from Elite Family Networks in Colonial Buenos Aires
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del Valle, Laura C., primary and Larrosa, Juan M. C., additional
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- 2019
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67. Twist exome capture allows for lower average sequence coverage in clinical exome sequencing
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Yaldiz, Burcu, Kucuk, Erdi, Hampstead, Juliet, Hofste, Tom, Pfundt, Rolph, Corominas Galbany, Jordi, Rinne, Tuula, Yntema, Helger G., Hoischen, Alexander, Nelen, Marcel, Gilissen, Christian, consortium, Solve-R. D., Riess, Olaf, Haack, Tobias B., Graessner, Holm, Zurek, Birte, Ellwanger, Kornelia, Ossowski, Stephan, Demidov, German, Sturm, Marc, Schulze-Hentrich, Julia M., Schüle, Rebecca, Xu, Jishu, Kessler, Christoph, Wayand, Melanie, Synofzik, Matthis, Wilke, Carlo, Traschütz, Andreas, Schöls, Ludger, Hengel, Holger, Lerche, Holger, Kegele, Josua, Heutink, Peter, Brunner, Han, Scheffer, Hans, Hoogerbrugge, Nicoline, Hoen, Peter A. C. T, Vissers, Lisenka E. L. M., Steyaert, Wouter, Sablauskas, Karolis, de Voer, Richarda M., Kamsteeg, Erik-Jan, van de Warrenburg, Bart, van Os, Nienke, te Paske, Iris, Janssen, Erik, de Boer, Elke, Steehouwer, Marloes, Kleefstra, Tjitske, Brookes, Anthony J., Veal, Colin, Gibson, Spencer, Maddi, Vatsalya, Mehtarizadeh, Mehdi, Riaz, Umar, Warren, Greg, Dizjikan, Farid Yavari, Shorter, Thomas, Töpf, Ana, Straub, Volker, Bettolo, Chiara Marini, Manera, Jordi Diaz, Hambleton, Sophie, Engelhardt, Karin, Clayton-Smith, Jill, Banka, Siddharth, Alexander, Elizabeth, Jackson, Adam, Faivre, Laurence, Thauvin, Christel, Vitobello, Antonio, Denommé-Pichon, Anne-Sophie, Duffourd, Yannis, Bruel, Ange-Line, Peyron, Christine, Pélissier, Aurore, Beltran, Sergi, Gut, Ivo Glynne, Laurie, Steven, Piscia, Davide, Matalonga, Leslie, Papakonstantinou, Anastasios, Bullich, Gemma, Corvo, Alberto, Fernandez-Callejo, Marcos, Hernández, Carles, Picó, Daniel, Paramonov, Ida, Lochmüller, Hanns, Gumus, Gulcin, Bros-Facer, Virginie, Rath, Ana, Hanauer, Marc, Lagorce, David, Hongnat, Oscar, Chahdil, Maroua, Lebreton, Emeline, Stevanin, Giovanni, Durr, Alexandra, Davoine, Claire-Sophie, Guillot-Noel, Léna, Heinzmann, Anna, Coarelli, Giulia, Bonne, Gisèle, Evangelista, Teresinha, Allamand, Valérie, Nelson, Isabelle, Yaou, Rabah Ben, Metay, Corinne, Eymard, Bruno, Cohen, Enzo, Atalaia, Antonio, Stojkovic, Tanya, Macek, Milan, Turnovec, Marek, Thomasová, Dana, Kremliková, Radka Pourová, Franková, Vera, Havlovicová, Markéta, Lišková, Petra, Doležalová, Pavla, Parkinson, Helen, Keane, Thomas, Freeberg, Mallory, Thomas, Coline, Spalding, Dylan, Robinson, Peter, Danis, Daniel, Robert, Glenn, Costa, Alessia, Patch, Christine, Hanna, Mike, Houlden, Henry, Reilly, Mary, Vandrovcova, Jana, Efthymiou, Stephanie, Morsy, Heba, Cali, Elisa, Magrinelli, Francesca, Sisodiya, Sanjay M., Rohrer, Jonathan, Muntoni, Francesco, Zaharieva, Irina, Sarkozy, Anna, Timmerman, Vincent, Baets, Jonathan, de Vries, Geert, De Winter, Jonathan, Beijer, Danique, de Jonghe, Peter, Van de Vondel, Liedewei, De Ridder, Willem, Weckhuysen, Sarah, Nigro, Vincenzo, Mutarelli, Margherita, Morleo, Manuela, Pinelli, Michele, Varavallo, Alessandra, Banfi, Sandro, Torella, Annalaura, Musacchia, Francesco, Piluso, Giulio, Ferlini, Alessandra, Selvatici, Rita, Gualandi, Francesca, Bigoni, Stefania, Rossi, Rachele, Neri, Marcella, Aretz, Stefan, Spier, Isabel, Sommer, Anna Katharina, Peters, Sophia, Oliveira, Carla, Pelaez, Jose Garcia, Matos, Ana Rita, José, Celina São, Ferreira, Marta, Gullo, Irene, Fernandes, Susana, Garrido, Luzia, Ferreira, Pedro, Carneiro, Fátima, Swertz, Morris A., Johansson, Lennart, van der Velde, Joeri K., van der Vries, Gerben, Neerincx, Pieter B., Ruvolo, David, Abbott, Kristin M., Frederikse, Wilhemina Skerstjens, Zonneveld-Huijssoon, Eveline, Roelofs-Prins, Dieuwke, van Gijn, Marielle, Köhler, Sebastian, Metcalfe, Alison, Verloes, Alain, Drunat, Séverine, Heron, Delphine, Mignot, Cyril, Keren, Boris, de Sainte Agathe, Jean-Madeleine, Rooryck, Caroline, Lacombe, Didier, Trimouille, Aurelien, De la Paz, Manuel Posada, Sánchez, Eva Bermejo, Martín, Estrella López, Delgado, Beatriz Martínez, de la Rosa, F. Javier Alonso García, Ciolfi, Andrea, Dallapiccola, Bruno, Pizzi, Simone, Radio, Francesca Clementina, Tartaglia, Marco, Renieri, Alessandra, Furini, Simone, Fallerini, Chiara, Benetti, Elisa, Balicza, Peter, Molnar, Maria Judit, Maver, Ales, Peterlin, Borut, Münchau, Alexander, Lohmann, Katja, Herzog, Rebecca, Pauly, Martje, Macaya, Alfons, Cazurro-Gutiérrez, Ana, Pérez-Dueñas, Belén, Munell, Francina, Jarava, Clara Franco, Masó, Laura Batlle, Marcé-Grau, Anna, Colobran, Roger, Osorio, Andrés Nascimento, de Benito, Daniel Natera, Thompson, Rachel, Polavarapu, Kiran, Grimbacher, Bodo, Beeson, David, Cossins, Judith, Hackman, Peter, Johari, Mridul, Savarese, Marco, Udd, Bjarne, Horvath, Rita, Chinnery, Patrick F., Ratnaike, Thiloka, Gao, Fei, Schon, Katherine, Capella, Gabriel, Valle, Laura, Holinski-Feder, Elke, Laner, Andreas, Steinke-Lange, Verena, Schröck, Evelin, Rump, Andreas, Başak, Ayşe Nazlı, Hemelsoet, Dimitri, Dermaut, Bart, Schuermans, Nika, Poppe, Bruce, Verdin, Hannah, Mei, Davide, Vetro, Annalisa, Balestrini, Simona, Guerrini, Renzo, Claeys, Kristl, Santen, Gijs W. E., Bijlsma, Emilia K., Hoffer, Mariette J. V., Ruivenkamp, Claudia A. L., Boztug, Kaan, Haimel, Matthias, Maystadt, Isabelle, Cordts, Isabelle, Deschauer, Marcus, Zaganas, Ioannis, Kokosali, Evgenia, Lambros, Mathioudakis, Evangeliou, Athanasios, Spilioti, Martha, Kapaki, Elisabeth, Bourbouli, Mara, Striano, Pasquale, Zara, Federico, Riva, Antonella, Iacomino, Michele, Uva, Paolo, Scala, Marcello, Scudieri, Paolo, Cilio, Maria-Roberta, Carpancea, Evelina, Depondt, Chantal, Lederer, Damien, Sznajer, Yves, Duerinckx, Sarah, Mary, Sandrine, Depienne, Christel, Roos, Andreas, May, Patrick, and Luxembourg Centre for Systems Biomedicine (LCSB): Bioinformatics Core (R. Schneider Group) [research center]
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Multidisciplinaire, généralités & autres [D99] [Sciences de la santé humaine] ,Genetics & genetic processes [F10] [Life sciences] ,Génétique & processus génétiques [F10] [Sciences du vivant] ,Multidisciplinary, general & others [D99] [Human health sciences] - Abstract
