Molecular Biology & Genetics
Listando 10 trabajos de la institución 40
Lista de trabajos en el área Molecular Biology & Genetics
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147
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Article
Successful engraftment of gene-corrected hematopoietic stem cells in non-conditioned patients with Fanconi anemia
Rio, Paula; Navarro, Susana; Wang, Wei; Sanchez-Dominguez, Rebeca; Pujol, Roser M.; Segovia, Jose C.; Bogliolo, Massimo; Merino, Eva; Wu, Ning; Salgado, Rocio; Lamana, Maria L.; Yanez, Rosa M.; Casado, Jose A.; Gimenez, Yari; Roman-Rodriguez, Francisco J.;
NATURE MEDICINE
1078-8956 (2019)
DOI /
10.1038/s41591-019-0550-z
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131
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0
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1
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Article
NHEJ-Mediated Repair of CRISPR-Cas9-Induced DNA Breaks Efficiently Corrects Mutations in HSPCs from Patients with Fanconi Anemia
Jose Roman-Rodriguez, Francisco; Ugalde, Laura; Alvarez, Lara; Diez, Begona; Jose Ramirez, Maria; Risueno, Cristina; Corton, Marta; Bogliolo, Massimo; Bernal, Sara; March, Francesca; Ayuso, Carmen; Hanenberg, Helmut; Sevilla, Julian; Rodriguez-Perales, San
CELL STEM CELL
1934-5909 (2019)
DOI /
10.1016/j.stem.2019.08.016
Bronze
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76
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2
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Integrated Molecular and Clinical Analysis of 1,000 Pediatric Low-Grade Gliomas
Ryall, Scott; Zapotocky, Michal; Fukuoka, Kohei; Nobre, Liana; Stucklin, Ana Guerreiro; Bennett, Julie; Siddaway, Robert; Li, Christopher; Pajovic, Sanja; Arnoldo, Anthony; Kowalski, Paul E.; Johnson, Monique; Sheth, Javal; Lassaletta, Alvaro; Tatevossian,
CANCER CELL
1535-6108 (2020)
DOI /
10.1016/j.ccell.2020.03.011
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46
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1
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Review
A six-attribute classification of genetic mosaicism
Martinez-Glez, Victor; Tenorio, Jair; Nevado, Julian; Gordo, Gema; Rodriguez-Laguna, Lara; Feito, Marta; de Lucas, Raul; Perez-Jurado, Luis A.; Ruiz Perez, Victor L.; Torrelo, Antonio; Spinner, Nancy B.; Happle, Rudolf; Biesecker, Leslie G.; Lapunzina, Pab
GENETICS IN MEDICINE
1098-3600 (2020)
DOI /
10.1038/s41436-020-0877-3
Mentions
28
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Value of genetic analysis for confirming inborn errors of metabolism detected through the Spanish neonatal screening program
Navarrete, Rosa; Leal, Fatima; Vega, Ana, I; Morais-Lopez, Ana; Teresa Garcia-Silva, Maria; Martin-Hernandez, Elena; Quijada-Fraile, Pilar; Bergua, Ana; Vives, Inmaculada; Garcia-Jimenez, Inmaculada; Yahyaoui, Raquel; Pedron-Giner, Consuelo; Belanger-Quint
EUROPEAN JOURNAL OF HUMAN GENETICS
1018-4813 (2019)
DOI /
10.1038/s41431-018-0330-0
Bronze, Green published
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7
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Genetic analyses of aplastic anemia and idiopathic pulmonary fibrosis patients with short telomeres, possible implication of DNA-repair genes
Arias-Salgado, Elena G.; Galvez, Eva; Planas-Cerezales, Lurdes; Pintado-Berninches, Laura; Vallespin, Elena; Martinez, Pilar; Carrillo, Jaime; Iarriccio, Laura; Ruiz-Llobet, Anna; Catala, Albert; Badell-Serra, Isabel; Gonzalez-Granado, Luis I.; Martin-Nald
ORPHANET JOURNAL OF RARE DISEASES
(2019)
DOI /
10.1186/s13023-019-1046-0
Gold DOAJ, Green published
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2
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1
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Clinical and genetic features of 13 Spanish patients with KCNQ2 mutations
Hortiguela, Montesclaros; Fernandez-Marmiesse, Ana; Cantarin, Veronica; Gouveia, Sofia; Garcia-Penas, Juan J.; Fons, Carmen; Armstrong, Judith; Barrios, Desiree; Diaz-Flores, Felicitas; Tirado, Pilar; Couce, Maria L.; Gutierrez-Solana, Luis G.
JOURNAL OF HUMAN GENETICS
1434-5161 (2017)
DOI /
10.1038/jhg.2016.104
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3
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1
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Role of glial cells in the generation of sex differences in neurodegenerative diseases and brain aging
Chowen, Julie A.; Garcia-Segura, Luis M.
MECHANISMS OF AGEING AND DEVELOPMENT
0047-6374 (2021)
DOI /
10.1016/j.mad.2021.111473
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1
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From gestalt to gene: early predictive dysmorphic features of PMM2-CDG
Martinez-Monseny, Antonio; Cuadras, Daniel; Bolasell, Merce; Muchart, Jordi; Arjona, Cesar; Borregan, Mar; Algrabli, Adi; Montero, Raquel; Artuch, Rafael; Velazquez-Fragua, Ramon; Macaya, Alfons; Perez-Cerda, Celia; Perez-Duenas, Belen; Perez, Belen; Serra
JOURNAL OF MEDICAL GENETICS
0022-2593 (2019)
DOI /
10.1136/jmedgenet-2018-105588
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15
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Multiple particle tracking analysis in isolated nuclei reveals the mechanical phenotype of leukemia cells
Herraez-Aguilar, Diego; Madrazo, Elena; Lopez-Menendez, Horacio; Ramirez, Manuel; Monroy, Francisco; Redondo-Munoz, Javier
SCIENTIFIC REPORTS
2045-2322 (2020)
DOI /
10.1038/s41598-020-63682-5
Gold DOAJ, Green published
