Molecular Biology & Genetics
Listando 9 trabajos del autor/autora 37
Lista de trabajos en el área Molecular Biology & Genetics
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147
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21
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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
Mentions
29
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1
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13
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0
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Article
Biallelic truncating &ITFANCM&IT mutations cause early-onset cancer but not Fanconi anemia
Bogliolo, Massimo; Bluteau, Dominique; Lespinasse, James; Pujol, Roser; Vasquez, Nadia; d'Enghien, Catherine Dubois; Stoppa-Lyonnet, Dominique; Leblanc, Thierry; Soulier, Jean; Surralles, Jordi
GENETICS IN MEDICINE
1098-3600 (2018)
DOI /
10.1038/gim.2017.124
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131
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0
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1
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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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11
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1
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10
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Individuals with &ITFANCM&IT biallelic mutations do not develop Fanconi anemia, but show risk for breast cancer, chemotherapy toxicity and may display chromosome fragility
Catucci, Irene; Osorio, Ana; Arver, Brita; Neidhardt, Guido; Bogliolo, Massimo; Zanardi, Federica; Riboni, Mirko; Minardi, Simone; Pujol, Roser; Azzollini, Jacopo; Peissel, Bernard; Manoukian, Siranoush; De Vecchi, Giovanna; Casola, Stefano; Hauke, Jan; Ri
GENETICS IN MEDICINE
1098-3600 (2018)
DOI /
10.1038/gim.2017.123
Bronze
Mentions
53
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2
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5
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Decapping protein EDC4 regulates DNA repair and phenocopies BRCA1
Hernandez, Gonzalo; Jose Ramirez, Maria; Minguillon, Jordi; Quiles, Paco; Ruiz de Garibay, Gorka; Aza-Carmona, Miriam; Bogliolo, Massimo; Pujol, Roser; Prados-Carvajal, Rosario; Fernandez, Juana; Garcia, Nadia; Lopez, Adria; Gutierrez-Enriquez, Sara; Diez,
NATURE COMMUNICATIONS
(2018)
DOI /
10.1038/s41467-018-03433-3
Gold, Green published
Mentions
43
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2
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3
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Mutations in TOP3A Cause a Bloom Syndrome-like Disorder
Martin, Carol-Anne; Sarlos, Kata; Logan, Clare V.; Thakur, Roshan Singh; Parry, David A.; Bizard, Anna H.; Leitch, Andrea; Cleal, Louise; Ali, Nadia Shaukat; Al-Owain, Mohammed A.; Allen, William; Altmueller, Janine; Aza-Carmona, Miriam; Barakat, Bushra A.
AMERICAN JOURNAL OF HUMAN GENETICS
0002-9297 (2018)
DOI /
10.1016/j.ajhg.2018.07.001
Green published, Green accepted, Gold other
Mentions
16
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0
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From exome analysis in idiopathic azoospermia to the identification of a high-risk subgroup for occult Fanconi anemia
Krausz, Csilla; Riera-Escamilla, Antoni; Chianese, Chiara; Moreno-Mendoza, Daniel; Ars, Elisabet; Rajmil, Osvaldo; Pujol, Roser; Bogliolo, Massimo; Blanco, Ignacio; Rodriguez, Ines; Badell, Isabel; Ruiz-Castane, Eduard; Surralles, Jordi
GENETICS IN MEDICINE
1098-3600 (2019)
DOI /
10.1038/s41436-018-0037-1
Green published
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14
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FANCA Gene Mutations in North African Fanconi Anemia Patients
Ben Haj Ali, Abir; Messaoud, Olfa; Elouej, Sahar; Talmoudi, Faten; Ayed, Wiem; Mellouli, Fethi; Ouederni, Monia; Hadiji, Sondes; De Sandre-Giovannoli, Annachiara; Delague, Valerie; Levy, Nicolas; Bogliolo, Massimo; Surralles, Jordi; Abdelhak, Sonia; Amouri
FRONTIERS IN GENETICS
(2021)
DOI /
10.3389/fgene.2021.610050
Gold DOAJ, Green published
Mentions
10
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0
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0
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Functional Comparison of XPF Missense Mutations Associated to Multiple DNA Repair Disorders
Marin, Maria; Jose Ramirez, Maria; Carmona, Miriam Aza; Jia, Nan; Ogi, Tomoo; Bogliolo, Massimo; Surralles, Jordi
GENES
(2019)
DOI /
10.3390/genes10010060
Green submitted, Green published, Gold