Background Exome and genome sequencing are the predominant techniques in the diagnosis and research of genetic disorders. Sufficient, uniform and reproducible/consistent sequence coverage is a main determinant for the sensitivity to detect single-nucleotide (SNVs) and copy number variants (CNVs). Here we compared the ability to obtain comprehensive exome coverage for recent exome capture kits and genome sequencing techniques. Results We compared three different widely used enrichment kits (Agilent SureSelect Human All Exon V5, Agilent SureSelect Human All Exon V7 and Twist Bioscience) as well as short-read and long-read WGS. We show that the Twist exome capture significantly improves complete coverage and coverage uniformity across coding regions compared to other exome capture kits. Twist performance is comparable to that of both short- and long-read whole genome sequencing. Additionally, we show that even at a reduced average coverage of 70× there is only minimal loss in sensitivity for SNV and CNV detection. Conclusion We conclude that exome sequencing with Twist represents a significant improvement and could be performed at lower sequence coverage compared to other exome capture techniques.
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- 2023
68. Supplementary Table 1 from Exome Sequencing Reveals AMER1 as a Frequently Mutated Gene in Colorectal Cancer
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Sanz-Pamplona, Rebeca, primary, Lopez-Doriga, Adriana, primary, Paré-Brunet, Laia, primary, Lázaro, Kira, primary, Bellido, Fernando, primary, Alonso, M. Henar, primary, Aussó, Susanna, primary, Guinó, Elisabet, primary, Beltrán, Sergi, primary, Castro-Giner, Francesc, primary, Gut, Marta, primary, Sanjuan, Xavier, primary, Closa, Adria, primary, Cordero, David, primary, Morón-Duran, Francisco D., primary, Soriano, Antonio, primary, Salazar, Ramón, primary, Valle, Laura, primary, and Moreno, Victor, primary
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- 2023
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69. supplementary material legends from Exome Sequencing Reveals AMER1 as a Frequently Mutated Gene in Colorectal Cancer
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Sanz-Pamplona, Rebeca, primary, Lopez-Doriga, Adriana, primary, Paré-Brunet, Laia, primary, Lázaro, Kira, primary, Bellido, Fernando, primary, Alonso, M. Henar, primary, Aussó, Susanna, primary, Guinó, Elisabet, primary, Beltrán, Sergi, primary, Castro-Giner, Francesc, primary, Gut, Marta, primary, Sanjuan, Xavier, primary, Closa, Adria, primary, Cordero, David, primary, Morón-Duran, Francisco D., primary, Soriano, Antonio, primary, Salazar, Ramón, primary, Valle, Laura, primary, and Moreno, Victor, primary
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- 2023
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70. Supplementary Table 5 from Exome Sequencing Reveals AMER1 as a Frequently Mutated Gene in Colorectal Cancer
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Sanz-Pamplona, Rebeca, primary, Lopez-Doriga, Adriana, primary, Paré-Brunet, Laia, primary, Lázaro, Kira, primary, Bellido, Fernando, primary, Alonso, M. Henar, primary, Aussó, Susanna, primary, Guinó, Elisabet, primary, Beltrán, Sergi, primary, Castro-Giner, Francesc, primary, Gut, Marta, primary, Sanjuan, Xavier, primary, Closa, Adria, primary, Cordero, David, primary, Morón-Duran, Francisco D., primary, Soriano, Antonio, primary, Salazar, Ramón, primary, Valle, Laura, primary, and Moreno, Victor, primary
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- 2023
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71. Supplementary Table 2 from Exome Sequencing Reveals AMER1 as a Frequently Mutated Gene in Colorectal Cancer
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Sanz-Pamplona, Rebeca, primary, Lopez-Doriga, Adriana, primary, Paré-Brunet, Laia, primary, Lázaro, Kira, primary, Bellido, Fernando, primary, Alonso, M. Henar, primary, Aussó, Susanna, primary, Guinó, Elisabet, primary, Beltrán, Sergi, primary, Castro-Giner, Francesc, primary, Gut, Marta, primary, Sanjuan, Xavier, primary, Closa, Adria, primary, Cordero, David, primary, Morón-Duran, Francisco D., primary, Soriano, Antonio, primary, Salazar, Ramón, primary, Valle, Laura, primary, and Moreno, Victor, primary
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- 2023
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72. Supplementary Table 8 from Exome Sequencing Reveals AMER1 as a Frequently Mutated Gene in Colorectal Cancer
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Sanz-Pamplona, Rebeca, primary, Lopez-Doriga, Adriana, primary, Paré-Brunet, Laia, primary, Lázaro, Kira, primary, Bellido, Fernando, primary, Alonso, M. Henar, primary, Aussó, Susanna, primary, Guinó, Elisabet, primary, Beltrán, Sergi, primary, Castro-Giner, Francesc, primary, Gut, Marta, primary, Sanjuan, Xavier, primary, Closa, Adria, primary, Cordero, David, primary, Morón-Duran, Francisco D., primary, Soriano, Antonio, primary, Salazar, Ramón, primary, Valle, Laura, primary, and Moreno, Victor, primary
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- 2023
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73. Supplementary Table 7 from Exome Sequencing Reveals AMER1 as a Frequently Mutated Gene in Colorectal Cancer
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Sanz-Pamplona, Rebeca, primary, Lopez-Doriga, Adriana, primary, Paré-Brunet, Laia, primary, Lázaro, Kira, primary, Bellido, Fernando, primary, Alonso, M. Henar, primary, Aussó, Susanna, primary, Guinó, Elisabet, primary, Beltrán, Sergi, primary, Castro-Giner, Francesc, primary, Gut, Marta, primary, Sanjuan, Xavier, primary, Closa, Adria, primary, Cordero, David, primary, Morón-Duran, Francisco D., primary, Soriano, Antonio, primary, Salazar, Ramón, primary, Valle, Laura, primary, and Moreno, Victor, primary
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- 2023
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74. Data from Exome Sequencing Reveals AMER1 as a Frequently Mutated Gene in Colorectal Cancer
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Sanz-Pamplona, Rebeca, primary, Lopez-Doriga, Adriana, primary, Paré-Brunet, Laia, primary, Lázaro, Kira, primary, Bellido, Fernando, primary, Alonso, M. Henar, primary, Aussó, Susanna, primary, Guinó, Elisabet, primary, Beltrán, Sergi, primary, Castro-Giner, Francesc, primary, Gut, Marta, primary, Sanjuan, Xavier, primary, Closa, Adria, primary, Cordero, David, primary, Morón-Duran, Francisco D., primary, Soriano, Antonio, primary, Salazar, Ramón, primary, Valle, Laura, primary, and Moreno, Victor, primary
