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:
PMID: 39060653 Journal: EUROPEAN JOURNAL OF HUMAN GENETICS Year: 2024 Reference: Eur J Hum Genet. 2024 Jul 26. doi: 10.1038/s41431-024-01659-y. Impact factor: Publication type: Other (letters to the editor, abstracts, corrigendum, etc.) Authors: Angireddy, Rajesh; Au, Billie; Averdunk, Luisa; Balci, Tugce; Barwick, Katy; Baskin, Stephanie; Battault, Clarisse; Baxova, Alica; Bendova, Sarka; Bhoj, Elizabeth J K et al. DOI: 10.1038/s41431-024-01659-y
PMID: 39304976 Journal: PRENATAL DIAGNOSIS Year: 2024 Reference: Prenat Diagn. 2024 Sep 20. doi: 10.1002/pd.6653. Impact factor: Publication type: Paper in international publication Authors: Abuli, Anna; Carreras, Elena; Gomez-Andres, David; Maiz, Nerea; Rodo, Carlota; Valenzuela, Irene; Vazquez, Elida et al. DOI: 10.1002/pd.6653
PMID: 39333427 Journal: EUROPEAN JOURNAL OF HUMAN GENETICS Year: 2024 Reference: Eur J Hum Genet. 2024 Sep 27. doi: 10.1038/s41431-024-01698-5. Impact factor: Publication type: Paper in international publication Authors: Amiel, Jeanne; Blanc, Pierre; Campos, Berta; Dabir, Tabib; de Oliveira, Judite; Elloumi, Houda Zghal; Hanein, Sylvain; Jayakar, Parul; Lakeman, Inge M M; Lasa-Aranzasti, Amaia et al. DOI: 10.1038/s41431-024-01698-5
PMID: 39342433 Journal: Annals of Clinical and Translational Neurology Year: 2024 Reference: Ann Clin Transl Neurol. 2024 Sep 28. doi: 10.1002/acn3.52213. Impact factor: Publication type: Paper in international publication Authors: Ajjarapu, Aparna S; Blasco-Perez, Laura; Brown, Stephen M; Costa-Roger, Mar; Mathews, Katherine D; Ramachandra, Divya; Sumner, Charlotte J; Tizzano, Eduardo F et al. DOI: 10.1002/acn3.52213
PMID: 36897941 Journal: Science Advances Year: 2023 Reference: Sci Adv. 2023 Mar 10;9(10):eade1463. doi: 10.1126/sciadv.ade1463. Epub 2023 Mar 10. Impact factor: Publication type: Paper in international publication Authors: Afenjar, Alexandra; Akizu, Naiara; Akman, Cigdem; Andrews, Marisa; Arn, Pamela; Au, Margaret; Baldridge, Dustin; Banka, Siddharth; Bhoj, Elizabeth J; Brewer, Carole et al. DOI: 10.1126/sciadv.ade1463
PMID: 37863196 Journal: Anaesthesia Critical Care & Pain Medicine Year: 2023 Reference: Anaesth Crit Care Pain Med. 2023 Oct 18:101314. doi: 10.1016/j.accpm.2023.101314. Impact factor: Publication type: Editorail in international publication Authors: Allaouchiche, Bernard; Arias Garcia, Andrea; Arnaiz, Marina Giralt; Bastide, Sophie; Benhamou, Dan; Biais, Matthieu; Blet, Alice; Bouvet, Lionel; Bravo Nieto, Daniel; Brissaud, Olivier et al. DOI: 10.1016/j.accpm.2023.101314
PMID: 39669251 Journal: Year: 2023 Reference: Genet Med Open. 2023 Jul 5;1(1):100825. doi: 10.1016/j.gimo.2023.100825. eCollection 2023. Impact factor: Publication type: Paper in international publication Authors: Abuli, Anna; Bailles, Eva; Capdevila, Jaume; Casanovas, Oriol; Codina-Sola, Marta; Custodio, Ana; Darras, Basil T; de Lemus, Mencia; Delgado, Eric; Escobar, Manuel et al. DOI: 10.1016/j.gimo.2023.100825
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: 36011323 Journal: Genes Year: 2022 Reference: Genes (Basel). 2022 Aug 8;13(8). pii: genes13081413. doi: 10.3390/genes13081413. Impact factor: Publication type: Paper in international publication Authors: Arnedo, Maria; Castells, Neus; Cusco, Ivon; Gil-Salvador, Marta; Gomez-Puertas, Paulino; Latorre-Pellicer, Ana; Lucia-Campos, Cristina; Pie, Juan; Plaja, Alberto; Puisac, Beatriz et al. DOI: 10.3390/genes13081413
