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: Núria Martínez Gil, Miriam Izquierdo Sans, Laia Perez Lasarte Funding agency: Ministerio de Ciencia e Innovación-MICINN Funding: 64800 Reference: FJC2021-046715-I Duration: 01/01/2023 - 31/12/2024
IP: Eduardo Fidel Tizzano Collaborators: Georg Lindner Funding agency: EUROPEAN COMMISSION Funding: 250904.88 Reference: SMABEYOND_MSCA-ITN_H2020-2019 Duration: 01/10/2020 - 30/09/2024
IP: Alberto Plaja Rustein Collaborators: Anna Maria Cueto Gonzalez Funding agency: Instituto de Salud Carlos III Funding: 123420 Reference: PI20/01767 Duration: 01/01/2021 - 30/06/2025
IP: Belen Perez Dueñas Collaborators: Maria Victoria Gonzalez Martinez, Ainara Salazar Villacorta, Ana Laura Cazurro Gutierrez, Amaia Lasa Aranzasti Funding agency: Instituto de Salud Carlos III Funding: 125840 Reference: PI21/00248 Duration: 01/01/2022 - 31/12/2024
PMID: 37303278 Journal: AMERICAN JOURNAL OF MEDICAL GENETICS PART A Year: 2023 Reference: Am J Med Genet A. 2023 Jun 11. doi: 10.1002/ajmg.a.63313. Impact factor: Publication type: Letter or abstract Authors: Ansari, M; Ashraf, T; Calder, A; Cueto-Gonzalez, Anna M feminine; Day, M; Fernandez Alvarez, P; Foster, A; Grimes, H; Lahiri, N; Low, Karen J et al. DOI: 10.1002/ajmg.a.63313
PMID: 37331901 Journal: ARCHIVOS DE BRONCONEUMOLOGIA Year: 2023 Reference: Arch Bronconeumol. 2023 Jun 1:S0300-2896(23)00173-4. doi: 10.1016/j.arbres.2023.05.015. Impact factor: Publication type: Letter or abstract Authors: Arismendi, Ebymar; Barranco, Pilar; Barroso, Blanca; Betancor, Diana; Bobolea, Irina; Cardaba, Blanca; Cruz, Maria Jesus; Curto, Elena; Dominguez-Ortega, Javier; Gonzalez-Barcala, Francisco-Javier et al. DOI: 10.1016/j.arbres.2023.05.015
PMID: 37356622 Journal: JOURNAL OF MOLECULAR DIAGNOSTICS Year: 2023 Reference: J Mol Diagn. 2023 Jun 23:S1525-1578(23)00134-4. doi: 10.1016/j.jmoldx.2023.06.006. Impact factor: Publication type: Paper in international publication Authors: Antolin, Maria; Blasco-Perez, Laura; Camprodon-Gomez, Maria; Garcia-Arumi, Elena; Iranzo-Nuez, Leticia; Lopez-Ortega, Ricard; Martinez-Cruz, Desiree; Tenes, Anna; Tizzano, Eduardo F et al. DOI: 10.1016/j.jmoldx.2023.06.006
PMID: 37384395 Journal: HUMAN MOLECULAR GENETICS Year: 2023 Reference: Hum Mol Genet. 2023 Jun 29:ddad109. doi: 10.1093/hmg/ddad109. Impact factor: Publication type: Paper in international publication Authors: Breslow, David K; Bruel, Ange-Line; Duffourd, Yannis; Ganga, Anil Kumar; Kmoch, Stanislav; Majer, Filip; Martinez-Gil, Nuria; Martinovic, Jelena; Mohler, Marketa; Noskova, Lenka et al. DOI: 10.1093/hmg/ddad109
PMID: 35784294 Journal: Frontiers in Immunology Year: 2022 Reference: Front Immunol. 2022 Jun 17;13:897975. doi: 10.3389/fimmu.2022.897975. eCollection 2022. Impact factor: 7.561 Publication type: Letter or abstract Authors: Valenzuela, Irene; Franco-Jarava, Clara; Colobran, Roger; Batlle-Maso, Laura; Castells, Neus; Dieli-Crimi, Romina; Martinez-Gallo, Monica; Garcia-Prat, Marina; Riviere, Jacques G; Soler-Palacin, Pere et al. DOI: 10.3389/fimmu.2022.897975
