About the VHIR
Here at the Vall d'Hebron Research Institute (VHIR) we promote biomedical research, innovation and teaching. Over 1,800 people are seeking to understand diseases today so the treatment can be improved tomorrow.
Research
We are working to understand diseases, to find out how they operate and to create better treatments for patients. Get to know about our groups and their lines of research.
People
People are the centre of the Vall d'Hebron Research Institute (VHIR). This is why we are bound by the principles of freedom of research, gender equality and professional attitudes that HRS4R promotes.
Clinical trials
Our work is not just basic or translational; we are leaders in clinical research. Enter and find about the clinical trials we are conducting and why we are a world reference in this field.
Progress
Our aim is to make the research carried out at the Vall d’Hebron Research Institute (VHIR) a driving force for transformation. How? By identifying new channels and solutions for the promotion of people's health and well-being.
Core facilities
We offer specialist support for researchers, internal and external alike, ranging from specific services to preparing complete projects. All this, from a perspective of quality and speed of response.
News
We offer you a gateway for staying up to date on everything going on at the Vall d’Hebron Research Institute (VHIR), from the latest news to future solidarity activities and initiatives that we are organising.
The Genetics Medicine group of the VHIR belongs to the Clinical and Molecular Genetic Area of the Hospital Vall d’Hebron and combines genetic diagnosis and translational research in hereditary diseases and the study of pathologies and malformations during human development.
The group actively works in different consortiums and networks for rare disorders including ERN Ithaca, Cranio, Bond and NMD.
Specific research lines and teams include:
IP: -
IP: Eduardo Fidel Tizzano Collaborators: - Funding agency: asociación GaliciAME Funding: 12000 Reference: GALICIAME/TIZZANO/2023 Duration: 22/01/2024 - 22/07/2024
IP: Alberto Plaja Rustein Collaborators: Anna Maria Cueto Gonzalez Funding agency: Instituto de Salud Carlos III Funding: Reference: PMP22/00088 Duration: 01/01/2023 - 31/12/2025
IP: Roger Colobran Oriol Collaborators: Romina Dieli Crimi, Aina Aguiló Cucurull, Laura Batlle Masó, Andrea Martín Nalda, Neus Castells Sarret Funding agency: Instituto de Salud Carlos III Funding: 208750 Reference: PI23/00161 Duration: 01/01/2024 - 31/12/2026
IP: Alfons Macaya Ruíz Collaborators: Laia Ventura i Expósito, Belen Perez Dueñas, Laura Costa Comellas, Ainara Salazar Villacorta, Francina Munell Casadesus, Miquel Raspall Chaure, Mireia del Toro Riera, Julia Sala Coromina, Ana Felipe Rucián, Ana Laura Cazurro Gutierrez, David Gómez Andrés, Amaia Lasa Aranzasti, Lucy Dougherty de Miguel Funding agency: Agència Gestió Ajuts Universitaris i de Recerca Funding: 0.01 Reference: 2021 SGR 01171 Duration: 01/01/2022 - 30/06/2025