PMID: 36000950 Journal: PEDIATRIC BLOOD & CANCER Year: 2022 Reference: Pediatr Blood Cancer. 2022 Nov;69(11):e29926. doi: 10.1002/pbc.29926. Epub 2022 Aug 24. Impact factor: Publication type: Paper in international publication Authors: Andres, Mara; Astigarraga, Itziar; Balague, Olga; Campo, Elias; Carron, Maxime; Celis, Veronica; Colomer, Dolors; Galera, Ana; Garcia, Noelia; Garrido, Marta et al. DOI: 10.1002/pbc.29926
PMID: 35794048 Journal: NEUROMUSCULAR DISORDERS Year: 2022 Reference: Neuromuscul Disord. 2022 Aug;32(8):697-705. doi: 10.1016/j.nmd.2022.06.005. Epub 2022 Jun 17. Impact factor: Publication type: Letter or abstract Authors: Baranello, Giovanni; Bertini, Enrico; Bowerman, Melissa; Chand, Deepa; Claus, Peter; Corti, Stefania; Desguerre, Isabelle; Detering, Nora Tula; Gillingwater, Thomas H; Gorni, Ksenija et al. DOI: 10.1016/j.nmd.2022.06.005
PMID: 35955418 Journal: INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES Year: 2022 Reference: Int J Mol Sci. 2022 Jul 27;23(15). pii: ijms23158289. doi: 10.3390/ijms23158289. Impact factor: Publication type: Paper in international publication Authors: Alias, Laura; Aller, Elena; Bernal, Sara; Bertini, Enrico; Blasco-Perez, Laura; Boronat, Susana; Castiglioni, Claudia; Codina-Sola, Marta; Costa-Comellas, Laura; Costa-Roger, Mar et al. DOI: 10.3390/ijms23158289
PMID: 34274931 Journal: CYTOGENETIC AND GENOME RESEARCH Year: 2021 Reference: Cytogenet Genome Res. 2021;161(5):236-242. doi: 10.1159/000515653. Epub 2021 Jul 16. Impact factor: Publication type: Letter or abstract Authors: Auge, Marc; Barranco, Laura; Canellas, Anna; Costa, Marta; de la Iglesia, Cristina; Fernandez, Daniel; Herrero, Marta; Lloveras, Elisabet; Mendez, Begona; Palau, Nuria et al. DOI: 10.1159/000515653
PMID: 34239895 Journal: Frontiers in Molecular Biosciences Year: 2021 Reference: Front Mol Biosci. 2021 Jun 22;8:690615. doi: 10.3389/fmolb.2021.690615. eCollection 2021. Impact factor: Publication type: Review in international publication Authors: Cortes, Javier; Llombart-Cussac, Antonio; Malfettone, Andrea; Miguel-Huguet, Bernat; Pardo, Almudena; Perez-Garcia, Jose Manuel; Perez-Lopez, Jordi; Sampayo-Cordero, Miguel et al. DOI: 10.3389/fmolb.2021.690615
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: Publication type: Paper in international publication Authors: Abuli, Anna; Borregan, Mar; Brignani, Eduardo; Brun-Gasca, Carme; Codina-Sola, Marta; Cruz, Jordi; Cueto-Gonzalez, Anna; Cusco, Ivon; Garci-Espejo, Regla; Garcia-Arumi, Elena et al. DOI: 10.1002/jgc4.1354
PMID: 34068396 Journal: Genes Year: 2021 Reference: Genes (Basel). 2021 May 13;12(5). pii: genes12050738. doi: 10.3390/genes12050738. Impact factor: Publication type: Paper in international publication Authors: Alcochea, Alba; Almoguera, Berta; Arias, Patricia; Arias, Pedro; Ayuso, Carmen; Barros, Francisco; Carracedo, Angel; Carrion, Juan; Cusco, Ivon; Galan-Gomez, Enrique et al. DOI: 10.3390/genes12050738
