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1 : On the role of FAN1 in Fanconi anemia.
HighWire
Trujillo, Juan P; Mina, Leonardo B; Pujol, Roser; Bogliolo, Massimo; Andrieux, Joris; Holder, Muriel; Schuster, Beatrice; Schindler, Detlev; Surralles, Jordi;
Genome Instability and DNA Repair Group, Department of Genetics and Microbiology, Universitat Autonoma de Barcelona, Bellaterra, Barcelona, Spain.
Blood. 2012 Jul 5; 120(1): 86-9.
2 : Disease-corrected haematopoietic progenitors from Fanconi anaemia induced pluripotent stem cells. Buscar   Buscar  
Raya A., Rodriguez-Piza I., Guenechea G., Vassena R., Navarro S., Barrero M.J., Consiglio A., Castella M., Rio P., Sleep E., Gonzalez F., Tiscornia G., Garreta E., Aasen T., Veiga A., Verma I.M., Surralles J., Bueren J., Izpisua B.
Center for Regenerative Medicine in Barcelona, Dr. Aiguader 88, 08003 Barcelona, Spain.
Nature. 2009 Jul 2;460(7251):53-9. doi: 10.1038/nature08129. Epub 2009 May 31.
3 : Constitutive activation of caspase-3 and Poly ADP ribose polymerase cleavage in fanconi anemia cells.
HighWire
Lyakhovich A., Surralles J.
Department of Genetics and Microbiology, Universitat Autonoma de Barcelona, 08193 Bellaterra, Barcelona, Spain.
Mol Cancer Res. 2010 Jan;8(1):46-56. doi: 10.1158/1541-7786.MCR-09-0373. Epub 2010 Jan 12.
4 : Exploring the link between MORF4L1 and risk of breast cancer.
BMC
Martrat, Griselda; Maxwell, Christopher M; Tominaga, Emiko; Porta-de-la-Riva, Montserrat; Bonifaci, Nuria; Gomez-Baldo, Laia; Bogliolo, Massimo; Lazaro, Conxi; Blanco, Ignacio; Brunet, Joan; Aguilar, Helena; Fernandez-Rodriguez, Juana; Seal, Sheila; Renwick, Anthony; Rahman, Nazneen; Kuhl, Julia; Neveling, Kornelia; Schindler, Detlev; Ramirez, Maria J; Castella, Maria; Hernandez, Gonzalo; Easton, Douglas F; Peock, Susan; Cook, Margaret; Oliver, Clare T; Frost, Debra; Platte, Radka; Evans, D Gareth; Lalloo, Fiona; Eeles, Rosalind; Izatt, Louise; Chu, Carol; Davidson, Rosemarie; Ong, Kai-Ren; Cook, Jackie; Douglas, Fiona; Hodgson, Shirley; Brewer, Carole; Morrison, Patrick J; Porteous, Mary; Peterlongo, Paolo; Manoukian, Siranoush; Peissel, Bernard; Zaffaroni, Daniela; Roversi, Gaia; Barile, Monica; Viel, Alessandra; Pasini, Barbara; Ottini, Laura; Putignano, Anna Laura; Savarese, Antonella; Bernard, Loris; Radice, Paolo; Healey, Sue; Spurdle, Amanda; Chen, Xiaoqing; Beesley, Jonathan; Rookus, Matti A; Verhoef, Senno; Tilanus-Linthorst, Madeleine A; Vreeswijk, Maaike P; Asperen, Christi J; Bodmer, Danielle; Ausems, Margreet G E M; van Os, Theo A; Blok, Marinus J; Meijers-Heijboer, Hanne E J; Hogervorst, Frans B L; Goldgar, David E; Buys, Saundra; John, Esther M; Miron, Alexander; Southey, Melissa; Daly, Mary B; Harbst, Katja; Borg, Ake; Rantala, Johanna; Barbany-Bustinza, Gisela; Ehrencrona, Hans; Stenmark-Askmalm, Marie; Kaufman, Bella; Laitman, Yael; Milgrom, Roni; Friedman, Eitan; Domchek, Susan M; Nathanson, Katherine L; Rebbeck, Timothy R; Johannsson, Oskar Thor; Couch, Fergus J; Wang, Xianshu; Fredericksen, Zachary; Cuadras, Daniel; Moreno, Victor; Pientka, Friederike K; Depping, Reinhard; Caldes, Trinidad; Osorio, Ana; Benitez, Javier; Bueren, Juan; Heikkinen, Tuomas; Nevanlinna, Heli; Hamann, Ute; Torres, Diana; Caligo, Maria Adelaide; Godwin, Andrew K; Imyanitov, Evgeny N; Janavicius, Ramunas; Sinilnikova, Olga M; Stoppa-Lyonnet, Dominique; Mazoyer, Sylvie; Verny-Pierre, Carole; Castera, Laurent; de Pauw, Antoine; Bignon, Yves-Jean; Uhrhammer, Nancy; Peyrat, Jean-Philippe; Vennin, Philippe; Ferrer, Sandra Fert; Collonge-Rame, Marie-Agnes; Mortemousque, Isabelle; McGuffog, Lesley; Chenevix-Trench, Georgia; Pereira-Smith, Olivia M; Antoniou, Antonis C; Ceron, Julian; Tominaga, Kaoru; Surralles, Jordi; Pujana, Miguel Angel;
Translational Research Laboratory, Catalan Institute of Oncology, Bellvitge Institute for Biomedical Research (IDIBELL), Gran Via 199, L'Hospitalet del Llobregat 08908, Spain.