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- 2023
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75. Supplementary Table 3 from Exome Sequencing Reveals AMER1 as a Frequently Mutated Gene in Colorectal Cancer
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Sanz-Pamplona, Rebeca, primary, Lopez-Doriga, Adriana, primary, Paré-Brunet, Laia, primary, Lázaro, Kira, primary, Bellido, Fernando, primary, Alonso, M. Henar, primary, Aussó, Susanna, primary, Guinó, Elisabet, primary, Beltrán, Sergi, primary, Castro-Giner, Francesc, primary, Gut, Marta, primary, Sanjuan, Xavier, primary, Closa, Adria, primary, Cordero, David, primary, Morón-Duran, Francisco D., primary, Soriano, Antonio, primary, Salazar, Ramón, primary, Valle, Laura, primary, and Moreno, Victor, primary
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- 2023
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76. Supplementary Table 4 from Exome Sequencing Reveals AMER1 as a Frequently Mutated Gene in Colorectal Cancer
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Sanz-Pamplona, Rebeca, primary, Lopez-Doriga, Adriana, primary, Paré-Brunet, Laia, primary, Lázaro, Kira, primary, Bellido, Fernando, primary, Alonso, M. Henar, primary, Aussó, Susanna, primary, Guinó, Elisabet, primary, Beltrán, Sergi, primary, Castro-Giner, Francesc, primary, Gut, Marta, primary, Sanjuan, Xavier, primary, Closa, Adria, primary, Cordero, David, primary, Morón-Duran, Francisco D., primary, Soriano, Antonio, primary, Salazar, Ramón, primary, Valle, Laura, primary, and Moreno, Victor, primary
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- 2023
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77. Supplementary Table 6 from Exome Sequencing Reveals AMER1 as a Frequently Mutated Gene in Colorectal Cancer
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Sanz-Pamplona, Rebeca, primary, Lopez-Doriga, Adriana, primary, Paré-Brunet, Laia, primary, Lázaro, Kira, primary, Bellido, Fernando, primary, Alonso, M. Henar, primary, Aussó, Susanna, primary, Guinó, Elisabet, primary, Beltrán, Sergi, primary, Castro-Giner, Francesc, primary, Gut, Marta, primary, Sanjuan, Xavier, primary, Closa, Adria, primary, Cordero, David, primary, Morón-Duran, Francisco D., primary, Soriano, Antonio, primary, Salazar, Ramón, primary, Valle, Laura, primary, and Moreno, Victor, primary
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- 2023
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78. Supplementary Figures from Exome Sequencing Reveals AMER1 as a Frequently Mutated Gene in Colorectal Cancer
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Sanz-Pamplona, Rebeca, primary, Lopez-Doriga, Adriana, primary, Paré-Brunet, Laia, primary, Lázaro, Kira, primary, Bellido, Fernando, primary, Alonso, M. Henar, primary, Aussó, Susanna, primary, Guinó, Elisabet, primary, Beltrán, Sergi, primary, Castro-Giner, Francesc, primary, Gut, Marta, primary, Sanjuan, Xavier, primary, Closa, Adria, primary, Cordero, David, primary, Morón-Duran, Francisco D., primary, Soriano, Antonio, primary, Salazar, Ramón, primary, Valle, Laura, primary, and Moreno, Victor, primary
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- 2023
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79. Data from Tgfbr1 Haploinsufficiency Is a Potent Modifier of Colorectal Cancer Development
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Zeng, Qinghua, primary, Phukan, Sharbani, primary, Xu, Yanfei, primary, Sadim, Maureen, primary, Rosman, Diana S., primary, Pennison, Michael, primary, Liao, Jie, primary, Yang, Guang-Yu, primary, Huang, Chiang-Ching, primary, Valle, Laura, primary, Di Cristofano, Antonio, primary, de la Chapelle, Albert, primary, and Pasche, Boris, primary
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- 2023
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80. Supplementary Figure 1 from Tgfbr1 Haploinsufficiency Is a Potent Modifier of Colorectal Cancer Development
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Zeng, Qinghua, primary, Phukan, Sharbani, primary, Xu, Yanfei, primary, Sadim, Maureen, primary, Rosman, Diana S., primary, Pennison, Michael, primary, Liao, Jie, primary, Yang, Guang-Yu, primary, Huang, Chiang-Ching, primary, Valle, Laura, primary, Di Cristofano, Antonio, primary, de la Chapelle, Albert, primary, and Pasche, Boris, primary
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- 2023
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81. Tumor mutation burden in colorectal cancers with POLE exonuclease and non-exonuclease domain variants.
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Ringenbach, Salena, primary, Shah, Shreya M., additional, Demidova, Elena, additional, Faezov, Bulat, additional, Andrake, Mark D., additional, Mur, Pilar, additional, Xiu, Joanne, additional, Korn, Wolfgang Michael, additional, Goel, Sanjay, additional, Lenz, Heinz-Josef, additional, Marshall, John, additional, Shields, Anthony Frank, additional, Oberley, Matthew James, additional, Spetzler, David, additional, Valle, Laura, additional, Dunbrack, Roland, additional, Hall, Michael J., additional, and Arora, Sanjeevani, additional
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- 2023
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82. Middle to Late Pleistocene dunefields in rocky coast settings at Cala Xuclar (Eivissa, Western Mediterranean): Recognition, architecture and luminescence chronology
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del Valle, Laura, Gómez-Pujol, Lluís, Fornós, Joan J., Timar-Gabor, Alida, Anechitei–Deacu, Valentina, and Pomar, Francesc
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- 2016
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83. Lifestyle patterns in early pregnancy linked to gestational diabetes mellitus diagnoses when using IADPSG criteria. The St Carlos gestational study
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Ruiz-Gracia, Teresa, Duran, Alejandra, Fuentes, Manuel, Rubio, Miguel A., Runkle, Isabelle, Carrera, Evelyn F., Torrejón, María J., Bordiú, Elena, Valle, Laura del, García de la Torre, Nuria, Bedia, Ana R., Montañez, Carmen, Familiar, Cristina, and Calle-Pascual, Alfonso L.