PMID: 34708400 Journal: CLINICAL GENETICS Year: 2022 Reference: Clin Genet. 2022 Jan;101(1):144-145. doi: 10.1111/cge.14078. Epub 2021 Oct 27. Impact factor: 4.438 Publication type: Letter or abstract Authors: Gawlinski, Pawel; Lasa-Aranzasti, Amaia; Martinez-Soroa, Itziar; Artola Aizalde, Elena; Saez Villaverde, Raquel; Aguirre Rodriguez, Cristina; Satrustegi Aritziturri, Miren; Hernandez Dorronsoro, Unai et al. DOI: 10.1111/cge.14078
PMID: 35833929 Journal: GENETICS IN MEDICINE Year: 2022 Reference: Genet Med. 2022 Jul 13. pii: S1098-3600(22)00816-4. doi: 10.1016/j.gim.2022.06.007. Impact factor: 8.822 Publication type: Paper in international publication Authors: Kini, Usha, Ockeloen, Charlotte W, de Boer, Elke, Kampen, Rosalie A, Lasa-Aranzasti, Amaia, Hampstead, Juliet E, Rots, Dmitrijs, Helm, Benjamin M, Goos, Jacqueline A C, Genevieve, David et al. DOI: 10.1016/j.gim.2022.06.007
PMID: 35227301 Journal: Orphanet Journal of Rare Diseases Year: 2022 Reference: Orphanet J Rare Dis. 2022 Feb 28;17(1):85. doi: 10.1186/s13023-021-02079-7. Impact factor: 4.123 Publication type: Paper in international publication Authors: Arevalo, Sara, Del Mar Arias, Maria, Balmana, Judith, Beristain, Elena, Blanco, Ignacio, Boronat, Mauro, Brunet, Joan, Cozar, Maria Victoria, Del Campo, Miguel, Diaz, Arantza et al. DOI: 10.1186/s13023-021-02079-7
PMID: 34212338 Journal: Clinical & Translational Oncology Year: 2021 Reference: Clin Transl Oncol. 2021 Dec;23(12):2460-2473. doi: 10.1007/s12094-021-02654-1. Epub 2021 Jul 1. Impact factor: 3.405 Publication type: Paper in international publication Authors: Ruano, D, Rubio, P, Verges, R, Valverde, C, Gallego, S, Bernabeu, D, Hindi, N, Mata, C, Marquez, C, Orcajo, J et al. DOI: 10.1007/s12094-021-02654-1
PMID: 33142000 Journal: Journal of Genetic Counseling Year: 2021 Reference: J Genet Couns. 2021 Jun;30(3):693-700. doi: 10.1002/jgc4.1354. Epub 2020 Nov 3. Impact factor: 2.537 Publication type: Paper in international publication Authors: Cruz, Jordi, Garcia-Arumi, Elena, Tizzano, Eduardo F, Garci-Espejo, Regla, Martinez-Ribot, Laia, Brun-Gasca, Carme, Rovira-Moreno, Eulalia, Abuli, Anna, Codina-Sola, Marta, Valenzuela, Irene et al. DOI: 10.1002/jgc4.1354
PMID: 34096446 Journal: Journal of Maternal-Fetal & Neonatal Medicine Year: 2021 Reference: J Matern Fetal Neonatal Med. 2021 Jun 6:1-4. doi: 10.1080/14767058.2021.1934444. Impact factor: 2.398 Publication type: Paper in international publication Authors: Martos Rodriguez, Marta, Guillen, Gabriela, Lopez-Fernandez, Sergio, Martin Gimenez, Marta, Ruiz, Cesar W, Ribes, Carmen, Lopez, Manuel, Molino, Jose Andres et al. DOI: 10.1080/14767058.2021.1934444
PMID: 34068396 Journal: Genes Year: 2021 Reference: Genes (Basel). 2021 May 13;12(5). pii: genes12050738. doi: 10.3390/genes12050738. Impact factor: 4.096 Publication type: Paper in international publication Authors: Perez-Jurado, Luis A, Pacio-Miguez, Marta, Gomez, Beatriz, Arias, Pedro, Alcochea, Alba, Carrion, Juan, Arias, Patricia, Almoguera, Berta, Lopez-Grondona, Fermina, Lorda-Sanchez, Isabel et al. DOI: 10.3390/genes12050738