PMID: 36959467 Journal: JOURNAL OF HUMAN GENETICS Year: 2023 Reference: J Hum Genet. 2023 Aug;68(8):527-532. doi: 10.1038/s10038-023-01144-2. Epub 2023 Mar 23. Impact factor: Publication type: Paper in international publication Authors: Codina-Sola, Marta; Garcia-Arumi, Elena; Juntas-Morales, Raul; Llaurado, Arnau; Marti, Ramon; Martinez-Saez, Elena; Ramon, Javier; Restrepo-Vera, Juan Luis; Rovira-Moreno, Eulalia; Salvado, Maria et al. DOI: 10.1038/s10038-023-01144-2
PMID: 36976648 Journal: JOURNAL OF CLINICAL INVESTIGATION Year: 2023 Reference: J Clin Invest. 2023 May 15;133(10):e165019. doi: 10.1172/JCI165019. Impact factor: Publication type: Paper in international publication Authors: Abriata, Luciano A; Adeyemi, Adekemi M; Armengol, Lluis; Bain, Jennifer M; Beier, Christoph P; Bermejo-Sanchez, Eva; Bhat, Musadiq A; Blyth, Moira; Bocquete, Jean-Philippe; Bourgeat, Samuel et al. DOI: 10.1172/JCI165019
PMID: 36987741 Journal: AMERICAN JOURNAL OF MEDICAL GENETICS PART A Year: 2023 Reference: Am J Med Genet A. 2023 Jul;191(7):1722-1740. doi: 10.1002/ajmg.a.63194. Epub 2023 Mar 29. Impact factor: Publication type: Paper in international publication Authors: Alonso-Luengo, Olga; Anderlid, Britt-Marie; Angelovska, Elena Sukarova; Atton, Giles; Baralle, Diana; Bergman, Anke K; Boiroux, Pauline; Chaudhry, Ayeshah; Curie, Aurore; Debant, Anne et al. DOI: 10.1002/ajmg.a.63194
PMID: 37053555 Journal: BLOOD Year: 2023 Reference: Blood. 2023 Apr 13:blood.2022019543. doi: 10.1182/blood.2022019543. Impact factor: Publication type: Paper in international publication Authors: Andres, Mara; Astigarraga, Itziar; Balague, Olga; Campo, Elias; Castrejon-de-Anta, Natalia; Celis, Veronica; Colomer, Dolors; Diaz Crespo, Francisco Javier; Fernandez, Alba; Frigola, Gerard et al. DOI: 10.1182/blood.2022019543
PMID: 34942136 Journal: LANCET NEUROLOGY Year: 2022 Reference: Lancet Neurol. 2022 Jan;21(1):42-52. doi: 10.1016/S1474-4422(21)00367-7. Impact factor: 44.182 Publication type: Paper in international publication Authors: Goemans, Nathalie; Mercuri, Eugenio; Deconinck, Nicolas; Mazzone, Elena S; Nascimento, Andres; Oskoui, Maryam; Saito, Kayoko; Vuillerot, Carole; Baranello, Giovanni; Boespflug-Tanguy, Odile et al. DOI: 10.1016/S1474-4422(21)00367-7
PMID: 35142798 Journal: ARCHIVES OF PATHOLOGY & LABORATORY MEDICINE Year: 2022 Reference: Arch Pathol Lab Med. 2022 Jun 1;146(6):660-676. doi: 10.5858/arpa.2022-0029-SA. Impact factor: 5.534 Publication type: Paper in international publication Authors: Schwartz, David A; Avvad-Portari, Elyzabeth; Babal, Pavel; Baldewijns, Marcella; Blomberg, Marie; Bouachba, Amine; Saad, Ali G; Sand, Anna; Schoenmakers, Sam; Sehn, Jennifer K et al. DOI: 10.5858/arpa.2022-0029-SA
PMID: 34894068 Journal: AMERICAN JOURNAL OF MEDICAL GENETICS PART A Year: 2022 Reference: Am J Med Genet A. 2022 Mar;188(3):991-995. doi: 10.1002/ajmg.a.62596. Epub 2021 Dec 11. Impact factor: 2.802 Publication type: Paper in international publication Authors: Valenzuela, Irene; Guillen Benitez, Elena; Sanchez-Montanez, Angel; Limeres, Javier; Lopez-Grondona, Fermina; Cusco, Ivon; Tizzano, Eduardo F et al. DOI: 10.1002/ajmg.a.62596