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- 2016
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84. Reply to: “Development of an MSI-positive colon tumor with aberrant DNA methylation in a PPAP patient”
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Mur, Pilar, Palles, Claire, Tomlinson, Ian, and Valle, Laura
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- 2020
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85. P64 Carotid Artery Tracking with Automated Wall Position Resets Yields Robust Distension Waveforms in Long-term Ultrasonic Recordings
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Beutel, Fabian, Valle, Laura Mansilla, Hoof , Chris Van, and Hermeling, Evelien
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- 2019
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86. NTHL1 biallelic mutations seldom cause colorectal cancer, serrated polyposis or a multi-tumor phenotype, in absence of colorectal adenomas
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Belhadj, Sami, Quintana, Isabel, Mur, Pilar, Munoz-Torres, Pau M., Alonso, M. Henar, Navarro, Matilde, Terradas, Mariona, Piñol, Virginia, Brunet, Joan, Moreno, Victor, Lázaro, Conxi, Capellá, Gabriel, and Valle, Laura
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- 2019
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87. An Early Mediterranean-Based Nutritional Intervention during Pregnancy Reduces Metabolic Syndrome and Glucose Dysregulation Rates at 3 Years Postpartum.
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Melero, Verónica, Arnoriaga, Maria, Barabash, Ana, Valerio, Johanna, del Valle, Laura, Martin O'Connor, Rocio, de Miguel, Maria Paz, Diaz, Jose Angel, Familiar, Cristina, Moraga, Inmaculada, Duran, Alejandra, Cuesta, Martín, Torrejon, María José, Martinez-Novillo, Mercedes, Moreno, Maria, Romera, Gisela, Runkle, Isabelle, Pazos, Mario, Rubio, Miguel A., and Matia-Martín, Pilar
- Abstract
A Mediterranean diet (MedDiet)-based intervention reduces the rate of immediate postpartum maternal metabolic disorders. Whether these effects persist long-term remains to be determined. A total of 2526 normoglycemic women were randomized before the 12th gestational week (GW). IG women followed a MedDiet with extra virgin olive oil (EVOO) (>40 mL/day) and a handful of nuts daily, whereas CG women had to restrict all kinds of dietary fat. At 3 months postpartum, a motivational lifestyle interview was held. The endpoint of the study evaluated the rate of abnormal glucose regulation (AGR) and metabolic syndrome (MetS) at 3 years postpartum in women of the San Carlos cohort. A total of 369/625 (59%) CG women and 1031/1603 (64.3%) IG women were finally analyzed. At 3 months and 3 years postdelivery, the IG women showed higher adherence to the MedDiet, which was associated with lower values of body mass index (BMI) and lipid and glycemic profiles. Body weight change and waist circumference were lower in the IG women. After applying multiple regression analysis, the ORs (95%CI) resulted in AGR (3.18 (2.48–4.08); p < 0.001)/MetS (3.79 (1.81–7.95); p = 0.001) for women with GDM and higher OR for development of MetS in CG women (3.73 (1.77–7.87); p = 0.001). A MedDiet-based intervention early in pregnancy demonstrated persistent beneficial effects on AGR and MetS rates at 3 years postpartum. [ABSTRACT FROM AUTHOR]
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- 2023
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88. Diabetes mellitus and abnormal glucose tolerance development after gestational diabetes: A three-year, prospective, randomized, clinical-based, Mediterranean lifestyle interventional study with parallel groups
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Pérez-Ferre, Natalia, Del Valle, Laura, Torrejón, Maria José, Barca, Idoya, Calvo, María Isabel, Matía, Pilar, Rubio, Miguel A., and Calle-Pascual, Alfonso L.
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- 2015
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89. Co-occurring mutations in the POLE exonuclease and non-exonuclease domains define a unique subset of highly mutagenic tumors
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Shah, Shreya M., primary, Demidova, Elena V., additional, Ringenbach, Salena, additional, Faezov, Bulat, additional, Andrake, Mark, additional, Mur, Pilar, additional, Viana-Errasti, Julen, additional, Xiu, Joanne, additional, Swensen, Jeffrey, additional, Valle, Laura, additional, Dunbrack, Roland L., additional, Hall, Michael J., additional, and Arora, Sanjeevani, additional
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- 2022
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90. Wnt genes in colonic polyposis predisposition
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Quintana, Isabel, primary, Terradas, Mariona, additional, Mur, Pilar, additional, te Paske, Iris B.A.W., additional, Peters, Sophia, additional, Spier, Isabel, additional, Steinke-Lange, Verena, additional, Maestro, Claudia, additional, Torrents, David, additional, Puiggròs, Montserrat, additional, Royo, Romina, additional, Tonda, Raul, additional, Parra, Genís, additional, Piscia, Davide, additional, Beltrán, Sergi, additional, Navarro, Matilde, additional, Piñol, Virginia, additional, Brunet, Joan, additional, Gonzalez-Abuin, Noemi, additional, Aiza, Gemma, additional, Sommer, Anna, additional, van Herwaarden, Yasmijn, additional, Astuti, Galuh, additional, Holinski-Feder, Elke, additional, Hoogerbrugge, Nicoline, additional, de Voer, Richarda M., additional, Aretz, Stefan, additional, Capellá, Gabriel, additional, and Valle, Laura, additional
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- 2022
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91. The Relationship between Serum Adipokines, miR-222-3p, miR-103a-3p and Glucose Regulation in Pregnancy and Two to Three Years Post-Delivery in Women with Gestational Diabetes Mellitus Adhering to Mediterranean Diet Recommendations