PMID: 32763124 Journal: EUROPEAN JOURNAL OF PAEDIATRIC NEUROLOGY Year: 2020 Reference: Eur J Paediatr Neurol. 2020 Sep;28:38-43. doi: 10.1016/j.ejpn.2020.07.001. Epub 2020 Jul 9. Impact factor: Publication type: Paper in international publication Authors: Butoianu, Nina; Goemans, Nathalie; Haberlova, Jana; Kirschner, Janbernd; Kostera-Pruszczyk, Anna; Mercuri, Eugenio; Muntoni, Francesco; Quijano-Roy, Susana; Sejersen, Thomas; Servais, Laurent et al. DOI: 10.1016/j.ejpn.2020.07.001
PMID: 32620954 Journal: HUMAN MOLECULAR GENETICS Year: 2020 Reference: Hum Mol Genet. 2020 Aug 11;29(14):2435-2450. doi: 10.1093/hmg/ddaa120. Impact factor: Publication type: Paper in international publication Authors: Balasubramanian, Ravikumar; Ballesta-Martinez, Mary J; Barroso, Priscila Sales; Brauner, Raja; Chan, Yee-Ming; Crowley, William F; Cusco, Ivon; Davis, Erica E; Fernandez-Alvarez, Paula; Greening, James et al. DOI: 10.1093/hmg/ddaa120
PMID: 32549991 Journal: Human genome variation Year: 2020 Reference: Hum Genome Var. 2020 Jun 8;7:20. doi: 10.1038/s41439-020-0105-3. eCollection 2020. Impact factor: Publication type: Paper in international publication Authors: Cueto-Gonzalez, Anna M; Fernandez-Alvarez, Paula; Fernandez-Cancio, Monica; Garcia-Arumi, Elena; Tizzano, Eduardo F et al. DOI: 10.1038/s41439-020-0105-3
PMID: 32409512 Journal: JOURNAL OF MEDICAL GENETICS Year: 2020 Reference: J Med Genet. 2020 Dec;57(12):808-819. doi: 10.1136/jmedgenet-2019-106508. Epub 2020 May 14. Impact factor: Publication type: Paper in international publication Authors: Abe, Yuichi; Abou Jamra, Rami; Avila, Magali; Bartolomaeus, Tobias; Betschinger, Joerg; Bierhals, Tatjana; Carmignac, Virginie; Chevarin, Martin; Clayton-Smith, Jill; Cogne, Benjamin et al. DOI: 10.1136/jmedgenet-2019-106508
PMID: 31139691 Journal: Annals of Clinical and Translational Neurology Year: 2019 Reference: Ann Clin Transl Neurol. 2019 Apr 17;6(5):932-944. doi: 10.1002/acn3.779. eCollection 2019 May. Impact factor: Publication type: Paper in international publication Authors: Crawford, Thomas O; Darras, Basil T; De Vivo, Darryl C; Farwell, Wildon; Finkel, Richard S; Fradette, Stephanie; McCampbell, Alexander; Mercuri, Eugenio; Muntoni, Francesco; Oskoui, Maryam et al. DOI: 10.1002/acn3.779
PMID: 31053787 Journal: EUROPEAN JOURNAL OF HUMAN GENETICS Year: 2019 Reference: Eur J Hum Genet. 2019 Dec;27(12):1774-1782. doi: 10.1038/s41431-019-0415-4. Epub 2019 May 3. Impact factor: Publication type: Review in international publication Authors: Serra-Juhe, Clara; Tizzano, Eduardo F et al. DOI: 10.1038/s41431-019-0415-4
PMID: 30850195 Journal: ARCHIVOS DE BRONCONEUMOLOGIA Year: 2019 Reference: Arch Bronconeumol. 2019 Aug;55(8):439-441. doi: 10.1016/j.arbres.2019.01.021. Epub 2019 Mar 5. Impact factor: Publication type: Paper in national publication Authors: Antolin, Maria; Armengot-Carceller, Miguel; Baz-Redon, Noelia; Camats-Tarruella, Nuria; Carrascosa, Antonio; Fernandez-Cancio, Monica; Garrido-Pontnou, Marta; Moreno-Galdo, Antonio; Reula, Ana; Rovira-Amigo, Sandra et al. DOI: 10.1016/j.arbres.2019.01.021
PMID: 30553833 Journal: AMERICAN JOURNAL OF PATHOLOGY Year: 2019 Reference: Am J Pathol. 2019 Mar;189(3):665-676. doi: 10.1016/j.ajpath.2018.11.007. Epub 2018 Dec 13. Impact factor: Publication type: Paper in international publication Authors: Calucho, Maite; Calvo-Barreiro, Laura; Castro, Zoraida; Costa, Carme; Eixarch, Herena; Espejo, Carmen; Martinez-Saez, Elena; Montalban, Xavier; Ortega-Aznar, Arantxa; Ramon Y Cajal, Santiago et al. DOI: 10.1016/j.ajpath.2018.11.007