PMID: 33194912 Journal: Frontiers in Pediatrics Year: 2020 Reference: Front Pediatr. 2020 Oct 23;8:580584. doi: 10.3389/fped.2020.580584. eCollection 2020. Impact factor: 2.634 Publication type: Paper in international publication Authors: Ribes Bautista, Carmen, Fernandez Colomer, Belen, Sanchez-Luna, Manuel, de Alba Romero, Concepcion, Alarcon, Ana, Bana Souto, Ana, Camba Longueira, Fatima, Cernada, Maria, Galve Pradell, Zenaida, Gonzalez Lopez, Maria et al. DOI: 10.3389/fped.2020.580584
PMID: 33182294 Journal: Journal of Clinical Medicine Year: 2020 Reference: J Clin Med. 2020 Nov 9;9(11). pii: jcm9113603. doi: 10.3390/jcm9113603. Impact factor: 3.303 Publication type: Paper in international publication Authors: Baz-Redon, Noelia, Rovira-Amigo, Sandra, Fernandez-Cancio, Monica, Castillo-Corullon, Silvia, Cols, Maria, Caballero-Rabasco, M Araceli, Asensio, Oscar, Martin de Vicente, Carlos, Martinez-Colls, Maria Del Mar, Torrent-Vernetta, Alba et al. DOI: 10.3390/jcm9113603
PMID: 32896090 Journal: AMERICAN JOURNAL OF MEDICAL GENETICS PART A Year: 2020 Reference: Am J Med Genet A. 2020 Nov;182(11):2742-2745. doi: 10.1002/ajmg.a.61839. Epub 2020 Sep 8. Impact factor: 2.125 Publication type: Letter or abstract Authors: Mur, Pilar, Valenzuela, Irene, Codina, Marta, Fernandez-Alvarez, Paula, Cusco, Ivon, Tizzano, Eduardo F, Valle, Laura et al. DOI: 10.1002/ajmg.a.61839
PMID: 32619640 Journal: JOURNAL OF MOLECULAR DIAGNOSTICS Year: 2020 Reference: J Mol Diagn. 2020 Sep;22(9):1205-1215. doi: 10.1016/j.jmoldx.2020.06.008. Epub 2020 Jun 30. Impact factor: 5.553 Publication type: Paper in international publication Authors: Mencarelli, Maria Antonietta, Soler, Doriette, Morava, Eva, Barbetti, Fabrizio, Forzano, Francesca, Mari, Francesca, Muntoni, Francesco, Tort, Frederic, Houlden, Henry James, Tejada, Maria-Isabel et al. DOI: 10.1016/j.jmoldx.2020.06.008
PMID: 31226736 Journal: International Journal of Environmental Research and Public Health Year: 2019 Reference: Int J Environ Res Public Health. 2019 Jun 20;16(12):2179. doi: 10.3390/ijerph16122179. Impact factor: Publication type: Paper in international publication Authors: Admire, Ami; Akshoomoff, Natacha; Calac, Daniel; Chambers, Christina D; Del Campo, Miguel; Goodblanket, Amiyonette; Jensen, Toni; Jones, Kenneth Lyons; Montag, Annika C; Romero, Rhonda et al. DOI: 10.3390/ijerph16122179
PMID: 31681265 Journal: Frontiers in Immunology Year: 2019 Reference: Front Immunol. 2019 Oct 1;10:2325. doi: 10.3389/fimmu.2019.02325. eCollection 2019. Impact factor: 4.716 Publication type: Paper in international publication Authors: Rudilla, Francesc, Franco-Jarava, Clara, Martinez-Gallo, Monica, Garcia-Prat, Marina, Martin-Nalda, Andrea, Riviere, Jacques, Aguilo-Cucurull, Aina, Mongay, Laura, Vidal, Francisco, Solanich, Xavier et al. DOI: 10.3389/fimmu.2019.02325
PMID: 31663686 Journal: Molecular Genetics & Genomic Medicine Year: 2019 Reference: Mol Genet Genomic Med. 2019 Dec;7(12):e1016. doi: 10.1002/mgg3.1016. Epub 2019 Oct 30. Impact factor: 2.448 Publication type: Paper in international publication Authors: Martin-Nalda, Andrea, Cueto-Gonzalez, Anna M, Argudo-Ramirez, Ana, Marin-Soria, Jose L, Martinez-Gallo, Monica, Colobran, Roger, Plaja, Albert, Castells, Neus, Riviere, Jacques, Tizzano, Eduardo F et al. DOI: 10.1002/mgg3.1016