Breast Cancer Res. 2011; 13(2): R40.
5 : Epidemiology of rare anaemias in Europe. Buscar   Buscar  
Gulbis B., Eleftheriou A., Angastiniotis M., Ball S., Surralles J., Castella M., Heimpel H., Hill A., Corrons J.L.
Universite Libre de Bruxelles, Bruxelles, Belgium. bgulbis@ulb.ac.be
Adv Exp Med Biol. 2010;686:375-96. doi: 10.1007/978-90-481-9485-8_22.
6 : Dysfunctional telomeres in primary cells from Fanconi anemia FANCD2 patients.
UKPMC
Joksic, Ivana; Vujic, Dragana; Guc-Scekic, Marija; Leskovac, Andreja; Petrovic, Sandra; Ojani, Maryam; Trujillo, Juan P; Surralles, Jordi; Zivkovic, Maja; Stankovic, Aleksandra; Slijepcevic, Predrag; Joksic, Gordana;
Vinca Institute of Nuclear Sciences, University of Belgrade, Belgrade, Serbia. predrag.slijepcevic@brunel.ac.uk.
Genome Integr. 2012; 3(1): 6.
7 : Targeted gene therapy and cell reprogramming in Fanconi anemia.
HighWire
Rio P., Banos R., Lombardo A., Quintana-Bustamante O., Alvarez L., Garate Z., Genovese P., Almarza E., Valeri A., Diez B., Navarro S., Torres Y., Trujillo J.P., Murillas R., Segovia J.C., Samper E., Surralles J., Gregory P.D., Holmes M.C., Naldini L., Bueren J.A.
Division of Hematopoietic Innovative Therapies, CIEMAT/CIBERER, Madrid, Spain Instituto de Investigacion Sanitaria Fundacion Jimenez Diaz (IIS-FJD, UAM), Madrid, Spain juan.bueren@ciemat.es naldini.luigi@hsr.it.
EMBO Mol Med. 2014 May 23;6(6):835-48. doi: 10.15252/emmm.201303374.
8 : Chromosome fragility in patients with Fanconi anaemia: diagnostic implications and clinical impact. Buscar   Buscar  
Castella M., Pujol R., Callen E., Ramirez M.J., Casado J.A., Talavera M., Ferro T., Munoz A., Sevilla J., Madero L., Cela E., Belendez C., de H., Olive T., de T., Badell I., Estella J., Dasi A., Rodriguez-Villa A., Gomez P., Tapia M., Molines A., Figuera A., Bueren J.A., Surralles J.
Genome Instability and DNA Repair Group, Department of Genetics and Microbiology, Universitat Autonoma de Barcelona, and Pediatric Haemato-Oncology Service, Hospital Materno-Infantil Vall d'Hebron, Barcelona, Spain.
J Med Genet. 2011 Apr;48(4):242-50. doi: 10.1136/jmg.2010.084210. Epub 2011 Jan 7.
9 : Clinical and molecular characteristics of squamous cell carcinomas from Fanconi anemia patients.
HighWire
van Z., Snijders P.J., Wu T., Gluckman E., Soulier J., Surralles J., Castella M., van , Wennerberg J., Califano J., Velleuer E., Dietrich R., Ebell W., Bloemena E., Joenje H., Leemans C.R., Brakenhoff R.H.