PMID: 29572017 Journal: HEALTH POLICY Year: 2018 Reference: Health Policy. 2018 Jun;122(6):590-598. doi: 10.1016/j.healthpol.2018.03.002. Epub 2018 Mar 15. Impact factor: Publication type: Paper in international publication Authors: Abaitua, I; Comellas, M; Cruz, J; Gutierrez-Solana, L G; Lizan, L; Perez-Lopez, J; Poveda, J L; Torrent-Farnell, J; Urcelay, J et al. DOI: 10.1016/j.healthpol.2018.03.002
PMID: 29237192 Journal: NEUROPEDIATRICS Year: 2018 Reference: Neuropediatrics. 2018 Apr;49(2):104-111. doi: 10.1055/s-0037-1609036. Epub 2017 Dec 13. Impact factor: Publication type: Paper in international publication Authors: Boronat, S; Delgado, I; Felipe, A; Julia-Palacios, N; Macaya, A et al. DOI: 10.1055/s-0037-1609036
PMID: 29511324 Journal: EUROPEAN JOURNAL OF HUMAN GENETICS Year: 2018 Reference: Eur J Hum Genet. 2018 Jul;26(7):1014-1025. doi: 10.1038/s41431-018-0119-1. Epub 2018 Mar 6. Impact factor: Publication type: Paper in international publication Authors: Allegue, Catarina; Alvarez, Patricia; Arbelo, Elena; Borregan, Mar; Brugada, Josep; Brugada, Ramon; Campuzano, Oscar; Carro, Ester; Cesar, Sergi; Coll, Monica et al. DOI: 10.1038/s41431-018-0119-1
PMID: 29465313 Journal: FASEB JOURNAL Year: 2018 Reference: FASEB J. 2018 Feb 20:fj201700941RR. doi: 10.1096/fj.201700941RR. Impact factor: Publication type: Paper in international publication Authors: Aran, Gemma; Armengol, Carolina; Barcena, Cristina; Diaz, Esther; Elortza, Felix; Garrido, Marta; Guerra, Laura; Ojanguren, Isabel; Planas, Ramon; Sala, Margarita et al. DOI: 10.1096/fj.201700941RR
PMID: 28711742 Journal: European Journal of Medical Genetics Year: 2017 Reference: Eur J Med Genet. 2017 Oct;60(10):517-520. doi: 10.1016/j.ejmg.2017.07.007. Epub 2017 Jul 12. Impact factor: Publication type: Paper in international publication Authors: Boronat, Susana; Carrascosa, Antonio; Clemente, Maria; Macaya, Alfons; Martinez-Saez, Elena; Munell, Francina; Sanchez-Montanez, Angel; Valenzuela, Irene et al. DOI: 10.1016/j.ejmg.2017.07.007
PMID: 28644430 Journal: GENE THERAPY Year: 2017 Reference: Gene Ther. 2017 Sep;24(9):529-533. doi: 10.1038/gt.2017.52. Epub 2017 Jul 23. Impact factor: Publication type: Review in national publication Authors: Talbot, K; Tizzano, E F et al. DOI: 10.1038/gt.2017.52
PMID: 28602212 Journal: MEDICINA CLINICA Year: 2017 Reference: Med Clin (Barc). 2017 Sep 20;149(6):270. doi: 10.1016/j.medcli.2017.03.054. Epub 2017 Jun 8. Impact factor: Publication type: Review in national publication Authors: Dominguez Gil-Hurle, Alfonso; Lopez Rodriguez, Monica; Perez-Lopez, Jordi et al. DOI: 10.1016/j.medcli.2017.03.054
PMID: 28488386 Journal: AMERICAN JOURNAL OF MEDICAL GENETICS PART A Year: 2017 Reference: Am J Med Genet A. 2017 Jul;173(7):1891-1895. doi: 10.1002/ajmg.a.38260. Epub 2017 May 9. Impact factor: Publication type: Paper in international publication Authors: Barber, Ignasi; Boronat, Susana; Thiele, Elizabeth Anne et al. DOI: 10.1002/ajmg.a.38260