PMID: 31502291 Journal: ANNALS OF NEUROLOGY Year: 2019 Reference: Ann Neurol. 2019 Nov;86(5):803. doi: 10.1002/ana.25597. Epub 2019 Oct 3. Impact factor: 9.496 Publication type: Letter or abstract Authors: Mendonca, Rodrigo H, Rocha, Antonio J, Lozano-Arango, Andres, Diaz, Astry B, Castiglioni, Claudia, Reed, Umbertina C, Silva, Andre M S, Kulikowski, Leslie, Paramonov, Ida, Cusco, Ivon et al. DOI: 10.1002/ana.25597
PMID: 28958749 Journal: ANALES DE PEDIATRIA Year: 2018 Reference: An Pediatr (Barc). 2018 Jul;89(1):3-11. doi: 10.1016/j.anpedi.2017.07.011. Epub 2017 Sep 27. Impact factor: 1.14 Publication type: Paper in national publication Authors: Castells-Sarret, Neus, Cueto-Gonzalez, Anna M, Borregan, Mar, Lopez-Grondona, Fermina, Miro, Rosa, Tizzano, Eduardo, Plaja, Alberto et al. DOI: 10.1016/j.anpedi.2017.07.011
PMID: 30568515 Journal: International journal of women's health Year: 2018 Reference: Int J Womens Health. 2018 Nov 28;10:783-795. doi: 10.2147/IJWH.S174734. eCollection 2018. Impact factor: 0 Publication type: Paper in international publication Authors: Olaya-C, Mercedes, Garrido, Marta, Hernandez-Losa, Javier, Sese, Marta, Ayala-Ramirez, Paola, Somoza, Rosa, Vargas, Magda Jimena, Cajal, Santiago Ramon Y et al. DOI: 10.2147/IJWH.S174734
PMID: 30063981 Journal: CLINICAL IMMUNOLOGY Year: 2018 Reference: Clin Immunol. 2018 Oct;195:49-58. doi: 10.1016/j.clim.2018.07.015. Epub 2018 Jul 29. Impact factor: 3.557 Publication type: Paper in international publication Authors: Dieli-Crimi, Romina, Martinez-Gallo, Monica, Franco-Jarava, Clara, Antolin, Maria, Blasco, Laura, Paramonov, Ida, Semidey, Maria E, Fernandez, Antoni Alvarez, Velasquez, Julio, Martin-Nalda, Andrea et al. DOI: 10.1016/j.clim.2018.07.015
PMID: 29465313 Journal: FASEB JOURNAL Year: 2018 Reference: FASEB J. 2018 Feb 20:fj201700941RR. doi: 10.1096/fj.201700941RR. Impact factor: 5.595 Publication type: Paper in international publication Authors: Barcena, Cristina, Aran, Gemma, Sanjurjo, Lucia, Vazquez-Vitali, Maria, Garrido, Marta, Guerra, Laura, Diaz, Esther, Ojanguren, Isabel, Elortza, Felix, Planas, Ramon et al. DOI: 10.1096/fj.201700941RR
PMID: 28681252 Journal: JOURNAL OF AUTISM AND DEVELOPMENTAL DISORDERS Year: 2017 Reference: J Autism Dev Disord. 2017 Oct;47(10):2947-2956. doi: 10.1007/s10803-017-3203-4. Impact factor: 3.321 Publication type: Paper in international publication Authors: Codina-Sola, Marta, Perez-Jurado, Luis A, Cusco, Ivon, Serra-Juhe, Clara et al. DOI: 10.1007/s10803-017-3203-4
PMID: 27620364 Journal: European Journal of Medical Genetics Year: 2017 Reference: Eur J Med Genet. 2017 Jan;60(1):65-71. doi: 10.1016/j.ejmg.2016.09.003. Epub 2016 Sep 9. Impact factor: 1.81 Publication type: Paper in international publication Authors: Boronat, S, Sanchez-Montanez, A, Gomez, N, Jacas, C, Martinez-Ribot, L, Vazquez, E, Del Campo, M et al. DOI: 10.1016/j.ejmg.2016.09.003
