Browsing by Subject Genetic disorders
Showing results 1 to 17 of 17
| Issue Date | Title | Author(s) |
|---|---|---|
| 20-Aug-2021 | Biallelic PI4KA variants cause a novel neurodevelopmental syndrome with hypomyelinating leukodystrophy | Verdura, Edgard; Rodríguez Palmero, Agustí; Vélez Santamaría, Valentina; Planas Serra, Laura; Calle, Irene de la; Raspall Chaure, Miquel; Roubertie, Agathe; Benkirane, Mehdi; Saettini, Francesco; Pavinato, Lisa; Mandrile, Giorgia; O’leary, Melanie; O’heir, Emily; Barredo, Estibaliz; Chacón, Almudena; Michaud, Vincent; Goizet, Cyril; Ruiz, Montserrat; Schlüter, Agatha; Rouvet, Isabelle; Sala Coromina, Júlia; Fossati, Chiara; Iascone, Maria; Canonico, Francesco; Marcé Grau, Anna; Souza, Precilla de; Adams, David; Casasnovas Pons, Carlos; Rehm, Heidi L.; Mefford, Heather C.; González Gutiérrez-Solana, Luis; Brusco, Alfredo; Koenig, Michel; Macaya, Alfons; Pujol, Aurora, 1968- |
| 23-Jun-2021 | Clinical, Molecular and Genetic Characteristics of Early Onset Gastric Cancer: Analysis of a Large Multicenter Study | Pocurull, Anna; Herrera Pariente, Cristina; Carballal, Sabela; Llach Roca, Joan; Sánchez, Ariadna; Carot, Laura; Botargues, Josep Maria; Cuatrecasas Freixas, Miriam; Ocaña, Teresa; Balaguer, Francesc; Bujanda, Luis; Moreira Ruiz, Leticia |
| Jul-2010 | Current and Future Pharmacological Treatment Strategies in X-linked Adrenoleukodystrophy | Berger, Johannes; Pujol Onofre, Aurora; Aubourg, Patrick; Forss-Petter, Sonja |
| 25-Aug-2021 | Current gene panels account for nearly all homologous recombination repair-associated multiple-case breast cancer families | Matis, Thibaut S.; Zayed, Nadia; Labraki, Bouchra; Ladurantaye, Manon de; Matis, Théophane A.; Camacho Valenzuela, José; Hamel, Nancy; Atayan, Adrienne; Rivera, Barbara; Tabach, Yuval; Tonin, Patricia N.; Orthwein, Alexandre; Mes Masson, Anne-Marie; El Haffaf, Zaki; Foulkes, William D.; Polak, Paz |
| 3-Jul-2020 | Diamond Blackfan anemia is mediated by hyperactive Nemo-like kinase | Wilkes, Mark C.; Siva, Kavitha; Chen, Jun; Varetti, G.; Youn, M. Y.; Chae, H.; Olsson, R.; Lundbäck, T.; Dever, D. P.; Nishimura, T.; Narla, A.; Glader, B.; Nakauchi, H.; Porteus, M. H.; Repellin, C. E.; Gazda, H. T.; Lin, S.; Serrano Marugán, Manuel; Flygare, J.; Sakamoto, K. M. |
| 1-Dec-2020 | Evaluation of CNV detection tools for NGS panel data in genetic diagnostics | Moreno Cabrera, José Marcos; Valle Domínguez, Jesús del; Castellanos, Elisabeth; Feliubadaló i Elorza, Maria Lídia; Pineda Riu, Marta; Brunet, Joan; Serra Arenas, Eduard,; Capellá, G. (Gabriel); Lázaro García, Conxi; Gel Moreno, Bernat |
| 1-Nov-2020 | Hereditary Leiomyomatosis and Renal Cell Cancer Syndrome in Spain: Clinical and Genetic Characterization | Sánchez Heras, Ana Beatriz; Castillejo, Adela; García Díaz, Juan de Dios; Robledo, Mercedes; Teulé-Vega, Àlex; Sánchez, Rosario; Zúñiga, Ángel; Lastra, Enrique; Durán, Mercedes; Llort, Gemma; Yagüe, Carmen; Ramón y Cajal, Teresa; López San Martín, Consol; López Fernández, Adrià; Balmaña, Judith; Robles, Luis; Mesa Latorre, José M.; Chirivella González, Isabel; Fonfria, María; Perea Ibañez, Raquel; Castillejo, M. Isabel; Escandell, Inés; Gomez, Luis; Berbel, Pere; Soto, Jose Luis |