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Valerio, Johanna, primary, Barabash, Ana, additional, Garcia de la Torre, Nuria, additional, De Miguel, Paz, additional, Melero, Verónica, additional, del Valle, Laura, additional, Moraga, Inmaculada, additional, Familiar, Cristina, additional, Durán, Alejandra, additional, Torrejón, Maria Jose, additional, Diaz, Angel, additional, Jiménez, Inés, additional, Matia, Pilar, additional, Rubio, Miguel Angel, additional, and Calle-Pascual, Alfonso Luis, additional
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- 2022
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92. Vitamin D, Oxidative Stress and Glycaemic Control in Subjects with Type 2 Diabetes Mellitus: Systematic Review
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Ramos, Roxana Valdés, primary, Román-Casas, Mariana, additional, Martínez-Carrillo, Beatriz E., additional, Valle, Laura S. Gaona, additional, and Malpica, Itzelt Pérez, additional
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- 2022
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93. The Effect of Dietary Patterns on Inflammatory Biomarkers in Adults with Type 2 Diabetes Mellitus: A Systematic Review and Meta-Analysis of Randomized Controlled Trials
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Sánchez-Rosales, Abril I., primary, Guadarrama-López, Ana L., additional, Gaona-Valle, Laura S., additional, Martínez-Carrillo, Beatriz E., additional, and Valdés-Ramos, Roxana, additional
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- 2022
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94. Germline mutations inWNK2could be associated with serrated polyposis syndrome
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Soares de Lima, Yasmin, primary, Arnau-Collell, Coral, additional, Muñoz, Jenifer, additional, Herrera-Pariente, Cristina, additional, Moreira, Leticia, additional, Ocaña, Teresa, additional, Díaz-Gay, Marcos, additional, Franch-Expósito, Sebastià, additional, Cuatrecasas, Miriam, additional, Carballal, Sabela, additional, Lopez-Novo, Anael, additional, Moreno, Lorena, additional, Fernàndez, Guerau, additional, Díaz de Bustamante, Aranzazu, additional, Peters, Sophia, additional, Sommer, Anna K, additional, Spier, Isabel, additional, te Paske, Iris B A W, additional, van Herwaarden, Yasmijn J, additional, Castells, Antoni, additional, Bujanda, Luis, additional, Capellà, Gabriel, additional, Steinke-Lange, Verena, additional, Mahmood, Khalid, additional, Joo, JiHoon Eric, additional, Arnold, Julie, additional, Parry, Susan, additional, Macrae, Finlay A, additional, Winship, Ingrid M, additional, Rosty, Christophe, additional, Cubiella, Joaquin, additional, Rodríguez-Alcalde, Daniel, additional, Holinski-Feder, Elke, additional, de Voer, Richarda, additional, Buchanan, Daniel D, additional, Aretz, Stefan, additional, Ruiz-Ponte, Clara, additional, Valle, Laura, additional, Balaguer, Francesc, additional, Bonjoch, Laia, additional, and Castellvi-Bel, Sergi, additional
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- 2022
- Full Text
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95. Genetic variants for prediction of gestational diabetes mellitus and modulation of susceptibility by a nutritional intervention based on a Mediterranean diet
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Ramos-Levi, Ana, primary, Barabash, Ana, additional, Valerio, Johanna, additional, García de la Torre, Nuria, additional, Mendizabal, Leire, additional, Zulueta, Mirella, additional, de Miguel, Maria Paz, additional, Diaz, Angel, additional, Duran, Alejandra, additional, Familiar, Cristina, additional, Jimenez, Inés, additional, del Valle, Laura, additional, Melero, Veronica, additional, Moraga, Inmaculada, additional, Herraiz, Miguel A., additional, Torrejon, María José, additional, Arregi, Maddi, additional, Simón, Laureano, additional, Rubio, Miguel A., additional, and Calle-Pascual, Alfonso L., additional
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- 2022
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- View/download PDF
96. Solving unsolved rare neurological diseases-a Solve-RD viewpoint
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Schüle, Rebecca, Timmann, Dagmar, Erasmus, Corrie E., Reichbauer, Jennifer, Wayand, Melanie, Solve-RD-DITF-RND Baets Jonathan Balicza Peter Chinnery Patrick Dürr Alexandra Haack Tobias Hengel Holger Horvath Rita Houlden Henry Kamsteeg Erik-Jan Kamsteeg Christoph Lohmann Katja Macaya Alfons Marcé-Grau Anna Maver Ales Molnar Judit Münchau Alexander Peterlin Borut Riess Olaf Schöls Ludger European Reference Network for Rare Neurological Diseases, Tübingen, Germany Schüle Rebecca European Reference Network for Rare Neurological Diseases, Tübingen, Germany Stevanin Giovanni Synofzik Matthis European Reference Network for Rare Neurological Diseases, Tübingen, Germany Timmerman Vincent van de Warrenburg Bart Department of Neurology, Donders Centre for Brain, Cognition and Behavior, Radboud University Medical Center, Nijmegen, The Netherlands van Os Nienke Vandrovcova Jana Wayand Melanie German Center for Neurodegenerative Diseases (DZNE), University of Tübingen, Tübingen, Germany Wilke Carlo German Center for Neurodegenerative Diseases (DZNE), University of Tübingen, Tübingen, Germany, Baets, Jonathan, Balicza, Peter, Chinnery, Patrick, Dürr, Alexandra, Haack, Tobias, Hengel, Holger, Horvath, Rita, Houlden, Henry, Kamsteeg, Erik-Jan, Kamsteeg, Christoph, Lohmann, Katja, Macaya, Alfons, Marcé-Grau, Anna, Maver, Ales, Molnar, Judit, Münchau, Alexander, Peterlin, Borut, Riess, Olaf, Schöls, Ludger, Stevanin, Giovanni, Synofzik, Matthis, Timmerman, Vincent, van de Warrenburg, Bart, van Os, Nienke, Vandrovcova, Jana, Wilke, Carlo, Bevot, Andrea, Zuchner, Stephan, Beltran, Sergi, Laurie, Steven, Matalonga, Leslie, Graessner, Holm, The Solve-RD Consortium Graessner Holm Institute of Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany Zurek Birte Ellwanger Kornelia Ossowski Stephan Demidov German Sturm Marc Schulze-Hentrich Julia M. Heutink Peter Brunner Han Scheffer Hans Hoogerbrugge Nicoline Hoischen Alexander ’t Hoen Peter A. C. Vissers Lisenka E. L. M. Gilissen Christian Steyaert Wouter Sablauskas Karolis de Voer Richarda M. Janssen Erik de Boer Elke Steehouwer Marloes Yaldiz