PMID: 27638326 Journal: European Journal of Medical Genetics Year: 2017 Reference: Eur J Med Genet. 2017 Jan;60(1):72-78. doi: 10.1016/j.ejmg.2016.09.012. Epub 2016 Sep 13. Impact factor: 1.81 Publication type: Paper in international publication Authors: Boronat, S, Vicente, M, Lainez, E, Sanchez-Montanez, A, Vazquez, E, Mangado, L, Martinez-Ribot, L, Del Campo, M et al. DOI: 10.1016/j.ejmg.2016.09.012
PMID: 27567161 Journal: BRAIN & DEVELOPMENT Year: 2017 Reference: Brain Dev. 2017 Jan;39(1):62-66. doi: 10.1016/j.braindev.2016.08.003. Epub 2016 Aug 25. Impact factor: 1.785 Publication type: Paper in international publication Authors: Sanchez-Montanez, Angel, de Grazia, Jose, Delgado, Ignacio, Vazquez, Elida, Del Campo, Miguel, Boronat, Susana et al. DOI: 10.1016/j.braindev.2016.08.003
PMID: 27404287 Journal: Translational Psychiatry Year: 2016 Reference: Transl Psychiatry. 2016 Jul 12;6(7):e855. doi: 10.1038/tp.2016.120. Impact factor: 5.538 Publication type: Paper in international publication Authors: Homs, A, Codina-Sola, M, Rodriguez-Santiago, B, Villanueva, C M, Monk, D, Cusco, I, Perez-Jurado, L A et al. DOI: 10.1038/tp.2016.120
PMID: 27317871 Journal: TOXICON Year: 2016 Reference: Toxicon. 2016 Sep 1;119:180-5. doi: 10.1016/j.toxicon.2016.06.010. Epub 2016 Jun 15. Impact factor: 2.309 Publication type: Paper in international publication Authors: Hinzpeter, Jaime, Barrientos, Cristian, Zamorano, Alvaro, Martinez, Alvaro, Palet, Miguel, Wulf, Rodrigo, Barahona, Maximiliano, Sepulveda, Joaquin M, Bustamante, Tamara, Del Campo, Miguel et al. DOI: 10.1016/j.toxicon.2016.06.010
PMID: 25703627 Journal: HUMAN MUTATION Year: 2015 Reference: Hum Mutat. 2015 May;36(5):535-47. doi: 10.1002/humu.22774. Epub 2015 Apr 6. Impact factor: 5.144 Publication type: Review in national publication Authors: Syx, Delfien, Van Damme, Tim, Symoens, Sofie, Maiburg, Merel C, van de Laar, Ingrid, Morton, Jenny, Suri, Mohnish, Del Campo, Miguel, Hausser, Ingrid, Hermanns-Le, Trinh et al. DOI: 10.1002/humu.22774
PMID: 26382598 Journal: CYTOGENETIC AND GENOME RESEARCH Year: 2015 Reference: Cytogenet Genome Res. 2015;146(3):181-6. doi: 10.1159/000439463. Epub 2015 Sep 18. Impact factor: 1.561 Publication type: Paper in international publication Authors: Lloveras, Elisabet, Izquierdo, Luis, Borregan, Mar, Rodriguez-Santiago, Benjamin, Carrio, Anna, Miro, Rosa, Tizzano, Eduardo, Vendrell, Teresa, del Campo, Miguel, Castells, Neus et al. DOI: 10.1159/000439463
PMID: 25853300 Journal: EUROPEAN JOURNAL OF HUMAN GENETICS Year: 2015 Reference: Eur J Hum Genet. 2015 Dec;23(12):1615-26. doi: 10.1038/ejhg.2015.51. Epub 2015 Apr 8. Impact factor: 4.349 Publication type: Paper in international publication Authors: Nevado, Julian, Rosenfeld, Jill A, Mena, Rocio, Palomares-Bralo, Maria, Vallespin, Elena, Angeles Mori, Maria, Tenorio, Jair A, Gripp, Karen W, Denenberg, Elizabeth, Fernandez-Ramirez, Fernando et al. DOI: 10.1038/ejhg.2015.51
PMID: 25587870 Journal: Epigenetics Year: 2015 Reference: Epigenetics. 2015;10(2):167-77. doi: 10.1080/15592294.2014.998536. Impact factor: 4.78 Publication type: Paper in international publication Authors: Serra-Juhe, Clara, Homs, Aida, Flores, Raquel, Toran, Nuria, Perez-Jurado, Luis A, Cusco, Ivon et al. DOI: 10.1080/15592294.2014.998536