PMID: 35732123 Journal: Cell Reports Year: 2022 Reference: Cell Rep. 2022 Jun 21;39(12):110988. doi: 10.1016/j.celrep.2022.110988. Impact factor: 9.423 Publication type: Paper in international publication Authors: Raurell, Helena; Perez-Gonzalez, Beatriz; Royo, Laura; Del Rio-Alvarez, Alvaro; Perez, Ainhoa; Valero, Vanesa; Le Pannerer, Marguerite-Marie; Garcia-Jaraquemada, Arce; Meers, Oliver; Carrillo-Reixach, Juan et al. DOI: 10.1016/j.celrep.2022.110988
PMID: 34493777 Journal: Scientific Reports Year: 2021 Reference: Sci Rep. 2021 Sep 7;11(1):18146. doi: 10.1038/s41598-021-97262-y. Impact factor: 4.38 Publication type: Letter or abstract Authors: Vidal, Silvia, Brandi, Nuria, Pacheco, Paola, Gerotina, Edgar, Trotta, Jean-Remi, Derdak, Sophia, Del Mar O'Callaghan, Maria, Garcia-Cazorla, Angels, Pineda, Merce, Armstrong, Judith et al. DOI: 10.1038/s41598-021-97262-y
PMID: 34943558 Journal: Diagnostics Year: 2021 Reference: Diagnostics (Basel). 2021 Dec 9;11(12). pii: diagnostics11122320. doi: 10.3390/diagnostics11122320. Impact factor: 3.706 Publication type: Review in international publication Authors: Abuli, Anna, Alvaro-Sanchez, Sara, Abreu-Rodriguez, Irene, Garrido-Navas, Maria Del Carmen, Serra-Juhe, Clara et al. DOI: 10.3390/diagnostics11122320
PMID: 34445733 Journal: INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES Year: 2021 Reference: Int J Mol Sci. 2021 Aug 21;22(16). pii: ijms22169029. doi: 10.3390/ijms22169029. Impact factor: 5.924 Publication type: Review in international publication Authors: Costa-Roger, Mar, Blasco-Perez, Laura, Cusco, Ivon, Tizzano, Eduardo F et al. DOI: 10.3390/ijms22169029
PMID: 34330959 Journal: Scientific Reports Year: 2021 Reference: Sci Rep. 2021 Jul 30;11(1):15511. doi: 10.1038/s41598-021-94798-x. Impact factor: 4.38 Publication type: Paper in international publication Authors: Calucho, Maite, Gartner, Silvia, Barranco, Paula, Fernandez-Alvarez, Paula, Perez, Raquel Garcia, Tizzano, Eduardo F et al. DOI: 10.1038/s41598-021-94798-x
PMID: 31958316 Journal: JOURNAL OF ENDOCRINOLOGY Year: 2020 Reference: J Endocrinol. 2020 Mar;244(3):523-533. doi: 10.1530/JOE-19-0545. Impact factor: Publication type: Paper in international publication Authors: Del Campo, Miguel; Lagos, Nestor; Lara, Hernan et al. DOI: 10.1530/JOE-19-0545
PMID: 31984499 Journal: ALCOHOLISM-CLINICAL AND EXPERIMENTAL RESEARCH Year: 2020 Reference: Alcohol Clin Exp Res. 2020 Mar;44(3):660-668. doi: 10.1111/acer.14294. Epub 2020 Feb 25. Impact factor: Publication type: Paper in international publication Authors: Abeche, Alberto Mantovani; da Silva, Andre Anjos; de Souza, Paulo Ricardo Assis; Del Campo, Miguel; Fraga, Lucas Rosa; Larrandaburu, Mariela; Rocha, Anastacia Guimaraes; Sanseverino, Maria Teresa V; Schuler-Faccini, Lavinia; Terra, Anna Pires et al. DOI: 10.1111/acer.14294
PMID: 32068651 Journal: JOURNAL OF PEDIATRIC HEMATOLOGY ONCOLOGY Year: 2020 Reference: J Pediatr Hematol Oncol. 2020 May;42(4):299-301. doi: 10.1097/MPH.0000000000001753. Impact factor: Publication type: Paper in international publication Authors: Del Campo, Miguel; Kuo, Dennis John; Masser-Frye, Diane; Savla, Dipal et al. DOI: 10.1097/MPH.0000000000001753