Burcu Kleefstra Tjitske Brookes Anthony J. Veal Colin Gibson Spencer Wadsley Marc Mehtarizadeh Mehdi Riaz Umar Warren Greg Dizjikan Farid Yavari Shorter Thomas Töpf Ana Straub Volker Bettolo Chiara Marini Specht Sabine Clayton-Smith Jill Banka Siddharth Alexander Elizabeth Jackson Adam Faivre Laurence Thauvin Christel Vitobello Antonio Denommé-Pichon Anne-Sophie Duffourd Yannis Tisserant Emilie Bruel Ange-Line Peyron Christine Pélissier Aurore Beltran Sergi Facultat de Biologia, Departament de Genètica, Microbiologia i Estadística, Universitat de Barcelona (UB), Barcelona, Spain Gut Ivo Glynne Laurie Steven CNAG-CRG, Centre for Genomic Regulation (CRG), Barcelona Institute of Science and Technology (BIST), Barcelona, Spain Piscia Davide Matalonga Leslie CNAG-CRG, Centre for Genomic Regulation (CRG), Barcelona Institute of Science and Technology (BIST), Barcelona, Spain Papakonstantinou Anastasios Bullich Gemma Corvo Alberto Garcia Carles Fernandez-Callejo Marcos Hernández Carles Picó Daniel Paramonov Ida Lochmüller Hanns Gumus Gulcin Bros-Facer Virginie Rath Ana Hanauer Marc Olry Annie Lagorce David Havrylenko Svitlana Izem Katia Rigour Fanny Durr Alexandra Davoine Claire-Sophie Guillot-Noel Léna Heinzmann Anna Coarelli Giulia Bonne Gisèle Evangelista Teresinha Allamand Valérie Nelson Isabelle Yaou Rabah Ben Metay Corinne Eymard Bruno Cohen Enzo Atalaia Antonio Stojkovic Tanya Macek Milan Jr. Turnovec Marek Thomasová Dana Kremliková Radka Pourová Franková Vera Havlovicová Markéta Kremlik Vlastimil Parkinson Helen Keane Thomas Spalding Dylan Senf Alexander Robinson Peter Danis Daniel Robert Glenn Costa Alessia Patch Christine Hanna Mike Houlden Henry Reilly Mary Vandrovcova Jana Muntoni Francesco Zaharieva Irina Sarkozy Anna de Jonghe Peter Nigro Vincenzo Banfi Sandro Torella Annalaura Musacchia Francesco Piluso Giulio Ferlini Alessandra Selvatici Rita Rossi Rachele Neri Marcella Aretz Stefan Spier Isabel Sommer Anna Katharina Peters Sophia Oliveira Carla Pelaez Jose Garcia Matos Ana Rita José Celina São Ferreira Marta Gullo Irene Fernandes Susana Garrido Luzia Ferreira Pedro Carneiro Fátima Swertz Morris A. Johansson Lennart van der Velde Joeri K. van der Vries Gerben Neerincx Pieter B. Roelofs-Prins Dieuwke Köhler Sebastian Metcalfe Alison Verloes Alain Drunat Séverine Rooryck Caroline Trimouille Aurelien Castello Raffaele Morleo Manuela Pinelli Michele Varavallo Alessandra De la Paz Manuel Posada Sánchez Eva Bermejo Martín Estrella López Delgado Beatriz Martínez de la Rosa F. Javier Alonso García Ciolfi Andrea Dallapiccola Bruno Pizzi Simone Radio Francesca Clementina Tartaglia Marco Renieri Alessandra Benetti Elisa Balicza Peter Molnar Maria Judit Maver Ales Peterlin Borut Münchau Alexander Lohmann Katja Herzog Rebecca Pauly Martje Macaya Alfons Marcé-Grau Anna Osorio Andres Nascimiento de Benito Daniel Natera Lochmüller Hanns Thompson Rachel Polavarapu Kiran Beeson David Cossins Judith Cruz Pedro M. Rodriguez Hackman Peter Johari Mridul Savarese Marco Udd Bjarne Horvath Rita Capella Gabriel Valle Laura Holinski-Feder Elke Laner Andreas Steinke-Lange Verena Schröck Evelin Rump Andreas, Zurek, Birte, Ellwanger, Kornelia, Ossowski, Stephan, Demidov, German, Sturm, Marc, Schulze-Hentrich, Julia M., Heutink, Peter, Brunner, Han, Scheffer, Hans, Hoogerbrugge, Nicoline, Hoischen, Alexander, ’t Hoen, Peter A. C., Vissers, Lisenka E. L. M., Gilissen, Christian, Steyaert, Wouter, Sablauskas, Karolis, de Voer, Richarda M., Janssen, Erik, de Boer, Elke, Steehouwer, Marloes, Yaldiz, Burcu, Kleefstra, Tjitske, Brookes, Anthony J., Veal, Colin, Gibson, Spencer, Wadsley, Marc, Mehtarizadeh, Mehdi, Riaz, Umar, Warren, Greg, Dizjikan, Farid Yavari, Shorter, Thomas, Töpf, Ana, Straub, Volker, Bettolo, Chiara Marini, Specht, Sabine, Clayton-Smith, Jill, Banka, Siddharth, Alexander, Elizabeth, Jackson, Adam, Faivre, Laurence, Thauvin, Christel, Vitobello, Antonio, Denommé-Pichon, Anne-Sophie, Duffourd, Yannis, Tisserant, Emilie, Bruel, Ange-Line, Peyron, Christine, Pélissier, Aurore, Gut, Ivo Glynne, Piscia, Davide, Papakonstantinou, Anastasios, Bullich, Gemma, Corvo, Alberto, Garcia, Carles, Fernandez-Callejo, Marcos, Hernández, Carles, Picó, Daniel, Paramonov, Ida, Lochmüller, Hanns, Gumus, Gulcin, Bros-Facer, Virginie, Rath, Ana, Hanauer, Marc, Olry, Annie, Lagorce, David, Havrylenko, Svitlana, Izem, Katia, Rigour, Fanny, Durr, Alexandra, Davoine, Claire-Sophie, Guillot-Noel, Léna, Heinzmann, Anna, Coarelli, Giulia, Bonne, Gisèle, Evangelista, Teresinha, Allamand, Valérie, Nelson, Isabelle, Yaou, Rabah Ben, Metay, Corinne, Eymard, Bruno, Cohen, Enzo, Atalaia, Antonio, Stojkovic, Tanya, Macek, Milan, Turnovec, Marek, Thomasová, Dana, Kremliková, Radka Pourová, Franková, Vera, Havlovicová, Markéta, Kremlik, Vlastimil, Parkinson, Helen, Keane, Thomas, Spalding, Dylan, Senf, Alexander, Robinson, Peter, Danis, Daniel, Robert, Glenn, Costa, Alessia, Patch, Christine, Hanna, Mike, Reilly, Mary, Muntoni, Francesco, Zaharieva, Irina, Sarkozy, Anna, de Jonghe, Peter, Nigro, Vincenzo, Banfi, Sandro, Torella, Annalaura, Musacchia, Francesco, Piluso, Giulio, Ferlini, Alessandra, Selvatici, Rita, Rossi, Rachele, Neri, Marcella, Aretz, Stefan, Spier, Isabel, Sommer, Anna Katharina, Peters, Sophia, Oliveira, Carla, Pelaez, Jose Garcia, Matos, Ana Rita, José, Celina São, Ferreira, Marta, Gullo, Irene, Fernandes, Susana, Garrido, Luzia, Ferreira, Pedro, Carneiro, Fátima, Swertz, Morris A., Johansson, Lennart, van der Velde, Joeri K., van der Vries, Gerben, Neerincx, Pieter B., Roelofs-Prins, Dieuwke, Köhler, Sebastian, Metcalfe, Alison, Verloes, Alain, Drunat, Séverine, Rooryck, Caroline, Trimouille, Aurelien, Castello, Raffaele, Morleo, Manuela, Pinelli, Michele, Varavallo, Alessandra, De la Paz, Manuel Posada, Sánchez, Eva Bermejo, Martín, Estrella López, Delgado, Beatriz Martínez, de la Rosa, F. Javier Alonso García, Ciolfi, Andrea, Dallapiccola, Bruno, Pizzi, Simone, Radio, Francesca Clementina, Tartaglia, Marco, Renieri, Alessandra, Benetti, Elisa, Molnar, Maria Judit, Herzog, Rebecca, Pauly, Martje, Osorio, Andres Nascimiento, de Benito, Daniel Natera, Thompson, Rachel, Polavarapu, Kiran, Beeson, David, Cossins, Judith, Cruz, Pedro