Department of Otolaryngology/Head-Neck Surgery, Section Tumor Biology, VU University Medical Center, Amsterdam, the Netherlands.
J Natl Cancer Inst. 2008 Nov 19;100(22):1649-53. doi: 10.1093/jnci/djn366. Epub 2008 Nov 11.
10 : Telomere length analysis in Cushing's syndrome. Buscar   Buscar  
Aulinas A., Ramirez M.J., Barahona M.J., Valassi E., Resmini E., Mato E., Santos A., Crespo I., Bell O., Surralles J., Webb S.M.
Endocrinology/Medicine DepartmentsSant Pau Biomedical Research Institute, Hospital de Sant Pau, Universitat Autonoma de Barcelona, Servei d'Endocrinologia, C/Sant Antoni Maria Claret, 167, 08025 Barcelona, SpainDepartment of Genetics and MicrobiologyCente
Eur J Endocrinol. 2014 Jul;171(1):21-9. doi: 10.1530/EJE-14-0098. Epub 2014 Apr 17.
11 : Bcr/Abl interferes with the Fanconi anemia/BRCA pathway: implications in the chromosomal instability of chronic myeloid leukemia cells.
PLoS
Valeri, Antonio; Alonso-Ferrero, Maria Eugenia; Rio, Paula; Pujol, Maria Roser; Casado, Jose A; Perez, Laura; Jacome, Ariana; Agirre, Xabier; Calasanz, Maria Jose; Hanenberg, Helmut; Surralles, Jordi; Prosper, Felipe; Albella, Beatriz; Bueren, Juan A;
Centro de Investigaciones Energeticas, Medioambientales y Tecnologicas and Centro de Investigacion Biomedica en Red de Enfermedades Raras, Madrid, Spain.
PLoS One. 2010; 5(12): e15525.
12 : Telomeres and endocrine dysfunction of the adrenal and GH/IGF-1 axes. Buscar   Buscar  
Aulinas A., Ramirez M.J., Barahona M.J., Mato E., Bell O., Surralles J., Webb S.M.
Biomedical Research Institute Sant Pau (IIB Sant Pau), Endocrinology/Medicine Departments, Hospital de Sant Pau, Universitat Autonoma de Barcelona, Barcelona, Spain.
Clin Endocrinol (Oxf). 2013 Dec;79(6):751-9. doi: 10.1111/cen.12310. Epub 2013 Sep 4.
13 : Savior siblings and Fanconi anemia: analysis of success rates from the family's perspective. Buscar   Buscar  
Trujillo J.P., Surralles J.
1] Department of Genetics and Microbiology, Genome Instability and DNA Repair Group, Universitat Autonoma de Barcelona (UAB), Barcelona, Spain [2] Centre for Biomedical Network Research on Rare Diseases (CIBERER), Madrid, Spain.
Genet Med. 2015 Feb 12. doi: 10.1038/gim.2014.206.
14 : Origin, functional role, and clinical impact of Fanconi anemia FANCA mutations.
HighWire
Castella, Maria; Pujol, Roser; Callen, Elsa; Trujillo, Juan P; Casado, Jose A; Gille, Hans; Lach, Francis P; Auerbach, Arleen D; Schindler, Detlev; Benitez, Javier; Porto, Beatriz; Ferro, Teresa; Munoz, Arturo; Sevilla, Julian; Madero, Luis; Cela, Elena; Belendez, Cristina; de Heredia, Cristina Diaz; Olive, Teresa; de Toledo, Jose Sanchez; Badell, Isabel; Torrent, Montserrat; Estella, Jesus; Dasi, Angeles; Rodriguez-Villa, Antonia; Gomez, Pedro; Barbot, Jose; Tapia, Maria; Molines, Antonio; Figuera, Angela; Bueren, Juan A; Surralles, Jordi;
Genome Instability and DNA Repair Group, Department of Genetics and Microbiology, Universitat Autonoma de Barcelona, Campus de Bellaterra s/n, Barcelona, Spain.
Blood. 2011 Apr 7; 117(14): 3759-69.