PMID: 25200617 Journal: REVISTA ESPANOLA DE CARDIOLOGIA Year: 2014 Reference: Rev Esp Cardiol (Engl Ed). 2014 Oct;67(10):861-3. doi: 10.1016/j.rec.2014.06.003. Epub 2014 Sep 8. Impact factor: 3.342 Publication type: Letter or abstract Authors: Teixido-Tura, Gisela, Valenzuela, Irene, Gutierrez, Laura, Borregan, Mar, del Campo, Miguel, Evangelista, Artur et al. DOI: 10.1016/j.rec.2014.06.003
PMID: 25015250 Journal: MED CLIN-BARCELONA Year: 2014 Reference: Med Clin (Barc). 2014 Dec 23;143(12):e23. doi: 10.1016/j.medcli.2014.05.016. Epub 2014 Jul 9. Impact factor: 1.252 Publication type: Paper in national publication Authors: Cueto Gonzalez, Ana Maria, Yela Verdu, Christian, May Llanes, Maria Elena, de Pablo Marquez, Bernat et al. DOI: 10.1016/j.medcli.2014.05.016
PMID: 25720458 Journal: CYTOGENET GENOME RES Year: 2014 Reference: Cytogenet Genome Res. 2014;144(4):290-3. doi: 10.1159/000375184. Epub 2015 Feb 14. Impact factor: 1.905 Publication type: Paper in international publication Authors: Lloveras, Elisabet, Vendrell, Teresa, Fernandez, Asuncion, Castells, Neus, Cueto, Ana, Del Campo, Miguel, Hernando, Cristina, Villa, Olaya, Plaja, Alberto et al. DOI: 10.1159/000375184
PMID: 25046559 Journal: CLIN CHIM ACTA Year: 2014 Reference: Clin Chim Acta. 2014 Nov 1;437:88-92. doi: 10.1016/j.cca.2014.07.016. Epub 2014 Jul 19. Impact factor: 2.764 Publication type: Paper in international publication Authors: Borregan, Mar, Sobrino, Beatriz, Amigo, Jorge, Garcia-Dorado, David, Evangelista, Artur, Carracedo, Angel, Brion, Maria, Del Campo, Miguel, Valenzuela, Irene, Blanco-Verea, Alejandro et al. DOI: 10.1016/j.cca.2014.07.016
PMID: 23320472 Journal: CLINICAL GENETICS Year: 2013 Reference: Clin Genet. 2013 Dec;84(6):539-45. doi: 10.1111/cge.12081. Epub 2013 Apr 26. Impact factor: 3.944 Publication type: Paper in international publication Authors: Del Campo, Miguel, Makrythanasis, Periklis, van Bon, Bregje W, Steehouwer, Marloes, Rodriguez-Santiago, Benjamin, Simpson, Michael, Dias, Patricia, Anderlid, Britt Marie, Arts, Peer, Bhat, Meenakshi et al. DOI: 10.1111/cge.12081
PMID: 23018040 Journal: REVISTA ESPANOLA DE CARDIOLOGIA Year: 2013 Reference: Rev Esp Cardiol. 2013 Mar;66(3):224-5. doi: 10.1016/j.recesp.2012.06.028. Epub 2012 Sep 25. Impact factor: 3.204 Publication type: Letter whit IF Authors: Albert, Dimpna C, Betrian, Pedro, Girona, Josep, Garrido, Marta, Madrid, Alvaro, Giralt, Gemma et al. DOI: 10.1016/j.recesp.2012.06.028
PMID: 23222957 Journal: NATURE GENETICS Year: 2013 Reference: Nat Genet. 2013 Jan;45(1):83-7. doi: 10.1038/ng.2497. Epub 2012 Dec 9. Impact factor: 35.209 Publication type: Paper in international publication Authors: Del Campo, Miguel, Simpson, Michael A, Yau, Shu, Bertini, Enrico, McClelland, Verity, Al-Owain, Mohammed, Koelker, Stefan, Koerner, Christian, Hoffmann, Georg F, Wijburg, Frits A et al. DOI: 10.1038/ng.2497