M. Rodriguez, Hackman, Peter, Johari, Mridul, Savarese, Marco, Udd, Bjarne, Capella, Gabriel, Valle, Laura, Holinski-Feder, Elke, Laner, Andreas, Steinke-Lange, Verena, Schröck, Evelin, Rump, Andreas, Solve-RD-DITF-RND, Solve-RD Consortium, Schule, R., Timmann, D., Erasmus, C. E., Reichbauer, J., Wayand, M., van de Warrenburg, B., Schols, L., Wilke, C., Bevot, A., Zuchner, S., Beltran, S., Laurie, S., Matalonga, L., Graessner, H., Synofzik, M., Nigro, V., Banfi, S., Torella, A., Piluso, G., Medicum, University of Helsinki, Department of Medical and Clinical Genetics, Klinische Genetica, RS: GROW - R4 - Reproductive and Perinatal Medicine, MUMC+: DA Klinische Genetica (5), Wilke, Carlo [0000-0002-7250-8597], Beltran, Sergi [0000-0002-2810-3445], Laurie, Steven [0000-0003-3913-5829], Graessner, Holm [0000-0001-9803-7183], Synofzik, Matthis [0000-0002-2280-7273], and Apollo - University of Cambridge Repository
- Subjects
genetics [Rare Diseases] ,lnfectious Diseases and Global Health Radboud Institute for Molecular Life Sciences [Radboudumc 4] ,Medizin ,Datasets as Topic ,0302 clinical medicine ,Tumours of the digestive tract Radboud Institute for Molecular Life Sciences [Radboudumc 14] ,Medicine ,Genetics (clinical) ,0303 health sciences ,methods [Genomics] ,Management science ,Neurodevelopmental disorders ,Neurodegenerative diseases ,030305 genetics & heredity ,1184 Genetics, developmental biology, physiology ,Metabolic Disorders Radboud Institute for Molecular Life Sciences [Radboudumc 6] ,Genomics ,Disorders of movement Donders Center for Medical Neuroscience [Radboudumc 3] ,genetics [Nervous System Diseases] ,3. Good health ,Chemistry ,Practice Guidelines as Topic ,Malalties rares ,pathology [Rare Diseases] ,methods [Genetic Testing] ,Movement disorders ,Other Research Donders Center for Medical Neuroscience [Radboudumc 0] ,Socio-culturale ,standards [Exome Sequencing] ,standards [Genetic Testing] ,pathology [Nervous System Diseases] ,03 medical and health sciences ,Rare Diseases ,Viewpoint ,Exome Sequencing ,Genetics ,Humans ,Genetic Testing ,ddc:610 ,Biology ,Neurodevelopmental disorders Donders Center for Medical Neuroscience [Radboudumc 7] ,business.industry ,Sistema nerviós -- Malalties ,methods [Exome Sequencing] ,standards [Genomics] ,3111 Biomedicine ,Human medicine ,Nervous System Diseases ,business ,Nanomedicine Radboud Institute for Molecular Life Sciences [Radboudumc 19] ,030217 neurology & neurosurgery - Abstract
Rare genetic neurological disorders (RND; ORPHA:71859) are a heterogeneous group of disorders comprising >1700 distinct genetic disease entities. However, genetic discoveries have not yet translated into dramatic increases of diagnostic yield and indeed rates of molecular genetic diagnoses have been stuck at about 30–50% across NGS modalities and RND phenotypes [1, 2]. Existence of yet unknown disease genes as well as shortcomings of commonly employed NGS technologies and analysis pipelines in detecting certain variant types are typically cited to explain the low diagnosis rates. To increase the diagnostic yield in RNDs - one of the four focus disease groups in Solve-RD - we follow two major approaches, that we will here present and exemplify: (i) systematic state-of the art re-analysis of large cohorts of unsolved whole-exome/genome sequencing (WES/WGS) RND datasets; and (ii) novel-omics approaches. Based on the way Solve-RD systematically organizes researchers’ expertise to channel this approach [3], the European Reference Network for Rare Neurological Diseases (ERN-RND) has established its own Data Interpretation Task Force (DITF) within SOLVE-RD, which is currently composed of clinical and genetic experts from 29 sites in 15 European countries. The Solve-RD project has received funding from the European Union’s Horizon 2020 research and innovation programme under Grant Agreement No. 779257. Data were analysed using the RD‐Connect Genome‐Phenome Analysis Platform, which received funding from EU projects RD‐Connect, Solve-RD and EJP-RD (Grant Numbers FP7 305444, H2020 779257, H2020 825575), Instituto de Salud Carlos III (Grant Numbers PT13/0001/0044, PT17/0009/0019; Instituto Nacional de Bioinformática, INB) and ELIXIR Implementation Studies. The study was further funded by the Federal Ministry of Education and Research, Germany, through the TreatHSP network (01GM1905 to RS and LS), the National Institute of Neurological Diseases and Stroke (R01NS072248 to SZ and RS), the European Joint Program on Rare Diseases-EJP-RD COFUND-EJP N° 825575 through funding for the PROSPAX consortium (441409627 to MS, RS and BvW). CW was supported by the PATE program of the Medical Faculty, University of Tübingen. CEE received support from the Dutch Princess Beatrix Muscle Fund and the Dutch Spieren voor Spieren Muscle fund. Authors on this paper are members of the European Reference Network for Rare Neurological Diseases (ERN-RND, Project ID 739510)
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- 2021
97. Wnt genes in colonic polyposis predisposition
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Quintana, Isabel, Terradas, Mariona, Mur, Pilar, te Paske, Iris B.A.W., Peters, Sophia, Spier, Isabel, Steinke-Lange, Verena, Maestro, Claudia, Torrents, David, Puiggròs, Montserrat, Royo, Romina, Tonda, Raul, Parra, Genís, Piscia, Davide, Beltrán, Sergi, Navarro, Matilde, Piñol, Virginia, Brunet, Joan, Gonzalez-Abuin, Noemi, Aiza, Gemma, Sommer, Anna, van Herwaarden, Yasmijn, Astuti, Galuh, Holinski-Feder, Elke, Hoogerbrugge, Nicoline, de Voer, Richarda M., Aretz, Stefan, Capellá, Gabriel, and Valle, Laura
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- 2023
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98. A novel germline POLE mutation causes an early onset cancer prone syndrome mimicking constitutional mismatch repair deficiency
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Wimmer, Katharina, Beilken, Andreas, Nustede, Rainer, Ripperger, Tim, Lamottke, Britta, Ure, Benno, Steinmann, Diana, Reineke-Plaass, Tanja, Lehmann, Ulrich, Zschocke, Johannes, Valle, Laura, Fauth, Christine, and Kratz, Christian P.