| 14-Nov-2015 | Imprinting disorders: a group of congenital disorders with overlapping patterns of molecular changes affecting imprinted loci | Eggermann, Thomas; Perez de Nanclares, Guiomar; Maher, Eamonn R.; Temple, I. Karen; Tümer, Zeynep; Monk, Dave Nicholas; Mackay, Deborah J. G.; Grønskov, Karen; Riccio, Andrea; Linglart, Agnès; Netchine, Irène |
| 1-Jan-2019 | Loss of the sphingolipid desaturase DEGS1 causes hypomyelinating leukodystrophy | Pant, Devesh C.; Dorboz, Imen; Schlüter, Agatha; Fourcade, Stéphane; Launay, Nathalie; Joya, Javier; Aguilera Albesa, Sergio; Yoldi, María Eugenia; Casasnovas Pons, Carlos; Willis, Mary J.; Ruiz, Montserrat; Ville, Dorothée; Lesca, Gaetan; Siquier Pernet, Karine; Desguerre, Isabelle; Yan, Huifang; Wang, Jingmin; Burmeister, Margit; Brady, Lauren; Tarnopolsky, Mark; Cornet, Carles; Rubbini, Davide; Terriente, Javier; James, Kiely N.; Musaev, Damir; Zaki, Maha S.; Patterson, Marc C.; Lanpher, Brendan C.; Klee, Eric W.; Pinto e Vairo, Filippo; Wohler, Elizabeth; Sobreira, Nara Lygia de M.; Cohen, Julie S.; Maroofian, Reza; Galehdari, Hamid; Mazaheri, Neda; Shariati, Gholamrez; Colleaux, Laurence; Rodriguez, Diana; Gleeson, Joseph G.; Pujades, Cristina; Fatemi, Ali; Boespflug‐Tanguy, Odile; Pujol Onofre, Aurora |
| 9-Mar-2016 | Meta-analysis of genome-wide association studies discovers multiple loci for chronic lymphocytic leukemia | Berndt, Sonja I.; Camp, Nicola J.; Skibola, Christine F.; Vijai, Joseph; Wang, Zhaoming; Gu, Jian; Nieters, Alexandra; Kelly, Rachel S.; Smedby, Karin E.; Monnereau, Alain; Cozen, Wendy; North, Kari E.; Liang, Liming; Cox, Angela; Crouch, Simon; Park, Ju-Hyun; Chatterjee, Nilanjan; Zhang, Yawei; Snowden, John A.; Wright, Josh; Fraumeni, Joseph F.; Montalvan, Rebecca; Rothman, Nathaniel; Offit, Kenneth; Cocco, Pierluigi; Sanjosé Llongueras, Silvia de; Cerhan, James R.; Chanock, Stephen J.; Novak, Anne J.; Slager, Susan L.; Lan, Qing; Teras, Lauren R.; Birmann, Brenda M.; Machado, Moara; Shanafelt, Tait D.; Brooks-Wilson, Angela R.; Hartge, Patricia; Purdue, Mark P.; Chang, Ellen T.; Vajdic, Claire M.; Giles, Graham G.; Zeleniuch-Jacquotte, Anne; Lawrence, Charles; Conde, Lucía; Burdett, Laurie; Hutchinson, Amy; Ye, Yuanqing; Zhi, Degui; Allmer, Cristine; Call, Timothy G.; Weiner, George J.; Kay, Neil E.; Liebow, Mark; Cunningham, Julie M.; Sala Serra, Núria; Hjalgrim, Henrik; Adami, Hans-Olov; Melbye, Mads; Diver, W. Ryan; Glimelius, Bengt; Benavente, Yolanda; Glenn, Martha; Curtin, Karen; Cannon-Albright, Lisa A.; Chaffee, Kari G.; Link, Brian K.; Bracci, Paige M.; Riby, Jacques; Arnett, Donna K.; Caporaso, Neil E.; Leach, Justin M.; Holly, Elizabeth A.; Jackson, Rebecca D. J.; Severson, Richard K.; Brennan, Paul; Tinker, Lesley F.; Weinberg, J. Brice; Casabonne, Delphine; Becker, Nikolaus; Boffetta, Paolo; Chirlaque, María Dolores; Foretova, Lenka; Maynadié, Marc; McKay, James D.; Strom, Sara S.; Staines, Anthony; Weiderpass, Elisabete; Achenbach, Sara J.; Vachon, Celine M.; Goldin, Lynn R.; Zheng, Tongzhang; Leis, Jose F.; Norman, Aaron D.; Roos, Anneclaire J. De; Morton, Lindsay M.; Bertrand, Kimberly A.; Riboli, Elio; Vineis, Paolo; Kaaks, Rudolf; Turner, Jenny; Milne, Roger L.; Masala, Giovanna; Connors, Joseph M.; Vermeulen, Roel C. H.; Travis, Ruth C.; Southey, Melissa C.; Huang, Jinyan; Albanes, Demetrius; Virtamo, Jarmo; Weinstein, Stephanie J.; Spinelli, John J.; Clavel, Jacqueline; Ma, Baoshan; Holford, Theodore R.; Villano, Danylo J.; Maria, Ann; Wu, Xifeng; Gascoyne, Randy D.; Giovannucci, Edward L.; Kraft, Peter; Kricker, Anne; Wang, Sophia S.; Ennas, Maria Grazia; Ferri, Giovanni M.; Miligi, Lucia; Yeager, Meredith |