PMID: 22644455 Journal: PEDIATRIC RADIOLOGY Year: 2012 Reference: Pediatr Radiol. 2012 Aug;42(8):916-22. doi: 10.1007/s00247-012-2362-x. Epub 2012 May 29. Impact factor: 1.674 Publication type: Paper in international publication Authors: , , , , , , et al. DOI: 10.1007/s00247-012-2362-x
PMID: 22121851 Journal: BRITISH JOURNAL OF DERMATOLOGY Year: 2012 Reference: Br J Dermatol. 2012 Apr;166(4):830-838. doi: 10.1111/j.1365-2133.2011.10756.x. Epub 2012 Mar 2. Impact factor: 3.666 Publication type: Paper in international publication Authors: , , , , , , , , , et al. DOI: 10.1111/j.1365-2133.2011.10756.x
PMID: 22465605 Journal: REVISTA ESPANOLA DE CARDIOLOGIA Year: 2012 Reference: Rev Esp Cardiol (Engl Ed). 2012 May;65(5):447-55. doi: 10.1016/j.recesp.2011.12.016. Epub 2012 Mar 31. Impact factor: 2.53 Publication type: Paper in national publication Authors: , , , , , , , , , et al. DOI: 10.1016/j.recesp.2011.12.016
PMID: 21975797 Journal: HUMAN GENETICS Year: 2012 Reference: Hum Genet. 2012 Mar;131(3):513-23. Impact factor: 5.069 Publication type: Paper in international publication Authors: , , , , , , , , , et al. DOI: 10.1007/s00439-011-1095-5
PMID: 21771150 Journal: JOURNAL OF PAEDIATRICS AND CHILD HEALTH Year: 2011 Reference: J Paediatr Child Health. 2011 Jul;47(7):485-6. doi: 10.1111/j.1440-1754.2011.02136.x. Impact factor: 1.221 Publication type: Letter or abstract Authors: Fernandez-San Jose, Carolina, Martin-Nalda, Andrea, Vendrell Bayona, Teresa, Soler-Palacin, Pere et al. DOI: 10.1111/j.1440-1754.2011.02136.x
PMID: 21712857 Journal: EUROPEAN JOURNAL OF HUMAN GENETICS Year: 2011 Reference: Eur J Hum Genet. 2011 Dec;19(12):1218-25. doi: 10.1038/ejhg.2011.128. Epub 2011 Jun 29. Impact factor: 4.38 Publication type: Paper in international publication Authors: , , , , , , , , , et al. DOI: 10.1038/ejhg.2011.128
PMID: 21565404 Journal: LEUKEMIA RESEARCH Year: 2011 Reference: Leuk Res. 2011 Aug;35(8):1066-9. Epub 2011 May 11. Impact factor: 2.555 Publication type: Paper in international publication Authors: de la Chica, Rosa Ana, Mediano, Carmen, Salido, Marta, Espinet, Blanca, Manresa, Josep Maria, Sole, Francesc et al. DOI: 10.1016/j.leukres.2011.04.010
PMID: 20888579 Journal: JOURNAL OF PSYCHIATRIC RESEARCH Year: 2011 Reference: J Psychiatr Res. 2011 Feb;45(2):280-2. Impact factor: 3.827 Publication type: Letter or abstract Authors: , , , , , , , , , et al. DOI: 10.1016/j.jpsychires.2010.09.001
PMID: 19897463 Journal: JOURNAL OF MEDICAL GENETICS Year: 2010 Reference: J Med Genet. 2010 May;47(5):312-20. Epub 2009 Nov 5. Impact factor: 5.751 Publication type: Paper in international publication Authors: Antonell, A, Del Campo, M, Magano, L F, Kaufmann, L, de la Iglesia, J Martinez, Gallastegui, F, Flores, R, Schweigmann, U, Fauth, C, Kotzot, D et al. DOI: 10.1136/jmg.2009.071712
PMID: 20150575 Journal: JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM Year: 2010 Reference: J Clin Endocrinol Metab. 2010 Apr;95(4):1876-88. Epub 2010 Feb 11. Impact factor: 6.202 Publication type: Paper in international publication Authors: , , , , , , , , , et al. DOI: 10.1210/jc.2009-2146
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.