15 : Modelling Fanconi anemia pathogenesis and therapeutics using integration-free patient-derived iPSCs. Buscar   Buscar  
Liu, Guang-Hui; Suzuki, Keiichiro; Li, Mo; Qu, Jing; Montserrat, Nuria; Tarantino, Carolina; Gu, Ying; Yi, Fei; Xu, Xiuling; Zhang, Weiqi; Ruiz, Sergio; Plongthongkum, Nongluk; Zhang, Kun; Masuda, Shigeo; Nivet, Emmanuel; Tsunekawa, Yuji; Soligalla, Rupa Devi; Goebl, April; Aizawa, Emi; Kim, Na Young; Kim, Jessica; Dubova, Ilir; Li, Ying; Ren, Ruotong; Benner, Chris; Del Sol, Antonio; Bueren, Juan; Trujillo, Juan Pablo; Surralles, Jordi; Cappelli, Enrico; Dufour, Carlo; Esteban, Concepcion Rodriguez; Izpisua Belmonte, Juan Carlos;
Gene Expression Laboratory, Salk Institute for Biological Studies, 10010 North Torrey Pines Road, La Jolla, California 92037, USA.
Nat Commun. 2014; 54330.
16 : Coordinated action of the Fanconi anemia and ataxia telangiectasia pathways in response to oxidative damage. Buscar   Buscar  
Castillo P., Bogliolo M., Surralles J.
Genome Instability and DNA Repair Group, Department of Genetics and Microbiology, Universitat Autonoma de Barcelona, Spain.
DNA Repair (Amst). 2011 May 5;10(5):518-25. doi: 10.1016/j.dnarep.2011.02.007. Epub 2011 Apr 5.
17 : Fanconi anemia protein FANCD2 inhibits TRF1 polyADP-ribosylation through tankyrase1-dependent manner.
UKPMC
Lyakhovich A., Ramirez M.J., Castellanos A., Castella M., Simons A.M., Parvin J.D., Surralles J.
Department of Genetics and Microbiology, Universitat Autonoma de Barcelona, Edifici C, Bellaterra, Barcelona 08193, Spain. jordi.surralles@uab.es.
Genome Integr. 2011 Feb 12;2(1):4. doi: 10.1186/2041-9414-2-4.
18 : Dyslipidemia and Chronic Inflammation Markers Are Correlated with Telomere Length Shortening in Cushing's Syndrome.
PLoS
Aulinas A., Ramirez M.J., Barahona M.J., Valassi E., Resmini E., Mato E., Santos A., Crespo I., Bell O., Surralles J., Webb S.M.
Sant Pau Biomedical Research Institute, Endocrinology/Medicine Departments, Hospital de Sant Pau, Universitat Autonoma de Barcelona, Barcelona, Spain; Center for Biomedical Network Research on Rare Diseases (CIBERER Unit 747), ISCIII, Barcelona, Spain.
PLoS One. 2015 Mar 23;10(3):e0120185. doi: 10.1371/journal.pone.0120185. eCollection 2015.
19 : Mutations in ERCC4, encoding the DNA-repair endonuclease XPF, cause Fanconi anemia.
ES
Bogliolo, Massimo; Schuster, Beatrice; Stoepker, Chantal; Derkunt, Burak; Su, Yan; Raams, Anja; Trujillo, Juan P; Minguillon, Jordi; Ramirez, Maria J; Pujol, Roser; Casado, Jose A; Banos, Rocio; Rio, Paula; Knies, Kerstin; Zuniga, Sheila; Benitez, Javier; Bueren, Juan A; Jaspers, Nicolaas G J; Scharer, Orlando D; de Winter, Johan P; Schindler, Detlev; Surralles, Jordi;
Genome Instability and DNA Repair Group, Department of Genetics and Microbiology, Universitat Autonoma de Barcelona, Bellaterra, 08193 Barcelona, Spain.
Am J Hum Genet. 2013 May 2; 92(5): 800-6.
20 : Evaluation of rare variants in the new fanconi anemia gene ERCC4 (FANCQ) as familial breast/ovarian cancer susceptibility alleles. Buscar   Buscar  
Osorio A., Bogliolo M., Fernandez V., Barroso A., de , Caldes T., Lasa A., Ramon , Santamarina M., Vega A., Quiles F., Lazaro C., Diez O., Fernandez D., Gonzalez-Sarmiento R., Duran M., Piqueras J.F., Marin M., Pujol R., Surralles J., Benitez J.
Human Genetics Group, Human Cancer Genetics Programme, Spanish National Cancer Research Centre, CNIO, Madrid, Spain; Centre for Biomedical Network Research on Rare Diseases (CIBERER), Spain.
Hum Mutat. 2013 Dec;34(12):1615-8. doi: 10.1002/humu.22438. Epub 2013 Oct 7.

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