PMID: 33420009 Journal: Human genome variation Year: 2020 Reference: Hum Genome Var. 2020 Jun 8;7(1):20. doi: 10.1038/s41439-020-0105-3. Impact factor: 0 Publication type: Paper in international publication Authors: Cueto-Gonzalez, Anna M, Fernandez-Cancio, Monica, Fernandez-Alvarez, Paula, Garcia-Arumi, Elena, Tizzano, Eduardo F et al. DOI: 10.1038/s41439-020-0105-3
PMID: 30792901 Journal: npj Genomic Medicine Year: 2019 Reference: NPJ Genom Med. 2019 Feb 14;4:5. doi: 10.1038/s41525-018-0076-1. eCollection 2019. Impact factor: Publication type: Paper in international publication Authors: Ajay, Subramanian S; Belmont, John W; Bentley, David R; Del Campo, Miguel; Galarreta, Carolina I; Gross, Andrew; Jones, Marilyn C; Masser-Frye, Diane; McEachern, Julia; Perry, Denise L et al. DOI: 10.1038/s41525-018-0076-1
PMID: 30847353 Journal: Journal of Immunology Research Year: 2019 Reference: J Immunol Res. 2019 Jan 20;2019:7076942. doi: 10.1155/2019/7076942. eCollection 2019. Impact factor: Publication type: Paper in international publication Authors: Becker, Maria Ines; Curzio, Gianfranca; Del Campo, Miguel; Ferreira, Jorge; Jara, Lilian; Lladser, Alvaro; Manubens, Augusto; Mora Roman, Juan Jose; Murgas, Paola; Paolini, Francesca et al. DOI: 10.1155/2019/7076942
PMID: 30951754 Journal: TOXICON Year: 2019 Reference: Toxicon. 2019 Jun;164:26-30. doi: 10.1016/j.toxicon.2019.03.021. Epub 2019 Apr 3. Impact factor: Publication type: Paper in international publication Authors: Bustamante, Tamara; Del Campo, Miguel; Lagos, Nestor; Munoz, Vanina; Piron, Robin; Sanchez, Andrella; Sepulveda, Joaquin M; Simbaina, Juan Carlos; Torres, Cristian; Valenzuela, Carolina et al. DOI: 10.1016/j.toxicon.2019.03.021
PMID: 31024331 Journal: Frontiers in Physiology Year: 2019 Reference: Front Physiol. 2019 Apr 9;10:349. doi: 10.3389/fphys.2019.00349. eCollection 2019. Impact factor: Publication type: Paper in international publication Authors: Del Campo, Miguel; Lara, Hernan E; Piquer, Beatriz; Sridhar, Arun; Witherington, Jason et al. DOI: 10.3389/fphys.2019.00349
PMID: 29146176 Journal: TOXICON Year: 2018 Reference: Toxicon. 2018 Jan;141:15-17. doi: 10.1016/j.toxicon.2017.11.004. Epub 2017 Nov 13. Impact factor: Publication type: Paper in international publication Authors: Al Ghumgham, Zaki; Del Campo, Miguel; Lagos, Nestor; Montero, Cecilia; Riquelme, Gricel; Sepulveda, Joaquin M et al. DOI: 10.1016/j.toxicon.2017.11.004
PMID: 29293472 Journal: JOURNAL OF DEVELOPMENTAL AND BEHAVIORAL PEDIATRICS Year: 2018 Reference: J Dev Behav Pediatr. 2018 Jan;39(1):81-84. doi: 10.1097/DBP.0000000000000528. Impact factor: Publication type: Paper in international publication Authors: Braddock, Adam; Del Campo, Miguel; Reiff, Michael I; Stein, Martin T et al. DOI: 10.1097/DBP.0000000000000528
PMID: 29524730 Journal: EUROPEAN JOURNAL OF MEDICINAL CHEMISTRY Year: 2018 Reference: Eur J Med Chem. 2018 Apr 25;150:74-86. doi: 10.1016/j.ejmech.2018.02.082. Epub 2018 Feb 27. Impact factor: Publication type: Paper in international publication Authors: Becker, Maria Ines; Del Campo, Miguel; Lopez, Mercedes N; Palacios, Miriam; Salazar-Onfray, Flavio; Tampe, Ricardo; Zhong, Ta-Ying et al. DOI: 10.1016/j.ejmech.2018.02.082