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: 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: 26332136 Journal: AM J MED GENET A Year: 2015 Reference: Am J Med Genet A. 2015 Dec;167A(12):2992-7. doi: 10.1002/ajmg.a.37339. Epub 2015 Aug 29. Impact factor: Publication type: Paper in international publication Authors: Auladell, Maria; Barber, Ignasi; Boronat, Susana; Thiele, Elizabeth A et al. DOI: 10.1002/ajmg.a.37339
PMID: 25573720 Journal: EUR J MED GENET Year: 2015 Reference: Eur J Med Genet. 2015 Mar;58(3):191-3. doi: 10.1016/j.ejmg.2014.12.012. Epub 2015 Jan 5. Impact factor: Publication type: Paper in international publication Authors: Boronat, Susana; Davis-Cooper, Shelby; Pollack, Sarah F; Shaaya, Elias A; Thibert, Ronald L; Zella, Garrett C et al. DOI: 10.1016/j.ejmg.2014.12.012
PMID: 24985752 Journal: J CHILD NEUROL Year: 2015 Reference: J Child Neurol. 2015 Mar;30(3):333-8. doi: 10.1177/0883073814538669. Epub 2014 Jun 30. Impact factor: Publication type: Paper in international publication Authors: Boronat, Susana; Caruso, Paul; Mehan, William A; Shaaya, Elias A; Thibert, Ronald L et al. DOI: 10.1177/0883073814538669
PMID: 25587870 Journal: EPIGENETICS-US Year: 2015 Reference: Epigenetics. 2015;10(2):167-77. doi: 10.1080/15592294.2014.998536. Impact factor: Publication type: Paper in international publication Authors: Cusco, Ivon; Flores, Raquel; Homs, Aida; Perez-Jurado, Luis A; Serra-Juhe, Clara; Toran, Nuria et al. DOI: 10.1080/15592294.2014.998536
PMID: 25046559 Journal: CLINICA CHIMICA 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: Publication type: Paper in international publication Authors: Amigo, Jorge; Blanco-Verea, Alejandro; Borregan, Mar; Brion, Maria; Carracedo, Angel; Del Campo, Miguel; Evangelista, Artur; Gago-Diaz, Marina; Garcia-Dorado, David; Sobrino, Beatriz et al. DOI: 10.1016/j.cca.2014.07.016
PMID: 24378291 Journal: EAR AND HEARING Year: 2014 Reference: Ear Hear. 2014 May-Jun;35(3):e84-91. doi: 10.1097/AUD.0000000000000008. Impact factor: Publication type: Paper in international publication Authors: Admiraal, Ronald J C; Beynon, Andy J; Del Campo, Miguel; Del Castillo, Ignacio; Feenstra, Ilse; Huygen, Patrick L M; Kremer, Hannie; Kunst, Henricus P M; Leijendeckers, Joop M; Oonk, Anne M M et al. DOI: 10.1097/AUD.0000000000000008
PMID: 24668795 Journal: AMERICAN JOURNAL OF MEDICAL GENETICS PART A Year: 2014 Reference: Am J Med Genet A. 2014 Jun;164A(6):1438-42. doi: 10.1002/ajmg.a.36469. Epub 2014 Mar 25. Impact factor: Publication type: Paper in international publication Authors: Boronat, Susana; Geffrey, Alexandra L; Shinnick, Julianna E; Staley, Brigid A; Thiele, Elizabeth A et al. DOI: 10.1002/ajmg.a.36469
PMID: 24466005 Journal: PLoS One Year: 2014 Reference: PLoS One. 2014 Jan 23;9(1):e86286. doi: 10.1371/journal.pone.0086286. eCollection 2014 Jan 23. Impact factor: Publication type: Paper in international publication Authors: Delgado, Mercedes; Gonzalez-Meneses, Antonio; Izquierdo, Guillermo; Lucas, Miguel; Martinez-Mir, Amalia; Mondejar, Rufino; Perez-Sempere, Angel; Rubio, Rocio; Solano, Francisca; Vendrell, Teresa et al. DOI: 10.1371/journal.pone.0086286
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: 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: 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: 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
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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.