| Dec-2015 | Modeling of autosomal-dominant retinitis pigmentosa in Caenorhabditis elegans uncovers a nexus between global impaired functioning of certain splicing factors and cell type-specific apoptosis | Rubio Peña, Karinna; Fontrodona, Laura; Aristizábal Corrales, David; Torres, Silvia; Cornes, Eric; García Rodríguez, Francisco J.; Serrat, Xènia; González-Knowles, David; Foissac, Sylvain; Porta de la Riva, Montserrat; Cerón Madrigal, Julián |
| 31-Jul-2021 | Non-Lynch Familial and Early-Onset Colorectal Cancer Explained by Accumulation of Low-Risk Genetic Variants | Mur, Pilar; Bonifaci, Núria; Díez Villanueva, Anna; Munté, Elisabet; Alonso Aguado, Maria Henar; Obón Santacana, Mireia; Aiza, Gemma; Navarro García, Matilde; Piñol, Virginia; Brunet, Joan; Tomlinson, Ian; Capellá, G. (Gabriel); Moreno Aguado, Víctor; Valle, Laura |
| 1-Apr-2020 | POLR3A variants with striatal involvement and extrapyramidal movement disorder | Harting, Inga; Al-Saady, Murtadha; Krägeloh-Mann, Ingeborg; Bley, Annette; Hempel, Maja; Bierhals, Tatjana; Karch, Stephanie; Moog, Ute; Bernard, Geneviève; Huntsman, Richard; van Spaendonk, Rosalina M. L.; Vreeburg, Maaike; Rodríguez Palmero, Agustí; Pujol Onofre, Aurora; van der Knaap, Marjo S.; Pouwels, Petra J. W.; Wolf, Nicole I. |
| 1-Jul-2020 | Risk-reducing gynecological surgery in Lynch syndrome: results of an international survey from the prospective Lynch syndrome database | Dominguez Valentin, Mev; Seppälä, Toni T.; Engel, Christoph; Aretz, Stefan; Macrae, Finlay; Winship, Ingrid; Capellá, G. (Gabriel); Thomas, Huw; 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 Riu, Marta; Navarro, Matilde; Brunet, Joan; Kariv, Revital; Rosner, Guy; Piñero, Tamara Alejandra; Gonzalez, María Laura; Kalfayan, Pablo; Sampson, Julian R.; Ryan, Neil A. J.; Evans, D. Gareth; Møller, Pål; Crosbie, Emma J. |
| 1-Apr-2020 | Structural basis for the dominant or recessive character of GLIALCAM mutations found in leukodystrophies | Elorza Vidal, Xabier; Xicoy Espaulella, Efren; Pla Casillanis, Adrià; Alonso Gardón, Marta; Gaitán-Peñas, Héctor; Engel Pizcueta, Carolyn; Fernández Recio, Juan; Estévez Povedano, Raúl |
| 12-Jul-2016 | Uniparental disomy of chromosome 16 unmasks recessive mutations of FA2H/SPG35 in 4 families | Soehn, Anne S.; Rattay, Tim W.; Beck-Wödl, Stefanie; Schäferhoff, Karin; Monk, Dave Nicholas; Döbler-Neumann, Marion; Hörtnagel, Konstanze; Schlüter, Agatha; Ruiz, Montserrat; Pujol Onofre, Aurora; Züchner, Stephan; Riess, Olaf; Schüle, Rebecca; Bauer, Peter; Schöls, Ludger |
| 1-Oct-2019 | Update on genetic predisposition to colorectal cancer and polyposis | Valle Velasco, Laura; de Voer, Richarda M.; Goldberg, Yael; Sjursen, Wenche; Försti, Asta; Ruiz Ponte, Clara; Caldés, Trinidad; Garre, Pilar; Olsen, Maren F.; Nordling, Margareta; Castellví Bel, Sergi; Hemminki, Kari |