PMID: NOPMID0074 Journal: CASE REPORTS IN PERINATAL MEDICINE Year: 2018 Reference: Case Reports in Perinatal Medicine. 2018 Mar 28;7(1). doi: 10.1515/crpm-2017-0025 Impact factor: 0 Publication type: Paper in international publication Authors: Valenzuela, Irene, Lines, Marcos, Martinez-Saez, Elena, Cueto-Gonzalez, Ana, Castillo, Felix, Tizzano, Eduardo et al. DOI: 10.1515/crpm-2017-0025
PMID: 27729236 Journal: European Journal of Medical Genetics Year: 2017 Reference: Eur J Med Genet. 2017 Jan;60(1):55-64. doi: 10.1016/j.ejmg.2016.10.004. Epub 2016 Oct 10. Impact factor: Publication type: Paper in international publication Authors: Del Campo, Miguel; Jones, Kenneth Lyons et al. DOI: 10.1016/j.ejmg.2016.10.004
PMID: 27956244 Journal: TOXICON Year: 2017 Reference: Toxicon. 2017 Feb;126:23-31. doi: 10.1016/j.toxicon.2016.12.005. Epub 2016 Dec 9. Impact factor: Publication type: Paper in international publication Authors: Del Campo, Miguel; Garcia, Lorena; Lagos, Nestor; Tampe, Ricardo; Zhong, Ta-Ying et al. DOI: 10.1016/j.toxicon.2016.12.005
PMID: 28328129 Journal: AMERICAN JOURNAL OF MEDICAL GENETICS PART A Year: 2017 Reference: Am J Med Genet A. 2017 Apr;173(4):841-857. doi: 10.1002/ajmg.a.38170. Impact factor: Publication type: Paper in international publication Authors: Cavalcanti, Denise P; Cernach, Mirlene C S P; Cordeiro, Marli T; Del Campo, Miguel; Dhalia, Rafael; Doriqui, Maria J R; Feitosa, Ian M L; Franca, Giovanny V A; Garcia-Alix, Alfredo; Horovitz, Dafne D G et al. DOI: 10.1002/ajmg.a.38170
PMID: 28844742 Journal: BIOCHIMICA ET BIOPHYSICA ACTA-PROTEINS AND PROTEOMICS Year: 2017 Reference: Biochim Biophys Acta Proteins Proteom. 2017 Dec;1865(12):1746-1757. doi: 10.1016/j.bbapap.2017.08.017. Epub 2017 Aug 24. Impact factor: Publication type: Paper in international publication Authors: Becker, Maria Ines; De Ioannes, Alfredo; Del Campo, Miguel; Ferreira, Jorge; Gonzalez, Andrea; Manubens, Augusto; Nova, Esteban et al. DOI: 10.1016/j.bbapap.2017.08.017
PMID: 27183578 Journal: JOURNAL OF IMMUNOLOGY Year: 2016 Reference: J Immunol. 2016 Jun 1;196(11):4650-62. doi: 10.4049/jimmunol.1501156. Epub 2016 Apr 22. Impact factor: Publication type: Paper in international publication Authors: Arancibia, Sergio; Becker, Maria Ines; Born, Raimundo; Del Campo, Miguel; Manubens, Augusto; Tampe, Ricardo; Villar, Javiera; Zhong, Ta-Ying et al. DOI: 10.4049/jimmunol.1501156
PMID: 27078840 Journal: PLoS One Year: 2016 Reference: PLoS One. 2016 Apr 14;11(4):e0153084. doi: 10.1371/journal.pone.0153084. eCollection 2016. Impact factor: Publication type: Paper in international publication Authors: Abuli, Anna; Alvarez-Urturi, Cristina; Andreu, Montserrat; Bessa, Xavier; Bujanda, Luis; Buron, Andrea; Castells, Antoni; Castellvi-Bel, Sergi; Esteban-Jurado, Clara; Grau, Jaume et al. DOI: 10.1371/journal.pone.0153084