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- 2017
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99. Performance of public policies in the prevention of child obesity: an integrative review
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Silva, Chrisllayne Oliveira da, Castro, Andressa Silva de, Medeiros , Francielle Borba, Valle , Laura Maria Vieira Bezerra do, Machado, Ana Larissa Gomes, and Lima, Luisa Helena de Oliveira
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Primary Prevention ,Políticas Públicas ,Polítícas públicas ,Obesità infantile ,Obesidade infantil ,Ordine pubblico ,Prevenção Primária ,Prevenzione primaria ,Pediatric obesity ,Public Policy ,Prevención primaria ,Obesidad infantil - Abstract
A obesidade é uma doença grave que se caracteriza por aumento excessivo da gordura corporal. Atualmente, é considerada um dos principais problemas de saúde pública. O estudo tem como objetivo geral analisar na literatura científica como as políticas públicas contribuem para a prevenção da obesidade infantil. Trata-se de uma revisão integrativa da literatura (RI), com utilização de descritores e pesquisa nas bases de dados Cinahl, Pubmed, Scopus, com utilização do booleano “and”. Ao todo 13 estudos foram selecionados, destes nove (69,2) apresentavam abordagem quantitativa dos dados, a maioria dos artigos tinha como delineamento os estudos transversais (53,8%) e ensaio clínico randomizado (30,7%). O periódico com mais publicações foi o BMC Public Health (38,4%), a maioria dos estudos eram originários dos Estados Unidos (46,1%), e o inglês foi o idioma que prevaleceu (100%). Os estudos permitiriam ampliar os conhecimentos em relação as políticas públicas voltadas a obesidade infantil, que demonstraram importante resultados quanto a redução do IMC, mudanças dos hábitos alimentares e incentivo a prática de atividade física, entretanto para que sejam bem-sucedidas deve levar em conta a realidade local, os indicadores sociodemográficos, e a intensidade e duração da implementação dessas políticas. Obesity is a serious disease that stands out due to the excessive increase in body fat. Currently, it is considered one of the main public health problems. The study's general objective is to analyze in the scientific literature how public policies contribute to the prevention of childhood obesity. This is an integrative literature review (IR), using descriptors and searching the Cinahl, Pubmed, Scopus databases, using the Boolean “and”. A total of 13 studies were selected, of which nine (69.2) had a quantitative approach to data, most articles had cross-sectional studies (53.8%) and a randomized clinical trial (30.7%) as design. The journal with the most publications was BMC Public Health (38.4%), most studies were from the United States (46.1%), and English was the prevailing language (100%). The studies would allow for the expansion of knowledge in relation to public policies aimed at childhood obesity, which showed important results regarding the reduction of BMI, changes in eating habits and encouragement to practice physical activity, however, for them to be successful, it must take into account the local reality, sociodemographic indicators, and the intensity and duration of the implementation of these policies. La obesidad es una enfermedad grave caracterizada por un aumento excesivo de la grasa corporal. Actualmente, se considera uno de los principales problemas de salud pública. El objetivo general del estudio es analizar en la literatura científica cómo las políticas públicas contribuyen a la prevención de la obesidad infantil. Se trata de una revisión integrativa de la literatura (RI), utilizando descriptores y buscando en las bases de datos Cinahl, Pubmed, Scopus, utilizando el booleano “y”. Se seleccionaron un total de 13 estudios, de los cuales nueve (69,2) tenían un enfoque cuantitativo de los datos, la mayoría de los artículos tenían como diseños estudios transversales (53,8%) y ensayos clínicos aleatorizados (30,7%). La revista con más publicaciones fue BMC Public Health (38,4%), la mayoría de los estudios fueron de Estados Unidos (46,1%) y el inglés fue el idioma que predominó (100%). Los estudios permitirían ampliar el conocimiento sobre las políticas públicas dirigidas a la obesidad infantil, las cuales han mostrado importantes resultados en cuanto a la reducción del IMC, cambio de hábitos alimentarios y fomento a la práctica de actividad física, sin embargo, para que sean exitosas se debe tomar en cuenta la realidad local, indicadores sociodemográficos, y la intensidad y duración de la implementación de estas políticas. A obesidade é uma doença grave que se caracteriza por aumento excessivo da gordura corporal. Atualmente, é considerada um dos principais problemas de saúde pública. O estudo tem como objetivo geral analisar na literatura científica como as políticas públicas contribuem para a prevenção da obesidade infantil. Trata-se de uma revisão integrativa da literatura (RI), com utilização de descritores e pesquisa nas bases de dados Cinahl, Pubmed, Scopus, com utilização do booleano “and”. Ao todo 13 estudos foram selecionados, destes nove (69,2) apresentavam abordagem quantitativa dos dados, a maioria dos artigos tinha como delineamento os estudos transversais (53,8%) e ensaio clínico randomizado (30,7%). O periódico com mais publicações foi o BMC Public Health (38,4%), a maioria dos estudos eram originários dos Estados Unidos (46,1%), e o inglês foi o idioma que prevaleceu (100%). Os estudos permitiriam ampliar os conhecimentos em relação as políticas públicas voltadas a obesidade infantil, que demonstraram importante resultados quanto a redução do IMC, mudanças dos hábitos alimentares e incentivo a prática de atividade física, entretanto para que sejam bem-sucedidas deve levar em conta a realidade local, os indicadores sociodemográficos, e a intensidade e duração da implementação dessas políticas. L'obesità è una grave malattia caratterizzata da un eccessivo aumento del grasso corporeo. Attualmente, è considerato uno dei principali problemi di salute pubblica. L'obiettivo generale dello studio è quello di analizzare nella letteratura scientifica come le politiche pubbliche contribuiscano alla prevenzione dell'obesità infantile. Questa è una revisione integrativa della letteratura (IR), utilizzando descrittori e ricercando i database Cinahl, Pubmed, Scopus, utilizzando il booleano "e". Sono stati selezionati un totale di 13 studi, di cui nove (69,2) avevano un approccio quantitativo ai dati, la maggior parte degli articoli aveva studi trasversali (53,8%) e studi clinici randomizzati (30,7%) come disegni. La rivista con il maggior numero di pubblicazioni è stata BMC Public Health (38,4%), la maggior parte degli studi sono stati dagli Stati Uniti (46,1%) e l'inglese è stata la lingua che ha prevalso (100%). Gli studi consentirebbero di ampliare le conoscenze sulle politiche pubbliche rivolte all'obesità infantile, che hanno mostrato importanti risultati in termini di riduzione del BMI, modifica delle abitudini alimentari e incentivazione alla pratica dell'attività fisica, tuttavia, per avere successo, deve tener conto della realtà locale, indicatori sociodemografici, intensità e durata dell'attuazione di queste politiche.
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- 2022
100. Extended family with an inherited pathogenic variant in polymerase delta provides strong evidence for recessive effect of proofreading deficiency in human cells
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Andrianova, Maria A., primary, Seplyarskiy, Vladimir B., additional, Terradas, Mariona, additional, Sánchez-Heras, Ana Beatriz, additional, Mur, Pilar, additional, Soto, José Luis, additional, Aiza, Gemma, additional, Kondrashov, Fyodor A., additional, Kondrashov, Alexey S., additional, Bazykin, Georgii A., additional, and Valle, Laura, additional
- Published
- 2022
- Full Text
- View/download PDF
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