PMID: 27646025 Journal: Year: 2016 Reference: Food Addit Contam Part A Chem Anal Control Expo Risk Assess. 2016 Nov;33(11):1711-1727. doi: 10.1080/19440049.2016.1239032. Epub 2016 Oct 11. Impact factor: Publication type: Paper in international publication Authors: Contreras, Cristobal; Contreras, Hector R; Del Campo, Miguel; Garcia, Carlos; Oyaneder-Terrazas, Javiera; Torres, Rafael et al. DOI: 10.1080/19440049.2016.1239032
PMID: 26501556 Journal: OSTEOPOROSIS INTERNATIONAL Year: 2016 Reference: Osteoporos Int. 2016 Feb;27(2):827-32. doi: 10.1007/s00198-015-3355-z. Impact factor: 4.169 Publication type: Paper in international publication Authors: Selga, J, Nunez, J H, Minguell, J, Lalanza, M, Garrido, M et al. DOI: 10.1007/s00198-015-3355-z
PMID: 25663682 Journal: JOURNAL OF MEDICAL GENETICS Year: 2015 Reference: J Med Genet. 2015 Apr;52(4):248-55. doi: 10.1136/jmedgenet-2014-102713. Epub 2015 Feb 6. Impact factor: 6.335 Publication type: Paper in international publication Authors: Segura-Puimedon, Maria, Borralleras, Cristina, Flores, Raquel, Del Campo, Miguel, Campuzano, Victoria, Perez-Jurado, Luis Alberto, Palacios-Verdu, Maria Gabriela et al. DOI: 10.1136/jmedgenet-2014-102713
PMID: 25969726 Journal: Molecular Autism Year: 2015 Reference: Mol Autism. 2015 Apr 15;6:21. doi: 10.1186/s13229-015-0017-0. eCollection 2015. Impact factor: 5.413 Publication type: Paper in international publication Authors: Gabau, Elisabeth, Botella, Maria Pilar, Gutierrez-Arumi, Armand, Antinolo, Guillermo, Perez-Jurado, Luis Alberto, Cusco, Ivon, Gener, Blanca, Del Campo, Miguel, Aznar-Lain, Gemma, Rigau, Maria et al. DOI: 10.1186/s13229-015-0017-0
PMID: 0003nopmid Journal: Prog Obstet Ginecol Year: 2015 Reference: Progresos de Obstetricia y Ginecología, 2015-12-01, Volumen 58, Número 10, Páginas 470-473 Impact factor: 0 Publication type: Paper in national publication Authors: Plaja Rustein, Alberto, Campo Casanelles, Miguel del, Casals, Elena, Figueras, Francesc, Chica, Rosana de la, Armengol, Lluis, Cirigliano , Vincenzo, Borrell, Antoni et al. DOI: 10.1016/j.pog.2015.05.003
PMID: 25898808 Journal: AMERICAN JOURNAL OF MEDICAL GENETICS PART A Year: 2015 Reference: Am J Med Genet A. 2015 Aug;167A(8):1796-806. doi: 10.1002/ajmg.a.37115. Epub 2015 Apr 21. Impact factor: 2.159 Publication type: Paper in international publication Authors: Garg, Abhimanyu, Kircher, Martin, Del Campo, Miguel, Amato, R Stephen, Agarwal, Anil K et al. DOI: 10.1002/ajmg.a.37115
PMID: 24563179 Journal: EUR RADIOL Year: 2014 Reference: Eur Radiol. 2014 May;24(5):1153-65. doi: 10.1007/s00330-014-3114-0. Epub 2014 Feb 23. Impact factor: 4.338 Publication type: Paper in international publication Authors: Nievelstein, Rutger A J, Stoker, Jaap, Bierings, Marc B, Hobbelink, Monique G, Beek, Frederik J A, Littooij, Annemieke S, Kwee, Thomas C, Barber, Ignasi, Granata, Claudio, Vermoolen, Malou A et al. DOI: 10.1007/s00330-014-3114-0
PMID: 24162162 Journal: PEDIATR NEPHROL Year: 2014 Reference: Pediatr Nephrol. 2014 Feb;29(2):223-34. doi: 10.1007/s00467-013-2657-7. Epub 2013 Oct 27. Impact factor: 2.881 Publication type: Paper in international publication Authors: Krall, Paola, Pineda, Cristina, Ruiz, Patricia, Ejarque, Laia, Vendrell, Teresa, Camacho, Juan Antonio, Mendizabal, Santiago, Oliver, Artur, Ballarin, Jose, Torra, Roser et al. DOI: 10.1007/s00467-013-2657-7
PMID: 24403048 Journal: HUM MOL GENET Year: 2014 Reference: Hum Mol Genet. 2014 Jun 1;23(11):2888-900. doi: 10.1093/hmg/ddu002. Epub 2014 Jan 8. Impact factor: 6.677 Publication type: Paper in international publication Authors: Clark, Dinah, Del Campo, Miguel, Di Donato, Nataliya, Diakumis, Peter, Dubbs, Holly, Dyment, David A, Eckhold, Juliane, Ernst, Sarah, Ferreira, Jose C, Francey, Lauren J et al. DOI: 10.1093/hmg/ddu002
PMID: 25196541 Journal: HUM MUTAT Year: 2014 Reference: Hum Mutat. 2014 Dec;35(12):1436-41. doi: 10.1002/humu.22689. Impact factor: 5.122 Publication type: Paper in international publication Authors: Tenorio, Jair, Mansilla, Alicia, Valencia, Maria, Martinez-Glez, Victor, Romanelli, Valeria, Espejo Portero, Isabel, Ruiz-Perez, Victor L, Lapunzina, Pablo, Plasencia, A, Rosa, Alberto L et al. DOI: 10.1002/humu.22689
PMID: 23522784 Journal: AMERICAN JOURNAL OF HUMAN GENETICS Year: 2013 Reference: Am J Hum Genet. 2013 Apr 4;92(4):598-604. doi: 10.1016/j.ajhg.2013.02.012. Epub 2013 Mar 21. Impact factor: 11.202 Publication type: Paper in international publication Authors: Ashour, Adel, Shaheen, Ranad, Aglan, Mona, Keppler-Noreuil, Kim, Faqeih, Eissa, Ansari, Shinu, Horton, Kim, Cueto-Gonzalez, Anna M, Abdel-Salam, Ghada, Temtamy, Samia et al. DOI: 10.1016/j.ajhg.2013.02.012
PMID: 23436824 Journal: ACTA RADIOLOGICA Year: 2013 Reference: Acta Radiol. 2013 Nov;54(9):1086-95. doi: 10.1177/028418511305400901. Epub 2013 Apr 30. Impact factor: 1.33 Publication type: Review in international publication Authors: Garcia-Pena, Pilar, Coma, Ana, Enriquez, Goya et al. DOI: 10.1177/028418511305400901
PMID: 24775460 Journal: REVISTA ESPANOLA DE CARDIOLOGIA Year: 2013 Reference: Rev Esp Cardiol. 2013 Mar;66(3):224-5. doi: 10.1016/j.rec.2012.06.018. Epub 2012 Sep 25. Impact factor: 3.204 Publication type: Letter whit IF Authors: Giralt, Gemma, Madrid, Alvaro, Garrido, Marta, Albert, Dimpna C, Betrian, Pedro, Girona, Josep et al. DOI: 10.1016/j.rec.2012.06.018
PMID: 23894094 Journal: AMERICAN JOURNAL OF MEDICAL GENETICS PART A Year: 2013 Reference: Am J Med Genet A. 2013 Sep;161(9):2363-8. doi: 10.1002/ajmg.a.36102. Epub 2013 Jul 25. Impact factor: 2.304 Publication type: Paper in international publication Authors: Campo, Miguel Del, Fernandez, Asuncion, Herrero, Marta, Barranco, Laura, Palau, Nuria, Lopez-Ariztegui, M Asuncion, Catala, Vicenc, Tejada, Maria-Isabel, Barrena, Beatriz, Martinez-Bouzas, Cristina et al. DOI: 10.1002/ajmg.a.36102
PMID: 23122587 Journal: AMERICAN JOURNAL OF HUMAN GENETICS Year: 2012 Reference: Am J Hum Genet. 2012 Nov 2;91(5):883-9. doi: 10.1016/j.ajhg.2012.09.012. Impact factor: 10.603 Publication type: Paper in international publication Authors: Schraders, Margit, Ruiz-Palmero, Laura, Kalay, Ersan, Oostrik, Jaap, del Castillo, Francisco J, Sezgin, Orhan, Beynon, Andy J, Strom, Tim M, Pennings, Ronald J E, Seco, Celia Zazo et al. DOI: 10.1016/j.ajhg.2012.09.012
PMID: 23056206 Journal: PLoS One Year: 2012 Reference: PLoS One. 2012;7(10):e45530. doi: 10.1371/journal.pone.0045530. Epub 2012 Oct 3. Impact factor: 4.092 Publication type: Paper in international publication Authors: Serra-Juhe, Clara, Rodriguez-Santiago, Benjamin, Cusco, Ivon, Vendrell, Teresa, Camats, Nuria, Toran, Nuria, Perez-Jurado, Luis A et al. DOI: 10.1371/journal.pone.0045530
PMID: 22758650 Journal: PEDIATRIC AND DEVELOPMENTAL PATHOLOGY Year: 2012 Reference: Pediatr Dev Pathol. 2012 Sep-Oct;15(5):397-402. doi: 10.2350/12-05-1193-CR.1. Epub 2012 Jul 3. Impact factor: 0.986 Publication type: Review in international publication Authors: , , , , , et al. DOI: 10.2350/12-05-1193-CR.1
PMID: 22664374 Journal: BLOOD CELLS MOLECULES AND DISEASES Year: 2012 Reference: Blood Cells Mol Dis. 2012 Oct 15-Dec 15;49(3-4):140-6. doi: 10.1016/j.bcmd.2012.05.008. Epub 2012 Jun 2. Impact factor: 2.351 Publication type: Paper in international publication Authors: , , , , , , , , , et al. DOI: 10.1016/j.bcmd.2012.05.008
PMID: 21553041 Journal: PEDIATRIC RADIOLOGY Year: 2011 Reference: Pediatr Radiol. 2011 Jul;41(7):916-24. doi: 10.1007/s00247-011-2065-8. Epub 2011 May 7. Impact factor: 1.499 Publication type: Review in international publication Authors: Lucaya, Javier, Garces-Inigo, Enrique F, Garcia-Pena, Pilar, Piqueras, Joaquim, Enriquez, Goya et al. DOI: 10.1007/s00247-011-2065-8
PMID: 21398195 Journal: ANALES DE PEDIATRIA Year: 2011 Reference: An Pediatr (Barc). 2011 Jul;75(1):33-9. doi: 10.1016/j.anpedi.2011.01.026. Epub 2011 Mar 12. Impact factor: 0.57 Publication type: Letter or abstract Authors: Chocron de Benzaquen, S, Munoz Lopez, M, Madrid Aris, A D, Castellote Alonso, A, Enriquez, G, Nieto Rey, J L et al. DOI: 10.1016/j.anpedi.2011.01.026
PMID: 21768243 Journal: RADIOGRAPHICS Year: 2011 Reference: Radiographics. 2011 Jul-Aug;31(4):1123-39. doi: 10.1148/rg.314105180. Impact factor: 2.76 Publication type: Review in international publication Authors: Vazquez, Elida, Delgado, Ignacio, Sanchez-Montanez, Angel, Barber, Ignasi, Sanchez-Toledo, Jose, Enriquez, Goya et al. DOI: 10.1148/rg.314105180
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PhD student: Anna Maria Cueto Gonzalez, Anna Maria Cueto Gonzalez Director/s: University: Universidad Autònoma de Barcelona Year: 2016
PhD student: Maite Calucho Prim Director/s: University: Universidad Autònoma de Barcelona Year: 2014
PhD student: Jorge Pérez López Director/s: University: Universidad Autònoma de Barcelona Year: 2007
The results show that, in some patients with mutations in the X chromosome, the healthy gene is inactivated and the mutated gene manifests itself, which favors the onset of the disease.
On January 24, a session was held to explain what these three-dimensional models are and what advantages they have, as well as to review some of their applications in research.
The research has studied the structure and function of proteins related to this degenerative disease and their interaction with SMN2 messenger RNA (mRNA), which is key to the evolution of patients.
